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Gene: Eftud2 MGI:1336880

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Gene Summary

Name:
elongation factor Tu GTP binding domain containing 2
Synonyms:
Snrp116,  116kDa,  U5-116kD

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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
increased circulating serum albumin level Eftud2tm1b(KOMP)Wtsi HET Early adult 5.47×10-13
increased circulating HDL cholesterol level Eftud2tm1b(KOMP)Wtsi HET   Late adult 2.40×10-05
increased circulating total protein level Eftud2tm1b(KOMP)Wtsi HET Early adult 7.08×10-08
increased circulating cholesterol level Eftud2tm1b(KOMP)Wtsi HET   Late adult 7.42×10-05
abnormal heart left ventricle morphology Eftud2tm1b(KOMP)Wtsi HET   Late adult 1.73×10-05
thick ventricular wall Eftud2tm1b(KOMP)Wtsi HET   Late adult 8.03×10-05
increased startle reflex Eftud2tm1b(KOMP)Wtsi HET Early adult 9.12×10-05
decreased leukocyte cell number Eftud2tm1b(KOMP)Wtsi HET Early adult 1.98×10-05
increased circulating cholesterol level Eftud2tm1b(KOMP)Wtsi HET Early adult 5.36×10-10
thrombocytosis Eftud2tm1b(KOMP)Wtsi HET Early adult 2.99×10-05
decreased lymphocyte cell number Eftud2tm1b(KOMP)Wtsi HET Early adult 1.94×10-05
increased circulating calcium level Eftud2tm1b(KOMP)Wtsi HET   Late adult 6.09×10-05
increased cardiac muscle contractility Eftud2tm1b(KOMP)Wtsi HET   Late adult 5.81×10-05
decreased grip strength Eftud2tm1b(KOMP)Wtsi HET Early adult 6.37×10-05
increased circulating calcium level Eftud2tm1b(KOMP)Wtsi HET Early adult 2.87×10-12
increased circulating HDL cholesterol level Eftud2tm1b(KOMP)Wtsi HET Early adult 1.50×10-10
decreased startle reflex Eftud2tm1b(KOMP)Wtsi HET Late adult 1.74×10-07
preweaning lethality, complete penetrance Eftud2tm1b(KOMP)Wtsi HOM   Early adult 0.00
increased heart left ventricle size Eftud2tm1b(KOMP)Wtsi HET Early adult 1.47×10-11
decreased heart left ventricle size Eftud2tm1b(KOMP)Wtsi HET Late adult 4.82×10-06
decreased exploration in new environment Eftud2tm1b(KOMP)Wtsi HET Early adult 4.31×10-05

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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.

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XRay Images Whole Body Dorso Ventral

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XRay Images Whole Body Lateral Orientation

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XRay Images Whole Body Dorso Ventral

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Human diseases caused by Eftud2 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 Eftud2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Mandibulofacial Dysostosis, Guion-Almeida Type
Ventricular septal defect, Atrial septal defect OMIM:610536
Mandibulofacial Dysostosis-Microcephaly Syndrome
Atrial septal defect ORPHA:79113

The table below shows human diseases predicted to be associated to Eftud2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Finger Locking, Recurrent, With Intrauterine Growth Retardation And Proportionate Short Stature
Intrauterine growth retardation, Short stature OMIM:135950
Immunodeficiency 69
Anemia, Pancytopenia, Hepatosplenomegaly, Increased circulating ferritin concentration, Thrombocy... OMIM:618963
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Abnormal heart morphology, Hypocalcemia, T lymphocytopenia DECIPHER:16
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Hemophagocytic Syndrome Associated With An Infection
Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Neutropenia, Pan... ORPHA:158048
Coronary Artery Disease, Autosomal Dominant, 1
Myocardial infarction, Hypertension, Hypercholesterolemia OMIM:608320
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Cholesterol-Ester Transfer Protein Deficiency
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem... ORPHA:79506
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Sterile abscess, Pancytopenia, Hepatosplenomegaly, Thrombocytosis, Elevated circulating C-reactiv... OMIM:604416
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Immunodeficiency 27A
Anemia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Histiocytosis, Splenomegaly, Hypoalbumi... OMIM:209950
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... OMIM:202700
Gaisböck Syndrome
Increased mean corpuscular hemoglobin concentration, Hyperuricemia, Increased red blood cell coun... ORPHA:90041
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Morbid Obesity And Spermatogenic Failure
Hypertension, Congestive heart failure, Myocardial infarction, Increased LDL cholesterol concentr... OMIM:615703
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Hyperhomocystinemia, Lymphopenia, Pancytopenia, Thrombocytosis, Macrocytic ... OMIM:617780
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Irritabi... OMIM:267700
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:232700
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Pyknoachondrogenesis
Stillbirth OMIM:265880
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia, Lymphopenia OMIM:207731
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Sickle Cell Anemia
Hemolytic anemia, Unconjugated hyperbilirubinemia, Increased mean corpuscular volume, Reticulocyt... ORPHA:232
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Increased serum bile acid concentration, Hypercholesterolemia, Splenom... OMIM:619868
Adamantinoma
Hypercalcemia ORPHA:55881
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Increased VLDL cholesterol concentration, Elevated circulating apolipoprote... OMIM:144250
Acquired Idiopathic Sideroblastic Anemia
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Eryt... ORPHA:75564
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Hyperbilirubinemia, Anisop... OMIM:616689
Diffuse Neonatal Hemangiomatosis
Anemia, Thrombocytopenia, Hypercalcemia ORPHA:2123
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Immunodeficiency 43
Reduced natural killer cell count, B lymphocytopenia, Lung abscess, Hypoproteinemia, Decreased ci... OMIM:241600
Rhabdoid Tumor
Thrombocytopenia, Irritability, Hypercalcemia, Anemia ORPHA:69077
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... OMIM:616829
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Leukopenia, Acute myeloid leukemia, Abnormality of neutrophil morphology, Erythroid hypoplasia, A... ORPHA:86841
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Focal Segmental Glomerulosclerosis 1
Anemia, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Lymphopenia OMIM:152800
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia, Lymphopenia ORPHA:1116
Refractory Celiac Disease
Normocytic anemia, Hypophosphatemia, Abnormal spleen physiology, Increased proportion of HLA DR+ ... ORPHA:398063
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr... OMIM:187950
Immunodeficiency 18
Lymphopenia, Decreased proportion of CD3-positive T cells OMIM:615615
Thrombocythemia 3
Thrombocytosis OMIM:614521
Thrombocythemia 2
