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Gene: Prkab2 MGI:1336185

Gene Summary

Name:

protein kinase, AMP-activated, beta 2 non-catalytic subunit

Synonyms:

5730553K21Rik

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	Allele	Zyg	Life Stage	P Value
decreased mean platelet volume	Prkab2^{tm1b(EUCOMM)Hmgu}	HET	Early adult	9.27×10^-05
preweaning lethality, incomplete penetrance	Prkab2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00
increased eosinophil cell number	Prkab2^{tm1b(EUCOMM)Hmgu}	HET	Early adult	1.17×10^-06

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Aorta	Wholemount images	heterozygote	100% (2 of 2)
Brain	Wholemount images	heterozygote	100% (2 of 2)
Brainstem	Wholemount images	heterozygote	100% (2 of 2)
Cerebellum	Wholemount images	heterozygote	100% (2 of 2)
Cerebral cortex	Wholemount images	heterozygote	100% (2 of 2)
Esophagus	Wholemount images	heterozygote	100% (2 of 2)
Eye	Wholemount images	heterozygote	100% (2 of 2)
Gall bladder	Wholemount images	heterozygote	100% (2 of 2)
Heart	Wholemount images	heterozygote	100% (2 of 2)
Hippocampus	Wholemount images	heterozygote	100% (2 of 2)
Hypothalamus	Wholemount images	heterozygote	100% (2 of 2)
Kidney	Wholemount images	heterozygote	100% (2 of 2)
Large intestine	Wholemount images	heterozygote	100% (2 of 2)
Lower urinary tract	Wholemount images	heterozygote	100% (2 of 2)
Lung	Wholemount images	heterozygote	100% (2 of 2)
Olfactory lobe	Wholemount images	heterozygote	100% (2 of 2)
Oral epithelium	Wholemount images	heterozygote	100% (2 of 2)
Ovary	Wholemount images	heterozygote	50% (1 of 2)
Oviduct	Wholemount images	heterozygote	50% (1 of 2)
Parathyroid gland	Wholemount images	heterozygote	100% (2 of 2)
Peripheral nervous system	Wholemount images	heterozygote	100% (2 of 2)
Pituitary gland	Wholemount images	heterozygote	100% (2 of 2)
Spinal cord	Wholemount images	heterozygote	100% (2 of 2)
Stomach	Wholemount images	heterozygote	100% (2 of 2)
Striatum	Wholemount images	heterozygote	100% (2 of 2)
Testis	Wholemount images	heterozygote	50% (1 of 2)
Uterus	Wholemount images	heterozygote	50% (1 of 2)
Vascular system	Wholemount images	heterozygote	100% (2 of 2)
Adrenal gland	N/A	heterozygote	0.0% (0 of 2)
Bone	N/A	heterozygote	0.0% (0 of 2)
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lymph node	N/A	heterozygote	0.0% (0 of 2)
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Pancreas	N/A	heterozygote	0.0% (0 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Prostate gland	N/A	heterozygote	0.0% (0 of 2)
Skeletal muscle	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	heterozygote	0.0% (0 of 2)
Small intestine	N/A	heterozygote	0.0% (0 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	0.0% (0 of 2)
Trachea	N/A	heterozygote	0.0% (0 of 2)
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Brain	N/A	heterozygote	100% (1 of 1)
Brain	N/A	homozygote	100% (1 of 1)
Ear	N/A	heterozygote	Not available
Ear	N/A	homozygote	Not available
Embryo	N/A	heterozygote	100% (1 of 1)
Embryo	N/A	homozygote	100% (1 of 1)
Eye	N/A	heterozygote	100% (1 of 1)
Eye	N/A	homozygote	100% (1 of 1)
Footplate	N/A	heterozygote	0.0% (0 of 1)
Footplate	N/A	homozygote	0.0% (0 of 1)
Forebrain	N/A	heterozygote	100% (1 of 1)
Forebrain	N/A	homozygote	100% (1 of 1)
Forelimb	N/A	heterozygote	0.0% (0 of 1)
Forelimb	N/A	homozygote	0.0% (0 of 1)
Handplate	N/A	heterozygote	0.0% (0 of 1)
Handplate	N/A	homozygote	0.0% (0 of 1)
Head	N/A	heterozygote	100% (1 of 1)
Head	N/A	homozygote	100% (1 of 1)
Heart	N/A	heterozygote	100% (1 of 1)
Heart	N/A	homozygote	100% (1 of 1)
Hindbrain	N/A	heterozygote	100% (1 of 1)
Hindbrain	N/A	homozygote	100% (1 of 1)
Hindlimb	N/A	heterozygote	0.0% (0 of 1)
Hindlimb	N/A	homozygote	0.0% (0 of 1)
Liver	N/A	heterozygote	Not available
Liver	N/A	homozygote	Not available
Lung	N/A	heterozygote	Not available
Lung	N/A	homozygote	Not available
Mandibular process	N/A	heterozygote	Not available
Mandibular process	N/A	homozygote	Not available
Maxillary process	N/A	heterozygote	Not available
Maxillary process	N/A	homozygote	Not available
Midbrain	N/A	heterozygote	100% (1 of 1)
Midbrain	N/A	homozygote	100% (1 of 1)
Oral cavity	N/A	heterozygote	Not available
Oral cavity	N/A	homozygote	Not available
Skin	N/A	heterozygote	Not available
Skin	N/A	homozygote	Not available
Tail somite	N/A	heterozygote	Not available
Tail somite	N/A	homozygote	Not available
Tail	N/A	heterozygote	0.0% (0 of 1)
Tail	N/A	homozygote	100% (1 of 1)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy	Background staining in controls (WT)
adrenal gland	0.67% (4 of 598)
aorta	0.17% (1 of 598)
bone	0.0%
brain	0.84% (5 of 598)
brainstem	0.33% (2 of 598)
brown adipose tissue	0.0%
cartilage tissue	0.17% (1 of 598)
cerebellum	0.5% (3 of 598)
cerebral cortex	0.33% (2 of 598)
esophagus	1.66% (7 of 422)
eye	0.0%
gall bladder	0.0%
heart	0.33% (2 of 598)
hippocampus	0.5% (3 of 598)
hypothalamus	0.33% (2 of 598)
kidney	4.52% (27 of 598)
large intestine	5.35% (32 of 598)
liver	0.0%
lower urinary tract	0.17% (1 of 598)
lung	0.33% (2 of 598)
lymph node	0.17% (1 of 598)
mammary gland	0.0%
olfactory lobe	0.33% (2 of 598)
oral epithelium	0.0%
ovary	0.17% (1 of 598)
oviduct	0.0%
pancreas	0.84% (5 of 598)
parathyroid gland	0.17% (1 of 576)
peripheral nervous system	0.33% (2 of 598)
peyers patch	0.0%
pituitary gland	0.17% (1 of 598)
prostate gland	2.17% (13 of 598)
skeletal muscle	0.0%
skin	0.17% (1 of 598)
small intestine	5.35% (32 of 598)
spinal cord	0.5% (3 of 598)
spleen	0.5% (3 of 598)
stomach	3.68% (22 of 598)
striatum	0.5% (3 of 598)
testis	1% (6 of 598)
thymus	0.17% (1 of 598)
thyroid gland	3.01% (18 of 598)
trachea	0.5% (3 of 598)
uterus	0.33% (2 of 598)
vascular system	0.0%
white adipose tissue	0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy	Background staining in controls(WT)
brain	1.17% (6 of 511)
ear	0.2% (1 of 511)
embryo	0.39% (2 of 512)
eye	0.2% (1 of 511)
footplate	0.2% (1 of 511)
forebrain	0.2% (1 of 511)
forelimb	0.2% (1 of 511)
handplate	0.2% (1 of 511)
head	0.98% (5 of 511)
heart	0.2% (1 of 511)
hindbrain	1.17% (6 of 511)
hindlimb	0.2% (1 of 511)
liver	0.2% (1 of 506)
lung	0.2% (1 of 506)
mandibular process	0.2% (1 of 511)
maxillary process	0.2% (1 of 511)
midbrain	0.2% (1 of 511)
oral cavity	0.2% (1 of 506)
skin	0.2% (1 of 511)
tail	0.2% (1 of 511)
tail somite group	0.2% (1 of 511)

Associated Images

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

Embryo LacZ

LacZ images wholemount

8 Images

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Adult LacZ

LacZ Images Wholemount

18 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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MicroCT E18.5

Embryo reconstruction

2 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

3 Images

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Immunophenotyping

Panel B FCS file(s)

8 Images

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Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

3 Images

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Immunophenotyping

Panel A FCS file(s)

8 Images

View images

Human diseases caused by Prkab2 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.

