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Gene: Mbd5 MGI:2138934

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Gene Summary

Name:
methyl-CpG binding domain protein 5
Synonyms:
OTTMUSG00000012483,  9430004D19Rik,  C030040A15Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased leukocyte cell number Mbd5tm1b(EUCOMM)Wtsi HET Early adult 4.96×10-05
decreased exploration in new environment Mbd5tm1b(EUCOMM)Wtsi HET Early adult 6.00×10-07
short tibia Mbd5tm1b(EUCOMM)Wtsi HET Early adult 1.55×10-05
decreased locomotor activity Mbd5tm1b(EUCOMM)Wtsi HET   Early adult 2.00×10-05
decreased lymphocyte cell number Mbd5tm1b(EUCOMM)Wtsi HET Early adult 2.80×10-05
preweaning lethality, complete penetrance Mbd5tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
decreased total retina thickness Mbd5tm1b(EUCOMM)Wtsi HET Early adult 8.68×10-08
abnormal lip morphology Mbd5tm1b(EUCOMM)Wtsi HET Early adult 1.08×10-05

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Mbd5 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Mbd5 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Hip dysplasia, Clinodactyly of the 5th finger, Ataxia, Everted lower lip... ORPHA:228402
Intellectual Developmental Disorder, Autosomal Dominant 1
Short stature, Long eyelashes, Low posterior hairline, Thick eyebrow, Highly arched eyebrow, Post... OMIM:156200

The table below shows human diseases predicted to be associated to Mbd5 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Short Stature Due To Ghsr Deficiency
Decreased body weight, Short stature, Abnormality of body weight, Delayed puberty, Decreased seru... ORPHA:314811
Acid-Labile Subunit Deficiency
Delayed puberty, Mild postnatal growth retardation, Insulin insensitivity, Decreased serum insuli... OMIM:615961
Short Stature Due To Partial Ghr Deficiency
Short stature, Delayed puberty, Decreased serum insulin-like growth factor 1, Hypoglycemia, Growt... ORPHA:314802
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Short stature, Increased circulat... ORPHA:171706
Isolated Growth Hormone Deficiency, Type Ia
Reduced circulating growth hormone concentration, Severe short stature, Decreased serum insulin-l... OMIM:262400
Transient Neonatal Diabetes Mellitus
Hypothyroidism, Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Small for gestationa... ORPHA:99886
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancrea... OMIM:601820
Pituitary Hormone Deficiency, Combined, 4
Hypothyroidism, Short stature, Impaired growth-hormone response to insulin stimulation test, Adre... OMIM:262700
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Pancreatic ... OMIM:610021
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Increased hepatic glycogen content, Hypoglycemia, Hepatomegaly, Fa... OMIM:232700
Insulin Autoimmune Syndrome
Weight loss, Nonketotic hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Reactive... ORPHA:411593
Obesity Due To Prohormone Convertase I Deficiency
Hyperinsulinemia, Childhood-onset truncal obesity, Gonadotropin deficiency, Decreased response to... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hyperinsulinemia, Childhood-onset truncal obesity, Gonadotropin deficiency, Decreased response to... ORPHA:71526
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Syndactyly Type 4
Triphalangeal thumb, Camptodactyly of finger, Short tibia, Foot polydactyly, Toe syndactyly, Hand... ORPHA:93405
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Neonatal hypoglycemia, Truncal obesity OMIM:240900
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Short stature, Hypogonadism, Hypoglycemia, Postnatal growth retardation OMIM:616113
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Alopeci... ORPHA:453533
Hyperinsulinism Due To Glucokinase Deficiency
Hypoketotic hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Recurrent hyp... ORPHA:79299
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Severe short stature, Hypoglycemia, Intrauterine growth retardation OMIM:223500
Growth Hormone Insensitivity Syndrome
Diabetes insipidus, Hypogonadism, Short stature, Type II diabetes mellitus, Insulin resistance, F... ORPHA:181393
3-Methylglutaconic Aciduria Type 1
Failure to thrive, Hypoglycemia, Hepatomegaly ORPHA:67046
Acromesomelic Dysplasia 2C
Short tibia, Short foot, Hypoplasia of the radius, Radial bowing, Cuboidal metacarpal, Hip disloc... OMIM:201250
Acrocapitofemoral Dysplasia
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Enlargement of the... OMIM:607778
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Hyperinsulinism Due To Hnf1A Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Ketotic hypoglycemia, Small for gestational age, Mate... ORPHA:324575
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Acromesomelic Dysplasia 2A
Short tibia, Short phalanx of finger, Aplasia/Hypoplasia involving the metacarpal bones, Hypoplas... OMIM:200700
Pyknoachondrogenesis
Stillbirth OMIM:265880
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Hypoglycemic seizures, Fasting hyperinsulinemia, Hy... OMIM:609968
Osebold-Remondini Syndrome
Short tibia, Short toe, Short phalanx of finger, Hypoplasia of the radius, Carpal synostosis, Hyp... OMIM:112910
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short tibia, Short 4th metacarpal, Short long bone, Epiphyseal stippling, Short 3rd metacarpal, L... OMIM:118651
Mody
Pancreatic hypoplasia, Transient neonatal diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis... ORPHA:552
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Nonketotic hypoglycemia, Large for gestational age, Neonatal hypoglycem... ORPHA:293964
Acromesomelic Dysplasia, Grebe Type
Short tibia, Short toe, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia involving the metacar... ORPHA:2098
Immunodeficiency 18
Lymphopenia, Decreased proportion of CD3-positive T cells OMIM:615615
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hepatomegaly OMIM:609016
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Fibular Hemimelia
Short tibia, Hip subluxation, Limited knee flexion/extension, Hypoplastic acetabulae, Toe syndact... ORPHA:93323
Aredyld Syndrome
Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Short stature, Type II diabetes mellitus, Ca... ORPHA:1133
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Decreased response to growth hormone stimulation test, Short stature, Post... OMIM:615925
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Cirrhosis, Short stature, Elevated hepatic transaminase, Hepatocellular carcino... ORPHA:369
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Precocious puberty, Short stature, Diabetic ketoacidosis, Small for gestational... OMIM:262190
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Maternal diabetes, Type I diabetes mellitus, Hyperins... ORPHA:276580
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevated circulating a... OMIM:615158
Langer Mesomelic Dysplasia
Short tibia, Broad ulna, Short femoral neck, Hypoplasia of the radius, Micrognathia, Radial bowin... OMIM:249700
Leri-Weill Dyschondrosteosis
Short tibia, Short toe, Short 4th metacarpal, Coxa valga, Abnormal carpal morphology, Hypoplasia ... OMIM:127300
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hepatic failure, Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Short tibia, Absent thumb, Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... OMIM:612447
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Short stature ORPHA:366
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Elevated circulating thyroid-stimulating hormone concentration, Primary adrenal ... OMIM:617872
Hyperinsulinemic Hypoglycemia, Familial, 6
Failure to thrive, Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulin... OMIM:606762
X-Linked Acrogigantism
Enlarged pituitary gland, Diabetes insipidus, Increased circulating prolactin concentration, Incr... ORPHA:300373
Pituitary Hormone Deficiency, Combined, 2
Hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hypogonadism, S... OMIM:262600
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Short tibia, Foot oligodactyly, Hand oligodactyly, Syndactyly, Fibular aplasia, Tibial bowing OMIM:246570
Léri-Weill Dyschondrosteosis
Short tibia, Abnormal carpal morphology, Abnormal metaphysis morphology, Genu valgum, Abnormality... ORPHA:240
Acheiropody
Short tibia, Aplasia of the phalanges of the hand, Absent toe, Aplasia of metacarpal bones, Aplas... OMIM:200500
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Diabetes mellitus, Polycystic ovaries, H... ORPHA:79084
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Decreased body weight, Short stature, Small for gestational age, Neonatal hypoglycemia, Hypoglyce... ORPHA:231140
Post-Traumatic Pituitary Deficiency
Abnormality of secondary sexual hair, Decreased response to growth hormone stimulation test, Decr... ORPHA:95619
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Mulibrey Nanism
Short stature, Cachexia, Intrauterine growth retardation, Hepatomegaly ORPHA:2576
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hypoketotic hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia,... ORPHA:276608
Lethal Faciocardiomelic Dysplasia
Short tibia, Radial club hand, Short 5th finger, Hypoplasia of the radius, Microretrognathia, Hyp... ORPHA:1972
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Flexion contracture, Lipoatrophy, Weight loss, Premature graying of hair, Reduced subcutaneous ad... ORPHA:1979
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Type I diabetes mellitus, Hyperinsulinemic hypoglycem... ORPHA:276575
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Hypothyroidism, Anterior pituitary hypoplasia, Decreased circulating free T4 concentration, Reduc... OMIM:613038
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Abnormal circ... ORPHA:280356
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Childhood-onset truncal obesity, Increased adipose tissue, Type II diabetes mel... ORPHA:71529
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Alopecia, Short stature, Reduced subcutaneous adipose tissue, Small pituitary gland, Delayed pube... OMIM:612079
Isolated Growth Hormone Deficiency, Type Iv
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Impaired gr... OMIM:618157
Moynahan Syndrome
Alopecia, Short stature, Hypogonadism, Cachexia, Sparse hair ORPHA:2574
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Failure to thrive, Hypoglycemia OMIM:610090
Mehmo Syndrome
Decreased response to growth hormone stimulation test, Birth length less than 3rd percentile, Sma... OMIM:300148
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Triphalangeal thumb, Short tibia, Absent tibia, Preaxial polydactyly, Fibular duplication OMIM:188740
Hyperinsulinism Due To Ucp2 Deficiency
Hypoketotic hypoglycemia, Large for gestational age, Hyperinsulinemic hypoglycemia, Diffuse pancr... ORPHA:276556
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... OMIM:619048
Pituitary Hormone Deficiency, Combined, 6
Decreased circulating follicle stimulating hormone concentration, Short stature, Decreased circul... OMIM:613986
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Small for gestational age, Hypoglycemia, Intrauterine growth retardation ORPHA:231147
Temple Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Short stature, Small f... ORPHA:254516
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Hypoglycemia, Congenital hepatic fibrosis ORPHA:446
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short tibia, Hypoplasia of the radius, Lytic defects of humeral diaphysis, Short femur, Hypoplasi... OMIM:601376
Endocardial Fibroelastosis
Anterior hypopituitarism, Hypoglycemia, Cryptorchidism ORPHA:2022
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Impaired glucose tolerance, Type II diabetes mellitus, Hy... OMIM:147630
2P21 Microdeletion Syndrome
Hypogonadism, Long eyelashes, Failure to thrive, Hypoglycemia, Growth delay ORPHA:163693
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Short stature, Elevated hepatic transaminase, Hyperglycemia, Obesity ORPHA:329249
Orofaciodigital Syndrome Viii
Short tibia, Polydactyly, Median cleft lip, Syndactyly OMIM:300484
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia ORPHA:35878
Renpenning Syndrome
Alopecia, Decreased testicular size, Thin eyebrow, Cachexia, Diabetes mellitus, Severe short stat... ORPHA:3242
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Short statu... OMIM:618160
Mesomelic Dysplasia, Savarirayan Type
Short tibia, Abnormal foot morphology, Hip dislocation, Talipes equinovalgus, Dislocated radial h... OMIM:605274
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue, Type II diabetes mellit... OMIM:604367
Ane Syndrome
Alopecia, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, A... ORPHA:157954
Flynn-Aird Syndrome
Alopecia, Type II diabetes mellitus, Cachexia, Primary adrenal insufficiency, Abnormality of the ... ORPHA:2047
Isolated Growth Hormone Deficiency, Type Ii
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Severe shor... OMIM:173100
Immunodeficiency 24
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Decreased pr... OMIM:615897
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Short stature, Hyperinsulinemic hypoglycemia, Dorsocervical fat pad, Diabetes mellitus, Delayed p... OMIM:616033
Glycogen Storage Disease Ixc
Cirrhosis, Elevated hepatic transaminase, Increased hepatic glycogen content, Hypoglycemia, Bile ... OMIM:613027
Glucocorticoid Deficiency 1