Thrombocytosis OMIM:601977
Multiple Myeloma
Anemia, Hypercalcemia, Elevated circulating creatinine concentration, Hyperproteinemia, Splenomegaly ORPHA:29073
Polycythemia Vera
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... OMIM:263300
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased total bilirubin, Leukopenia, Anemia, Irritability, Pancytopenia, Hepatosplenomegaly, In... OMIM:603553
Hypophosphatasia
Anemia, Irritability, Hypercalcemia ORPHA:436
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Anemia, Hypercalcemia ORPHA:2668
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Ataxia-Oculomotor Apraxia 4
Cognitive impairment, Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia,... OMIM:616267
Immunodeficiency 14B, Autosomal Recessive
B lymphocytopenia, Neutrophilia, Thrombocytosis, Leukocytosis, Monocytosis OMIM:619281
Analbuminemia
Increased LDL cholesterol concentration, Hypoalbuminemia, Elevated circulating transferrin concen... OMIM:616000
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Cognitive impairment, Dementia, Elevated circulating creatine kinase concentration, Tremor, Hyper... OMIM:208920
Primary Intestinal Lymphangiectasia
Anemia, Reduced proportion of CD4+ effector memory T cells, Pericardial effusion, Lymphopenia, Hy... ORPHA:90362
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Angina pectoris, Increased HDL cholesterol concentration OMIM:614025
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Heme Oxygenase 1 Deficiency
Asplenia, Hemolytic anemia, Coombs-positive hemolytic anemia, Increased circulating ferritin conc... OMIM:614034
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia, Splenomegaly OMIM:612526
Progressive Familial Intrahepatic Cholestasis
Abnormality of thrombocytes, Hypocalcemia, Cognitive impairment, Splenomegaly ORPHA:172
Congenital Disorder Of Glycosylation, Type Iio
Decreased circulating ceruloplasmin concentration, Hepatosplenomegaly, Elevated circulating creat... OMIM:616828
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... ORPHA:521
Citrullinemia Type Ii
Aggressive behavior, Irritability, Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholester... ORPHA:247585
Autoinflammation With Infantile Enterocolitis
Anemia, Reduced natural killer cell count, Pancytopenia, Increased circulating ferritin concentra... OMIM:616050
Asplenia, Isolated Congenital
Asplenia, Howell-Jolly bodies, Thrombocytosis OMIM:271400
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Anemia, Hypoproteinemia, Thrombocytosis, Iron deficiency anemia, Hypoalbuminemia OMIM:226300
Non-Functioning Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... ORPHA:94080
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Steatorrhea, Hypotriglyceridemia, Hypocholesterolemia, H... OMIM:246700
Sitosterolemia 1
Reduced haptoglobin level, Stomatocytosis, Anemia, Giant platelets, Reticulocytosis, Impaired pla... OMIM:210250
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy, Hypermethioninemia, Increased circulating creatine kinase MM isoform, Hypoalbumin... OMIM:613752
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hyperuricemia, Splenomegaly, Hypercholesterolemia OMIM:306000
Omenn Syndrome
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Hypoproteinemia, E... OMIM:603554
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Postural tremor, Choreoathetosis, Elevated circulating alpha-fetoprotein concentration, Elevated ... ORPHA:64753
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Hypoalbuminemia ORPHA:88643
Immunodeficiency 24
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Decreased pr... OMIM:615897
Immunodeficiency 32B
Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Impaired oxidative burst, Thrombocytopenia, Sp... OMIM:226990
Dengue Fever
Leukopenia, Thrombocytopenia, Hypoproteinemia ORPHA:99828
Leishmaniasis
Leukopenia, Anemia, Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia, Splenomegaly,... ORPHA:507
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Splenomegaly, Hypercholesterolemia ORPHA:75234
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Pancytopenia, Thrombocytopenia, Hemophagocytosis, Elevated circulating C-reactive ... OMIM:308240
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal mean corpuscular vol... ORPHA:86839
Pheochromocytoma--Islet Cell Tumor Syndrome
Positive regitine blocking test, Cerebral hemorrhage, Congestive heart failure, Hypercalcemia, Ep... OMIM:171420
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hyperuricemia, Anxiety, Oculogyric crisis, Hyperkalemia, Elevated circulating ... ORPHA:94093
Timothy Syndrome
Patent foramen ovale, Ventricular septal defect, Prolonged QT interval, Cardiomegaly, Hypocalcemi... OMIM:601005
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Sting-Associated Vasculopathy, Infantile-Onset
Leukopenia, Anemia, Lymphopenia, Elevated circulating C-reactive protein concentration, Thrombocy... OMIM:615934
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL choles... OMIM:620058
Congenital Analbuminemia
Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia ORPHA:86816
Morgagni-Stewart-Morel Syndrome
Hyperuricemia, Cognitive impairment, Suicidal ideation, Action tremor, Hypercholesterolemia, Memo... ORPHA:77296
Congenital Enterovirus Infection
Leukopenia, Anemia, Cardiomyopathy, Myocarditis, Abnormal macrophage morphology, Pericardial effu... ORPHA:292
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Abdominal Obesity-Metabolic Syndrome 3
Coronary artery stenosis, Hypertension, Myocardial infarction, Increased LDL cholesterol concentr... OMIM:615812
Primary Myelofibrosis
Anemia, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, Thrombocytosis, Leukocytosis, Extramedu... ORPHA:824
Macrophage Activation Syndrome
Abnormal natural killer cell count, Anemia, Neutropenia, Increased circulating ferritin concentra... ORPHA:158061
Chédiak-Higashi Syndrome
Pericardial effusion, Hepatosplenomegaly, Hyponatremia, Thrombocytopenia, Abnormal leukocyte morp... ORPHA:167
Hemochromatosis, Type 3
Anemia, Elevated transferrin saturation, Lymphopenia, Increased circulating ferritin concentratio... OMIM:604250
9Q31.1Q31.3 Microdeletion Syndrome
Bicuspid aortic valve, Dilated cardiomyopathy, Aortic regurgitation, Renovascular hypertension, H... ORPHA:401923
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Cog4-Cdg
Hepatosplenomegaly, Thrombocytopenia, Irritability, Hypercholesterolemia ORPHA:263501
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Anemia, Irritability, Hypercalcemia OMIM:241500
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Pseudohypoparathyroidism Type 2
Hyperphosphatemia, Hypocalcemic tetany, Calcinosis, Prolonged QT interval, Laryngeal dystonia, Hy... ORPHA:94090
Ménétrier Disease
Hypochromic microcytic anemia, Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Alpha-Heavy Chain Disease
Hypocalcemia, Splenomegaly, Anemia ORPHA:100025
Apolipoprotein C-Ii Deficiency