Human diseases associated with Prkab2 (0 diseases)
Human diseases predicted to be associated with Prkab2 (617 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Prkab2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Thrombocytopenia 4	Thrombocytopenia, Abnormal platelet volume	OMIM:612004
Hyperinsulinism Due To Insr Deficiency	Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ...	ORPHA:263458
Nevoid Hypermelanosis, Linear And Whorled	Eosinophilia	OMIM:614323
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Immunodeficiency 88	Eosinophilia	OMIM:619630
Neutropenia, Lethal Congenital, With Eosinophilia	Neutropenia, Eosinophilia	OMIM:257100
Myeloproliferative Disorder, Chronic, With Eosinophilia	Eosinophilia, Myeloproliferative disorder	OMIM:131440
Eosinophilia, Familial	Anemia, Thrombocytopenia, Leukocytosis, Eosinophilia	OMIM:131400
Hyperinsulinism Due To Glucokinase Deficiency	Hypoketotic hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Recurrent hyp...	ORPHA:79299
Multiple Symmetric Lipomatosis	Multiple lipomas, Abnormal adipose tissue morphology, Insulin resistance, Arthralgia	ORPHA:2398
Hyperinsulinemic Hypoglycemia, Familial, 3	Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:602485
Eosinophil Peroxidase Deficiency	Eosinophil nuclear hypersegmentation	OMIM:261500
Bleeding Disorder, Platelet-Type, 15	Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume	OMIM:615193
Hyperinsulinemic Hypoglycemia, Familial, 5	Elevated circulating insulin:C-peptide ratio, Hypoglycemic seizures, Fasting hyperinsulinemia, Hy...	OMIM:609968
Type 2 Diabetes Mellitus	Type II diabetes mellitus, Insulin resistance	OMIM:125853
Diabetes Mellitus, Transient Neonatal, 2	Type II diabetes mellitus, Transient neonatal diabetes mellitus	OMIM:610374
Hyperinsulinemic Hypoglycemia, Familial, 7	Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Pancreatic ...	OMIM:610021
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Myopathy, Hypoglycemia, Hypertriglyceridemia	ORPHA:366
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc...	OMIM:202700
Storage Pool Platelet Disease	Decreased mean platelet volume, Acute leukemia	OMIM:185050
Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus	Neonatal insulin-dependent diabetes mellitus	OMIM:600089
Coronary Artery Disease, Autosomal Dominant 2	Sudden cardiac death, Impaired glucose tolerance, Type II diabetes mellitus, Increased LDL choles...	OMIM:610947
Short Stature Due To Primary Acid-Labile Subunit Deficiency	Delayed puberty, Insulin resistance, Decreased serum insulin-like growth factor 1	ORPHA:140941
Bleeding Disorder, Platelet-Type, 16	Anemia, Impaired platelet aggregation, Thrombocytopenia, Giant platelets, Platelet anisocytosis, ...	OMIM:187800
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia...	ORPHA:411593
Platelet Glycoprotein Iv Deficiency	Thrombocytopenia, Giant platelets	OMIM:608404
Acute Myelomonocytic Leukemia	Leukocytosis, Anemia, Thrombocytopenia, Eosinophilia	ORPHA:517
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Ichthyosis-Prematurity Syndrome	Eosinophilia	ORPHA:88621
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement	Insulin resistance	OMIM:200170
Plin1-Related Familial Partial Lipodystrophy	Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue, Insulin-resistant diabetes mellitu...	ORPHA:280356
Glycogen Storage Disease Vi	Hypoglycemia, Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia	OMIM:232700
Lipase Deficiency, Combined	Lipodystrophy, Hypertriglyceridemia, Type II diabetes mellitus	OMIM:246650
Bleeding Disorder, Platelet-Type, 24	Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation...	OMIM:619271
Obesity Due To Melanocortin 4 Receptor Deficiency	Type II diabetes mellitus, Hyperinsulinemia, Hypertriglyceridemia, Increased adipose tissue	ORPHA:71529
Diabetes Mellitus, Ketosis-Prone	Diabetes mellitus, Beta-cell dysfunction, Insulin resistance	OMIM:612227
Hypertriglyceridemia 1	Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance, Hypopituitarism	OMIM:145750
Hyperlipoproteinemia, Type Iv	Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance, Hypopituitarism	OMIM:144600
Gne Myopathy	Tibialis muscle weakness, Increased variability in muscle fiber diameter, Weakness of long finger...	ORPHA:602
Lipodystrophy, Familial Partial, Type 1	Increased facial adipose tissue, Loss of gluteal subcutaneous adipose tissue, Increased adipose t...	OMIM:608600
Hyperinsulinemic Hypoglycemia, Familial, 1	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia	OMIM:256450
Lipodystrophy, Familial Partial, Type 4	Insulin resistance, Lipodystrophy, Skeletal muscle hypertrophy, Insulin-resistant diabetes mellit...	OMIM:613877
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant	Increased variability in muscle fiber diameter, Z-band streaming, Proximal muscle weakness, Autop...	OMIM:618655
Hyperinsulinemic Hypoglycemia, Familial, 2	Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia	OMIM:601820
Lipodystrophy, Familial Partial, Type 3	Hyperinsulinemia, Hyperuricemia, Loss of gluteal subcutaneous adipose tissue, Reduced subcutaneou...	OMIM:604367
Mitochondrial Myopathy With Diabetes	Proximal muscle weakness, Weakness of orbicularis oculi muscle, Type II diabetes mellitus, EMG: m...	OMIM:500002
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Insulin resistance, Lipodystrophy, Diabetes mellitus, Genera...	OMIM:612526
Morbid Obesity And Spermatogenic Failure	Type II diabetes mellitus, Insulin resistance, Increased LDL cholesterol concentration, Decreased...	OMIM:615703
Insulinomatosis And Diabetes Mellitus	Multiple pancreatic beta-cell adenomas, Impaired glucose tolerance, Type II diabetes mellitus, Hy...	OMIM:147630
Hereditary Myopathy With Early Respiratory Failure	Tibialis muscle weakness, Muscle fiber splitting, Increased variability in muscle fiber diameter,...	ORPHA:178464
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Lipe-Related Familial Partial Lipodystrophy	Loss of gluteal subcutaneous adipose tissue, Insulin resistance, Increased adipose tissue around ...	ORPHA:435660
Giant platelet syndrome with thrombocytopenia	Thrombocytopenia, Giant platelets	OMIM:137560
Akt2-Related Familial Partial Lipodystrophy	Insulin resistance, Lipodystrophy, Decreased serum leptin, Decreased adiponectin level, Increased...	ORPHA:79085
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Macrothrombocytopenia, Impaired platelet aggregation	OMIM:613112
Body Mass Index Quantitative Trait Locus 19	Hyperinsulinemia, Increased serum leptin, Insulin resistance, Hyperlipidemia, Hypertriglyceridemia	OMIM:617885
Hyperinsulinemic Hypoglycemia, Familial, 6	Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Asymptomatic hyperammonemia, Hy...	OMIM:606762
Hypoglycemia, Leucine-Induced	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
Macrosomia Adiposa Congenita	Eosinophilia	OMIM:248100
Cortisone Reductase Deficiency 2	Insulin resistance, Premature pubarche	OMIM:614662
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Fatty replacement of skeletal muscle, Elevated circulating thyroid-stimulating hormone concentrat...	ORPHA:171706
Hyperinsulinism Due To Hnf1A Deficiency	Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Ketotic hypoglycemia, Decr...	ORPHA:324575
Myopathy, Distal, With Rimmed Vacuoles	Increased variability in muscle fiber diameter, Z-band streaming, Internally nucleated skeletal m...	OMIM:617158
Neutral Lipid Storage Disease With Myopathy	Elevated circulating creatine kinase concentration, Myalgia, Diabetes mellitus, Exercise intolera...	OMIM:610717
Familial Partial Lipodystrophy, Köbberling Type	Lipoatrophy, Hyperinsulinemia, Insulin resistance, Diabetes mellitus	ORPHA:79084
Lipodystrophy, Familial Partial, Type 6	Abnormal circulating lipid concentration, Lower limb muscle weakness, Muscular dystrophy, Insulin...	OMIM:615980
Growth Hormone Insensitivity Syndrome	Diabetes insipidus, Hypogonadism, Type II diabetes mellitus, Insulin resistance, Diabetes mellitu...	ORPHA:181393
Thrombocytopenia With Beta-Thalassemia, X-Linked	Splenomegaly, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Thrombocytopen...	OMIM:314050
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Primary gonadal insufficiency, Hypertriglyceridemia, Insulin-resistant diabetes mellitus	ORPHA:436182
Hyperinsulinism-Hyperammonemia Syndrome	Asymptomatic hyperammonemia, Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hy...	ORPHA:35878
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Proximal mu...	ORPHA:266
Glycogen Storage Disease Ixa1	Hyperuricemia, Hypoglycemia, Hypercholesterolemia, Hypertriglyceridemia, Fatigue	OMIM:306000
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Hypoketotic hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia,...	ORPHA:276608
Alpha-B Crystallin-Related Late-Onset Myopathy	Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Autophagic vacuoles,...	ORPHA:399058
Polyglucosan Body Myopathy 2	Limb-girdle muscle weakness, Pelvic girdle amyotrophy, Pelvic girdle muscle weakness, Muscle fibe...	OMIM:616199
Eosinophilopenia	Decreased eosinophil count	OMIM:131430
Cidec-Related Familial Partial Lipodystrophy	Loss of gluteal subcutaneous adipose tissue, Calf muscle hypertrophy, Lipodystrophy, Decreased se...	ORPHA:435651
Hypereosinophilic Syndrome, Idiopathic	Splenomegaly, Eosinophilia, Myeloproliferative disorder	OMIM:607685
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	Increased variability in muscle fiber diameter, Neck flexor weakness, Proximal muscle weakness, C...	OMIM:254110
Myofibrillar Myopathy 11	Increased variability in muscle fiber diameter, Z-band streaming, Proximal muscle weakness, Centr...	OMIM:619178