Abnormal response to ACTH stimulation test, Increased circulating ACTH level, Decreased circulati... OMIM:202200
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus, Hyperglycemia, In... OMIM:613370
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypogonadism, Short stature, Small for gestational age, Insulin resistance, Severe intrauterine g... ORPHA:73272
3-Methylglutaconic Aciduria Type 4
Decreased liver function, Failure to thrive, Hypoglycemia ORPHA:67048
Combined Oxidative Phosphorylation Deficiency 47
Elevated hepatic transaminase, Failure to thrive, Hypoglycemia, Hepatomegaly, Cryptorchidism, Int... OMIM:618958
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia ... ORPHA:1986
Blue Diaper Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Elevated hepatic transaminase, Re... ORPHA:94086
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
High anterior hairline, Short stature, Small for gestational age, Long eyelashes, Fine hair, Hypo... ORPHA:231137
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Distal arthrogryposis, Cachexia, Elevated hepatic transaminase, Hepatic steatosis, Hypoglycemia, ... ORPHA:42
Donohue Syndrome
Hepatic fibrosis, Precocious puberty, Hyperinsulinemia, Adipose tissue loss, Intrauterine growth ... OMIM:246200
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Thyroid hypoplasia, Hypoglycemia, Pituitary dwarfism, Decreased circulating T4 concentration, Dec... ORPHA:226307
Glycogen Storage Disease Ixb
Short stature, Increased hepatic glycogen content, Hypoglycemia, Growth delay, Hepatomegaly, Sple... OMIM:261750
Galactokinase Deficiency
Hyperinsulinemia, Small for gestational age, Hepatosplenomegaly, Failure to thrive, Hypoglycemia,... ORPHA:79237
Pituitary Stalk Interruption Syndrome
Hypothyroidism, Diabetes insipidus, Short stature, Ectopic posterior pituitary, Failure to thrive... ORPHA:95496
Sim1-Related Prader-Willi-Like Syndrome
Central hypothyroidism, Precocious puberty, Hypogonadism, Decreased testicular size, Type II diab... ORPHA:398079
Sheehan Syndrome
Abnormal size of pituitary gland, Gonadotropin deficiency, Decreased serum estradiol, Sparse axil... ORPHA:91355
Pituitary Carcinoma
Pituitary thyrotropic cell adenoma, Enlarged pituitary gland, Diabetes insipidus, Pituitary corti... ORPHA:300385
Short Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Failure to thrive, Intrauterine growth retardation, Ketotic hypoglycemia ORPHA:26792
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Increased circulating cortisol level, Abnormal response t... ORPHA:79644
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Increased circulating ACTH level, Decreased circulating cortisol level, Abnor... OMIM:614736
Insulinoma
Hyperinsulinemia, Nonketotic hypoglycemia, Neuroendocrine neoplasm, Hyperinsulinemic hypoglycemia... ORPHA:97279
Diencephalic Syndrome
Cachexia, Abnormality of the hypothalamus-pituitary axis, Decreased body weight ORPHA:1672
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus, Severe failure to thrive, Intrauterine growt... OMIM:601410
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia, Postnatal growth retardation OMIM:616111
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Disproportionate shortening of the tibia, Cutaneous ... OMIM:619217
Hemochromatosis, Neonatal
Hepatic failure, Hepatic fibrosis, Cirrhosis, Hepatocellular necrosis, Hypoglycemia, Cholestasis,... OMIM:231100
Solitary Fibrous Tumor/Hemangiopericytoma
Weight loss, Neoplasm of the liver, Abnormality of the peritoneum, Hypoglycemia, Hypoinsulinemia,... ORPHA:2126
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia, Metaphyseal chondrodysplasia OMIM:200900
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Prader-Willi Syndrome
Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test... ORPHA:739
Non-Acquired Panhypopituitarism
Abnormality of secondary sexual hair, Anterior pituitary hypoplasia, Decreased response to growth... ORPHA:90695
Laryngeal Neuroendocrine Tumor
Adrenocorticotropic hormone excess, Weight loss, Increased serum serotonin, Neuroendocrine neopla... ORPHA:100083
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia, Failure to thrive in infancy ORPHA:6
Glycerol Kinase Deficiency
Short stature, Adrenal insufficiency, Small for gestational age, Adrenocortical hypoplasia, Hypog... OMIM:307030
Craniopharyngioma
Enlarged pituitary gland, Increased circulating prolactin concentration, Hypogonadism, Neoplasm o... ORPHA:54595
Combined Oxidative Phosphorylation Deficiency 36
Failure to thrive, Elevated circulating alanine aminotransferase concentration, Elevated circulat... OMIM:617950
Orofaciodigital Syndrome Type 10
Short tibia, Short toe, Mesomelic leg shortening, Micrognathia, Metatarsal synostosis, Oligodacty... ORPHA:2756
Silver-Russell Syndrome
Precocious puberty, Short stature, Decreased testicular size, Cachexia, Insulin resistance, Recur... ORPHA:813
Glycogen Storage Disease Iii
Hepatic fibrosis, Short stature, Elevated hepatic transaminase, Hypoglycemia, Hepatomegaly OMIM:232400
Magel2-Related Prader-Willi-Like Syndrome
Central hypothyroidism, Precocious puberty, Flexion contracture, Hypogonadism, Short stature, Dec... ORPHA:398069
Acth Deficiency, Isolated
Jaundice, Decreased circulating cortisol level, Cholestasis, Fasting hypoglycemia, Adrenocorticot... OMIM:201400
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia, Short stature ORPHA:1144
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test... ORPHA:98754
Laurin-Sandrow Syndrome
Triphalangeal thumb, Broad foot, Patellar aplasia, Absent tibia, Hand polydactyly, Syndactyly, Ab... OMIM:135750
Bdv Syndrome
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hyperin... OMIM:619326
Congenital Disorder Of Glycosylation, Type Ig
Short tibia, Rhizomelia, Short ribs, Hypoplasia of the radius, Short femur, Thin upper lip vermil... OMIM:607143
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Camptodactyly of finger, Short stature, Long eyelashes, Hypoglycemia, Hypogonadotropic hypogonadi... ORPHA:48431
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Alopecia, Abnormal size of pituitary gland, Decreased response to growth hormone stimulation test... ORPHA:293978
Dyschondrosteosis And Nephritis
Short tibia, Radial bowing, Ulnar bowing, Short forearm OMIM:127350
Orofaciodigital Syndrome Ix
Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly, Median cleft lip, Retinal coloboma OMIM:258865
Panhypophysitis
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def... ORPHA:95513
Tibial Hemimelia
Short tibia, Polydactyly, Coxa valga, Hip dislocation, Metatarsus adductus, Aplasia of the 2nd me... ORPHA:93322
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test... ORPHA:98793
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Obesity, Glucose intolerance, Short stature ORPHA:369873
Wolfram-Like Syndrome
Primary gonadal insufficiency, Hypothyroidism, Male hypogonadism, Diabetes mellitus, Delayed pube... ORPHA:411590
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test... ORPHA:177901
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Hypothyroidism, Decreased body weight, Small for gestational age, Synophrys, Fine hair, Dorsocerv... ORPHA:391408
Dihydrolipoamide Dehydrogenase Deficiency
Decreased liver function, Hypoglycemia, Elevated hepatic transaminase, Hepatomegaly OMIM:246900
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Short stature, Keloids, Decreased testicular size, Type II diabetes mellitus, P... ORPHA:3085
Mitochondrial Pyruvate Carrier Deficiency
Hypoglycemia, Hepatomegaly OMIM:614741
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Decreased liver function, Hypoglycemia, Small for gestational age, Elevated hepatic transaminase OMIM:615160
Insulin-Resistance Syndrome Type B
Biliary cirrhosis, Decreased body weight, Hyperinsulinemic hypoglycemia, Hirsutism, Fasting hyper... ORPHA:2298
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Small pituitary gland, Delayed puberty, Hypogonadotropic hypogonadism, Cryptorchidism OMIM:612702
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketotic hypoglycemia, Short stature, Glycosuria, Elevated hepatic transaminase, Failure to thrive... ORPHA:2089
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Gonadotropi... ORPHA:231720
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Short tibia, Short toe, Short phalanx of finger, Absent toe, Short metacarpal, Absent tibia, Camp... OMIM:612576
Hyperinsulinism Due To Hnf4A Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Glycosuria, Elevated hepatic transaminase, Large for ... ORPHA:263455
Combined Malonic And Methylmalonic Acidemia
Failure to thrive, Hypoglycemia, Elevated hepatic transaminase ORPHA:289504
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Lipodystrophy, Familial Partial, Type 1
Increased facial adipose tissue, Loss of gluteal subcutaneous adipose tissue, Increased adipose t... OMIM:608600
Glucocorticoid Resistance, Generalized
Increased serum testosterone level, Increased circulating cortisol level, Increased circulating A... OMIM:615962
Prader-Willi-Like Syndrome
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Hypopigmentat... ORPHA:398073
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Elevated circulating thyroid-stimulating hormone concentration, Small for gestational age, Type I... OMIM:274300
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hypoglycemia, Growth delay, Hepatomegaly, Splenomegaly OMIM:306000
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Adenohypophysitis
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def... ORPHA:95512
Multiple Endocrine Neoplasia, Type I
Increased circulating prolactin concentration, Parathyroid adenoma, Increased circulating cortiso... OMIM:131100
Pituitary Hormone Deficiency, Combined, 3
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Gonadotropi... OMIM:221750
Acrofacial Dysostosis Syndrome Of Rodriguez
Short tibia, 11 pairs of ribs, Triphalangeal thumb, Micrognathia, Clinodactyly, Oligodactyly, Ove... OMIM:201170
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... OMIM:245400
Propionic Acidemia
Hypoglycemia, Hepatomegaly ORPHA:35
Glucocorticoid Deficiency 2
Increased circulating ACTH level, Decreased circulating cortisol level, Recurrent hypoglycemia OMIM:607398
Combined Oxidative Phosphorylation Deficiency 52
Elevated circulating alanine aminotransferase concentration, Adrenal insufficiency, Elevated circ... OMIM:619386
Erythrokeratodermia Variabilis
Alopecia, Weight loss, Abnormal testis morphology, Short stature, Diabetes mellitus, Abnormal hai... ORPHA:317
Septo-Optic Dysplasia Spectrum
Diabetes insipidus, Anterior pituitary hypoplasia, Short stature, Maternal diabetes, Cryptorchidi... ORPHA:3157
Mcdonough Syndrome
Synophrys, Cachexia, Short stature, Cryptorchidism ORPHA:2471
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Finger syndactyly, Patellar aplasia, ... ORPHA:3329
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Obesity OMIM:618406
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Primary gonadal insufficiency, Alopecia, Sparse eyebrow, Abnormal eyebrow morphology, Decreased s... ORPHA:2232
Immunodeficiency 50
Neutropenia, Lymphopenia OMIM:300988
Laron Syndrome
Severe short stature, Delayed puberty, Hypoglycemia, Truncal obesity, Abnormality of the endocrin... ORPHA:633
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Cachexia, Weight loss OMIM:612075
Pyruvate Dehydrogenase E3 Deficiency
Hepatic failure, Elevated hepatic transaminase, Failure to thrive, Hypoglycemia, Hepatomegaly ORPHA:2394
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Wolman Disease
Hepatic failure, Adrenal insufficiency, Cachexia, Growth delay, Hepatomegaly, Adrenal calcificati... ORPHA:75233
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia, Flexion contracture ORPHA:157973
Congenital Generalized Lipodystrophy
Precocious puberty in females, Cirrhosis, Hyperinsulinemia, Insulin resistance, Adipose tissue lo... ORPHA:528
Retinitis Pigmentosa
Hyperinsulinemia, Abnormal testis morphology, Hypogonadism, Type II diabetes mellitus, Atypical s... ORPHA:791
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Failure to thrive, Hypoglycemia, Hepatomegaly, Cholestatic liver disease ORPHA:5
Alexander Disease Type I
Cachexia, Failure to thrive, Abnormal thalamic MRI signal intensity ORPHA:363717
Fanconi-Bickel Syndrome
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Abnormal hepatic gl... ORPHA:2088
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus, Lymphopenia OMIM:267500
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hyperinsulinemia, Reduced intraabdominal adipose tissue, Reduced subcutaneous adipose ... ORPHA:363400
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism, Hyperglycemia OMIM:307500
Microphthalmia With Limb Anomalies
Short tibia, Optic atrophy, Toe syndactyly, Micrognathia, Hip dislocation, Postaxial hand polydac... ORPHA:1106
Hypotonia-Cystinuria Syndrome
Decreased response to growth hormone stimulation test, Long eyelashes, Neonatal hypoglycemia, Fai... OMIM:606407
Immunodeficiency 110 With Lymphoproliferation
Neutropenia, Lymphopenia OMIM:614868
Combined Oxidative Phosphorylation Deficiency 40
Decreased circulating cortisol level, Hypoglycemia, Decreased liver function, Neonatal death, Int... OMIM:618835
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Decreased testicular size, Small pituitary gland, Cryptorchidism OMIM:614880
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatic failure, Elevated circulating alanine aminotransferase concentration, Impaired gluconeoge... OMIM:261680