Decreased circulating apolipoprotein C-II concentration, Hypercholesterolemia, Increased circulat... OMIM:207750
Congenital Disorder Of Glycosylation, Type Ia
Cardiomyopathy, Pericardial effusion, Steatorrhea, Pericarditis, Tremor, Thrombocytosis, Hypochol... OMIM:212065
Acquired Aneurysmal Subarachnoid Hemorrhage
Cognitive impairment, Left ventricular hypertrophy, Progressive neurologic deterioration, Leukocy... ORPHA:90065
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Hypercalcemia, Infantile, 1
Hypercalcemia OMIM:143880
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Hypoalbuminemia, Ventricular septal defect, Hypercholesterolemia OMIM:616730
Hepatocellular Carcinoma
Anemia, Liver abscess, Hypokalemia, Hyperbilirubinemia, Polycythemia, Emotional lability, Hyperca... ORPHA:88673
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Immunodeficiency 110 With Lymphoproliferation
Neutropenia, Atrial septal defect, Lymphopenia OMIM:614868
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Lysosomal Acid Lipase Deficiency
Leukopenia, Anemia, Hypersplenism, Steatorrhea, Hepatosplenomegaly, Increased LDL cholesterol con... OMIM:278000
Congenital Disorder Of Glycosylation, Type Ij
Aggressive behavior, Tremor, Hypoproteinemia OMIM:608093
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Patent foramen ovale, Increased circulating free fatty acid level, Ventricular septal defect, Per... ORPHA:26793
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia ORPHA:181393
Beta-Ketothiolase Deficiency
Hyperuricemia, Apathy, Hyperammonemia, Thrombocytosis, Leukocytosis ORPHA:134
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Microcytic anemia, Hypoalbuminemia OMIM:618805
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Irritability, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Immunodeficiency 92
B lymphocytopenia, Lymphocytosis, Decreased proportion of class-switched memory B cells, Thromboc... OMIM:619652
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Elevated creatine kinase after exercise ORPHA:284426
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Increased blood urea nitrogen, Hypercalcemia, Progressive psychomotor ... ORPHA:251004
Eosinophilic Gastroenteritis
Anemia, Steatorrhea, Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinop... ORPHA:2070
3-Hydroxy-3-Methylglutaric Aciduria
Leukopenia, Anemia, Hyperuricemia, Apathy, Dilated cardiomyopathy, Hyperammonemia, Thrombocytosis... ORPHA:20
Galactokinase Deficiency
Hypergalactosemia, Increased level of galactitol in plasma, Psychomotor deterioration, Hepatosple... ORPHA:79237
Oculoskeletodental Syndrome
Hypocalcemia, Hypercalcemia ORPHA:557003
Celiac Disease, Susceptibility To, 1
Steatorrhea, Thrombocytosis, Macrocytic anemia, Anxiety, Iron deficiency anemia, Hypocalcemia OMIM:212750
Hepatoportal Sclerosis
Leukopenia, Anemia, Cognitive impairment, Hypersplenism, Hyperbilirubinemia, Thrombocytopenia, Sp... ORPHA:64743
Trichohepatoenteric Syndrome 1
Hypermethioninemia, Increased serum iron, Abnormality of iron homeostasis, Cognitive impairment, ... OMIM:222470
Leptospirosis
Pericarditis, Hyperproteinemia, Thrombocytopenia ORPHA:509
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Reduced natural killer cell count, Perianal abscess, Lymphocytosis, Elevated circulating C-reacti... OMIM:301074
Hypercholesterolemia, Familial, 3
Hypercholesterolemia, Abnormal LDL cholesterol concentration, Xanthelasma OMIM:603776
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hypoplasia of the thymus, Ventricular septal defect, Lymphopenia, Impaired lymphocyte transformat... OMIM:243150
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia ORPHA:99879
Hyperparathyroidism, Neonatal Severe
Anemia, Calcinosis, Hypophosphatemia, Hypercalcemia, Splenomegaly OMIM:239200
Monosomy 13Q34
Epistaxis, Hypercalcemia, Common atrium, Hematochezia, Pulmonic stenosis ORPHA:96168
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatosplenomegaly, Hypertriglyceridemia, Microcytic anemia, Hypoalbuminemia OMIM:619013
Nephrotic Syndrome, Type 14
Mental deterioration, Hypertriglyceridemia, Lymphopenia, Hypoalbuminemia OMIM:617575
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... ORPHA:276621
Hypercholesterolemia, Familial, 2
Hypercholesterolemia, Increased LDL cholesterol concentration, Xanthelasma OMIM:144010
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Elevated circulating... ORPHA:247598
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Syndromic Diarrhea
Hypoplasia of the thymus, Abnormality of iron homeostasis, Ventricular septal defect, Bicuspid ao... ORPHA:84064
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Anemia, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Hypoproteinem... OMIM:615895
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Leukopenia, Anemia, Dilated cardiomyopathy, Pancytopenia, Hepatosplenomegaly, Lymphopenia, Elevat... OMIM:615688
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Laryngeal dystonia, Anxiety, Hypoc... ORPHA:36913
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Restrictive cardiomyopathy, Hypoplasia of the thymus, T lympho... OMIM:619313
Mastocytosis
Mastocytosis, Hypercalcemia, Acute leukemia, Splenomegaly, Chronic leukemia ORPHA:98292
Late-Onset Isolated Acth Deficiency
Hyperuricemia, Normocytic anemia, Decreased circulating cortisol level, Hyperkalemia, Hypercalcem... ORPHA:199299
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Ataxia With Vitamin E Deficiency
Hypercholesterolemia, Short term memory impairment, Increased LDL cholesterol concentration, Xant... OMIM:277460
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures ORPHA:2239
Smith-Magenis Syndrome
Head-banging, Abnormal heart morphology, Hypercholesterolemia, Hypertriglyceridemia, Self-mutilation OMIM:182290
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Action tremor, Mental deterioration, Thrombocytopenia, Intention tremor, Normoch... OMIM:254900
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Aggressive behavior, Tremor, Complete atrioventricular canal defect, Hypercalcemia, Self-mutilation ORPHA:476126
Uremic Pruritus
Increased blood urea nitrogen, Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia ORPHA:94059
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Johanson-Blizzard Syndrome
Anemia, Hypoproteinemia, Dextrocardia, Abnormal cardiac septum morphology ORPHA:2315
Congenital Disorder Of Glycosylation, Type Ih
Anemia, Perimembranous ventricular septal defect, Elevated circulating creatinine concentration, ... OMIM:608104
Intermediate Osteopetrosis
Hypocalcemia, Thrombocytopenia, Anemia, Hepatosplenomegaly ORPHA:210110
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Immunodeficiency 50
Neutropenia, Lymphopenia OMIM:300988
Oculoskeletodental Syndrome
Splenomegaly, Hypocalcemia, Hypercalcemia OMIM:618440
Pheochromocytoma
Positive regitine blocking test, Cerebral hemorrhage, Congestive heart failure, Hypercalcemia, Ep... OMIM:171300
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, Hy... ORPHA:103910