Juvenile Temporal Arteritis	Leukocytosis, Eosinophilia	ORPHA:26137
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26	Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Proximal mu...	OMIM:618848
Short Stature Due To Ghsr Deficiency	Delayed puberty, Hypoglycemia, Abdominal pain, Decreased serum insulin-like growth factor 1	ORPHA:314811
Short Stature Due To Partial Ghr Deficiency	Delayed puberty, Hypoglycemia, Decreased serum insulin-like growth factor 1	ORPHA:314802
Acquired Partial Lipodystrophy	Lipoatrophy, Myopathy, Insulin resistance, Arthralgia	ORPHA:79087
Thrombocytopenia 1	Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia	OMIM:313900
Inclusion Body Myositis	Proximal muscle weakness, Abnormal muscle fiber morphology, Ragged-red muscle fibers, Myalgia, In...	ORPHA:611
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia	ORPHA:2582
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperglycemia, Hyperinsulinemia, Hyperlipidemia	ORPHA:329249
Oculopharyngodistal Myopathy 2	Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, External op...	OMIM:618940
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Proximal muscle weakness, Weakness of facial musculature, Angulated muscle fibers, Fatigue, Scapu...	OMIM:619477
Homozygous 11P15-P14 Deletion Syndrome	Hyperinsulinemia, Hypoglycemia	OMIM:606528
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Maternal diabetes, Type I ...	ORPHA:276580
Congenital Myopathy 14	Knee flexion contracture, Increased variability in muscle fiber diameter, Generalized muscle weak...	OMIM:618414
Inclusion Body Myopathy And Brain White Matter Abnormalities	Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Centrally n...	OMIM:619733
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Halothane Hepatitis	Eosinophilia	OMIM:234350
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3	Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscl...	OMIM:615424
Kimura Disease	Eosinophilia	ORPHA:482
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Decreased circulating free...	ORPHA:276575
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Leu...	OMIM:155100
Distal Myopathy, Tateyama Type	Increased variability in muscle fiber diameter, Progressive distal muscle weakness, Weakness of t...	ORPHA:488650
Spinal Muscular Atrophy, Infantile, James Type	Increased variability in muscle fiber diameter, Hip contracture, Lower limb muscle weakness, Type...	OMIM:619042
Congenital Myopathy 8	Increased variability in muscle fiber diameter, Proximal muscle weakness, Muscle fiber atrophy, O...	OMIM:618654
Immunodeficiency 103, Susceptibility To Fungal Infections	Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell...	OMIM:212050
Generalized Eruptive Histiocytosis	Hypereosinophilia, Histiocytosis, Leukemia	ORPHA:157991
Nemaline Myopathy 2	Muscle fiber splitting, Flexion contracture, Proximal muscle weakness, Nemaline bodies, Slender b...	OMIM:256030
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7	Increased variability in muscle fiber diameter, Distal lower limb amyotrophy, Calf muscle hypertr...	OMIM:601954
Lipodystrophy, Familial Partial, Type 2	Hypercholesterolemia, Increased facial adipose tissue, Hyperinsulinemia, Reduced subcutaneous adi...	OMIM:151660
Lipodystrophy, Familial Partial, Type 5	Increased C-peptide level, Diabetic ketoacidosis, Lipodystrophy, Decreased serum leptin, Decrease...	OMIM:615238
Myopathy, Distal, 7, Adult-Onset, X-Linked	Distal upper limb muscle weakness, Increased variability in muscle fiber diameter, Fatty replacem...	OMIM:301075
Tubular Aggregate Myopathy	Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Fatig...	ORPHA:2593
Glycogen Storage Disease Ixd	Lower limb muscle weakness, Glycogen accumulation in muscle fiber lysosomes, Pelvic girdle muscle...	OMIM:300559
Mandibuloacral Dysplasia	Hypercholesterolemia, Hyperinsulinemia, Contractures of the large joints, Increased circulating f...	ORPHA:2457
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Flexion contracture,...	OMIM:608099
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	Muscle fiber splitting, Back pain, Increased variability in muscle fiber diameter, Proximal muscl...	OMIM:618129
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Muscle fiber splitting, Increased variability in muscle fiber diameter, Proximal muscle weakness,...	OMIM:253601
Obesity Due To Prohormone Convertase I Deficiency	Hyperinsulinemia, Increased adipose tissue, Gonadotropin deficiency, Decreased response to growth...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Hyperinsulinemia, Increased adipose tissue, Gonadotropin deficiency, Decreased response to growth...	ORPHA:71526
Isolated Growth Hormone Deficiency, Type Ia	Hypoglycemia, Reduced circulating growth hormone concentration, Decreased serum insulin-like grow...	OMIM:262400
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Increased variability in muscle fiber diameter, Proximal muscle weakness, Gowers sign, Elevated h...	OMIM:612937
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Increased variability in muscle fiber diameter, Flexion contracture, Proximal muscle weakness, Mu...	OMIM:300717
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Hyperinsulinemic hypoglycemia, Dorsocervical fat pad, Diabetes mellitus, Delayed puberty, Delayed...	OMIM:616033
Congenital Myopathy 6 With Ophthalmoplegia	Increased variability in muscle fiber diameter, Generalized muscle weakness, Proximal muscle weak...	OMIM:605637
Spinal Muscular Atrophy, Type Iv	Increased variability in muscle fiber diameter, Proximal muscle weakness, Centrally nucleated ske...	OMIM:271150
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency	Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Gowers sign...	OMIM:613204
Nonaka Myopathy	Deposits immunoreactive to beta-amyloid protein, EMG: myopathic abnormalities, Distal muscle weak...	OMIM:605820
Glucocorticoid Deficiency 3	Recurrent hypoglycemia	OMIM:609197
Tibial Muscular Dystrophy	Distal upper limb muscle weakness, Increased variability in muscle fiber diameter, Peroneal muscl...	ORPHA:609
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	Muscle fiber splitting, Increased variability in muscle fiber diameter, Proximal muscle weakness,...	OMIM:617760
Distal Myopathy With Anterior Tibial Onset	Tibialis muscle weakness, Limb-girdle muscle weakness, Progressive proximal muscle weakness, Weak...	ORPHA:178400
Myopathy, X-Linked, With Postural Muscle Atrophy	Increased variability in muscle fiber diameter, Back pain, Proximal muscle weakness, Achilles ten...	OMIM:300696
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Wrist flexion contracture, Muscle fiber splitting, Flexion contracture, Quadriceps muscle atrophy...	ORPHA:206549
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia	Increased variability in muscle fiber diameter, Generalized muscle weakness, Centrally nucleated ...	OMIM:117000
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone	Hypoglycemia	OMIM:223500
Severe Neurodegenerative Syndrome With Lipodystrophy	Hyperinsulinemia, Reduced intraabdominal adipose tissue, Reduced subcutaneous adipose tissue, Ins...	ORPHA:363400
Obesity Due To Congenital Leptin Deficiency	Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ...	ORPHA:66628
Myasthenic Syndrome, Congenital, 2A, Slow-Channel	Knee flexion contracture, Muscle fiber splitting, Increased variability in muscle fiber diameter,...	OMIM:616313
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hyperinsulinemia, Precocious puberty, Diabetic ketoacidosis, Hypoglycemia, Postprandial hyperglyc...	OMIM:262190
Hypertriglyceridemia 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia	OMIM:619324
Bleeding Disorder, Platelet-Type, 21	Thrombocytopenia, Impaired ADP-induced platelet aggregation, Increased mean platelet volume, Impa...	OMIM:617443
Hyperinsulinism Due To Ucp2 Deficiency	Hypoketotic hypoglycemia, Increased C-peptide level, Decreased circulating free fatty acid level,...	ORPHA:276556
Myopathy, Distal, Tateyama Type	Increased variability in muscle fiber diameter, Neck flexor weakness, Centrally nucleated skeleta...	OMIM:614321
Pituitary Hormone Deficiency, Combined, 4	Adrenal insufficiency, Hypothyroidism, Hypoglycemia, Impaired growth-hormone response to insulin ...	OMIM:262700
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoglycemia, Sudden death	OMIM:609016
Esophagitis, Eosinophilic, 1	Eosinophilia	OMIM:610247
Esophagitis, Eosinophilic, 2	Eosinophilia	OMIM:613412
Myopathy, Scapulohumeroperoneal	Increased variability in muscle fiber diameter, Neck flexor weakness, Wrist drop, Centrally nucle...	OMIM:616852
Obesity Due To Leptin Receptor Gene Deficiency	Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ...	ORPHA:179494
Pparg-Related Familial Partial Lipodystrophy	Hyperuricemia, Maternal diabetes, Insulin resistance, Abnormality of skeletal muscle fiber size, ...	ORPHA:79083
Myopathy, Tubular Aggregate, 1	Increased variability in muscle fiber diameter, Flexion contracture, Proximal muscle weakness, Ex...	OMIM:160565
Fructose And Galactose Intolerance	Hypoglycemia	OMIM:229500
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Muscle fiber splitting, Increased variability in muscle fiber diameter, Neck flexor weakness, Pro...	OMIM:603689
Bethlem Myopathy 2	Increased variability in muscle fiber diameter, Flexion contracture, Proximal muscle weakness, Mu...	OMIM:616471
Atherosclerosis Susceptibility	Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:108725
Transient Neonatal Diabetes Mellitus	Hypothyroidism, Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Maternal diabetes, M...	ORPHA:99886