Combined Oxidative Phosphorylation Deficiency 42
Decreased circulating cortisol level, Hypoglycemia, Decreased liver function, Neonatal death, Int... OMIM:618839
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Short stature, Glycosuria, Elevated hepatic transaminase, Large for gestational age, Diabetes mel... OMIM:616026
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... ORPHA:66628
Combined Oxidative Phosphorylation Deficiency 10
Small for gestational age, Failure to thrive, Hypoglycemia, Intrauterine growth retardation OMIM:614702
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Metaphyseal irregularity, Short lower limbs, Tibial bowing, Femoral bowing, Flared me... ORPHA:93356
Weismann-Netter Syndrome
Anemia, Abnormality of the humerus, Tibial bowing, Femoral bowing, Abnormal morphology of ulna, A... ORPHA:3344
Cog2-Cdg
Decreased liver function, Small pituitary gland ORPHA:435934
Congenital Disorder Of Glycosylation, Type Iiq
Small pituitary gland, Elevated hepatic transaminase OMIM:617395
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Toe syndactyly, Aplasia/hypoplasia of the femur, Postaxial hand polydactyly, Talipes equinovarus,... OMIM:228930
Mandibuloacral Dysplasia
Alopecia, Hyperinsulinemia, Contractures of the large joints, Insulin resistance, Increased adipo... ORPHA:2457
Developmental And Epileptic Encephalopathy 108
Small pituitary gland OMIM:620115
Pituicytoma
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... ORPHA:251623
Silver-Russell Syndrome Due To A Point Mutation
Hypothyroidism, Small for gestational age, Inguinal hernia, Hypoglycemia, Cryptorchidism, Intraut... ORPHA:397590
Blount Disease
Tibial bowing, Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal ti... ORPHA:2768
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... ORPHA:179494
Fg Syndrome Type 1
Short stature, Frontal upsweep of hair, Small pituitary gland, Progressive flexion contractures, ... ORPHA:93932
Combined Pituitary Hormone Deficiencies, Genetic Forms
Abnormality of secondary sexual hair, Anterior pituitary hypoplasia, Decreased response to growth... ORPHA:95494
Lipodystrophy, Familial Partial, Type 2
Hyperinsulinemia, Increased facial adipose tissue, Type II diabetes mellitus, Reduced subcutaneou... OMIM:151660
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Fasting hypoglycemia, Thick eyebrow, Decreased response to growth hormone stimulation test, Short... ORPHA:436174
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperinsulinemia, Obesity, Increased serum leptin OMIM:617885
Short Rib-Polydactyly Syndrome
Short tibia, Polydactyly, Retinopathy, Abnormal pelvis bone ossification, Limb undergrowth, Short... ORPHA:1505
Orofaciodigital Syndrome Iv
Short tibia, Toe syndactyly, Micrognathia, Foot polydactyly, Short finger, Hand polydactyly, Clin... OMIM:258860
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Hepatic necrosis, Elevated hepatic transaminase, Hyperinsulinemic hypog... ORPHA:71212
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Hypothyroidism, Short stature, Small for gestational age, Fine hair, Delayed puberty, Recurrent h... OMIM:616817
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Short stature ORPHA:364
Combined Oxidative Phosphorylation Deficiency 41
Hypoglycemia, Decreased circulating cortisol level, Intrauterine growth retardation OMIM:618838
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenogenital syndrome, Adrenal hyperplasia, Hypoglycemia OMIM:201910
Acromesomelic Dysplasia 2B
Short phalanx of finger, Deviation of finger, Malaligned carpal bone, Patellar dislocation, Rhizo... OMIM:228900
Riboflavin Transporter Deficiency
Diabetes insipidus, Cachexia, Hypogonadism ORPHA:97229
Bangstad Syndrome
Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Increased circulating cortisol l... ORPHA:1227
Deeah Syndrome
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Decreased c... OMIM:619004
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Patellar aplasia, Hand monodactyly, Absent tibia, Short hallux, Split foot, Split hand, Aplasia o... OMIM:119100
Pyruvate Carboxylase Deficiency
Hypoglycemia, Hepatomegaly OMIM:266150
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Recurrent hypoglycemia OMIM:618158
Cronkhite-Canada Syndrome
Sparse body hair, Alopecia, Dystrophic toenail, Aplasia/Hypoplasia of the eyebrow, Cachexia, Hepa... ORPHA:2930
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Hypoglycemia, Short stature, Ankle flexion contracture OMIM:618120
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Autoimmune hemolytic anemia, Lymphopenia OMIM:247800
Estrogen Resistance
Increased serum estradiol, Hyperinsulinemia, Impaired glucose tolerance, Glucose intolerance, Bre... OMIM:615363
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cirrhosis, Weight loss, Cachexia, Elevated hepatic transaminase, Hypergonadotropic hypogonadism, ... ORPHA:298
Ornithine Transcarbamylase Deficiency
Hepatic failure, Splenomegaly, Hypoglycemia ORPHA:664
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia, Short stature, Postnatal growth retardation OMIM:619489
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the thumb, Patellar aplasia, Synostosis of... ORPHA:988
Proprotein Convertase 1/3 Deficiency
Hypogonadotropic hypogonadism, Decreased circulating cortisol level, Reactive hypoglycemia, Obesity OMIM:600955
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Cirrhosis, Short stature, Elevated hepatic transaminase, Portal fibrosis, Hepat... ORPHA:264580
Adrenocortical Carcinoma
Increased serum estradiol, Hyperaldosteronism, Increased circulating cortisol level, Adrenocortic... ORPHA:1501
Silver-Russell Syndrome 1
Decreased response to growth hormone stimulation test, Small for gestational age, Testicular semi... OMIM:180860
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Flexion contracture, Reduced subcutaneous adipose tissue, Diabetes mellitu... OMIM:609069
Joubert Syndrome 38
Decreased response to growth hormone stimulation test, Short stature, Small pituitary gland, Ecto... OMIM:619476
Rabson-Mendenhall Syndrome
Hypothyroidism, Precocious puberty, Premature graying of hair, Reduced subcutaneous adipose tissu... ORPHA:769
Cholestasis, Progressive Familial Intrahepatic, 5
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Cirrhosis, Jaundice... OMIM:617049
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Short statu... ORPHA:67045
Inflammatory Pseudotumor Of The Liver
Abnormal liver sonography, Elevated circulating alanine aminotransferase concentration, Cirrhosis... ORPHA:90003
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Hand monodactyly, Absent tibia, Bifid femur, Aplasia of the ulna, Split hand, Foot monodactyly OMIM:228250
Riboflavin Deficiency
Hypoglycemia OMIM:615026
Christianson Syndrome
Thick eyebrow, Cachexia, Arthrogryposis multiplex congenita ORPHA:85278
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Hip contracture, Cachexia, Failure to thrive in infancy, Intrauterine growth retardation OMIM:616801
Pulmonary Blastoma
Weight loss ORPHA:64741
Classic Galactosemia
Hepatic failure, Jaundice, Elevated hepatic transaminase, Delayed puberty, Decreased serum insuli... ORPHA:79239
Immunodeficiency 105
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... OMIM:619924
Carnitine Deficiency, Systemic Primary
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, Im... OMIM:212140
Stuve-Wiedemann Syndrome 1
Short tibia, Short phalanx of finger, Micrognathia, Metaphyseal rarefaction, Camptodactyly, Hypop... OMIM:601559
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Failure to thrive, Focal T2 hyperintense thalamic lesion, Splenomegaly, Neonatal hypoglycemia OMIM:619046
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Hypoglycemia, Pancreatitis OMIM:620137
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia ORPHA:79159
Slc35A2-Cdg
Short tibia, Camptodactyly of finger, Hip subluxation, Coxa valga, Abnormal long bone morphology,... ORPHA:356961
Immunodeficiency 8 With Lymphoproliferation
Lymphopenia OMIM:615401
Eiken Syndrome
Short phalanx of finger, Broad foot, Short toe, Metaphyseal irregularity, Abnormal fingertip morp... ORPHA:79106
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatic failure, Periportal fibrosis, Hepatocellular necrosis, Depletion of mitochondrial DNA in ... OMIM:251880
Late-Onset Isolated Acth Deficiency
Weight loss, Hepatitis, Decreased circulating ACTH level, Decreased circulating cortisol level, P... ORPHA:199299
Septooptic Dysplasia
Diabetes insipidus, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulati... OMIM:182230
Diabetes Mellitus, Permanent Neonatal, 1
Small for gestational age, Type I diabetes mellitus, Diabetes mellitus, Hyperglycemia, Intrauteri... OMIM:606176
Zollinger-Ellison Syndrome
Pituitary corticotropic cell adenoma, Pituitary null cell adenoma, Pituitary prolactin cell adeno... ORPHA:913
Congenital Isolated Acth Deficiency
Hepatitis, Decreased circulating cortisol level, Neonatal hypoglycemia, Adrenocorticotropin defic... ORPHA:199296
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Elevated hepatic transaminase, Failure to thrive, Hypoglycemia, Growth delay, Hyperglycemia, Acut... OMIM:615453
Spinocerebellar Ataxia 48
Cachexia OMIM:618093
Pyridoxal Phosphate-Responsive Seizures
Failure to thrive, Hypoglycemia ORPHA:79096
Smith-Kingsmore Syndrome
Curly hair, Rhizomelia, Large for gestational age, Hypoglycemia, Cryptorchidism, Umbilical hernia OMIM:616638
Silver-Russell Syndrome 2
Short stature, Intrauterine growth retardation, Neonatal hypoglycemia OMIM:618905
Whipple Disease
Hypothyroidism, Cachexia, Insulin resistance, Hepatomegaly, Splenomegaly ORPHA:3452
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Elevated circulating... ORPHA:90791
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Failure to thrive, Hypoglycemia OMIM:614739
Systemic Lupus Erythematosus 17
Leukopenia, Lymphopenia, Autoimmune thrombocytopenia, Optic neuritis, Anxiety, Thrombocytopenia OMIM:301080
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Macroorchidism, Jaundice, Decreased circulating cortisol level, Increased circulating ACTH level,... ORPHA:90790
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia, Short stature ORPHA:1389
Mesomelic Dysplasia, Savarirayan Type
Metatarsus valgus, Broad tibial metaphyses, Flared radial metaphysis, Hip dislocation, Narrow ili... ORPHA:85170
Tenorio Syndrome
Hypertrichosis, Hypoglycemia, Thick eyebrow, Hypoinsulinemia OMIM:616260
Mantle Cell Lymphoma
Splenomegaly, Weight loss ORPHA:52416
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypoglycemia OMIM:618241
Familial Glucocorticoid Deficiency
Leydig cell neoplasia, Precocious puberty, Decreased circulating aldosterone level, Weight loss, ... ORPHA:361
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Hyperinsulinemia, Flexion contracture, Brittle hair, Decreased adipose tissue around ne... OMIM:608612
Metaphyseal Dysplasia, Braun-Tinschert Type
Broad tibial metaphyses, Broad femoral head, Fibular bowing, Exostoses of the radius, Hypoplasia ... ORPHA:85188
Perlman Syndrome
Hyperinsulinemia, Inguinal hernia, Hepatomegaly, Cryptorchidism, Abnormal pancreas morphology, Fe... ORPHA:2849
Galactose Epimerase Deficiency
Weight loss, Jaundice, Growth delay, Hepatomegaly, Splenomegaly ORPHA:79238
Mitochondrial Complex I Deficiency, Nuclear Type 33
Small for gestational age, Hypoglycemia, Sparse hair, Intrauterine growth retardation OMIM:618253
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:610006
Hypertriglyceridemia 1
Hypopituitarism, Glucose intolerance OMIM:145750
Hyperlipoproteinemia, Type Iv
Hypopituitarism, Glucose intolerance OMIM:144600
Pyridoxine-Dependent Epilepsy
Hypoglycemia ORPHA:3006
Pituitary Apoplexy
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... ORPHA:95613
Tetrasomy 12P
Sparse eyebrow, Cachexia, Sparse hair, Short stature ORPHA:884
Hypoadrenocorticism, Familial
Adrenal insufficiency, Hypoglycemia, Adrenal hypoplasia OMIM:240200
Mpi-Cdg
Hypothyroidism, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Failure to thrive, Hepatomegaly,... ORPHA:79319
Bannayan-Riley-Ruvalcaba Syndrome
Neoplasm of the adrenal cortex, Thyroid carcinoma, Short stature, Cachexia, Hashimoto thyroiditis... ORPHA:109
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenome... ORPHA:444463
Cog8-Cdg
Failure to thrive, Hypoglycemia, Elevated hepatic transaminase ORPHA:95428
Familial Renal Glucosuria
Glycosuria, Insulin resistance, Moderate postnatal growth retardation, Hyperglycemia, Abnormal or... ORPHA:69076
Hsd10 Mitochondrial Disease
Hypoglycemia OMIM:300438
Desmoplastic Small Round Cell Tumor
Weight loss, Neoplasm of the pancreas, Cachexia, Abnormality of the peritoneum, Hepatomegaly, Tes... ORPHA:83469
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia, Generalized hirsutism, Short stature ORPHA:1933
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia ORPHA:156
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatic fibrosis, Cirrhosis, Ketotic hypoglycemia, Short stature, Elevated hepatic transaminase, ... ORPHA:79240
Propionic Acidemia
Short stature, Failure to thrive, Hypoglycemia, Hepatomegaly, Pancreatitis OMIM:606054
Tsh-Secreting Pituitary Adenoma
Enlarged pituitary gland, Euthyroid hyperthyroxinemia, Increased circulating gonadotropin level, ... ORPHA:91347
19Q13.11 Microdeletion Syndrome
Sparse lateral eyebrow, Cachexia, Supernumerary nipple, Fine hair, Failure to thrive, Growth dela... ORPHA:217346