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Wolcott-Rallison Syndrome
Double outlet right ventricle, Lymphocytosis, Hyperbilirubinemia, Atrial septal defect, Hyperammo... ORPHA:1667
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Immunodeficiency 97 With Autoinflammation
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... OMIM:619802
Alg1-Cdg
Cardiomyopathy, Abnormal heart morphology, Hypoalbuminemia ORPHA:79327
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia, Splenomegaly, Ventricular septal defect OMIM:235255
Autoerythrocyte Sensitization Syndrome
Self-injurious behavior, Emotional lability, Autoimmune thrombocytopenia, Abnormal erythrocyte mo... ORPHA:324636
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia OMIM:612089
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterol... ORPHA:567548
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Colchicine Poisoning
Hypotension, Hypovolemia, Cardiogenic shock, Hypophosphatemia, Hypokalemia, Congestive heart fail... ORPHA:31824
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Ventricular septal defect, Hypercholesterolemia OMIM:618348
Immunodeficiency 8 With Lymphoproliferation
Lymphopenia OMIM:615401
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenome... ORPHA:444463
Hyperlipoproteinemia, Type I
Lactescent serum, Hepatosplenomegaly, Hyperlipidemia, Hypercholesterolemia, Increased circulating... OMIM:238600
Thymic Neuroendocrine Tumor
Hypercalcemia, Increased circulating cortisol level ORPHA:97289
Hypocalciuric Hypercalcemia, Familial, Type I
Hypercalcemia, Hypermagnesemia OMIM:145980
Citrullinemia, Type Ii, Neonatal-Onset
Hyperlysinemia, Hyperthreoninemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Decr... OMIM:605814
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypokalemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Amoebiasis Due To Entamoeba Histolytica
Abnormal pericardium morphology, Anemia, Liver abscess, Lung abscess, Constrictive pericarditis, ... ORPHA:67
Double Outlet Right Ventricle
Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Heart murmur, Hypop... ORPHA:3426
Congenital Generalized Lipodystrophy
Increased C-peptide level, Congestive heart failure, Hypertrophic cardiomyopathy, Hypercholestero... ORPHA:528
Familial Hemophagocytic Lymphohistiocytosis
Anemia, Neutropenia, Increased circulating ferritin concentration, Hemophagocytosis, Thrombocytop... ORPHA:540
Hereditary Pheochromocytoma-Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... ORPHA:29072
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Ventricular septal defect, Hepatosplenomegaly, Hypoproteinemia, Hypocalcemia, Splenomegaly ORPHA:1655
Avian Influenza
Leukopenia, Lymphopenia, Elevated circulating creatine kinase concentration, Elevated circulating... ORPHA:454836
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypercalcemia, Hypermagnesemia OMIM:145981
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus, Lymphopenia OMIM:267500
Acute Adrenal Insufficiency
Hyperuricemia, Normocytic anemia, Decreased circulating cortisol level, Hyperkalemia, Increased c... ORPHA:95409
Alg6-Cdg
Decreased LDL cholesterol concentration, Hypoalbuminemia ORPHA:79320
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Hypophosphatemia, Hypocalcemia, Tooth abscess ORPHA:89937
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Brucellosis
Endocarditis, Leukopenia, Anemia, Liver abscess, Hypersplenism, Granuloma, Abnormal aortic valve ... ORPHA:1304
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Pericardial effusion, Pancytopenia, Autoimmune thrombocytopenia, Autoimmune h... OMIM:613011
Immunodeficiency 105
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... OMIM:619924
Blackfan-Diamond Anemia
Acute myeloid leukemia, Leukopenia, Ventricular septal defect, Reticulocytopenia, Pure red cell a... ORPHA:124
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, Decreased proporti... OMIM:617514
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Albers-Schönberg Osteopetrosis
Hypocalcemia, Abnormal leukocyte morphology, Anemia ORPHA:53
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Interstitial Lung And Liver Disease
Hyperammonemia, Intraalveolar phospholipid accumulation, Thrombocytosis, Anemia OMIM:615486
Systemic Lupus Erythematosus 17
Leukopenia, Lymphopenia, Autoimmune thrombocytopenia, Anxiety, Thrombocytopenia OMIM:301080
Lysinuric Protein Intolerance
Hepatosplenomegaly, Hypercholesterolemia, Thrombocytopenia, Increased serum zinc, Intraalveolar p... ORPHA:470
X-Linked Agammaglobulinemia
Anemia, Recurrent cutaneous abscess formation, Thrombocytopenia, Hypocalcemia, Neutropenia ORPHA:47
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia OMIM:156400
Temple Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:616222
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
2P21 Microdeletion Syndrome
Hypocalcemia ORPHA:163693
Laron Syndrome
Hypercholesterolemia ORPHA:633
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Restrictive cardiomyopathy, Atrial septal defect, Hypercalcemia, Abnormal heart morphology, Hyper... ORPHA:369837
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Abnormal erythrocyte enzyme level, Ventricular septal hypertrophy, Elevated circulating creatine ... ORPHA:370
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Autoimmune hemolytic anemia, Lymphopenia OMIM:247800
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypercalcemia, Hypermagnesemia OMIM:600740
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Congestive heart failure, Intracranial hemorrhage, Hypertension, Mitral ... ORPHA:363618
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia OMIM:602080
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hemolytic anemia, Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529799
Aicardi-Goutieres Syndrome 9
Anemia, Hemolytic anemia, Pericardial effusion, Left ventricular hypertrophy, Hepatosplenomegaly,... OMIM:619487
Idiopathic Hypereosinophilic Syndrome
Anemia, Neutrophilia, Dilated cardiomyopathy, Dementia, Hepatosplenomegaly, Myocardial eosinophil... ORPHA:3260
Mucopolysaccharidosis-Plus Syndrome
Leukopenia, Anemia, Atrial septal defect, Hypertrophic cardiomyopathy, Thrombocytopenia, Neutrope... OMIM:617303
Sneddon Syndrome
Bicuspid aortic valve, Tremor, Lymphopenia, Mental deterioration OMIM:182410
Addison Disease
Hyperuricemia, Normocytic anemia, Decreased circulating cortisol level, Hyperkalemia, Increased c... ORPHA:85138
Cholestasis, Progressive Familial Intrahepatic, 8
Hypercholesterolemia, Increased serum bile acid concentration, Conjugated hyperbilirubinemia, Ele... OMIM:619662
Immunodeficiency 21
Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ly... OMIM:614172
Genetic Steroid-Resistant Nephrotic Syndrome
Irritability, Hypoalbuminemia ORPHA:656
Osteopetrosis, Autosomal Recessive 1
Anemia, Pancytopenia, Thrombocytopenia, Hypocalcemia, Splenomegaly OMIM:259700
Pseudohypoparathyroidism, Type Ic
Cognitive impairment, Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia OMIM:612462