Familial Partial Lipodystrophy, Dunnigan Type	Cellulitis, Abnormality of skeletal muscle fiber size, Insulin resistance, Myalgia, Lipodystrophy...	ORPHA:2348
Thrombocytopenia 7	Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation...	OMIM:619130
Bernard-Soulier Syndrome	Thrombocytopenia, Macrothrombocytopenia, Impaired ristocetin-induced platelet aggregation, Giant ...	OMIM:231200
Insulinoma	Hyperinsulinemia, Nonketotic hypoglycemia, Abnormality of the pancreatic islet cells, Neuroendocr...	ORPHA:97279
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Distal upper limb muscle weakness, Increased variability in muscle fiber diameter, Proximal muscl...	OMIM:620138
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation	OMIM:124900
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young	OMIM:613370
Slc35A1-Cdg	Thrombocytopenia, Neutropenia, Abnormal platelet granules, Giant platelets	ORPHA:238459
Familial Renal Glucosuria	Glycosuria, Insulin resistance, Elevated hemoglobin A1c, Hyperglycemia, Abnormal oral glucose tol...	ORPHA:69076
Body Mass Index Quantitative Trait Locus 20	Hyperinsulinemia	OMIM:618406
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Proximal mu...	OMIM:608807
Congenital Generalized Lipodystrophy	Precocious puberty in females, Hyperinsulinemia, Increased C-peptide level, Insulin resistance, A...	ORPHA:528
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Knee flexion contracture, Distal upper limb muscle weakness, Increased variability in muscle fibe...	OMIM:619566
Immunodeficiency 32B	Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Impaired oxidative burst, Thrombocytopenia, Sp...	OMIM:226990
Glycogen Storage Disease 0, Liver	Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia	OMIM:240600
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Insulin resistance, Male hypogonadism, Diabetes mellitus, Lipodystrophy, Loss of subcutaneous adi...	OMIM:615381
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Generalized amyotrophy, Muscular dystrophy, Elbow flexion contracture, Elevated circulating creat...	OMIM:616516
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Increased C-peptide level, Multiple pancreatic beta-cell adenomas, Increased circulating cortisol...	ORPHA:79644
Myasthenic Syndrome, Congenital, 14	Knee flexion contracture, Increased variability in muscle fiber diameter, Limb-girdle muscle weak...	OMIM:616228
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Increased variability in muscle fiber diameter, Proximal muscle weakness, Gowers sign, Muscular d...	OMIM:613157
Adult-Onset Nemaline Myopathy	Increased variability in muscle fiber diameter, Neck flexor weakness, Flexion contracture, Lower ...	ORPHA:171442
Cardiomyopathy, Dilated, 1X	Calf muscle hypertrophy, Increased variability in muscle fiber diameter, Proximal muscle weakness...	OMIM:611615
Primary Lipodystrophy	Type II diabetes mellitus, Insulin resistance, Myalgia, Lipodystrophy, Myopathy, Skeletal muscle ...	ORPHA:90970
Autoimmune Lymphoproliferative Syndrome	Coombs-positive hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Increased...	OMIM:601859
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism	OMIM:307500
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1	Increased variability in muscle fiber diameter, Generalized muscle weakness, Fatty replacement of...	ORPHA:34516
Myh9-Related Disease	Congenital thrombocytopenia, Neutrophil inclusion bodies, Increased mean platelet volume, Giant p...	ORPHA:182050
Obesity Due To Sim1 Deficiency	Increased resting energy expenditure, Hyperinsulinemia, Obesity, Glucose intolerance	ORPHA:369873
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Increased variability in muscle fiber diameter, Flexion contracture, Proximal muscle weakness, Mu...	OMIM:300718
Mody	Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, Abnormal circulating ins...	ORPHA:552
Zebra Body Myopathy	Muscle fiber splitting, Proximal muscle weakness, Gowers sign, Autophagic vacuoles, Torticollis, ...	ORPHA:97240
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hypoglycemia, Impaired gluconeogenesis	OMIM:261650
Bleeding Disorder, Platelet-Type, 19	Anemia, Thrombocytopenia, Macrothrombocytopenia	OMIM:616176
Oculopharyngodistal Myopathy 3	Increased variability in muscle fiber diameter, Ophthalmoplegia, Generalized amyotrophy, Internal...	OMIM:619473
Wiskott-Aldrich Syndrome	Absent microvilli on the surface of peripheral blood lymphocytes, Decreased proportion of CD8-pos...	OMIM:301000
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Hypoketotic hypoglycemia, Increased circulating free fatty acid level, Nonketotic hypoglycemia, N...	ORPHA:293964
Lipodystrophy, Congenital Generalized, Type 4	Increased variability in muscle fiber diameter, Hyperinsulinemia, Generalized muscle weakness, Pr...	OMIM:613327
Glycerol Kinase Deficiency	Muscular dystrophy, Adrenal insufficiency, Adrenocortical hypoplasia, Hypoglycemia, Myopathy, Hyp...	OMIM:307030
Abdominal Obesity-Metabolic Syndrome 4	Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL cholesterol con...	OMIM:618620
Wells Syndrome	Eosinophilia	ORPHA:901
Hyperinsulinism Due To Hnf4A Deficiency	Hypoketotic hypoglycemia, Hyperinsulinemia, Glycosuria, Neonatal hypoglycemia, Hyperinsulinemic h...	ORPHA:263455
Fish-Eye Disease	Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypertriglyceri...	OMIM:136120
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Lymphocytosis, Thrombocytopenia, Decreased mean platelet volume	OMIM:617718
Insulin-Resistance Syndrome Type B	Hyperinsulinemia, Abnormal circulating lipid concentration, Increased serum testosterone level, F...	ORPHA:2298
Retinitis Pigmentosa	Atypical scarring of skin, Hyperinsulinemia, Hypogonadism, Type II diabetes mellitus	ORPHA:791
Congenital Myopathy 3 With Rigid Spine	Increased variability in muscle fiber diameter, Generalized muscle weakness, Neck flexor weakness...	OMIM:602771
Acquired Generalized Lipodystrophy	Hyperinsulinemia, Abnormal circulating lipid concentration, Insulin resistance, Calf muscle pseud...	ORPHA:79086
Estrogen Resistance	Increased serum estradiol, Hyperinsulinemia, Impaired glucose tolerance, Delayed puberty, Glucose...	OMIM:615363
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Proximal muscle weak...	ORPHA:86812
Childhood-Onset Nemaline Myopathy	Fatigable weakness of bulbar muscles, Increased variability in muscle fiber diameter, Flexion con...	ORPHA:171439
Polyendocrine-Polyneuropathy Syndrome	Central hypothyroidism, Hypoglycemia, Hypogonadism	OMIM:616113
Congenital Myopathy 10A, Severe Variant	Camptodactyly of finger, Increased variability in muscle fiber diameter, Diaphragmatic eventratio...	OMIM:614399
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc	Muscle fiber splitting, Increased variability in muscle fiber diameter, Proximal muscle weakness,...	OMIM:616924
Mandibuloacral Dysplasia With Type B Lipodystrophy	Hyperinsulinemia, Flexion contracture, Hyperglycemia, Decreased adipose tissue around neck, Gener...	OMIM:608612
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Elevated circulating growth hormone concentration, Insulin resistance, Insulin-resistant diabetes...	ORPHA:90301
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Increased facial adipose tissue, Minimal subcutaneous fat, Reduced subcutaneous adipose tissue, I...	ORPHA:280365
Congenital Myopathy 1B, Autosomal Recessive	Increased variability in muscle fiber diameter, Generalized muscle weakness, Type 1 and type 2 mu...	OMIM:255320
Proximal Myopathy With Extrapyramidal Signs	Increased variability in muscle fiber diameter, Proximal muscle weakness, Centrally nucleated ske...	ORPHA:401768
Bdv Syndrome	Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hyperin...	OMIM:619326
Hypercholesterolemia, Familial, 4	Hypertriglyceridemia, Decreased LDL cholesterol concentration, Tendon xanthomatosis, Hypercholest...	OMIM:603813
Short Stature, Dauber-Argente Type	Fasting hyperinsulinemia, Increased insulin like growth factor binding protein acid labile subuni...	OMIM:619489
Immunodeficiency 11B With Atopic Dermatitis	Eosinophilia	OMIM:617638
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia	OMIM:144300
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Decreased body weight, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Myopath...	OMIM:300580
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Increased variability in muscle fiber diameter, Neck flexor weakness, Calf muscle hypertrophy, Go...	OMIM:618138
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Stomatocytosis, Splenomegaly, Impaired collagen-related peptide-induced platelet aggregation, Hem...	OMIM:153670
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Type II diabetes mellitus, Hyperinsulinemia, Hypergonadotropic hypogonadism, Keloids	ORPHA:3085
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Generalized muscle weakness, Neck flexor weakness, Centrally nucleated skeletal muscle fibers, Sc...	OMIM:608358
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased variability in muscle fiber diameter, Elevated circulating alanine aminotransferase con...	OMIM:613752
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Poikilocytosis, Anisocytosis, Hypochromic anemia, Macrothrombocytopenia, Anemia of inadequate pro...	ORPHA:67044
Congenital Muscular Dystrophy, Ullrich Type	Knee flexion contracture, Increased variability in muscle fiber diameter, Generalized muscle weak...	ORPHA:75840
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2	Centrally nucleated skeletal muscle fibers, Autophagic vacuoles, Muscular dystrophy, Joint contra...	OMIM:608423