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Knee flexion contracture, Hip contracture, Short stature, Elbow flexion contracture, Cachexia, Se... ORPHA:371364
Neuropathy, Congenital Hypomyelinating, 3
Limb joint contracture, Cachexia, Flexion contracture, Arthrogryposis multiplex congenita OMIM:618186
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Metaphyseal cupping, Coxa vara, Rhizomelia, Short metacarpal, Cone/cone... OMIM:608940
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Hepatocellular carcinoma, Hepatic steatosis, Hypoglycemia, Hepatomegaly, Elevated circulating ala... OMIM:256810
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Hepatic necrosis, Hepatic steatosis, Hypoglycemic seizures, Growth dela... OMIM:231530
Infantile Liver Failure Syndrome 2
Jaundice, Acute hepatic failure, Elevated hepatic transaminase, Hypoglycemia OMIM:616483
Immunodeficiency 21
Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ly... OMIM:614172
Congenital Disorder Of Glycosylation, Type It
Elevated circulating alanine aminotransferase concentration, Short stature, Hepatitis, Elevated h... OMIM:614921
Robin Sequence With Cleft Mandible And Limb Anomalies
Short tibia, Short phalanx of finger, Hip subluxation, Mesomelic leg shortening, Short 5th finger... OMIM:268305
Microcephaly-Micromelia Syndrome
Short tibia, Absent thumb, Humeroradial synostosis, Micrognathia, Missing ribs, Absent radius, Ol... OMIM:251230
Mandibuloacral Dysplasia With Type A Lipodystrophy
Alopecia, Hyperinsulinemia, Flexion contracture, Increased facial adipose tissue, Sparse scalp ha... OMIM:248370
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Hypothyroidism, Short stature, Failure to thrive, Hypoglycemia, Hirsutism, Joint contracture, Int... OMIM:618005
Malonyl-Coa Decarboxylase Deficiency
Hypoglycemia, Short stature OMIM:248360
Immunodeficiency, Common Variable, 10
Decreased response to growth hormone stimulation test, Abnormal response to ACTH stimulation test... OMIM:615577
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatic fibrosis, Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Portal fibr... ORPHA:370
Vipoma
Intermittent jaundice, Extrahepatic cholestasis, Increased circulating prolactin concentration, P... ORPHA:97282
Bullous Pemphigoid
Diabetes mellitus, Weight loss ORPHA:703
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, Decreased proporti... OMIM:617514
Estrogen Resistance Syndrome
Hyperinsulinemia, Abnormality of the pubic hair, Enlarged polycystic ovaries, Absence of secondar... ORPHA:785
Somatostatinoma
Intermittent jaundice, Extrahepatic cholestasis, Increased circulating prolactin concentration, P... ORPHA:97283
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Hypoglycemia, Failure to thrive OMIM:210200
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Small for gestational age, Type I diabetes mellitus, Hyperglycemia OMIM:618858
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Coxa vara, Micrognathia, Hip dysplasia, Preaxial foot polydactyl... ORPHA:1988
Laurin-Sandrow Syndrome
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Limb duplication... ORPHA:2378
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly, Short stature ORPHA:66518
Tuberculosis
Weight loss ORPHA:3389
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatic steatosis, Hypoglycemia, Elevated hepatic transaminase, Hepatomegaly OMIM:201450
Multiple Epiphyseal Dysplasia, Lowry Type
Knee flexion contracture, Genu valgum, Rhizomelia, Micrognathia, Fragmented epiphyses, Epiphyseal... ORPHA:166016
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hypoketotic hypoglycemia, Elevated hepatic transaminase, Macrovesicular hepatic steatosis, Hepato... OMIM:600649
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Short phalanx of finger, Aplasia/hypoplasia of the femur, Micrognathia, Flared iliac wing, Toe sy... OMIM:609945
Multiple Endocrine Neoplasia Type 4
Pituitary corticotropic cell adenoma, Parathyroid adenoma, Hyperinsulinemic hypoglycemia, Pituita... ORPHA:276152
Immunodeficiency 76
Lymphopenia, Splenomegaly, T lymphocytopenia, B lymphocytopenia OMIM:619164
Thymic Neuroendocrine Tumor
Increased circulating prolactin concentration, Neoplasm of the thymus, Neoplasm of the endocrine ... ORPHA:97289
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cleft upper lip, Cone-shaped epiphysis, Postaxial polydactyly, Short ribs, Short long bone, Absen... OMIM:613091
Meningioma
Enlarged pituitary gland, Decreased circulating follicle stimulating hormone concentration, Incre... ORPHA:2495
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Metaphyseal cupping, Coxa vara, Rhizomelia, Radial bowing, Flared iliac wing, Ulnar b... OMIM:602111
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Failure to thrive, Hypoglycemia, Pancreatitis, Hepatomegaly OMIM:251000
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Leprechaunism
Central hypothyroidism, Hyperinsulinemia, Hyperaldosteronism, Decreased body weight, Reduced subc... ORPHA:508
Ring Chromosome 10 Syndrome
Cachexia, Intrauterine growth retardation ORPHA:1438
Timothy Syndrome
Hypothyroidism, Hypoglycemia OMIM:601005
Primary Pigmented Nodular Adrenocortical Disease
Alopecia, Increased circulating cortisol level, Abnormal subcutaneous fat tissue distribution, Ty... ORPHA:189439
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Cirrhosis, Insulin resistance, Hepatic steatosis, Acute pancreatitis, Polycysti... ORPHA:79086
Carcinoma Of Esophagus
Obesity, Weight loss ORPHA:70482
Graves Disease, Susceptibility To, 1
Weight loss, Increased circulating free T3, Decreased thyroid-stimulating hormone level, Graves d... OMIM:275000
Majeed Syndrome
Flexion contracture, Weight loss, Cachexia, Failure to thrive, Hepatomegaly, Splenomegaly ORPHA:77297
Histidinuria-Renal Tubular Defect Syndrome
Hypoglycemia ORPHA:2158
Symptomatic Form Of Hemochromatosis Type 1
Hypothyroidism, Cirrhosis, Weight loss, Hyperglycemia, Cholangiocarcinoma, Hepatocellular carcino... ORPHA:465508
Bachmann-Bupp Syndrome
Sparse scalp hair, Large for gestational age, Hypoglycemia, Absent eyebrow, Cryptorchidism, Spars... OMIM:619075
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Short tibia, Rhizomelia, Short ribs, Short long bone, Flat acetabular roof, Microretrognathia, In... OMIM:616300
Short Syndrome
Alopecia, Weight loss, Insulin resistance, Diabetes mellitus, Inguinal hernia, Lipodystrophy, Sev... ORPHA:3163
Immunodeficiency 95
Lymphopenia OMIM:619773
X-Linked Intellectual Disability, Cabezas Type
Camptodactyly of finger, Hypogonadism, Short stature, Decreased testicular size, Synophrys, Cache... ORPHA:85293
Immunodeficiency 13
Decreased CD4:CD8 ratio, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Decreased proportion ... OMIM:615518
Acromelic Frontonasal Dysostosis
Short tibia, Polydactyly, Cleft upper lip, Patellar hypoplasia, Preaxial foot polydactyly, Optic ... OMIM:603671
Glycogen Storage Disease Ixd
Hypoglycemia OMIM:300559
Atelosteogenesis Type Iii
Short tibia, Patellar dislocation, Vertebral hypoplasia, Short tubular bones of the hand, Microgn... ORPHA:56305
Congenital Disorder Of Glycosylation, Type Iie
Elevated circulating alanine aminotransferase concentration, Short stature, Jaundice, Elevated ci... OMIM:608779
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Small for gestational age, Neonatal hypoglycemia, Failure to thrive, Hypoglycemia, Neonatal death... OMIM:619055
Isolated Exencephaly
Posterior pituitary agenesis, Anterior pituitary hypoplasia, Maternal diabetes ORPHA:563612
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypothyroidism, Alopecia, Hyperthyroidism, Hepatitis, Thyroiditis, Cachexia, Elevated hepatic tra... ORPHA:37042
Bent Bone Dysplasia Syndrome 2
Short tibia, Short sternum, Hypoplastic iliac wing, Hypoplastic acetabulae, Short 1st metacarpal,... OMIM:620076
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Increased circulating prolactin concentration, Hypogonadism, Hyperpitui... ORPHA:91351
Acheiropodia
Aplasia of the ulna, Upper limb phocomelia, Absent radius, Abnormal metaphysis morphology, Abnorm... ORPHA:931
Addison Disease
Thymoma, Primary testicular failure, Decreased circulating aldosterone level, Weight loss, Sparse... ORPHA:85138
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Anterior pituitary hypoplasia, Synophrys, Long eyelashes, Hypertrichosis, Pituitary hypothyroidism OMIM:619983
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Cachexia ORPHA:2774
Carnitine Palmitoyltransferase I Deficiency
Hypoketotic hypoglycemia, Elevated circulating alanine aminotransferase concentration, Elevated h... OMIM:255120
Mirage Syndrome
Decreased body weight, Short stature, Adrenal insufficiency, Decreased testicular size, Hypoglyce... OMIM:617053
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Alopecia, Hyperaldosteronism, Increased circulating cortisol level, Macronodular adrenal hyperpla... ORPHA:189427
Acute Adrenal Insufficiency
Decreased circulating aldosterone level, Weight loss, Sparse axillary hair, Increased circulating... ORPHA:95409
Culler-Jones Syndrome
Diabetes insipidus, Anterior pituitary hypoplasia, Hypogonadism, Short stature, Hypopituitarism, ... OMIM:615849
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Cirrhosis, Microvesicular hepatic steatosis, Polysplenia, Macronodular cirrhosis, Neonatal hypogl... OMIM:619418
Glutaric Acidemia I
Failure to thrive, Hypoglycemia, Hepatomegaly OMIM:231670
Chromosome 14Q11-Q22 Deletion Syndrome
Anterior pituitary hypoplasia, Elevated circulating thyroid-stimulating hormone concentration, Bi... OMIM:613457
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia OMIM:616095
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Alstrom Syndrome
Hypothyroidism, Diabetes insipidus, Hyperinsulinemia, Decreased response to growth hormone stimul... OMIM:203800
Xfe Progeroid Syndrome
Enamel hypoplasia, Corneal scarring, Cachexia, Elevated hepatic transaminase, Failure to thrive, ... OMIM:610965
Laryngotracheoesophageal Cleft Type 4
Abnormality of the spleen, Cachexia, Abnormality of mesentery morphology ORPHA:93941
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Neonatal hypoglycemia, Hepatic steatosis, Hypoglycemia, Hepatomegaly OMIM:212138
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Synostosis of carpal bones, Ulnar deviation of finger, Hypoplasia of the ulna, Abnormal morpholog... ORPHA:2634
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Glycogen Storage Disease Ia
Short stature, Elevated hepatic transaminase, Hepatocellular carcinoma, Delayed puberty, Hypoglyc... OMIM:232200
Isolated Complex I Deficiency
Diabetes mellitus, Hypoglycemia, Failure to thrive, Hepatomegaly, Intrauterine growth retardation ORPHA:2609
D-Glyceric Aciduria
Failure to thrive, Hypoglycemia, Growth delay OMIM:220120
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hyperthyroidism, Weight loss, Increased circulating T4 concentration, Decreased thyroid-stimulati... OMIM:613239
Idiopathic Achalasia
Weight loss ORPHA:930
Multiple Acyl-Coa Dehydrogenase Deficiency
Glycosuria, Jaundice, Hepatic steatosis, Hypoglycemia, Hepatomegaly, Neonatal death, Hepatic peri... OMIM:231680
Undifferentiated Pleomorphic Sarcoma
Abnormality of the peritoneum, Weight loss ORPHA:2023
Pelizaeus-Merzbacher Disease
Cachexia, Failure to thrive in infancy, Short stature ORPHA:702
Primary Myelofibrosis
Cachexia, Hepatosplenomegaly, Hepatomegaly, Portal hypertension, Splenomegaly ORPHA:824
Transcobalamin Deficiency
Thrombocytopenia, Neutropenia, Pancytopenia, Lymphopenia ORPHA:859
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Diabetes insipidus, Increased circulating prolactin concentration, Ante... ORPHA:91350
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Coxa valga, Patellar dislocation, Finger syndactyly, Tibial torsion, Micrognathia, Hi... ORPHA:3320
Intellectual Developmental Disorder, Autosomal Dominant 35
Hypoglycemia, Intrauterine growth retardation OMIM:616355
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Disproportionate shortening of the tibia, Preaxial hand polydactyly, Short ribs, Short long bone,... OMIM:263520
Mitochondrial Trifunctional Protein Deficiency 1
Hypoketotic hypoglycemia, Small for gestational age, Elevated hepatic transaminase, Elevated circ... OMIM:609015
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Failure to thrive, Hypoglycemia, Bile duct proliferation, Decrease... OMIM:618329
Tropical Pancreatitis
Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Weight loss... ORPHA:103918
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Small pituitary gland OMIM:614195
Congenital Disorder Of Glycosylation, Type Ib
Hepatic failure, Hepatic fibrosis, Cirrhosis, Hyperinsulinemic hypoglycemia, Failure to thrive, H... OMIM:602579
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hepatic failure, Microvesicular hepatic steatosis, Cirrhosis, Jaundice, Elevated hepatic transami... OMIM:617156
Acromesomelic Dysplasia 3
Aplasia of the proximal phalanx of the 2nd finger, Broad foot, Short phalanx of finger, Short toe... OMIM:609441
Insulin-Like Growth Factor I Deficiency
Decreased body weight, Short stature, Decreased serum insulin-like growth factor 1, Elevated circ... OMIM:608747
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hepatic failure, Microvesicular hepatic steatosis, Elevated hepatic transaminase, Hypoglycemia OMIM:611126
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Neonatal hypoglycemia, Hepatic steatosis, Hypoglycemia, Hepatomega... ORPHA:348