Immunodeficiency 95
Lymphopenia OMIM:619773
Isotretinoin-Like Syndrome
Conotruncal defect, Bicuspid aortic valve, Lymphopenia, Aortic valve stenosis, Hypocalcemia, Abno... ORPHA:2306
Renal Tubular Acidosis, Distal, 1
Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia OMIM:179800
Transcobalamin Deficiency
Thrombocytopenia, Neutropenia, Pancytopenia, Lymphopenia ORPHA:859
Poems Syndrome
Pericardial effusion, Thrombocytosis, Polycythemia ORPHA:2905
Liver Disease, Severe Congenital
Subvalvular aortic stenosis, Elevated circulating alpha-fetoprotein concentration, Hyponatremia, ... OMIM:619991
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures ORPHA:93324
Lysosomal Acid Lipase Deficiency
Anemia, Cognitive impairment, Hypersplenism, Hyperkalemia, Psychomotor deterioration, Steatorrhea... ORPHA:275761
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Anemia, Abnormal erythrocyte enzyme level, Elevated circulating creatine kinase concentration, Hy... ORPHA:264580
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia, Anemia OMIM:244460
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Sudden cardiac death, Hyperaldosteronism, Hypocalcemic tetany, Pericardial effusion, Dilated card... ORPHA:73224
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Increased circulating metamyelocyte count, Elevated circulating creatine kinase con... ORPHA:36234
Diamond-Blackfan Anemia 1
Ventricular septal defect, Reticulocytopenia, Atrial septal defect, Thrombocytosis, Tricuspid ste... OMIM:105650
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Decreased circulating ceruloplasmin concentration, Hypoalbuminemia, Increased serum bile acid con... OMIM:242150
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypocalcemia, Hypomagnesemia, Anemia OMIM:175500
Immunodeficiency 76
Lymphopenia, Splenomegaly, T lymphocytopenia, B lymphocytopenia OMIM:619164
S-Adenosylhomocysteine Hydrolase Deficiency
Hypermethioninemia, Cardiomyopathy, Hyperhomocystinemia, Elevated circulating creatine kinase con... ORPHA:88618
Familial Thrombocytosis
Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Thrombocytosis ORPHA:71493
Mitochondrial Trifunctional Protein Deficiency
Cardiomyopathy, Left ventricular hypertrophy, Congestive heart failure, Mitral regurgitation, Arr... ORPHA:746
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatosplenomegaly, Abnormal cardiomyocyte morphology, Dilated cardiomyopathy, Hypoalbuminemia ORPHA:367
Smith-Magenis Syndrome
Hypertriglyceridemia, Self-injurious behavior, Anxiety, Hypercholesterolemia ORPHA:819
Dysbetalipoproteinemia
Hypercholesterolemia, Angina pectoris, Increased LDL cholesterol concentration, Decreased HDL cho... ORPHA:412
Osteopetrosis, Autosomal Recessive 5
Anemia, Hyperbilirubinemia, Pancytopenia, Hepatosplenomegaly, Hypochromic microcytic anemia, Thro... OMIM:259720
Noonan Syndrome 12
Thrombocytopenia, Tetralogy of Fallot, Ventricular septal defect, Lymphopenia OMIM:618624
Liver Failure, Infantile, Transient
Hyperbilirubinemia, Irritability, Hypoalbuminemia OMIM:613070
Immunodeficiency 47
Leukopenia, Normocytic anemia, Decreased circulating copper concentration, Accessory spleen, Hype... OMIM:300972
Diarrhea 10, Protein-Losing Enteropathy Type
Pericardial effusion, Hyponatremia, Hypocalcemia, Hypertriglyceridemia, Hypomagnesemia, Hypoalbum... OMIM:618183
Familial Isolated Hypoparathyroidism
Hypocalcemia, Arrhythmia ORPHA:2238
Pseudohypoparathyroidism Type 1B
Hypocalcemic tetany, Hyperphosphatemia, Anxiety, Calcinosis, Laryngeal dystonia, Hypocalcemic sei... ORPHA:94089
Wilson Disease
Anemia, Hemolytic anemia, Limb dystonia, Decreased circulating ceruloplasmin concentration, Incre... OMIM:277900
Al Amyloidosis
Anemia, Howell-Jolly bodies, Increased circulating NT-proBNP concentration, Hypertrophic cardiomy... ORPHA:85443
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Decreased prealbumin level, Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulato... ORPHA:37042
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Anemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceri... ORPHA:79240
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Anemia, Decreased plasma carnitine, Decreased serum iron, Dilated cardiomyopathy, Anxiety, Abnorm... ORPHA:89842
Bartter Syndrome, Type 1, Antenatal
Increased serum prostaglandin E2, Hyperaldosteronism, Hypokalemia, Low-to-normal blood pressure, ... OMIM:601678
Dahlberg-Borer-Newcomer Syndrome
Mitral valve prolapse, Hypocalcemia ORPHA:1563
Pseudopseudohypoparathyroidism
Hyperphosphatemia, Hypocalcemia ORPHA:79445
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hyperbilirubinemia, Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Splen... OMIM:251880
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Somatostatinoma
Hypochromic microcytic anemia, Steatorrhea, Hypercalcemia, Increased circulating cortisol level ORPHA:97283
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia ORPHA:209902
Secondary Intestinal Lymphangiectasia
Decreased prealbumin level, Secondary hyperaldosteronism, Reduced circulating transferrin concent... ORPHA:90363
Vipoma
Increased circulating cortisol level, Hypokalemia, Hypercalcemia, Normochromic anemia ORPHA:97282
Abetalipoproteinemia
Anemia, Decreased LDL cholesterol concentration, Hyperbilirubinemia, Abnormal circulating apolipo... ORPHA:14
Glucagonoma
Increased circulating cortisol level, Steatorrhea, Normochromic anemia, Hypercalcemia, Acanthocyt... ORPHA:97280
Fibrous Dysplasia Of Bone
Hypophosphatemia, Hypercalcemia, Increased circulating cortisol level ORPHA:249
Immunodeficiency 13
Decreased CD4:CD8 ratio, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Decreased proportion ... OMIM:615518
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased proportion of CD4+C... OMIM:619846
Familial Hypocalciuric Hypercalcemia
Hypocalcemic seizures, Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia ORPHA:405
Mpi-Cdg
Hypoalbuminemia ORPHA:79319
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Juvenile Polyposis Syndrome
Hypokalemia, Anemia, Hypoalbuminemia OMIM:174900
Alg12-Cdg
Patent foramen ovale, B lymphocytopenia, Biventricular hypertrophy, Muscular ventricular septal d... ORPHA:79324
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Cogan Syndrome
Anemia, Thrombocytosis, Leukocytosis ORPHA:1467
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypophosphatemia, Irritability, Hypocalcemia, Hypocalcemic seizures OMIM:264700
Multiple Endocrine Neoplasia, Type I
Hypercalcemia, Increased circulating cortisol level OMIM:131100
Mandibuloacral Dysplasia
Hypertriglyceridemia, Increased circulating free fatty acid level, Hypercholesterolemia ORPHA:2457
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly, Hypoalbuminemia ORPHA:255249
Purine Nucleoside Phosphorylase Deficiency
Increased circulating inosine concentration, Neutropenia in presence of anti-neutropil antibodies... OMIM:613179
Hypotonia-Cystinuria Syndrome
Hypocalcemia OMIM:606407