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Increased variability in muscle fiber diameter, Proximal muscle weakness, Centrally nucleated ske...	OMIM:612999
Myopathy, Myofibrillar, 2	Muscle fiber splitting, Limb-girdle muscle weakness, Late-onset proximal muscle weakness, Lower l...	OMIM:608810
Bangstad Syndrome	Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Increased circulating cortisol l...	ORPHA:1227
Mitochondrial Myopathy, Infantile, Transient	Macroglossia, Neck muscle weakness, Failure to thrive, Muscle weakness, Hepatomegaly, Increased m...	OMIM:500009
Galactokinase Deficiency	Hyperinsulinemia, Hypergalactosemia, Increased level of galactitol in plasma, Hypoglycemia, Hyper...	ORPHA:79237
Congenital Myopathy 4A, Autosomal Dominant	Generalized muscle weakness, Proximal muscle weakness, Centrally nucleated skeletal muscle fibers...	OMIM:255310
Immunodeficiency 97 With Autoinflammation	Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ...	OMIM:619802
Abdominal Obesity-Metabolic Syndrome 3	Type II diabetes mellitus, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypergl...	OMIM:615812
X-Linked Sideroblastic Anemia	Abnormality of iron homeostasis, Glucose intolerance, Fatigue	ORPHA:75563
Eosinophilic Fasciitis	Abnormal eosinophil morphology, Eosinophilia	ORPHA:3165
Autoimmune Lymphoproliferative Syndrome, Type Iia	Increased B cell count, Coombs-positive hemolytic anemia, Neutropenia in presence of anti-neutrop...	OMIM:603909
Multiminicore Myopathy	External ophthalmoplegia, Congenital muscular dystrophy, Abnormal muscle fiber morphology, Failur...	ORPHA:598
Glycogen Storage Disease Ixc	Fasting hypoglycemia, Hypoglycemia, Hypertriglyceridemia	OMIM:613027
Hemochromatosis, Type 4	Impaired glucose tolerance, Elevated transferrin saturation, Arthralgia, Diabetes mellitus, Incre...	OMIM:606069
Congenital Multicore Myopathy With External Ophthalmoplegia	Increased variability in muscle fiber diameter, Flexion contracture, Proximal muscle weakness, Ex...	ORPHA:98905
Cinca Syndrome	Leukocytosis, Anemia, Eosinophilia, Hepatosplenomegaly	OMIM:607115
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Increased variability in muscle fiber diameter, Multiple joint contractures, Centrally nucleated ...	ORPHA:486815
Vacuolar Neuromyopathy	Muscle fiber splitting, Neck flexor weakness, Centrally nucleated skeletal muscle fibers, Muscula...	OMIM:601846
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	T lymphocytopenia, Lymphocytosis, Decreased proportion of CD3-positive T cells, Decreased proport...	ORPHA:169154
Congenital Myopathy 5 With Cardiomyopathy	Sudden cardiac death, Increased variability in muscle fiber diameter, Generalized muscle weakness...	OMIM:611705
Oculopharyngodistal Myopathy 4	Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, External op...	OMIM:619790
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Sudden cardiac death, Back pain, Absent muscle fiber emerin, Elbow flexion contracture, Achilles ...	ORPHA:98855
Neonatal Hemochromatosis	Hypoglycemia, Increased circulating ferritin concentration, Increased serum iron	ORPHA:446
Immunodeficiency 7	Hypereosinophilia, Autoimmune hemolytic anemia, Neutropenia, Splenomegaly	OMIM:615387
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Muscle fiber splitting, Increased variability in muscle fiber diameter, Flexion contracture, Gowe...	OMIM:253700
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Increased variability in muscle fiber diameter, Proximal muscle weakness, Muscular dystrophy, Ske...	OMIM:614302
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Eosinophilia	OMIM:253600
Familial Multiple Lipomatosis	Lipodystrophy, Insulin resistance, Increased adipose tissue, Hyperlipidemia	ORPHA:199276
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Increased variability in muscle fiber diameter, Neck flexor weakness, Calf muscle hypertrophy, Go...	ORPHA:353
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Camptodactyly of finger, Increased variability in muscle fiber diameter, Interosseus muscle atrop...	OMIM:617072
Severe X-Linked Mitochondrial Encephalomyopathy	Increased variability in muscle fiber diameter, Generalized muscle weakness, Skeletal muscle atrophy	ORPHA:238329
Myopathy, Myofibrillar, 7	Urinary incontinence, Increased variability in muscle fiber diameter, Flexion contracture, Z-band...	OMIM:617114
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities	Abnormally low T cell receptor excision circle level, Eosinophilia	OMIM:618092
Proteasome-Associated Autoinflammatory Syndrome 5	Hypertriglyceridemia	OMIM:619175
Mandibuloacral Dysplasia With Type A Lipodystrophy	Hypercholesterolemia, Increased facial adipose tissue, Flexion contracture, Hyperinsulinemia, Imp...	OMIM:248370
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy	Tibialis muscle weakness, Muscle fiber splitting, Increased variability in muscle fiber diameter,...	ORPHA:437572
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Increased variability in muscle fiber diameter, Flexion contracture, Proximal muscle weakness, Ce...	OMIM:618484
Trim32-Related Limb-Girdle Muscular Dystrophy R8	Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Myopathy	ORPHA:1878
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hypoglycemia, Hyperuricemia, Hyperlipidemia	ORPHA:364
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1	Muscle fiber splitting, Flexion contracture, Gowers sign, Muscular dystrophy, Pelvic girdle muscl...	OMIM:603511
Estrogen Resistance Syndrome	Episodic abdominal pain, Hyperinsulinemia, Absence of secondary sex characteristics, Abnormal cir...	ORPHA:785
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Increased variability in muscle fiber diameter, Lower limb muscle weakness, Type 1 muscle fiber p...	OMIM:613954
Omenn Syndrome	Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Eosinophilia, Thro...	OMIM:603554
Dopamine Beta-Hydroxylase Deficiency	Hyperinsulinemia, Insulin resistance, Increased blood urea nitrogen, Hypoglycemia, Elevated circu...	ORPHA:230
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anemia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytop...	OMIM:304790
Perlman Syndrome	Inguinal hernia, Hyperinsulinemia, Femoral hernia	ORPHA:2849
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive	Eosinophilia	OMIM:618523
Temple Syndrome	Flexion contracture, Precocious puberty, Maturity-onset diabetes of the young, Hypercholesterolem...	OMIM:616222
X-Linked Emery-Dreifuss Muscular Dystrophy	Sudden cardiac death, Back pain, Absent muscle fiber emerin, Elbow flexion contracture, Achilles ...	ORPHA:98863
Emery-Dreifuss Muscular Dystrophy	Sudden cardiac death, Back pain, Absent muscle fiber emerin, Elbow flexion contracture, Achilles ...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Sudden cardiac death, Back pain, Absent muscle fiber emerin, Elbow flexion contracture, Achilles ...	ORPHA:98853
Seckel Syndrome 10	Impaired glucose tolerance, Glycosuria, Insulin resistance, Diabetes mellitus, Elevated circulati...	OMIM:617253
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia, Monocytosis, Apl...	ORPHA:486
Laing Early-Onset Distal Myopathy	Toe extensor amyotrophy, Weakness of orbicularis oculi muscle, Abnormal mitochondria in muscle ti...	ORPHA:59135
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant	Cutaneous abscess, Eosinophilia	OMIM:147060
Glucocorticoid Resistance, Generalized	Increased serum testosterone level, Increased circulating cortisol level, Increased circulating A...	OMIM:615962
Glucocorticoid Deficiency 2	Increased circulating ACTH level, Decreased circulating cortisol level, Recurrent hypoglycemia	OMIM:607398
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hypoglycemia	OMIM:615158
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Proximal muscle weak...	OMIM:616812
Short Fifth Metacarpals-Insulin Resistance Syndrome	Hyperinsulinemia	ORPHA:66518
Niemann-Pick Disease, Type B	Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr...	OMIM:607616
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Limb-girdle muscle weakness, Rhabdomyolysis, Ketotic hypoglycemia, Elevated circulating creatine ...	ORPHA:79240
Peeling Skin Syndrome 1	Eosinophilia	OMIM:270300
Donohue Syndrome	Hyperinsulinemia, Precocious puberty, Adipose tissue loss, Postprandial hyperglycemia, Skeletal m...	OMIM:246200
Glycosylphosphatidylinositol Biosynthesis Defect 17	Hypertriglyceridemia	OMIM:618010
Hereditary Folate Malabsorption	Thrombocytopenia, Megaloblastic anemia, Pancytopenia, Eosinophilia	ORPHA:90045
Immunodeficiency 25	Autoimmune hemolytic anemia, T lymphocytopenia, Eosinophilia	OMIM:610163
Myopathy, Centronuclear, 1	Flexion contracture, Proximal muscle weakness, External ophthalmoplegia, Centrally nucleated skel...	OMIM:160150
Diabetes Mellitus, Transient Neonatal, 3	Transient neonatal diabetes mellitus, Maternal diabetes, Elevated hemoglobin A1c, Reduced C-pepti...	OMIM:610582
Glycogen Storage Disease Iii	Elevated circulating creatine kinase concentration, Hypoglycemia, Myopathy, Hyperlipidemia, Dista...	OMIM:232400
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, Splenomegal...	OMIM:612690
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal natural killer cell count, Abnormal B cell count, Hepatosplenomegaly, Lymphopenia, Autoi...	ORPHA:331206
Myopathic Ehlers-Danlos Syndrome	Knee flexion contracture, Increased variability in muscle fiber diameter, Generalized muscle weak...	ORPHA:536516
Idiopathic Acute Eosinophilic Pneumonia	Abnormal eosinophil morphology	ORPHA:724
3-Methylcrotonyl-Coa Carboxylase Deficiency	Hypoglycemia, Hyperammonemia, Abnormal circulating leucine concentration	ORPHA:6