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
2-3 toe syndactyly, Aggressive behavior, Lymphopenia, Thin vermilion border, Irritability ORPHA:391307
Orofaciodigital Syndrome Type 2
Short tibia, Broad first metatarsal, Mesomelic leg shortening, Finger syndactyly, Central retinal... ORPHA:2751
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Decreased circulating aldosterone level, Increased circulating cortisol level... ORPHA:786
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Short tibia, Coxa valga, Micrognathia, Epiphyseal stippling, Camptodactyly, Hepatosplenomegaly, M... ORPHA:96334
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased proportion of CD4+C... OMIM:619846
Non-Functioning Pituitary Adenoma
Anterior hypopituitarism, Adrenal insufficiency, Increased circulating gonadotropin level, Second... ORPHA:91349
Nephrotic Syndrome, Type 14
Hypothyroidism, Hypogonadism, Adrenal insufficiency, Hypoglycemia, Cryptorchidism OMIM:617575
Glucagonoma
Intermittent jaundice, Extrahepatic cholestasis, Increased circulating prolactin concentration, P... ORPHA:97280
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hypoglycemia, Hepatomegaly OMIM:246450
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Hypoglycemia, Intrauterine growth retardation OMIM:617710
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Hyperinsulinemia, Reduced intraabdominal adipose tissue, Insulin-resistant diabetes me... OMIM:608594
Familial Pancreatic Carcinoma
Pancreatic adenocarcinoma, Extrahepatic cholestasis, Peritoneal abscess, Weight loss, Neoplasm of... ORPHA:1333
Maple Syrup Urine Disease
Hypoglycemia, Pancreatitis OMIM:248600
Fructose-1,6-Bisphosphatase Deficiency
Hypoglycemia, Hepatomegaly OMIM:229700
Beta-Ketothiolase Deficiency
Weight loss, Hypoglycemia, Hyperglycemia, Hepatomegaly ORPHA:134
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split foot, Brachydactyly, Fibular apl... OMIM:113310
Acromelic Frontonasal Dysplasia
Midline central nervous system lipomas, Anterior pituitary hypoplasia, Hypopituitarism, Cryptorch... ORPHA:1827
Faciocardiomelic Dysplasia, Lethal
Short 5th finger, Hypoplasia of the radius, Micrognathia, Hypoplasia of the ulna, Talipes, Short ... OMIM:227270
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Flexion contracture, Elevated hepatic transaminase, Insulin resistance, Hepatic... OMIM:613327
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Clinodactyly of the 5th finger, Chorioretinal coloboma, Lymphopenia ORPHA:1116
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Patellar hypoplasia, Preaxial foot polydactyly, Absent tibia, Mirror image foot polydactyly, Bila... OMIM:119800
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Precocious puberty, Decreased response to growth hormone stimulation test, Small for gestational ... ORPHA:96182
Intellectual Developmental Disorder, Autosomal Dominant 45
Slender build, Neonatal hypoglycemia OMIM:617600
Hydranencephaly
Thalamic edema, Atrophic pituitary gland, Dysgenesis of the thalamus, Intrauterine growth retarda... ORPHA:2177
Shashi-Pena Syndrome
Synophrys, Long eyelashes, Hypoglycemia, Intrauterine growth retardation, Highly arched eyebrow, ... OMIM:617190
Microphthalmia With Limb Anomalies
Cleft upper lip, Foot oligodactyly, Capitate-hamate fusion, 2-5 toe syndactyly, Toe syndactyly, H... OMIM:206920
Medullary Thyroid Carcinoma
Weight loss, Nodular goiter, Pheochromocytoma, Elevated calcitonin, Medullary thyroid carcinoma, ... ORPHA:1332
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss, Splenomegaly, Hepatomegaly ORPHA:86893
Hereditary Central Diabetes Insipidus
Diabetes insipidus, Growth delay, Weight loss ORPHA:30925
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Small pituitary gland, Disproportionate short-limb short stature, Flexion contracture, Hypertrich... OMIM:619479
Ppoma
Intermittent jaundice, Extrahepatic cholestasis, Increased circulating prolactin concentration, P... ORPHA:97278
Benign Recurrent Intrahepatic Cholestasis
Cholelithiasis, Cirrhosis, Weight loss, Jaundice, Hepatocellular carcinoma, Elevated hepatic tran... ORPHA:65682
X-Linked Dominant Chondrodysplasia Punctata
Sparse eyebrow, Flexion contracture, Short stature, Scarring alopecia of scalp, Neonatal hypoglyc... ORPHA:35173
Mitochondrial Trifunctional Protein Deficiency
Hypoketotic hypoglycemia, Diffuse hepatic steatosis, Chronic hepatic failure, Hypoparathyroidism,... ORPHA:746
Basilicata-Akhtar Syndrome
Precocious puberty, Camptodactyly, Neonatal hypoglycemia OMIM:301032
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Absence of secondary... ORPHA:289548
Tyrosinemia, Type I
Cirrhosis, Hepatic failure, Elevated hepatic transaminase, Hepatocellular carcinoma, Failure to t... OMIM:276700
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Hepatocellular necrosis, Nonketotic hypoglycemia, Hepatic steatosis, Hepatom... OMIM:201475
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Knee flexion contracture, Elevated circulating alanine aminotransferase concentration, Nonketotic... OMIM:608836
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Insulin resistance, Hypoglycemia ORPHA:230
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hypoketotic hypoglycemia, Hepatic failure, Elevated hepatic transaminase, Hepatic steatosis, Hepa... ORPHA:228305
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Absence of secondary... ORPHA:168558
Hepatocellular Carcinoma
Abnormality of the liver, Weight loss, Liver abscess, Hepatic necrosis, Jaundice, Type II diabete... ORPHA:88673
Huntington Disease-Like 2
Weight loss ORPHA:98934
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Medial flaring of the eyebrow, Flexion contracture, Synophrys, Reduced subcutaneous adipose tissu... OMIM:619503
Cockayne Syndrome
Enamel hypoplasia, Dry hair, Contractures of the large joints, Reduced subcutaneous adipose tissu... ORPHA:191
Resistance To Thyrotropin-Releasing Hormone Syndrome
Increased circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone c... ORPHA:99832
Kabuki Syndrome 2
Sparse lateral eyebrow, Decreased body weight, Short stature, Long eyelashes, Neonatal hypoglycem... OMIM:300867
Juvenile Amyotrophic Lateral Sclerosis
Lower-limb joint contracture, Cachexia, Upper-limb joint contracture ORPHA:300605
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Decreased circulating aldosterone level, Decreased circulating cortisol level, Primary adrenal in... ORPHA:90794
Lysosomal Acid Lipase Deficiency
Hepatic fibrosis, Hepatic failure, Microvesicular hepatic steatosis, Weight loss, Hypersplenism, ... ORPHA:275761
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Curly hair, Large for gestational age, Neonatal hypoglycemia, Cryptorchidism ORPHA:457485
Immunodeficiency 59 And Hypoglycemia
High anterior hairline, Short stature, Hypoglycemia, Hepatomegaly, Prolonged neonatal jaundice OMIM:233600
Glycogen Storage Disease Ib
Splenomegaly, Short stature, Elevated hepatic transaminase, Hepatocellular carcinoma, Delayed pub... OMIM:232220
Immunodeficiency 97 With Autoinflammation
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... OMIM:619802
Lipodystrophy, Congenital Generalized, Type 2
Cirrhosis, Hyperinsulinemia, Reduced intraabdominal adipose tissue, Insulin-resistant diabetes me... OMIM:269700
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Failure to thrive, Hypoglycemia, Alopecia OMIM:210210
Acyl-Coa Dehydrogenase 9 Deficiency
Nonketotic hypoglycemia, Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Acu... ORPHA:99901
Congenital Disorder Of Glycosylation, Type Im
Hypoketotic hypoglycemia, Sparse eyebrow, Alopecia, Failure to thrive, Sparse eyelashes OMIM:610768
Noonan Syndrome 12
11 pairs of ribs, Thrombocytopenia, Proximal placement of thumb, Lymphopenia OMIM:618624
X-Linked Creatine Transporter Deficiency
Cachexia, Short stature ORPHA:52503
Omodysplasia 1
Short tibia, Limited knee flexion/extension, Anterolateral radial head dislocation, Rhizomelia, M... OMIM:258315
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Broad lateral eyebrow, Obesity, Long eyelashes, Neonatal hypoglycemia OMIM:608624
Hodgkin Lymphoma
Weight loss, Splenomegaly, Hepatomegaly ORPHA:98293
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Shoulder dislocation, Genu varum, Aplasia/Hypoplasia of the thumb, Asymmetric radial dysplasia, R... OMIM:171480
Lenz-Majewski Hyperostotic Dwarfism
Knee flexion contracture, Enamel hypoplasia, Anterior pituitary hypoplasia, Short stature, Elbow ... OMIM:151050
Poems Syndrome
Hypothyroidism, Increased circulating prolactin concentration, Leukonychia, Hypogonadism, Weight ... ORPHA:2905
Rett Syndrome
Cachexia, Short stature OMIM:312750
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Microvesicular hepatic steatosis, Periportal fibrosis, Hyperglycemia, Brittle hair, Elevated hepa... OMIM:124000
Fryns-Smeets-Thiry Syndrome
Cachexia, Short stature ORPHA:2058
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Alopecia, Cachexia, Nail dystrophy OMIM:175500
Eiken Syndrome
Broad femoral neck, Pseudoepiphyses, Thick lower lip vermilion, Long hallux, Narrow pelvis bone, ... OMIM:600002
Celiac Disease, Susceptibility To, 1
Alopecia, Enamel hypoplasia, Weight loss, Short stature, Thyroiditis, Elevated hepatic transamina... OMIM:212750
Dilated Cardiomyopathy With Ataxia
Hypothyroidism, Microvesicular hepatic steatosis, Bilateral cryptorchidism, Elevated hepatic tran... ORPHA:66634
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Hepatic failure, Elevated hepatic transaminase, Intrauterine growth retardation, Hypoglycemia OMIM:619355
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss, Hepatomegaly ORPHA:2198
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Flexion contracture, Decreased response to growth hormone stimulation test, Short stature, Hypogl... OMIM:616007
Hsd10 Disease, Infantile Type
Hypoglycemia ORPHA:391428
Grfoma
Intermittent jaundice, Extrahepatic cholestasis, Increased circulating prolactin concentration, N... ORPHA:97261
Seckel Syndrome 10
Elevated circulating alanine aminotransferase concentration, Impaired glucose tolerance, Glycosur... OMIM:617253
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
T lymphocytopenia, Lymphocytosis, Decreased proportion of CD3-positive T cells, Decreased proport... ORPHA:169154
Prader-Willi Syndrome Due To Translocation
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Short statu... ORPHA:177907
Ataxia-Telangiectasia
Ataxia, Cognitive impairment, Lymphopenia, Gait disturbance ORPHA:100
Isolated Permanent Neonatal Diabetes Mellitus
Pancreatic hypoplasia, Lower-limb joint contracture, Reduced pancreatic beta cells, Neonatal insu... ORPHA:99885
Tibial Hemimelia
Absent tibia OMIM:275220
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutrophil chemotaxis, ... OMIM:618986
Leigh Syndrome
Alopecia, Hepatic failure, Multiple joint contractures, Frontal hirsutism, Failure to thrive, Hyp... ORPHA:506
Rajab Interstitial Lung Disease With Brain Calcifications 1
Cirrhosis, Slender build, Short stature, Small for gestational age, Elevated hepatic transaminase... OMIM:613658
Hypercalcemia, Infantile, 1
Failure to thrive, Decreased circulating parathyroid hormone level, Weight loss OMIM:143880
3-Methylglutaconic Aciduria Type 7
Hypothyroidism, Elevated hepatic transaminase, Neonatal hypoglycemia, Hepatic steatosis, Growth d... ORPHA:445038
Trisomy 18
Camptodactyly of finger, Hernia, Short stature, Cachexia, Congenital diaphragmatic hernia, Growth... ORPHA:3380
Aica-Ribosuria Due To Atic Deficiency
Hypoglycemia OMIM:608688
Dyrk1A-Related Intellectual Disability Syndrome
Anterior pituitary hypoplasia, Multiple joint contractures, Short stature, Small for gestational ... ORPHA:464306
Orthostatic Hypotension 1
Neonatal hypoglycemia, Reduced circulating prolactin concentration OMIM:223360
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Acute pancreatitis, Hypoglycemia, Hepatomegaly, Decreased liver fu... ORPHA:26791
Adult Idiopathic Neutropenia
Monocytopenia, Lymphopenia, Abnormal neutrophil count, Monocytosis, Neutropenia ORPHA:2688
Seckel Syndrome
Sparse scalp hair, Short stature, Cachexia, Intrauterine growth retardation, Abnormal dental enam... ORPHA:808
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Small for gestational age, Jaundice, Elevated hepatic transaminase, Ove... ORPHA:26793
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypothyroidism, Short stature, Thyroiditis, Hepatocellular carcinoma, Hepatic steatosis, Increase... ORPHA:79259
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Lymphopenia, Pancytopenia, Thrombocytosis, Macrocytic anemia, Hypersegmenta... OMIM:617780
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Short tibia, Hypoplastic pubic bone, Short ribs, Short long bone, Micrognathia, Preaxial polydact... OMIM:617925
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Immunodeficiency 44
Lymphopenia OMIM:616636
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Precocious puberty, Synophrys, Hepatosplenomegaly, Cholecystitis, Hypoglycemia, Hepatomegaly, Obe... OMIM:301066
Bone Dysplasia, Lethal Holmgren Type
Hernia, Rhizomelia, Weight loss, Failure to thrive, Severe short-limb dwarfism, Hepatomegaly ORPHA:1842
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Small for gestational age, Hypoglycemia, Umbilical hernia OMIM:614501
Infantile Krabbe Disease
Failure to thrive, Cachexia ORPHA:206436
Saul-Wilson Syndrome