Purine Nucleoside Phosphorylase Deficiency
Abnormal T cell morphology, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia... ORPHA:760
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hypocalcemia, Hyperkalemia, Hyperphosphatemia ORPHA:99845
Combined Oxidative Phosphorylation Deficiency 37
Hypertrophic cardiomyopathy, Hyperalaninemia, Progressive neurologic deterioration, Hypoalbuminemia OMIM:618329
Congenital Disorder Of Glycosylation, Type Ib
Steatorrhea, Hypoalbuminemia OMIM:602579
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Leukopenia, Anemia, Patent foramen ovale, Atrial septal defect, Hepatosplenomegaly, Hypertrophic ... ORPHA:505248
Marburg Hemorrhagic Fever
Leukopenia, Aggressive behavior, Hypokalemia, Reticulocytosis, Elevated circulating creatine kina... ORPHA:99826
Autosomal Dominant Hypocalcemia
Hyperphosphatemia, Writer's cramp, Emotional lability, Anxiety, Hypocalcemia, Hypomagnesemia ORPHA:428
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Thrombocytosis, Perianal abscess, Leukocytosis, Hypochromic anemia OMIM:618213
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response, Emotional lability OMIM:617028
Gracile Bone Dysplasia
Hypoplastic spleen, Asplenia, Hypocalcemia OMIM:602361
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
T lymphocytopenia, Lymphocytosis, Decreased proportion of CD3-positive T cells, Decreased proport... ORPHA:169154
Ppoma
Gastrointestinal hemorrhage, Hypercalcemia, Increased circulating cortisol level ORPHA:97278
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Thrombocytopenia, Hemolytic anemia, Lymphopenia OMIM:616744
Low Phospholipid-Associated Cholelithiasis
Liver abscess, Hypercholesterolemia ORPHA:69663
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Hypocalcemia OMIM:600081
Congenital Disorder Of Glycosylation, Type Ig
Patent foramen ovale, Hypocalcemia OMIM:607143
Zollinger-Ellison Syndrome
Gastrointestinal hemorrhage, Hematochezia, Hypercalcemia, Increased circulating cortisol level ORPHA:913
Cholera
Hypotension, Hypokalemia, Abnormal blood ion concentration, Hypovolemic shock, Hyponatremia, Hypo... ORPHA:173
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Williams Syndrome
Sudden cardiac death, Abnormal circulating lipid concentration, Abnormal cardiac septum morpholog... ORPHA:904
Megalocornea-Mental Retardation Syndrome
Hypercholesterolemia OMIM:249310
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Chronic neutropenia, Anemia, Hyperuricemia, Cognitive impairment, Abnormal myeloid leukocyte morp... ORPHA:79259
Hypophosphatemic Rickets
Hypophosphatemia, Periapical tooth abscess, Hypercalcemia, Tooth abscess ORPHA:437
Homozygous Familial Hypercholesterolemia
Sudden cardiac death, Heart murmur, Angina pectoris, Hypertension, Supravalvular aortic stenosis,... ORPHA:391665
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia ORPHA:2479
Insulin-Resistance Syndrome Type B
Leukopenia, Abnormal circulating lipid concentration, Abnormal circulating fatty-acid concentrati... ORPHA:2298
Pearson Syndrome
Anemia, Hyperalaninemia, Hypokalemia, Hypophosphatemia, Reticulocytosis, Pancytopenia, Hypoplasti... ORPHA:699
Grfoma
Gastrointestinal hemorrhage, Hypercalcemia, Increased circulating cortisol level ORPHA:97261
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Hypocalcemic Vitamin D-Dependent Rickets
Hypophosphatemia, Irritability, Hypocalcemia, Hypocalcemic seizures ORPHA:289157
Hyperparathyroidism-Jaw Tumor Syndrome
Hypophosphatemia, Shortened QT interval, Hypercalcemia ORPHA:99880
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutrophil chemotaxis, ... OMIM:618986
Pseudohypoparathyroidism Type 1C
Hypocalcemic tetany, Hyperphosphatemia, Anxiety, Calcinosis, Laryngeal dystonia, Hypocalcemic sei... ORPHA:79444
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia, Cognitive impairment, Mental deterioration OMIM:618476
Ataxia-Telangiectasia
Tremor, Cognitive impairment, Lymphopenia ORPHA:100
Parathyroid Carcinoma
Hypophosphatemia, Shortened QT interval, Hypercalcemia ORPHA:143
Immunodeficiency 44
Lymphopenia OMIM:616636
Stiff-Person Syndrome
Anemia, Exaggerated startle response, Anxiety, Agoraphobia, Opisthotonus OMIM:184850
Kenny-Caffey Syndrome, Type 2
Anemia, Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia OMIM:127000
Adult Idiopathic Neutropenia
Monocytopenia, Lymphopenia, Abnormal neutrophil count, Monocytosis, Neutropenia ORPHA:2688
Gm2 Gangliosidosis, Ab Variant
Abnormal fear/anxiety-related behavior, Exaggerated startle response, Cognitive impairment, Anxie... ORPHA:309246
Multiple Endocrine Neoplasia Type 2
Hypercalcemia, Anxiety ORPHA:653
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lymphopenia, T lymphocytopenia, B lymphocytopenia ORPHA:277
Bardet-Biedl Syndrome 20
Atrial septal defect, Hypercholesterolemia OMIM:619471
Sarcoidosis
Leukopenia, Anemia, Hemolytic anemia, Increased T cell count, Hypercalcemia, Eosinophilia, Thromb... ORPHA:797
Pseudohypoparathyroidism Type 1A
Hypocalcemic tetany, Hyperphosphatemia, Anxiety, Calcinosis, Choreoathetosis, Abnormal platelet f... ORPHA:79443
Multiple Endocrine Neoplasia Type 4
Hypercalcemia, Increased circulating cortisol level ORPHA:276152
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia ORPHA:93160
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Hypercholesterolemia ORPHA:90674
Sandhoff Disease, Infantile Form
Mitral valve prolapse, Mitral regurgitation, Exaggerated startle response ORPHA:309155
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Anemia, Ventricular septal defect, Hyperbilirubinemia, Atrial septal defect, Thrombocytopenia, Hy... ORPHA:163979
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Dilated cardiomyopathy, Atrial septal defect, Myocardial fibrosis, ... OMIM:253800
Velocardiofacial Syndrome
Aggressive behavior, Ventricular septal defect, Emotional lability, Hypocalcemia, Tetralogy of Fa... OMIM:192430
Stiff Person Spectrum Disorder
Agoraphobia, Exaggerated startle response, Emotional lability, Anxiety ORPHA:3198
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Ventricular septal defect, Pericardial effusion, Atrial septal defect, Pericardial lymphangiectas... OMIM:235510
Tay-Sachs Disease
Exaggerated startle response, Apathy, Psychomotor deterioration, Dementia OMIM:272800
Juvenile Polyposis Of Infancy
Anemia, Atrial septal defect, Abnormal heart morphology, Refractory anemia, Hypoalbuminemia ORPHA:79076
Aromatic L-Amino Acid Decarboxylase Deficiency
Exaggerated startle response, Blepharospasm, Limb dystonia, Torticollis, Choreoathetosis, Oculogy... OMIM:608643
Williams-Beuren Syndrome
Coronary artery stenosis, Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse... OMIM:194050
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hyperlipidemia, Hypercholesterolemia OMIM:248370
Immunodeficiency 85 And Autoimmunity
Reduced natural killer cell count, T lymphocytopenia, Lymphopenia, Decreased proportion of memory... OMIM:619510
Proteasome-Associated Autoinflammatory Syndrome 3