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperglycemia, Proximal amyotrophy, Hyperlipidemia, Mildly elevated creatine kinase	OMIM:604484
Pelger-Huet Anomaly	Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant platelets, Thrombocytope...	OMIM:169400
Cerebrooculofacioskeletal Syndrome 1	Knee flexion contracture, Flexion contracture, Joint contracture of the hand, Small for gestation...	OMIM:214150
Systemic Mastocytosis With Associated Hematologic Neoplasm	Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C...	ORPHA:98849
Hypokalemic Periodic Paralysis	Late-onset proximal muscle weakness, Fatigable weakness of respiratory muscles, Respiratory paral...	ORPHA:681
Cholesterol-Ester Transfer Protein Deficiency	Tendon xanthomatosis, Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidem...	ORPHA:79506
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Elevated circulating thyroid-stimulating hormone concentration, Type II diabetes mellitus, Increa...	OMIM:274300
Rabson-Mendenhall Syndrome	Hypothyroidism, Increased C-peptide level, Precocious puberty, Increased serum testosterone level...	ORPHA:769
Short Syndrome	Insulin resistance, Inguinal hernia, Lipodystrophy, Insulin-resistant diabetes mellitus, Hypergly...	OMIM:269880
Eosinophilic Gastroenteritis	Leukocytosis, Anemia, Eosinophilia	ORPHA:2070
Fanconi-Bickel Syndrome	Impaired glucose tolerance, Glycosuria, Hypophosphatemia, Diabetes mellitus, Postprandial hypergl...	ORPHA:2088
Placental Insufficiency	Insulin resistance	ORPHA:439167
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Hypoketotic hypoglycemia, Increased C-peptide level, Increased circulating free fatty acid level,...	ORPHA:71212
O'Sullivan-Mcleod Syndrome	Eosinophilia	ORPHA:99965
Congenital Isolated Acth Deficiency	Decreased circulating cortisol level, Hyperkalemia, Neonatal hypoglycemia, Adrenocorticotropin de...	ORPHA:199296
Whipple Disease	Hypothyroidism, Abdominal pain, Cachexia, Insulin resistance, Arthralgia, Myalgia, Muscle weaknes...	ORPHA:3452
Nephrotic Syndrome, Type 14	Hypothyroidism, Hypogonadism, Adrenal insufficiency, Hypoglycemia, Hypertriglyceridemia, Hypoalbu...	OMIM:617575
Congenital Myopathy 15	Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Camptodacty...	OMIM:620161
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilia, Hepatosplenomegaly	OMIM:618999
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Glycosuria, Hyperlipidemia, Postprandial hyperglycemia, Ketotic hypoglycemia	ORPHA:2089
Immunodeficiency 49	T lymphocytopenia, Decreased proportion of naive CD4 T cells, Lymphopenia, Abnormally low T cell ...	OMIM:617237
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency	Limb-girdle muscle weakness, Increased sarcoplasmic glycogen, Rhabdomyolysis, Elevated circulatin...	ORPHA:370
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hypertriglyceridemia	OMIM:615924
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Hypoglycemia, Neonatal hyperbilirubinemia, Insulin resistance, Hypogonadism	ORPHA:73272
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Oculopharyngeal Muscular Dystrophy	Ophthalmoplegia, Abnormal muscle fiber morphology, Ragged-red muscle fibers, Myopathy, Rimmed vac...	ORPHA:270
Omenn Syndrome	Anemia, Leukocytosis, Eosinophilia, Splenomegaly, Abnormal lymphocyte morphology	ORPHA:39041
Polyendocrine-Polyneuropathy Syndrome	Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Anterio...	ORPHA:453533
Carnitine Palmitoyl Transferase 1A Deficiency	Sudden cardiac death, Transient hyperlipidemia, Hypoglycemia, Skeletal muscle atrophy, Fatigue	ORPHA:156
Hepatitis, Fulminant Viral, Susceptibility To	Hepatic failure, Fulminant hepatitis, Jaundice, Elevated hepatic transaminase, Type I diabetes me...	OMIM:618549
Lipodystrophy, Congenital Generalized, Type 1	Hyperinsulinemia, Reduced intraabdominal adipose tissue, Insulin-resistant diabetes mellitus at p...	OMIM:608594
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased proportion of CD3-positive T cells, Lymphopenia, Eosinophilia, Hepatosplenomegaly	ORPHA:169160
Dysbetalipoproteinemia	Hypercholesterolemia, Hypothyroidism, Tendon xanthomatosis, Diabetes mellitus, Increased LDL chol...	ORPHA:412
Sitosterolemia 1	Stomatocytosis, Anemia, Reticulocytosis, Impaired platelet aggregation, Episodic hemolytic anemia...	OMIM:210250
Roifman Syndrome	Splenomegaly, Eosinophilia	OMIM:616651
Ullrich Congenital Muscular Dystrophy 1	Increased variability in muscle fiber diameter, Flexion contracture, Proximal muscle weakness, Ge...	OMIM:254090
X-Linked Centronuclear Myopathy	Fatigable weakness of bulbar muscles, Centrally nucleated skeletal muscle fibers, Type 1 fibers r...	ORPHA:596
Roifman Syndrome	Eosinophilia, Hepatosplenomegaly	ORPHA:353298
Combined Oxidative Phosphorylation Deficiency 8	Failure to thrive, Generalized muscle weakness, Increased variability in muscle fiber diameter	OMIM:614096
Combined Oxidative Phosphorylation Deficiency 36	Hyperalaninemia, Lower limb muscle weakness, Myalgia, Hypoglycemia, Exercise intolerance	OMIM:617950
Mpi-Cdg	Hypothyroidism, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Failure to thrive, Hepatomegaly,...	ORPHA:79319
Typical Nemaline Myopathy	Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Neck flexor weakness...	ORPHA:171436
Cardiomyopathy, Dilated, 3B	Increased variability in muscle fiber diameter	OMIM:302045
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Insulin resistance, Delayed puberty, Generalized lipodystrophy, Hyperlipidemia	ORPHA:90154
Pituitary Hormone Deficiency, Combined, 2	Hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hypogonadism, A...	OMIM:262600
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Proximal muscle weakness, Hypogonadism, Progressive external ophthalmoplegia, EMG: myopathic abno...	OMIM:609286
Bethlem Myopathy	Camptodactyly of finger, Wrist flexion contracture, Limb-girdle muscle weakness, Flexion contract...	ORPHA:610
Lecithin:Cholesterol Acyltransferase Deficiency	Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:245900
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Increased sarcoplasmic glycogen, Elevated circulating creatine kinase concentration, Myalgia, Hyp...	ORPHA:264580
Multiple Endocrine Neoplasia Type 4	Pituitary corticotropic cell adenoma, Parathyroid adenoma, Hyperinsulinemic hypoglycemia, Pituita...	ORPHA:276152
Propionic Acidemia	Hypoglycemia, Hyperammonemia	ORPHA:35
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Increased variability in muscle fiber diameter, Hip pain, Fatty replacement of skeletal muscle, P...	ORPHA:52430
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Hyperalaninemia, Elevated circulating sebacic acid concentration, Elevated circulating suberic ac...	OMIM:615160
Pituitary Hormone Deficiency, Combined, 6	Decreased circulating follicle stimulating hormone concentration, Decreased circulating ACTH leve...	OMIM:613986
Riboflavin Deficiency	Hypoglycemia, Elevated circulating acylcarnitine concentration	OMIM:615026
Alstrom Syndrome	Hypothyroidism, Hyperinsulinemia, Hyperuricemia, Diabetes insipidus, Decreased response to growth...	OMIM:203800
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphocytosis, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Hepatos...	ORPHA:911
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT...	OMIM:615954
Myopathy, Myofibrillar, 4	Muscle fiber splitting, Myofibrillar myopathy, Autophagic vacuoles, Progressive distal muscle wea...	OMIM:609452
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive	Reduced natural killer cell count, Eosinophilia, Decreased proportion of CD4-positive helper T cells	OMIM:243700
Short Syndrome	Insulin resistance, Lipodystrophy, Inguinal hernia, Diabetes mellitus, Abnormal dental enamel mor...	ORPHA:3163
Lipodystrophy, Congenital Generalized, Type 2	Hyperinsulinemia, Reduced intraabdominal adipose tissue, Insulin-resistant diabetes mellitus at p...	OMIM:269700
Werner Syndrome	Hypogonadism, Low back pain, Diabetes mellitus, Elevated hemoglobin A1c, Hypertriglyceridemia	OMIM:277700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15	Increased variability in muscle fiber diameter, Myopathy, Centrally nucleated skeletal muscle fibers	OMIM:618992
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Precocious puberty, Increased circulating ACTH level, Decreased circulating cortisol level, Hyper...	OMIM:614736
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Increased variability in muscle fiber diameter, Proximal muscle weakness, Muscle fiber atrophy, G...	OMIM:258450
Cap Myopathy	Increased variability in muscle fiber diameter, Lower limb muscle weakness, Gowers sign, Generali...	ORPHA:171881
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Increased variability in muscle fiber diameter, Failure to thrive in infancy, Increased intramyoc...	OMIM:619065
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive	Sterile abscess, Cutaneous abscess, Eosinophilia	OMIM:618282
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Increased variability in muscle fiber diameter, Flexion contracture, Spinal muscular atrophy, Mus...	OMIM:616867
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypothyroidism, Decreased muscle mass, Hypopituitarism, Exercise intolerance, Hypertriglyceridemi...	OMIM:619013
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Rhabdomyolysis, Elevated circulating creatine kinase concentration, Hypoglycemia, Exercise intole...	OMIM:618120
Hypertriglyceridemia, Transient Infantile	Hypertriglyceridemia	OMIM:614480
Hypotonia, Infantile, With Psychomotor Retardation	Increased variability in muscle fiber diameter, Myopathy, Respiratory insufficiency due to muscle...	OMIM:616816