Coxa valga, Short metacarpal, Enlarged epiphyses, Micrognathia, Hypoplasia of the odontoid proces... OMIM:618150
Perlman Syndrome
Large for gestational age, Pancreatic islet-cell hyperplasia, Congenital diaphragmatic hernia, Hy... OMIM:267000
Hirschsprung Disease
Neoplasm of the thyroid gland, Failure to thrive in infancy, Short stature, Weight loss ORPHA:388
Generalized Pseudohypoaldosteronism Type 1
Glucocortocoid-insensitive primary hyperaldosteronism, Weight loss, Increased circulating renin l... ORPHA:171876
Carnitine-Acylcarnitine Translocase Deficiency
Hypoketotic hypoglycemia, Hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Fasting h... ORPHA:159
Schwartz-Jampel Syndrome
Wrist flexion contracture, Abnormal eyebrow morphology, Decreased body weight, Hip contracture, S... ORPHA:800
Omodysplasia 2
Rhizomelic arm shortening, Broad femoral neck, Short 1st metacarpal, Bilateral cleft lip, Microgn... OMIM:164745
Mu-Heavy Chain Disease
Weight loss, Splenomegaly, Hepatomegaly ORPHA:100024
Bronchial Neuroendocrine Tumor
Hepatic failure, Increased circulating cortisol level, Weight loss, Increased circulating ACTH le... ORPHA:97287
Sotos Syndrome
High anterior hairline, Sparse eyebrow, Neonatal hypoglycemia, Cryptorchidism, Prolonged neonatal... OMIM:117550
Chronic Hiccup
Weight loss ORPHA:396
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic cysts, Pancreatic hypoplasia, Hepatic fibrosis, Elevated circulating thyroid-stimulati... OMIM:610199
Lymphangiectasia, Intestinal
Pedal edema, Lymphopenia OMIM:152800
3-Methylglutaconic Aciduria, Type Viib
Flexion contracture, Rhizomelia, Neonatal hypoglycemia, Hepatic steatosis, Growth delay, Intraute... OMIM:616271
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lymphopenia, T lymphocytopenia, B lymphocytopenia ORPHA:277
3-Hydroxy-3-Methylglutaric Aciduria
Weight loss, Jaundice, Nonketotic hypoglycemia, Elevated hepatic transaminase, Acute pancreatitis... ORPHA:20
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Alg12-Cdg
Elevated hepatic transaminase, Camptodactyly, Failure to thrive, Decreased serum insulin-like gro... ORPHA:79324
Ophthalmomandibulomelic Dysplasia
Coxa valga, Radial bowing, Lateral humeral condyle aplasia, Mesomelia, Fibular hypoplasia OMIM:164900
Wilson Disease
Cirrhosis, Weight loss, Hepatitis, Jaundice, Elevated hepatic transaminase, Hepatic steatosis, Fa... ORPHA:905
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hypothyroidism, Hepatic fibrosis, Short stature, Achilles tendon contracture, Hepatic steatosis, ... OMIM:616263
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Compensated hypothyroidism, Hypoglycemia, Elevated hepatic transaminase, Hypoglycemic seizures ORPHA:480864
Combined Oxidative Phosphorylation Defect Type 39
Intrauterine growth retardation, Congenital foot contractures, Neonatal hypoglycemia, Cryptorchidism ORPHA:565624
Isaacs Syndrome
Weight loss ORPHA:84142
Pseudomyxoma Peritonei
Hernia, Abnormality of the peritoneum, Weight loss ORPHA:26790
Reticular Dysgenesis
Aplasia/Hypoplasia of the thymus, Failure to thrive, Weight loss ORPHA:33355
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Thrombocytopenia, Hemolytic anemia, Lymphopenia OMIM:616744
Hemochromatosis, Type 3
Anemia, Neutropenia, Lymphopenia OMIM:604250
Holoprosencephaly
Diabetes insipidus, Anterior hypopituitarism, Synophrys, Panhypopituitarism, Diabetes mellitus, H... ORPHA:2162
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Hypothyroidism, Premature thelarche, Elevated hepatic transaminase, Hypoglycemia, Premature pubarche OMIM:616878
Microsporidiosis
Weight loss, Hepatitis, Peritonitis, Thyroiditis, Cachexia, Biliary tract abnormality, Cholangiti... ORPHA:2552
Sneddon Syndrome
Lymphopenia, Mental deterioration OMIM:182410
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Short stature, Cachexia, Abnormality of the thyroid gland ORPHA:1969
Immunodeficiency 85 And Autoimmunity
Reduced natural killer cell count, T lymphocytopenia, Lymphopenia, Decreased proportion of memory... OMIM:619510
Immunodeficiency 49
T lymphocytopenia, Micrognathia, Decreased proportion of naive CD4 T cells, Lymphopenia, Abnormal... OMIM:617237
Microphthalmia, Syndromic 3
Anterior pituitary hypoplasia, Short stature, Cryptorchidism, Hypogonadotropic hypogonadism, Hypo... OMIM:206900
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Hypoglycemia, Supernumerary nipple, Contracture of the proximal interphalangeal joint of the 4th toe ORPHA:457279
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Flexion contracture, Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Hypogly... ORPHA:17
Bone Marrow Failure Syndrome 6
Anemia, Lymphopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia OMIM:618849
Fructose Intolerance, Hereditary
Cirrhosis, Glycosuria, Jaundice, Elevated hepatic transaminase, Hepatic steatosis, Failure to thr... OMIM:229600
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, Increased proportion of transitional B cells, B lymphocytopenia, Decr... OMIM:616005
Isolated Arrhinia
Underdeveloped nasal alae, Aplasia of the nose, Absent nasal septal cartilage, Midline defect of ... ORPHA:1134
Camurati-Engelmann Disease
Hypogonadism, Abnormal subcutaneous fat tissue distribution, Cachexia, Delayed puberty, Hepatomeg... ORPHA:1328
Shigellosis
Hepatic failure, Hypoglycemia, Cholestasis, Peritonitis, Failure to thrive in infancy, Splenic ab... ORPHA:810
Cartilage-Hair Hypoplasia
Metaphyseal dysplasia, Anemia, Metaphyseal cupping, Coxa vara, Hypoplasia of the odontoid process... OMIM:250250
Central Diabetes Insipidus
Diabetes insipidus, Failure to thrive, Weight loss ORPHA:178029
Neuroendocrine Tumor Of The Colon
Weight loss, Increased serum serotonin, Atypical pulmonary carcinoid tumor, Elevated hepatic tran... ORPHA:100080
Mast Cell Sarcoma
Weight loss, Splenomegaly, Hepatomegaly ORPHA:66661
Kyphomelic Dysplasia
Cleft upper lip, Short metacarpal, Micrognathia, Radial bowing, Flat acetabular roof, Ulnar bowin... OMIM:211350
Multiple Endocrine Neoplasia Type 1
Pituitary thyrotropic cell adenoma, Pituitary corticotropic cell adenoma, Neoplasm of the pancrea... ORPHA:652
Visceral Steatosis, Congenital
Hepatic steatosis, Jaundice, Neonatal death, Hypoglycemia OMIM:228100
Primary Hepatic Neuroendocrine Carcinoma
Intermittent jaundice, Weight loss, Neoplasm of the liver, Increased serum serotonin, Elevated he... ORPHA:100085
Pfapa Syndrome
Weight loss, Splenomegaly, Hepatomegaly ORPHA:42642
Pyruvate Carboxylase Deficiency
Failure to thrive, Hypoglycemia, Growth delay, Hepatomegaly, Hyperglycemia ORPHA:3008
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Anemia, Cognitive impairment, Lymphopenia, Long fibula, Abnormal metaphysis morphology ORPHA:935
Atypical Werner Syndrome
Decreased body weight, Abnormal testis morphology, Premature graying of hair, Hepatic steatosis, ... ORPHA:79474
Pleural Mesothelioma
Weight loss, Hepatomegaly ORPHA:50251
Follicular Lymphoma
Splenomegaly, Abnormality of the peritoneum, Weight loss ORPHA:545
Menkes Disease
Chondrocalcinosis, Hernia, Woolly hair, Hypopigmentation of hair, Hypoglycemia, Inguinal hernia, ... ORPHA:565
Immunodeficiency 31C
Hypothyroidism, Weight loss, Short stature, Diabetes mellitus, Delayed puberty, Growth delay, Hep... OMIM:614162
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Metaphyseal dysplasia, Coxa valga, Delayed ossification of carpal bones, Lymphopenia, Dislocated ... OMIM:617425
Thrombocytopenia-Absent Radius Syndrome
Short phalanx of finger, Absent thumb, Coxa valga, Patellar dislocation, Micrognathia, Hip disloc... OMIM:274000
Atelosteogenesis, Type I
Vertebral hypoplasia, Micrognathia, Distal tapering femur, Short femur, Limb undergrowth, Knee di... OMIM:108720
Prader-Willi Syndrome
Failure to thrive in infancy, Hyperinsulinemia, Precocious puberty, Decreased response to growth ... OMIM:176270
14Q22Q23 Microdeletion Syndrome
Diabetes insipidus, Anterior pituitary hypoplasia, Short stature, Cryptorchidism, Abnormality of ... ORPHA:264200
Biliary, Renal, Neurologic, And Skeletal Syndrome
Diabetes insipidus, Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration... OMIM:619534
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia, Monocytosis, Apl... ORPHA:486
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Weight loss, Fine hair, Hypopigmentation of hair, Generalized hirsut... ORPHA:2221
Purine Nucleoside Phosphorylase Deficiency
Abnormal T cell morphology, Lymphopenia, Autoimmune thrombocytopenia, Ataxia, Autoimmune hemolyti... ORPHA:760
Pgm3-Cdg
Leukopenia, Reduced natural killer cell count, T lymphocytopenia, Hemolytic anemia, Abnormal prop... ORPHA:443811
Hereditary Fructose Intolerance
Jaundice, Chronic hepatic failure, Reactive hypoglycemia, Growth delay, Hepatomegaly ORPHA:469
Primary Sclerosing Cholangitis
Cholangiocarcinoma, Elevated hepatic transaminase, Hepatocellular carcinoma, Chronic hepatic fail... ORPHA:171
Ulnar-Mammary Syndrome
Anterior pituitary hypoplasia, Sparse lateral eyebrow, Sparse axillary hair, Elbow flexion contra... OMIM:181450
Woodhouse-Sakati Syndrome
Hypothyroidism, Hyperinsulinemia, Alopecia, Decreased response to growth hormone stimulation test... ORPHA:3464
Isolated Succinate-Coq Reductase Deficiency
Knee flexion contracture, Weight loss, Severe short stature, Proportionate short stature, Intraut... ORPHA:3208
Oculodentodigital Dysplasia
Camptodactyly of finger, Curly hair, Brittle hair, Fine hair, Hypoglycemia, Abnormal dental ename... ORPHA:2710
Acro-Renal-Mandibular Syndrome
Finger syndactyly, Hypoplasia of the radius, Micrognathia, Hip dislocation, Hypoplasia of the uln... ORPHA:958
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hepatic failure, Failure to thrive, Hypoglycemia, Growth delay, Hepatomegaly, Splenomegaly OMIM:252010
Acrofacial Dysostosis, Rodríguez Type
Finger syndactyly, Radioulnar synostosis, Microretrognathia, Abnormal pelvic girdle bone morpholo... ORPHA:1788
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Rhizomelic arm shortening, Leukopenia, Anemia, Reticulocytopenia, B lymphocytopenia, Short metaca... ORPHA:508542
X-Linked Agammaglobulinemia
Alopecia, Weight loss, Cellulitis, Hepatitis, Short stature, Failure to thrive ORPHA:47
Glycogen Storage Disease Ic
Chronic pancreatitis, Hepatocellular carcinoma, Hepatoblastoma, Delayed puberty, Hypoglycemia, He... OMIM:232240
Huntington Disease-Like 2
Weight loss OMIM:606438
Neuroendocrine Tumor Of The Rectum
Weight loss, Increased serum serotonin, Atypical pulmonary carcinoid tumor, Elevated hepatic tran... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Weight loss, Increased serum serotonin, Atypical pulmonary carcinoid tumor, Elevated hepatic tran... ORPHA:100082
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Cachexia, Short stature ORPHA:220295
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Short phalanx of finger, T lymphocytopenia, Inability to walk, Micrognathia, Limb undergrowth, Ap... ORPHA:508533
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Reduced natural killer cell count, Cutaneous abscess, Lymphopenia, Neutropenia, Talipes equinovarus OMIM:619752
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Jaundice, Failure to thrive, Hypoglycemia, Growth delay, Intrauterine growth retardation ORPHA:79282
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal natural killer cell count, Abnormal B cell count, Hepatosplenomegaly, Lymphopenia, Autoi... ORPHA:331206
3-Methylglutaconic Aciduria, Type Viii
Jaundice, Neonatal hypoglycemia, Failure to thrive, Growth delay, Neonatal death OMIM:617248
Chilton-Okur-Chung Neurodevelopmental Syndrome
Sparse eyebrow, Anterior pituitary hypoplasia, Sparse scalp hair, Sparse lateral eyebrow, Short s... OMIM:619841
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Jaundice, Hypoglycemia OMIM:615751
Short Stature, Microcephaly, And Endocrine Dysfunction
Anemia, Cognitive impairment, Dysdiadochokinesis, Clinodactyly, Gait disturbance, Lymphopenia, At... OMIM:616541
Beckwith-Wiedemann Syndrome
Hypothyroidism, Omphalocele, Adrenocortical carcinoma, Obesity, Large for gestational age, Hepato... ORPHA:116
Juvenile Polyposis Of Infancy
Cachexia, Short stature, Subcutaneous lipoma ORPHA:79076
Prolactinoma
Female hypogonadism, Hypogonadism, Anterior hypopituitarism, Decreased circulating ACTH level, Ad... ORPHA:2965
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hepatic fibrosis, Cachexia, Hepatosplenomegaly, Delayed puberty, Growth delay, Cholelithiasis, Ab... ORPHA:2072
Caroli Disease
Hepatic fibrosis, Biliary cirrhosis, Elevated circulating alanine aminotransferase concentration,... ORPHA:53035
Oculopharyngodistal Myopathy
Weight loss ORPHA:98897
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:603041
Holoprosencephaly 9
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Short statu... OMIM:610829
Schimke Immunoosseous Dysplasia
Anemia, Abnormal T cell morphology, Lymphopenia, Pancytopenia, Hypoplasia of the capital femoral ... OMIM:242900
Histiocytoid Cardiomyopathy
Failure to thrive, Polycystic ovaries, Hepatomegaly, Hypoglycemia ORPHA:137675
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Pancytopenia, Lymphopenia OMIM:619767
Intellectual Developmental Disorder, Autosomal Dominant 38
Aggressive behavior, Hair-pulling, Self-injurious behavior, Ataxia, Absent speech, Depressed nasa... OMIM:616393
Budd-Chiari Syndrome
Cirrhosis, Weight loss, Jaundice, Elevated hepatic transaminase, Cholecystitis, Hepatomegaly, Por... ORPHA:131
Orofaciodigital Syndrome X
Hand oligodactyly, Coalescence of tarsal bones, Preaxial hand polydactyly, Fibular aplasia OMIM:165590