Anemia, Lymphopenia, Thrombocytopenia, Hypertriglyceridemia, Splenomegaly OMIM:617591
Lujo Hemorrhagic Fever
Leukopenia, Anxiety, Resting tremor, Lymphopenia, Elevated circulating C-reactive protein concent... ORPHA:319213
Ethylene Glycol Poisoning
Hypotension, Hyperkalemia, Congestive heart failure, Hypertension, Shock, Prolonged QT interval, ... ORPHA:31826
Multiple Endocrine Neoplasia Type 1
Increased circulating cortisol level, Hypertension, Primary hypercortisolism, Hypercalcemia, Hema... ORPHA:652
Gitelman Syndrome
Abnormal T-wave, Pericardial effusion, Hypokalemia, Primary hyperaldosteronism, Low-to-normal blo... ORPHA:358
Bone Marrow Failure Syndrome 6
Anemia, Lymphopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia OMIM:618849
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypertension, Hypercholesterolemia OMIM:151660
Osteopetrosis With Renal Tubular Acidosis
Leukopenia, Anemia, Elliptocytosis, Pancytopenia, Elevated circulating creatine kinase concentrat... ORPHA:2785
Infection-Related Hemolytic Uremic Syndrome
Brain abscess, Hemolytic anemia, Hypocalcemia, Hyperkalemia, Leukocytosis, Hyponatremia, Thromboc... ORPHA:544482
Cartilage-Hair Hypoplasia
Anemia, Cognitive impairment, Abnormal cardiac septum morphology, Hypocalcemia, Neutropenia, Card... ORPHA:175
Tay-Sachs Disease
Increased serum beta-hexosaminidase, Exaggerated startle response, Hepatosplenomegaly, Tremor, Dy... ORPHA:845
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal natural killer cell count, Abnormal B cell count, Hepatosplenomegaly, Lymphopenia, Autoi... ORPHA:331206
Mirage Syndrome
Leukopenia, Anemia, Hyperkalemia, Lymphopenia, Thrombocytopenia, Hyponatremia, Hypoplastic spleen OMIM:617053
Ataxia-Telangiectasia
Hypoplasia of the thymus, T lymphocytopenia, Choreoathetosis, Acute lymphoblastic leukemia, Lymph... OMIM:208900
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia, Monocytosis, Apl... ORPHA:486
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, Increased proportion of transitional B cells, B lymphocytopenia, Decr... OMIM:616005
Immunodeficiency 82 With Systemic Inflammation
Anemia, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, Decreased propor... OMIM:619381
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Sanjad-Sakati Syndrome
Hypocalcemia, Hyperphosphatemia ORPHA:2323
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Calcinosis, Hypokalemia, Hyponatremia, Hypocalcemia, Splenomegaly OMIM:617913
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Perianal abscess, Impaired neutrophil chemotaxis, Polycythemia, Impaired ... ORPHA:2968
Juvenile Nephropathic Cystinosis
Hypocalcemic tetany, Hypovolemia, Hypophosphatemia, Hypokalemia, Hyponatremia, Elevated circulati... ORPHA:411634
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Cognitive impairment, Hyperphosphatemia OMIM:103580
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:619055
Autosomal Recessive Malignant Osteopetrosis
Anemia, Hypophosphatemia, Tremor, Abnormal pulmonary valve morphology, Hypocalcemia, Splenomegaly ORPHA:667
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbu... OMIM:617156
Oculocerebrorenal Syndrome Of Lowe
Anemia, Hyperaldosteronism, Hyponatremia, Anxiety, Self-injurious behavior, Hypokalemia, Hypophos... ORPHA:534
Legionnaires Disease
Endocarditis, Lymphopenia, Pericarditis, Hyponatremia, Myocarditis, Splenomegaly ORPHA:549
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Aggressive behavior, Irritability, Lymphopenia ORPHA:391307
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Immunodeficiency 49
T lymphocytopenia, Decreased proportion of naive CD4 T cells, Lymphopenia, Abnormally low T cell ... OMIM:617237
Sotos Syndrome
Aggressive behavior, Ventricular septal defect, Acute lymphoblastic leukemia, Atrial septal defec... ORPHA:821
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Abnormal heart morphology, Hypocalcemic seizures ORPHA:2237
Hyperekplexia 3
Exaggerated startle response, Syncope OMIM:614618
Schimke Immuno-Osseous Dysplasia
Anemia, Lymphopenia, Hyperlipidemia, Decreased proportion of naive CD8 T cells, Thrombocytopenia,... ORPHA:1830
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Conjugated hyperbilirubinemia, Hypoalbuminemia ORPHA:186
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Anemia, Hypoalbuminemia ORPHA:79396
Craniofacioskeletal Syndrome
Hypocalcemia, Ventricular septal defect, Atrial septal defect OMIM:300712
Immunodeficiency 87 And Autoimmunity
Atrioventricular canal defect, Decreased CD4:CD8 ratio, Hemolytic anemia, Hypokalemia, Dilated ca... OMIM:619573
Biliary, Renal, Neurologic, And Skeletal Syndrome
Atrioventricular canal defect, Unbalanced atrioventricular canal defect, Cardiac arrest, Secundum... OMIM:619534
Xfe Progeroid Syndrome
Hypoalbuminemia OMIM:610965
Visceral Steatosis, Congenital
Hypocalcemia, Myocardial steatosis OMIM:228100
Galloway-Mowat Syndrome 1
Dystonia, Hypoalbuminemia OMIM:251300
Exercise-Induced Malignant Hyperthermia
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration, Thrombocytop... ORPHA:466650
Hennekam Syndrome
Pericardial effusion, Hypocalcemia, Splenomegaly, Lymphopenia ORPHA:2136
Rajab Interstitial Lung Disease With Brain Calcifications 1
Anemia, Unconjugated hyperbilirubinemia, Pancytopenia, Hypocalcemia, Hypoalbuminemia OMIM:613658
Pierson Syndrome
Hypoproteinemia OMIM:609049
Alagille Syndrome 1
Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Hypercholesterolemia, Hyper... OMIM:118450
Galloway-Mowat Syndrome 3
Hypoalbuminemia OMIM:617729
Lowe Oculocerebrorenal Syndrome
Elevated maternal serum alpha-fetoprotein, Aggressive behavior, Elevated amniotic fluid alpha-fet... OMIM:309000
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Pancytopenia, Lymphopenia OMIM:619767
Short Stature, Microcephaly, And Endocrine Dysfunction
Anemia, Abnormal circulating lipid concentration, Cognitive impairment, Dilated cardiomyopathy, L... OMIM:616541
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Reduced natural killer cell count, Neutropenia, Cutaneous abscess, Lymphopenia OMIM:619752
Cyclic Neutropenia
Perianal abscess, Decreased eosinophil count, Lymphopenia, Cyclic neutropenia, Thrombocytopenia, ... ORPHA:2686
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Apathy, Dystonia, Dementia OMIM:272750
Thymic Aplasia
Hypocalcemic tetany, T lymphocytopenia, Coombs-positive hemolytic anemia, Decreased proportion of... ORPHA:83471
Pediatric Systemic Lupus Erythematosus
Leukopenia, Cognitive impairment, Pericardial effusion, Microangiopathic hemolytic anemia, Lympho... ORPHA:93552
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Sandhoff Disease
Cardiomegaly, Exaggerated startle response, Progressive psychomotor deterioration, Hepatosplenome... OMIM:268800
Pgm3-Cdg
Leukopenia, Reduced natural killer cell count, T lymphocytopenia, Hemolytic anemia, Abnormal prop... ORPHA:443811
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
Doors Syndrome
Double outlet right ventricle, Thrombocytosis ORPHA:79500