Post-Traumatic Pituitary Deficiency	Decreased response to growth hormone stimulation test, Decreased circulating ACTH level, Panhypop...	ORPHA:95619
Cholesteryl Ester Storage Disease	Adrenal calcification, Hypertriglyceridemia, Hypercholesterolemia	ORPHA:75234
Congenital Disorder Of Glycosylation, Type Ib	Hepatic fibrosis, Cirrhosis, Hepatic failure, Hyperinsulinemic hypoglycemia, Steatorrhea, Failure...	OMIM:602579
Amyotrophic Lateral Sclerosis 21	Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Dista...	OMIM:606070
Glycogen Storage Disease Ixb	Increased muscle glycogen content, Hypoglycemia, Hyperuricemia	OMIM:261750
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia	OMIM:608898
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Delayed puberty, Hypoglycemia, Postexertional symptom exacerbation, Hyperlipidemia	ORPHA:369
Neutral Lipid Storage Myopathy	Gowers sign, Pineal cyst, Progressive distal muscle weakness, Elevated hepatic transaminase, Hepa...	ORPHA:98908
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Hypoglycemia, Hyperammonemia, Abdominal pain	OMIM:620137
Ornithine Transcarbamylase Deficiency	Hypoglycemia, Hyperammonemia	ORPHA:664
Steinert Myotonic Dystrophy	Proximal muscle weakness, Elevated hepatic transaminase, Secondary hyperparathyroidism, Facial di...	ORPHA:273
Combined Oxidative Phosphorylation Deficiency 34	Elevated circulating thyroid-stimulating hormone concentration, Primary adrenal insufficiency, In...	OMIM:617872
Myasthenic Syndrome, Congenital, 19	Increased variability in muscle fiber diameter, Proximal muscle weakness, Distal muscle weakness,...	OMIM:616720
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	B lymphocytopenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Aplasia of ...	OMIM:602450
Maturity-Onset Diabetes Of The Young, Type 14	Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young	OMIM:616511
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Proximal mu...	ORPHA:397744
Mandibuloacral Dysplasia With Type A Lipodystrophy	Flexion contracture, Insulin resistance, Hyperlipidemia, Arthralgia	ORPHA:90153
Solitary Fibrous Tumor/Hemangiopericytoma	Night sweats, Low back pain, Hypoglycemia, Hypophosphatemic rickets, Recurrent hypoglycemia, Hypo...	ORPHA:2126
Pgm3-Cdg	Leukopenia, Reduced natural killer cell count, T lymphocytopenia, Hemolytic anemia, Abnormal prop...	ORPHA:443811
Silver-Russell Syndrome	Decreased muscle mass, Precocious puberty, Cachexia, Insulin resistance, Arthralgia, Recurrent hy...	ORPHA:813
X-Linked Acrogigantism	Enlarged pituitary gland, Diabetes insipidus, Increased circulating prolactin concentration, Hypo...	ORPHA:300373
Blue Diaper Syndrome	Hyperphosphatemia, Elevated circulating thyroid-stimulating hormone concentration, Hypercalcemia,...	ORPHA:94086
Tangier Disease	Left ventricular hypertrophy, Facial diplegia, Decreased HDL cholesterol concentration, Decreased...	OMIM:205400
Idiopathic Chronic Eosinophilic Pneumonia	Hypereosinophilia, Leukocytosis	ORPHA:2902
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Increased circulating ferritin concentration	OMIM:603552
Familial Chylomicronemia Syndrome	Episodic abdominal pain, Diabetes mellitus, Hyperlipidemia, Increased circulating chylomicron con...	ORPHA:444490
Autoinflammation With Arthritis And Dyskeratosis	Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly	OMIM:617388
Hypoadrenocorticism, Familial	Adrenal insufficiency, Hyperkalemia, Hypoglycemia, Hyponatremia, Adrenal hypoplasia	OMIM:240200
Combined Oxidative Phosphorylation Deficiency 19	Increased variability in muscle fiber diameter, Elevated circulating alanine aminotransferase con...	OMIM:615595
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Increased variability in muscle fiber diameter, Neck flexor weakness, Rhabdomyolysis, Progressive...	OMIM:157640
Werner Syndrome	Hypogonadism, Thyroid carcinoma, Type II diabetes mellitus, Insulin resistance, Lipodystrophy, Sk...	ORPHA:902
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Gowers sign, Pelvic gird...	ORPHA:119
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Increased variability in muscle fiber diameter, Myopathy, Ophthalmoplegia	OMIM:125250
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
Aspergillosis	Neutropenia, Eosinophilia	ORPHA:1163
Infantile-Onset X-Linked Spinal Muscular Atrophy	Knee flexion contracture, Generalized muscle weakness, Proximal muscle weakness, Hip contracture,...	ORPHA:1145
Netherton Syndrome	Hypereosinophilia	OMIM:256500
Hyperlipoproteinemia, Type V	Decreased LDL cholesterol concentration, Increased VLDL cholesterol concentration, Diabetes melli...	OMIM:144650
Chronic Intestinal Pseudoobstruction	Abnormal platelet morphology	ORPHA:2978
Pyruvate Carboxylase Deficiency	Hypoglycemia, Hyperalaninemia, Increased serum pyruvate	OMIM:266150
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Orthostatic Hypotension 2	Hypoglycemia	OMIM:618182
Acth Deficiency, Isolated	Fasting hypoglycemia, Decreased circulating cortisol level, Adrenocorticotropic hormone deficienc...	OMIM:201400
Hemochromatosis, Neonatal	Hypoglycemia, Increased circulating ferritin concentration, Abnormality of iron homeostasis, Incr...	OMIM:231100
Ullrich Congenital Muscular Dystrophy 2	Increased variability in muscle fiber diameter, Congenital muscular dystrophy, Flexion contractur...	OMIM:616470
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Increased variability in muscle fiber diameter, Generalized muscle weakness, Proximal muscle weak...	OMIM:607459
Lymphoproliferative Syndrome, X-Linked, 2	Hypertriglyceridemia, Increased circulating ferritin concentration	OMIM:300635
Aromatase Deficiency	Type II diabetes mellitus, Insulin resistance, Hypergonadotropic hypogonadism, Hyperlipidemia, Bo...	ORPHA:91
Papular Xanthoma	Hyperlipidemia	ORPHA:158008
Bernard-Soulier Syndrome	Decreased platelet glycoprotein Ib-IX-V, Macrothrombocytopenia, Impaired ristocetin-induced plate...	ORPHA:274
Immunodeficiency 23	Hemolytic anemia, Lymphopenia, Eosinophilia, Neutropenia, Abscess	OMIM:615816
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Hypoglycemia, Generalized amyotrophy	OMIM:610006
Loeffler Endocarditis	Eosinophilia	ORPHA:75566
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology	ORPHA:1164
Myopathy With Lactic Acidosis, Hereditary	Increased variability in muscle fiber diameter, Rhabdomyolysis, Ophthalmoparesis, Increased intra...	OMIM:255125
Marbach-Rustad Progeroid Syndrome	Reduced subcutaneous adipose tissue, Insulin resistance	OMIM:619322
Lipodystrophy, Familial Partial, Type 7	Lower limb muscle weakness, Impaired glucose tolerance, Reduced subcutaneous adipose tissue, Decr...	OMIM:606721
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities	Increased variability in muscle fiber diameter, Flexion contracture, Failure to thrive in infancy...	OMIM:619026
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Increased circulating ferritin concentration	OMIM:613101
Short Stature, Microcephaly, And Endocrine Dysfunction	Hypothyroidism, Abnormal circulating lipid concentration, Insulin resistance, Inguinal hernia, Di...	OMIM:616541
Combined Oxidative Phosphorylation Deficiency 41	Hypoglycemia, Decreased circulating cortisol level, Elevated circulating creatine kinase concentr...	OMIM:618838
Cyclic Neutropenia	Perianal abscess, Decreased eosinophil count, Lymphopenia, Cyclic neutropenia, Thrombocytopenia, ...	ORPHA:2686
Iga Pemphigus	Cutaneous abscess, Eosinophilia	ORPHA:555905
Methanol Poisoning	Type II diabetes mellitus, Abdominal pain, Type I diabetes mellitus, Hyperlipidemia	ORPHA:31825
Igg4-Related Aortitis	Hypereosinophilia	ORPHA:449400
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Adrenogenital syndrome, Hypoglycemia, Adrenal hyperplasia	OMIM:201910
Bangstad Syndrome	Primary gonadal insufficiency, Goiter, Insulin-resistant diabetes mellitus	OMIM:210740
H Syndrome	Hernia, Hypogonadism, Camptodactyly, Lipodystrophy, Diabetes mellitus, Delayed puberty, Hypertrig...	ORPHA:168569
Gaisböck Syndrome	Hyperuricemia, Epigastric pain, Increased circulating renin level, Diabetes mellitus, Hypercholes...	ORPHA:90041
Leprechaunism	Central hypothyroidism, Hyperinsulinemia, Hyperaldosteronism, Reduced subcutaneous adipose tissue...	ORPHA:508
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Muscular dystrophy, Muscle fiber splitting, Increased variability in muscle fiber diameter, Mothe...	OMIM:226670
Xp21 Deletion Syndrome	Decreased muscle mass, Calf muscle hypertrophy, Adrenal insufficiency, Primary adrenal insufficie...	ORPHA:261476
Thalidomide Embryopathy	Insulin resistance	ORPHA:3312
Woodhouse-Sakati Syndrome	Hypothyroidism, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Decrease...	ORPHA:3464
Gitelman Syndrome	Parathyroid adenoma, Graves disease, Chondrocalcinosis, Glucose intolerance, Type II diabetes mel...	ORPHA:358
Autoimmune Lymphoproliferative Syndrome	Increased B cell count, Abnormal proportion of CD8-positive T cells, Coombs-positive hemolytic an...	ORPHA:3261
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration	ORPHA:140905
Smith-Magenis Syndrome	Hypertriglyceridemia, Abnormality of the thyroid gland, Hypercholesterolemia	OMIM:182290
Monosomy 13Q34	Insulin resistance, Hypercalcemia	ORPHA:96168
Creatine Phosphokinase, Elevated Serum	Muscular dystrophy, Abnormal muscle fiber morphology, EMG: myopathic abnormalities, Myalgia, Infl...	OMIM:123320
Citrullinemia Type Ii	Night sweats, Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholesterol concentration, Hyp...	ORPHA:247585
Hypobetalipoproteinemia, Familial, 1	Decreased LDL cholesterol concentration, Steatorrhea, Decreased HDL cholesterol concentration, Hy...	OMIM:615558