Fibrochondrogenesis 1
Dumbbell-shaped long bone, Short foot, Rhizomelia, Short ribs, Short long bone, Small hand, Narro... OMIM:228520
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia ORPHA:3217
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia OMIM:207731
Cystic Echinococcosis
Peritoneal abscess, Abnormality of the pancreas, Abnormality of the testis size, Weight loss, Jau... ORPHA:400
Juvenile Huntington Disease
Weight loss ORPHA:248111
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss, Hyperthyroidism, Goiter OMIM:188580
Carnitine Palmitoyltransferase Ii Deficiency
Hypoketotic hypoglycemia, Hepatic failure, Hepatic calcification, Hepatomegaly ORPHA:157
Neuroendocrine Tumor Of Stomach
Hepatic failure, Weight loss, Increased circulating ACTH level, Atypical pulmonary carcinoid tumo... ORPHA:100075
Cerebral Visual Impairment
Neonatal hypoglycemia ORPHA:447788
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Anterior pituitary hypoplasia, Bilateral cryptorchidism, Supernumerary nipple, Failure to thrive,... ORPHA:466791
T-Cell Immunodeficiency With Thymic Aplasia
T lymphocytopenia, Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplen... OMIM:242700
Nijmegen Breakage Syndrome
Short stature, Cachexia, Abnormal hair quantity, Abnormal hair morphology, Low anterior hairline ORPHA:647
Occipital Horn Syndrome
Genu valgum, Humerus varus, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Apla... ORPHA:198
Secondary Short Bowel Syndrome
Central hypothyroidism, Weight loss, Failure to thrive, Cholestasis, Growth delay, Primary hypoth... ORPHA:95427
Cushing Syndrome Due To Ectopic Acth Secretion
Pituitary corticotropic cell adenoma, Atypical pulmonary carcinoid tumor, Adrenal hyperplasia, Do... ORPHA:99889
Hydrolethalus Syndrome 1
Preaxial hand polydactyly, Upper limb undergrowth, Micrognathia, Proximal tibial hypoplasia, Medi... OMIM:236680
Nodular Non-Suppurative Panniculitis
Weight loss, Panniculitis, Splenomegaly, Hepatomegaly ORPHA:33577
Vici Syndrome
Leukopenia, Cleft upper lip, T lymphocytopenia, Everted upper lip vermilion, Ocular albinism, Mac... OMIM:242840
Usher Syndrome, Type Ig
Hypoplasia of the nasal bone OMIM:606943
Primary Fanconi Renotubular Syndrome
Glycosuria, Hypoglycemia, Growth delay, Weight loss ORPHA:3337
Anaplastic Thyroid Carcinoma
Weight loss, Nodular goiter, Anaplastic thyroid carcinoma, Goiter ORPHA:142
Eosinophilic Fasciitis
Fasciitis, Weight loss, Cellulitis ORPHA:3165
Inflammatory Bowel Disease (Crohn Disease) 1
Growth delay, Weight loss OMIM:266600
Classic Hodgkin Lymphoma
Weight loss, Splenomegaly, Hepatomegaly ORPHA:391
Rhabdoid Tumor
Neoplasm of the liver, Weight loss ORPHA:69077
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Short phalanx of finger, Hypoplastic iliac wing, Metaphyseal irregularity, Short ribs, Foot polyd... OMIM:208500
Aicardi-Goutieres Syndrome 9
Hypothyroidism, Hepatic fibrosis, Weight loss, Elevated hepatic transaminase, Hepatosplenomegaly,... OMIM:619487
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Panniculitis, Weight loss, Hepatosplenomegaly ORPHA:86884
Norrie Disease
Cachexia, Diabetes mellitus, Delayed puberty, Failure to thrive, Cryptorchidism ORPHA:649
Leishmaniasis
Weight loss, Elevated hepatic transaminase, Splenomegaly, Hepatomegaly ORPHA:507
Simpson-Golabi-Behmel Syndrome
Camptodactyly of finger, Polysplenia, Supernumerary nipple, Hepatoblastoma, Inguinal hernia, Hypo... ORPHA:373
Immunodeficiency 27A
Splenomegaly, Weight loss, Hepatosplenomegaly OMIM:209950
Kaposi Sarcoma
Abnormality of the spleen, Abnormality of the liver, Weight loss ORPHA:33276
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hypoketotic hypoglycemia, Hepatic failure, Hepatic steatosis, Hepatic calcification, Hepatomegaly ORPHA:228308
Wars2-Related Combined Oxidative Phosphorylation Defect
Intrauterine growth retardation, Neonatal hypoglycemia ORPHA:572798
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Lymphopen... ORPHA:276
Cholera
Hypoglycemia ORPHA:173
Attrv30M Amyloidosis
Weight loss ORPHA:85447
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Decreased circulating progesterone, Elevated circulating 17-hydroxyprogesterone concentration, Jo... OMIM:201750
Giant Axonal Neuropathy
Pili canaliculi, Abnormality of the pituitary gland, Woolly hair ORPHA:643
Thymic Carcinoma
Neoplasm of the thymus, Weight loss ORPHA:99868
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Weight loss, Paraganglioma ORPHA:94080
Gangliocytoma
Adrenocorticotropic hormone excess, Pituitary null cell adenoma, Abnormal prolactin level, Pituit... ORPHA:251937
Proteus Syndrome
Diabetes insipidus, Macroorchidism, Neoplasm of the thymus, Enlarged polycystic ovaries, Abnormal... ORPHA:744
Chondrodysplasia Punctata, Autosomal Dominant
Knee flexion contracture, Hypoplasia of the nasal bone, Hip contracture OMIM:118650
Phocomelia, Schinzel Type
Foot oligodactyly, Humeroradial synostosis, Hypoplasia of the radius, Micrognathia, Radial bowing... ORPHA:2879
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased proportion of CD3-positive T cells, Lymphopenia, Eosinophilia, Hepatosplenomegaly ORPHA:169160
Ebola Hemorrhagic Fever
Leukopenia, Thrombocytopenia, Lethargy, Lymphopenia ORPHA:319218
Acrodysostosis With Multiple Hormone Resistance
Mandibular prognathia, Delayed speech and language development, Hypoplasia of the nasal bone, Dep... ORPHA:280651
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Small for gestational age, Failure to thrive, Hypoglycemia, Hir... OMIM:220111
Klatskin Tumor
Extrahepatic cholestasis, Weight loss, Jaundice, Cholangiocarcinoma, Hepatomegaly ORPHA:99978
Beckwith-Wiedemann Syndrome
Pancreatic hyperplasia, Adrenocortical carcinoma, Neonatal hypoglycemia, Hepatoblastoma, Hepatome... OMIM:130650
Lynch Syndrome
Pancreatic adenocarcinoma, Flexion contracture, Weight loss, Neoplasm of the pancreas, Hepatocell... ORPHA:144
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Knee flexion contracture, Optic atrophy, Micrognathia, Lymphopenia, Ataxia, Dysmetria, Overlappin... OMIM:619708
Acrorenal-Mandibular Syndrome
Toe syndactyly, Micrognathia, Foot polydactyly, Hypoplasia of the radius, Hand polydactyly, Hip d... OMIM:200980
Gallbladder Neuroendocrine Tumor
Intermittent jaundice, Extrahepatic cholestasis, Weight loss, Neuroendocrine neoplasm, Biliary tr... ORPHA:100086
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Chondrocalcinosis, Thyroid carcinoma, Weight loss, Abnormality of the ... ORPHA:143
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Perianal abscess, Hemolytic anemia, Granuloma, Lymphopenia, Hepatosplenomegaly, Impaired oxidativ... OMIM:618935
Gm1 Gangliosidosis
Camptodactyly of finger, Weight loss, Short stature, Hepatosplenomegaly, Failure to thrive, Ingui... ORPHA:354
Allergic Bronchopulmonary Aspergillosis
Weight loss ORPHA:1164
Holocarboxylase Synthetase Deficiency
Alopecia, Growth delay, Weight loss ORPHA:79242
Icf Syndrome
Micrognathia, Anemia, Lymphopenia, Abnormality of neutrophils ORPHA:2268
Turner Syndrome Due To Structural X Chromosome Anomalies
Biliary cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Increased circulating gonado... ORPHA:99413
Mosaic Monosomy X
Biliary cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Increased circulating gonado... ORPHA:99228
Monosomy X
Biliary cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Increased circulating gonado... ORPHA:99226
Turner Syndrome
Biliary cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Increased circulating gonado... ORPHA:881
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the pancreas, Weight loss, Abnormal testis morphology, Liver abscess, Elevated hep... ORPHA:54251
Campomelic Dysplasia
11 pairs of ribs, Short long bone, Micrognathia, Hypoplastic inferior ilia, Hip dislocation, Femo... ORPHA:140
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Activating thyroid-stimulating hormone receptor defect, Hyperthyroidism, Weight loss, Small for g... ORPHA:424
Deafness-Lymphedema-Leukemia Syndrome
Weight loss, Splenomegaly, Hepatomegaly ORPHA:3226
Familial Colorectal Cancer Type X
Pancreatic adenocarcinoma, Flexion contracture, Weight loss, Neoplasm of the pancreas, Hepatocell... ORPHA:440437
Huntington Disease
Decreased body mass index, Weight loss ORPHA:399
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Pure red cell aplasia, Lymphopenia, Autoimm... OMIM:613179
Glutaryl-Coa Dehydrogenase Deficiency
Fasting hypoglycemia ORPHA:25
Cyclic Neutropenia
Perianal abscess, Decreased eosinophil count, Lymphopenia, Cyclic neutropenia, Thrombocytopenia, ... ORPHA:2686
Focal Myositis
Weight loss ORPHA:48918
8P23.1 Microdeletion Syndrome
Weight loss, Short stature, Congenital diaphragmatic hernia, Growth delay, Cryptorchidism, Obesit... ORPHA:251071
Felty Syndrome
Weight loss, Splenomegaly, Hepatomegaly, Cellulitis ORPHA:47612
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Growth arrest lines, Lymphopenia, Autoimmune thrombocytopenia, Abnormal pelvic... OMIM:102700
Thyrotoxic Periodic Paralysis
Thyrotoxicosis with toxic single thyroid nodule, Hyperthyroidism, Thyrotoxicosis with toxic multi... ORPHA:79102
Ataxia-Telangiectasia
Hypoplasia of the thymus, T lymphocytopenia, Inability to walk, Dysdiadochokinesis, Choreoathetos... OMIM:208900
Huntington Disease-Like 1
Weight loss ORPHA:157941
Acute Liver Failure
Hepatocellular necrosis, Hepatic necrosis, Jaundice, Hepatitis, Elevated hepatic transaminase, Ad... ORPHA:90062
Dyskeratosis Congenita, Autosomal Dominant 1
Leukopenia, Anemia, Lymphopenia, Ataxia, Increased mean corpuscular volume, Thrombocytopenia, Apl... OMIM:127550
Marfan Syndrome
Slender build, Inguinal hernia, Cachexia ORPHA:558
Acquired Central Diabetes Insipidus
Diabetes insipidus, Weight loss ORPHA:95626
Cystinosis, Nephropathic
Weight loss, Short stature, Glycosuria, Male hypogonadism, Diabetes mellitus, Delayed puberty, Hy... OMIM:219800
Perry Syndrome
Weight loss ORPHA:178509
Costello Syndrome
Curly hair, Short stature, Achilles tendon contracture, Failure to thrive, Hypoglycemia, Sparse hair OMIM:218040
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
B lymphocytopenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Aplasia of ... OMIM:602450
Sponastrime Dysplasia
Wide nose, Obtuse angle of mandible, Aplasia of the nasal bone, Mandibular prognathia, Small for ... ORPHA:93357
Peritoneal Cystic Mesothelioma
Peritonitis, Weight loss ORPHA:168816
Alveolar Echinococcosis
Pancreatic cysts, Biliary cirrhosis, Hepatic cysts, Weight loss, Abnormality of adrenal morpholog... ORPHA:284
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, T lympho... OMIM:600802
Pemphigus Vulgaris
Atypical scarring of skin, Weight loss ORPHA:704
Stickler Syndrome
Slender build, Cachexia, Short stature, Abnormal dental enamel morphology ORPHA:828
Malignant Peritoneal Mesothelioma
Peritonitis, Weight loss ORPHA:168811
Spondyloenchondrodysplasia With Immune Dysregulation
Metaphyseal dysplasia, Metaphyseal irregularity, Metaphyseal sclerosis, T lymphocytopenia, Short ... OMIM:607944
Renal Agenesis, Bilateral
Nonketotic hypoglycemia ORPHA:1848
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Anemia, Hypoplasia of the thymus, Perianal abscess, Clinodactyly, Erythroid hypoplasi... OMIM:612541
Osteootohepatoenteric Syndrome
Hepatic fibrosis, Microvesicular hepatic steatosis, Weight loss, Portal fibrosis, Failure to thri... OMIM:619377
Takayasu Arteritis
Weight loss ORPHA:3287
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Splenomegaly, Lymphopenia, Autoimmune thrombocytopenia OMIM:616100
Schneckenbecken Dysplasia
Dumbbell-shaped long bone, Hypoplastic ilia, Short ribs, Diaphyseal thickening, Increased fibular... ORPHA:3144
Polymyositis
Weight loss, Chondrocalcinosis, Hepatomegaly ORPHA:732
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Sparse eyebrow, Broad eyebrow, Large for gestational age, Neonatal hypoglycemia, Slender build ORPHA:457359
Igg4-Related Thyroid Disease
Hypothyroidism, Retroperitoneal fibrosis, Nodular goiter, Sclerosing cholangitis, Thyroiditis, Th... ORPHA:64744
Aggressive Systemic Mastocytosis
Weight loss, Hypersplenism, Hepatosplenomegaly, Decreased liver function, Portal hypertension ORPHA:98850
Nephroblastoma
Neoplasm of the liver, Weight loss ORPHA:654
Choreoacanthocytosis
Chorea, Hair-pulling, Aggressive behavior, Head-banging, Weight loss, Anxiety, Self-injurious beh... ORPHA:2388
Familial Gestational Hyperthyroidism
Activating thyroid-stimulating hormone receptor defect, Hyperthyroidism, Weight loss, Thyrotoxico... ORPHA:99819
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling, Multiple joint contractures, Wide nasal bridge, Delayed speech and language develop... ORPHA:447997
Charge Syndrome
Cleft upper lip, Hand monodactyly, Micrognathia, Absent tibia, Hand polydactyly, Bifid femur, Dow... OMIM:214800
Campomelic Dysplasia
Short phalanx of finger, Hallux valgus, Micrognathia, Hip dislocation, Metatarsus adductus, Dislo... OMIM:114290
Ileal Neuroendocrine Tumor
Hepatic failure, Extrahepatic cholestasis, Weight loss, Increased serum serotonin, Elevated hepat... ORPHA:100078
Jejunal Neuroendocrine Tumor
Hepatic failure, Extrahepatic cholestasis, Weight loss, Increased serum serotonin, Elevated hepat... ORPHA:100077
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Hereditary Amyloidosis With Primary Renal Involvement
Primary testicular failure, Abnormal testis morphology, Hypogonadism, Weight loss, Hepatosplenome... ORPHA:85450
Anemia, Congenital Dyserythropoietic, Type Iv