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Anemia, Hypoplasia of the thymus, Perianal abscess, Pulmonic stenosis, Secundum atria... OMIM:612541
22Q11.2 Deletion Syndrome
Abnormality of thrombocytes, Hypoplasia of the thymus, Ventricular septal defect, Truncus arterio... ORPHA:567
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Leukopenia, Anemia, Reticulocytopenia, B lymphocytopenia, Noncompaction cardiomyopathy, Lymphopen... ORPHA:508542
Smith-Lemli-Opitz Syndrome
Splenomegaly, Aggressive behavior, Ventricular septal defect, Atrial septal defect, Hypertrophic ... OMIM:270400
Vici Syndrome
Leukopenia, T lymphocytopenia, Left ventricular hypertrophy, Dilated cardiomyopathy, Lymphopenia,... OMIM:242840
T-Cell Immunodeficiency With Thymic Aplasia
T lymphocytopenia, Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplen... OMIM:242700
Steinert Myotonic Dystrophy
Hypercholesterolemia, Aggressive behavior, Cognitive impairment, Anxiety, Dilated cardiomyopathy,... ORPHA:273
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased proportion of CD3-positive T cells, Lymphopenia, Eosinophilia, Hepatosplenomegaly ORPHA:169160
Primary Sclerosing Cholangitis
Abnormal eosinophil morphology, Hepatosplenomegaly, Histiocytosis, Splenomegaly, Hypoalbuminemia ORPHA:171
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Perianal abscess, Hemolytic anemia, Granuloma, Lymphopenia, Hepatosplenomegaly, Impaired oxidativ... OMIM:618935
Juvenile Polyposis Syndrome
Brain abscess, Anemia, Hypoproteinemia ORPHA:2929
Tropical Endomyocardial Fibrosis
Restrictive cardiomyopathy, Coronary artery stenosis, Right ventricular cardiomyopathy, Endocardi... ORPHA:75565
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Splenomegaly, Lymphopenia, Autoimmune thrombocytopenia OMIM:616100
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response, Irritability OMIM:616881
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Bradycardia OMIM:608800
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
B lymphocytopenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Aplasia of ... OMIM:602450
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Dystonia, Cardiomyopathy ORPHA:79255
Dyskeratosis Congenita, Autosomal Dominant 1
Leukopenia, Anemia, Lymphopenia, Increased mean corpuscular volume, Thrombocytopenia, Aplastic an... OMIM:127550
Autosomal Dominant Kenny-Caffey Syndrome
Anemia, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures ORPHA:93325
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Dystonia, Anxiety ORPHA:438216
Ebola Hemorrhagic Fever
Leukopenia, Thrombocytopenia, Lymphopenia ORPHA:319218
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response, Irritability OMIM:617864
Icf Syndrome
Anemia, Lymphopenia, Abnormality of neutrophils ORPHA:2268
Cranioectodermal Dysplasia 1
Bicuspid aortic valve, Hypocalcemia OMIM:218330
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Exaggerated startle response, Tremor OMIM:618056
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Lipodystrophy, Familial Partial, Type 7
Pulmonary arterial hypertension, Hypertension, Hypercholesterolemia, Orthostatic hypotension, Hyp... OMIM:606721
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Severe B lymphocytopenia, Autoimmune... OMIM:102700
Autoimmune Lymphoproliferative Syndrome
Increased B cell count, Abnormal proportion of CD8-positive T cells, Coombs-positive hemolytic an... ORPHA:3261
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
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Reynolds Syndrome
Calcinosis, Hyperbilirubinemia, Steatorrhea, Lymphopenia, Splenomegaly OMIM:613471
Charge Syndrome
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Secundum atrial sept... OMIM:214800
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Digeorge Syndrome
Anemia, Hypoplasia of the thymus, Truncus arteriosus, Ventricular septal defect, Thrombocytopenia... OMIM:188400
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Subvalvular aortic stenosis, Double outlet right ventricle, Mitral atresia, Hemolytic anemia, Ven... OMIM:619503
Hyperekplexia 1
Exaggerated startle response OMIM:149400
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Hepatosplenomegaly, Impaired lymphocyte transf... ORPHA:35078
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Patent foramen ovale, T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutr... ORPHA:391487
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Anemia, Cognitive impairment, Lymphopenia ORPHA:935
Wiskott-Aldrich Syndrome
Anemia, Hypoplasia of the thymus, Hemolytic anemia, Abnormal platelet function, Abnormal eosinoph... ORPHA:906
Johanson-Blizzard Syndrome
Increased VLDL cholesterol concentration, Ventricular septal defect, Dilated cardiomyopathy, Atri... OMIM:243800
Immunodeficiency 55
Neutropenia, Absent natural killer cells, Lymphopenia OMIM:617827
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
Acrodysostosis With Multiple Hormone Resistance
Hypocalcemia, Hyperphosphatemia ORPHA:280651
Cushing Disease
Increased circulating cortisol level, Suicidal ideation, Decreased eosinophil count, Lymphopenia,... ORPHA:96253
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Cognitive impairment OMIM:617527
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Patent foramen ovale, Anemia, Exaggerated startle response, Ventricular septal defect, Bicuspid a... ORPHA:438213
Wiskott-Aldrich Syndrome
Absent microvilli on the surface of peripheral blood lymphocytes, Decreased proportion of CD8-pos... OMIM:301000
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Autosomal Recessive Hypophosphatemic Rickets
Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia, Tooth abscess ORPHA:289176
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Dystonia ORPHA:521426
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Common Variable Immunodeficiency
Hemolytic anemia, Splenomegaly, Lymphopenia, Autoimmune thrombocytopenia ORPHA:1572
Cushing Syndrome Due To Ectopic Acth Secretion
Increased circulating cortisol level, Suicidal ideation, Anxiety, Decreased eosinophil count, Lym... ORPHA:99889
Pmm2-Cdg
Impaired neutrophil chemotaxis, Pericardial effusion, Pericarditis, Hypertrophic cardiomyopathy, ... ORPHA:79318
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Ventricular septal defect, Atrial septal defect OMIM:619522
Mandibulofacial Dysostosis, Guion-Almeida Type
Ventricular septal defect, Atrial septal defect OMIM:610536
Mandibulofacial Dysostosis-Microcephaly Syndrome
Atrial septal defect ORPHA:79113

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 Eftud2

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 Eftud2.

No publications found that use IMPC mice or data for Eftud2.

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MGI Allele Allele Type Produced
Eftud2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Eftud2tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice

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