Hypothyroidism, Weight loss, Short stature, Hepatosplenomegaly, Hepatomegaly, Splenomegaly OMIM:613673
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Humeroradial synostosis, Aplasia/hypoplasia of the femur, Hip dislocation, Phocomelia, Aplasia/Hy... OMIM:276820
Peripheral Primitive Neuroectodermal Tumor
Precocious puberty, Weight loss, Jaundice, Neoplasm of the pancreas, Pancreatitis, Ovarian neoplasm ORPHA:370348
Osteosarcoma
Weight loss ORPHA:668
Khan-Khan-Katsanis Syndrome
Anemia, Micrognathia, Clinodactyly, Lymphopenia, Tented upper lip vermilion, Neutropenia, Pigment... OMIM:618460
Wild Type Attr Amyloidosis
Weight loss, Hepatomegaly ORPHA:330001
Lymphoid Interstitial Pneumonia
Weight loss, Failure to thrive, Abnormality of connective tissue, Hepatomegaly ORPHA:79128
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hypoplasia of the thymus, Lymphopenia, Impaired lymphocyte transformation with phytohemagglutinin... OMIM:243150
Drug Reaction With Eosinophilia And Systemic Symptoms
Weight loss, Hepatitis, Thyroiditis, Elevated hepatic transaminase, Acute hepatic failure ORPHA:139402
Hereditary Pheochromocytoma-Paraganglioma
Weight loss, Elevated calcitonin, Paraganglioma of head and neck, Paraganglioma, Extraadrenal phe... ORPHA:29072
Acute Monoblastic/Monocytic Leukemia
Central hypothyroidism, Weight loss ORPHA:514
Proteasome-Associated Autoinflammatory Syndrome 3
Finger swelling, Anemia, Lymphopenia, Thrombocytopenia, Splenomegaly OMIM:617591
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Hepatosplenomegaly, Impaired lymphocyte transf... ORPHA:35078
Cranioectodermal Dysplasia 1
Short toe, Rhizomelia, Short ribs, Retinal dystrophy, Clinodactyly, Short humerus, Everted lower ... OMIM:218330
Cap Polyposis
Weight loss ORPHA:160148
Chronic Beryllium Disease
Weight loss ORPHA:133
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Leukopenia, Anemia, Optic atrophy, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Ataxia, Thrombo... OMIM:615688
Liposarcoma
Weight loss ORPHA:69078
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Mucolipidosis Type Ii
Knee flexion contracture, Dry hair, Hip contracture, Weight loss, Short stature, Fine hair, Hepat... ORPHA:576
Polyarteritis Nodosa
Weight loss ORPHA:767
Steinert Myotonic Dystrophy
Alopecia, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Abnormality of... ORPHA:273
Sporadic Pheochromocytoma/Secreting Paraganglioma
Weight loss, Paraganglioma of head and neck, Paraganglioma, Extraadrenal pheochromocytoma, Adrena... ORPHA:276621
Monosomy 22Q13.3
Dental malocclusion, Hair-pulling, Wide nasal bridge, Delayed speech and language development, Im... ORPHA:48652
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
11 pairs of ribs, Anemia, Tapered finger, Small hand, Micrognathia, Hip dysplasia, Lymphopenia, S... OMIM:620005
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Hip dysplasia, Clinodactyly of the 5th finger, Ataxia, Everted lower lip... ORPHA:228402
Congenital Tufting Enteropathy
Failure to thrive, Weight loss, Cholestatic liver disease ORPHA:92050
Duplication Of The Pituitary Gland
Abnormality of the pituitary gland, Decreased body weight, Short stature, Abnormal hypothalamus m... ORPHA:314621
Immunodeficiency 55
Neutropenia, Absent natural killer cells, Lymphopenia OMIM:617827
Giant Cell Arteritis
Diabetes insipidus, Hepatic failure, Weight loss, Alopecia ORPHA:397
Holoprosencephaly 1
Diabetes insipidus, Hypoglycemia, Short stature, Adrenal hypoplasia OMIM:236100
Classic Pantothenate Kinase-Associated Neurodegeneration
Weight loss ORPHA:216866
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss ORPHA:411703
Liver Disease, Severe Congenital
Peritonitis, Elevated hepatic transaminase, Portal inflammation, Hyperinsulinemic hypoglycemia, H... OMIM:619991
Autoimmune Lymphoproliferative Syndrome
Increased B cell count, Abnormal proportion of CD8-positive T cells, Coombs-positive hemolytic an... ORPHA:3261
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Flexion contracture, Weight loss, Enthesitis, Mild postnatal growth retardation, Hepatosplenomegaly ORPHA:85408
Marburg Hemorrhagic Fever
Jaundice, Elevated hepatic transaminase, Hypoglycemia, Orchitis, Pancreatitis ORPHA:99826
Fusariosis
Brain abscess, Abnormal retinal morphology, Granuloma, Lung abscess, Lymphopenia, Abnormality of ... ORPHA:228119
Acrodermatitis Enteropathica
Alopecia, Abnormal eyebrow morphology, Short stature, Weight loss, Failure to thrive ORPHA:37
Orofaciodigital Syndrome Type 4
Camptodactyly of finger, Genu varum, Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, ... ORPHA:2753
Polycythemia Vera
Weight loss, Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly ORPHA:729
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Growth delay, Weight loss ORPHA:90362
Hutchinson-Gilford Progeria Syndrome
Female hypogonadism, Dystrophic toenail, Absence of subcutaneous fat, Pubertal developmental fail... ORPHA:740
Kinsship Syndrome
Polydactyly, Coxa valga, Thick lower lip vermilion, Micrognathia, Hip dislocation, Dislocated rad... OMIM:619297
Refractory Celiac Disease
Elevated hepatic transaminase, Abnormal spleen physiology, Weight loss ORPHA:398063
Cryptogenic Organizing Pneumonia
Weight loss ORPHA:1302
Glycogen Storage Disease Of Heart, Lethal Congenital
Neonatal hypoglycemia OMIM:261740
Yao Syndrome
Weight loss OMIM:617321
Otopalatodigital Syndrome, Type Ii
Toe syndactyly, Micrognathia, Broad hallux, Short hallux, Postaxial hand polydactyly, Rocker bott... OMIM:304120
Osteopathia Striata With Cranial Sclerosis
Paranasal sinus hypoplasia, Cleft upper lip, Flexion contracture of toe, Thick lower lip vermilio... OMIM:300373
Systemic Capillary Leak Syndrome
Pancreatitis, Weight loss ORPHA:188
Q Fever
Abnormality of the liver, Weight loss, Hepatitis, Elevated hepatic transaminase, Hepatosplenomega... ORPHA:781
Loeffler Endocarditis
Weight loss ORPHA:75566
Idiopathic Chronic Eosinophilic Pneumonia
Weight loss ORPHA:2902
Eosinophilic Gastroenteritis
Weight loss ORPHA:2070
Al Amyloidosis
Weight loss, Abnormal salivary gland morphology, Abnormality of the liver, Hepatomegaly ORPHA:85443
Tropical Endomyocardial Fibrosis
Cachexia, Splenomegaly, Hepatomegaly ORPHA:75565
Trichotillomania
Hair-pulling OMIM:613229
Diffuse Alveolar Hemorrhage
Weight loss ORPHA:90060
Igg4-Related Aortitis
Weight loss ORPHA:449400
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
Oromandibular Dystonia
Weight loss ORPHA:93958
Thymoma
Neoplasm of the thyroid gland, Weight loss ORPHA:99867
Alström Syndrome
Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic steatosis, Dorsocervical fat pad, Fron... ORPHA:64
Carney-Stratakis Syndrome
Weight loss, Paraganglioma ORPHA:97286
Rheumatoid Arthritis
Weight loss OMIM:180300
Perry Syndrome
Weight loss OMIM:168605
Ménétrier Disease
Weight loss ORPHA:2494
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Weight loss OMIM:256700
Cushing Disease
Pedal edema, Optic nerve compression, Suicidal ideation, Decreased eosinophil count, Lymphopenia,... ORPHA:96253
Fatal Familial Insomnia
Weight loss OMIM:600072
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Weight loss ORPHA:324964
Amoebiasis Due To Entamoeba Histolytica
Liver abscess, Elevated hepatic transaminase, Weight loss ORPHA:67
Aicardi-Goutieres Syndrome 7
Hypothyroidism, Weight loss, Hepatitis, Hepatic steatosis, Hepatomegaly, Intrauterine growth reta... OMIM:615846
Fanconi Anemia
Abnormality of the liver, Hypogonadism, Abnormal testis morphology, Weight loss, Short stature, G... ORPHA:84
Systemic Mastocytosis With Associated Hematologic Neoplasm
Weight loss, Splenomegaly, Hepatomegaly ORPHA:98849
Pneumocystosis
Weight loss ORPHA:723
Pmm2-Cdg
Hepatic fibrosis, Hyperinsulinemia, Elevated circulating thyroid-stimulating hormone concentratio... ORPHA:79318
Wiskott-Aldrich Syndrome
Absent microvilli on the surface of peripheral blood lymphocytes, Decreased proportion of CD8-pos... OMIM:301000
Primary Sjögren Syndrome
Leukopenia, Cognitive impairment, Anxiety, Normocytic anemia, Lymphopenia, Dementia, Optic neurit... ORPHA:289390
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Lymph... ORPHA:391487
Imerslund-Gräsbeck Syndrome
Failure to thrive, Weight loss ORPHA:35858
Erdheim-Chester Disease
Hypogonadotropic hypogonadism, Diabetes insipidus, Retroperitoneal fibrosis, Weight loss ORPHA:35687
Eosinophilic Granulomatosis With Polyangiitis
Weight loss ORPHA:183
Acute Promyelocytic Leukemia
Weight loss ORPHA:520
Whim Syndrome
Neutropenia, Limb ataxia, Lymphopenia, Abnormality of neutrophil morphology ORPHA:51636
Simple Cryoglobulinemia
Viral hepatitis, Weight loss ORPHA:91139
Pancreatoblastoma
Jaundice, Pancreatic calcification, Weight loss ORPHA:677
Malignant Atrophic Papulosis
Peritonitis, Weight loss ORPHA:679
African Trypanosomiasis
Alopecia, Weight loss, Abnormality of circulating cortisol level, Jaundice, Hepatosplenomegaly, A... ORPHA:3385
Glossopharyngeal Neuralgia
Weight loss ORPHA:221098
Nocardiosis
Weight loss, Cellulitis, Liver abscess, Thyroiditis, Abnormality of the adrenal glands, Peritonitis ORPHA:31204
Intellectual Developmental Disorder, Autosomal Dominant 1
Short stature, Long eyelashes, Low posterior hairline, Thick eyebrow, Highly arched eyebrow, Post... OMIM:156200
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Long eyelashes, Weight loss, Abnormal dental enamel morphology ORPHA:79430
Gerstmann-Straussler Disease
Weight loss OMIM:137440
Igg4-Related Retroperitoneal Fibrosis
Hashimoto thyroiditis, Hydrocele testis, Weight loss ORPHA:49041
Brucellosis
Abnormality of the liver, Weight loss, Liver abscess, Hypersplenism, Small for gestational age, F... ORPHA:1304
Pancreatic Triacylglycerol Lipase Deficiency
Exocrine pancreatic insufficiency, Growth delay, Weight loss ORPHA:309031
Stevens-Johnson Syndrome
Acute hepatic failure, Elevated hepatic transaminase, Pancreatitis, Weight loss ORPHA:36426
Congenital Fiber-Type Disproportion Myopathy
Knee flexion contracture, Flexion contracture, Hip contracture, Weight loss, Elbow flexion contra... ORPHA:2020
Sarcoidosis
Hypothyroidism, Hepatic failure, Diabetes insipidus, Hyperthyroidism, Alopecia, Weight loss, Enla... ORPHA:797
Toxic Epidermal Necrolysis
Acute hepatic failure, Elevated hepatic transaminase, Pancreatitis, Weight loss ORPHA:537
Igg4-Related Dacryoadenitis And Sialadenitis
Retroperitoneal fibrosis, Weight loss, Nodular goiter, Thyroiditis, Abnormality of the submandibu... ORPHA:79078
Sotos Syndrome
Hypothyroidism, Bilateral camptodactyly, Flexion contracture, Hip contracture, Sparse anterior sc... ORPHA:821
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Failure to thrive, Weight loss ORPHA:1018
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Weight loss OMIM:607459
Juvenile Dermatomyositis
Alopecia, Weight loss ORPHA:93672
Familial Thrombocytosis
Splenomegaly, Weight loss ORPHA:71493
Castleman Disease
Jaundice, Weight loss ORPHA:160
Igg4-Related Kidney Disease
Abnormality of the anterior pituitary, Retroperitoneal fibrosis, Weight loss, Sclerosing cholangi... ORPHA:449395
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss ORPHA:747
Reactive Arthritis
Enthesitis, Dystrophic fingernails, Weight loss ORPHA:29207
Riddle Syndrome
Short stature, Weight loss ORPHA:420741
Malt Lymphoma
Weight loss, Abnormality of the thyroid gland ORPHA:52417
Granulomatosis With Polyangiitis
Diabetes insipidus, Abnormality of the hypothalamus-pituitary axis, Pancreatitis, Weight loss ORPHA:900
Hereditary Late-Onset Parkinson Disease
Weight loss ORPHA:411602
Rat-Bite Fever
Parotitis, Pancreatitis, Weight loss ORPHA:31205
Granulomatosis With Polyangiitis
Weight loss OMIM:608710
Kikuchi-Fujimoto Disease
Alopecia, Weight loss, Elevated hepatic transaminase, Hepatomegaly, Enlargement of parotid gland,... ORPHA:50918
Pyomyositis
Testicular teratoma, Weight loss ORPHA:764
Pulmonary Alveolar Microlithiasis
Weight loss, Testicular microlithiasis, Hepatomegaly ORPHA:60025
Dermatomyositis
Chondrocalcinosis, Abnormal hair quantity, Weight loss, Cellulitis ORPHA:221
Renal Nutcracker Syndrome
Weight loss ORPHA:71273
Multiple Myeloma
Splenomegaly, Weight loss ORPHA:29073
Sarcoidosis, Susceptibility To, 1
Weight loss, Abnormal salivary gland morphology, Hepatomegaly, Enlarged lacrimal glands, Splenome... OMIM:181000
Postinfectious Vasculitis
Viral hepatitis, Weight loss, Orchitis ORPHA:48435
Behçet Disease
Pancreatitis, Splenomegaly, Weight loss, Orchitis ORPHA:117
Oculopharyngodistal Myopathy 1
Weight loss OMIM:164310
Chronic Graft Versus Host Disease
Alopecia, Flexion contracture, Weight loss, Fasciitis, Elevated hepatic transaminase, Nail dystrophy ORPHA:99921
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Weight loss OMIM:301074
Immunodeficiency 82 With Systemic Inflammation
Hepatitis, Splenomegaly, Weight loss OMIM:619381
Tubulointerstitial Nephritis And Uveitis Syndrome
Chorioretinal scar, Weight loss ORPHA:91500
Goodpasture Syndrome
Weight loss OMIM:233450

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Mbd5

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Mbd5.

No publications found that use IMPC mice or data for Mbd5.

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MGI Allele Allele Type Produced
Mbd5tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Mbd5tm3a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Mbd5tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Mbd5tm3e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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