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia	Hyperaldosteronism, Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decre...	ORPHA:189427
Drug Reaction With Eosinophilia And Systemic Symptoms	Lymphocytosis, Eosinophilia	ORPHA:139402
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Lymphopenia, Eosinophilia	OMIM:617425
Primary Pigmented Nodular Adrenocortical Disease	Increased circulating cortisol level, Abnormal subcutaneous fat tissue distribution, Type II diab...	ORPHA:189439
Oculopharyngodistal Myopathy 1	Increased variability in muscle fiber diameter, Proximal muscle weakness, External ophthalmoplegi...	OMIM:164310
Cystic Echinococcosis	Splenic cyst, Abscess, Eosinophilia, Peritoneal abscess	ORPHA:400
Autosomal Dominant Hyper-Ige Syndrome	Eosinophilia	ORPHA:2314
Diarrhea 7, Protein-Losing Enteropathy Type	Abdominal colic, Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia	OMIM:615863
Citrullinemia, Type Ii, Neonatal-Onset	Hyperlysinemia, Hyperthreoninemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Decr...	OMIM:605814
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Increased variability in muscle fiber diameter	OMIM:617915
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Increased variability in muscle fiber diameter, Flexion contracture, Muscle fiber atrophy, Genera...	OMIM:616866
Proteasome-Associated Autoinflammatory Syndrome 3	Flexion contracture, Arthralgia, Myositis, Lipodystrophy, Panniculitis, Hypertriglyceridemia	OMIM:617591
Idiopathic Steroid-Resistant Nephrotic Syndrome	Abnormal circulating lipid concentration, Abdominal pain, Hypercholesterolemia, Hypertriglyceride...	ORPHA:567548
Myoclonus, Intractable, Neonatal	Increased variability in muscle fiber diameter	OMIM:617235
Atypical Werner Syndrome	Hyperinsulinemia, Abnormality of the Achilles tendon, Hypogonadism, Calf muscle hypertrophy, Glyc...	ORPHA:79474
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hypertriglyceridemia, Hyperbilirubinemia, Increased circulating ferritin concentration, Elevated ...	ORPHA:158057
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hypertriglyceridemia, Increased circulating ferritin concentration, Panniculitis	OMIM:618398
Protoporphyria, Erythropoietic, 1	Hypertriglyceridemia	OMIM:177000
Congenital Disorder Of Glycosylation, Type Iig	Thrombocytopenia, Anemia, Giant platelets	OMIM:611209
Glycogen Storage Disease Xii	Muscle fiber splitting, Elevated circulating alanine aminotransferase concentration, Increased va...	OMIM:611881
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Increased variability in muscle fiber diameter, Increased circulating prolactin concentration, Pr...	ORPHA:502423
Hemophagocytic Lymphohistiocytosis, Familial, 1	Increased total bilirubin, Increased VLDL cholesterol concentration, Increased LDL cholesterol co...	OMIM:267700
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Fasting hypoglycemia, Hypoglycemia, Impaired gluconeogenesis, Low plasma citrulline	OMIM:261680
Takenouchi-Kosaki Syndrome	Thrombocytopenia, Increased mean platelet volume	OMIM:616737
Bardet-Biedl Syndrome 1	Hepatic fibrosis, Hypogonadism, Insulin resistance, Left ventricular hypertrophy, Biliary tract a...	OMIM:209900
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Macrocytic anemia, Eosinophilia	ORPHA:199299
Chylomicron Retention Disease	Steatorrhea, EMG: myopathic abnormalities, Myopathy, Hypocholesterolemia, Hypertriglyceridemia	ORPHA:71
Infantile Liver Failure Syndrome 2	Hypoglycemia, Hyperammonemia	OMIM:616483
Multiple Endocrine Neoplasia, Type I	Increased circulating prolactin concentration, Parathyroid adenoma, Increased circulating cortiso...	OMIM:131100
Angiostrongyliasis	Hypereosinophilia	ORPHA:74
Classical-Like Ehlers-Danlos Syndrome Type 2	Widened atrophic scar, Ventral hernia, Cellulitis, Inguinal hernia, Diabetes mellitus, Hypertrigl...	ORPHA:536532
Immunodeficiency 89 And Autoimmunity	Hypochromic microcytic anemia, Decreased eosinophil count	OMIM:619632
Eosinophilic Granulomatosis With Polyangiitis	Eosinophilia	ORPHA:183
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hyperlysinemia, Abnormal circulating lipid concentration, Hyperthreoninemia, Hypergalactosemia, H...	ORPHA:247598
Bleeding Disorder, Platelet-Type, 17	Impaired epinephrine-induced platelet aggregation, Macrothrombocytopenia, Increased RBC distribut...	OMIM:187900
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive	Knee flexion contracture, Increased variability in muscle fiber diameter, Elbow flexion contractu...	OMIM:619461
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Hyperammonemia, Hyperargininemia, Elevated plasma citrulline	OMIM:603471
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Hypertriglyceridemia, Decreased HDL chole...	ORPHA:650
Proteasome-Associated Autoinflammatory Syndrome 1	Camptodactyly of finger, Flexion contracture, Elevated circulating thyroid-stimulating hormone co...	OMIM:256040
Lysosomal Acid Lipase Deficiency	Adrenal insufficiency, Steatorrhea, Increased LDL cholesterol concentration, Decreased HDL choles...	OMIM:278000
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Poor head control, Increased variability in muscle fiber diameter, Right ventricular hypertrophy,...	OMIM:612949
Smith-Magenis Syndrome	Hypothyroidism, Precocious puberty, Delayed puberty, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:819
Carnitine Palmitoyltransferase Ii Deficiency	Hypoketotic hypoglycemia, Episodic abdominal pain, Elevated circulating acylcarnitine concentrati...	ORPHA:157
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Decreased muscle mass, Precocious puberty, Decreased response to growth hormone stimulation test,...	ORPHA:96182
Idiopathic Hypereosinophilic Syndrome	Anemia, Neutrophilia, Hepatosplenomegaly, Thrombocytosis, Eosinophilia, Myeloproliferative disord...	ORPHA:3260
Alveolar Echinococcosis	Anemia, Liver abscess, Abnormal spleen morphology, Cutaneous abscess, Eosinophilia	ORPHA:284
Prader-Willi Syndrome	Hyperinsulinemia, Decreased muscle mass, Precocious puberty, Decreased response to growth hormone...	OMIM:176270
Hyperlipidemia, Familial Combined, 3	Hypercholesterolemia, Increased VLDL cholesterol concentration, Elevated circulating apolipoprote...	OMIM:144250
Congenital Disorder Of Glycosylation, Type Iif	Thrombocytopenia, Neutropenia, Decreased platelet glycoprotein Ib, Macrothrombocytopenia	OMIM:603585
Pituitary Stalk Interruption Syndrome	Hypothyroidism, Diabetes insipidus, Ectopic posterior pituitary, Hypoglycemia, Delayed puberty, A...	ORPHA:95496
Generalized Glucocorticoid Resistance Syndrome	Precocious puberty, Decreased circulating aldosterone level, Increased circulating cortisol level...	ORPHA:786
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Hypereosinophilia, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Lymphopenia, ...	ORPHA:508533
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Glycosuria, Hypophosphatemia, Diabetes mellitus, Hypoglycemia, Hypouricemia	OMIM:616026
Mucoepithelial Dysplasia, Hereditary	Eosinophilia	OMIM:158310
Arthrogryposis Multiplex Congenita 6	Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congenita	OMIM:619334
Ataxia With Vitamin E Deficiency	Hypercholesterolemia, Tendon xanthomatosis, Increased LDL cholesterol concentration, Xanthelasma,...	OMIM:277460
Cholestasis-Lymphedema Syndrome	Multiple lipomas, Abdominal pain, Hyperlipidemia, Fatigue, Bone pain	ORPHA:1414
Scleroderma	Hypereosinophilia	ORPHA:801
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypothyroidism, Hyperuricemia, Thyroiditis, Hypoglycemic seizures, Hypoglycemia, Xanthelasma, Del...	ORPHA:79259
Lathosterolosis	Anisopoikilocytosis, Hepatosplenomegaly, Schistocytosis, Increased mean platelet volume, Acanthoc...	OMIM:607330
Combined Oxidative Phosphorylation Deficiency 40	Hypoglycemia, Decreased circulating cortisol level, Elevated circulating creatine kinase concentr...	OMIM:618835
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Weakness of facial musculature, Hypoglycemia, Hypertriglyceridemia, Neonatal hypoglycemia	OMIM:619418
Combined Oxidative Phosphorylation Deficiency 42	Hypoglycemia, Decreased circulating cortisol level, Elevated circulating creatine kinase concentr...	OMIM:618839
Optic Atrophy 11	Facial diplegia, Increased variability in muscle fiber diameter, Fiber type grouping, Splenomegaly	OMIM:617302
Myopathy, Mitochondrial, And Ataxia	Increased variability in muscle fiber diameter, Increased circulating prolactin concentration, Hy...	OMIM:617675
Cholestasis, Progressive Familial Intrahepatic, 5	Hypoglycemia, Hyperammonemia, Conjugated hyperbilirubinemia, Elevated circulating alpha-fetoprote...	OMIM:617049
Apolipoprotein C-Ii Deficiency	Hypercholesterolemia, Increased circulating chylomicron concentration, Hypertriglyceridemia, Decr...	OMIM:207750
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Neutral Lipid Storage Disease With Ichthyosis	Abnormal circulating creatine kinase concentration, Increased intramyocellular lipid droplets, EM...	ORPHA:98907
Pituitary Apoplexy	Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t...	ORPHA:95613
Incontinentia Pigmenti	Leukocytosis, Eosinophilia	OMIM:308300
Primary Triglyceride Deposit Cardiomyovasculopathy	Skeletal myopathy, Abnormality of the calf musculature, Abnormality of the shoulder girdle muscul...	ORPHA:565612
Macrophage Activation Syndrome	Hypertriglyceridemia, Increased circulating ferritin concentration, Elevated circulating C-reacti...	ORPHA:158061
Congenital Analbuminemia	Hypercholesterolemia, Increased alpha-globulin, Lipodystrophy, Hypoproteinemia, Hyperlipidemia, F...	ORPHA:86816
Thrombocytopenia-Absent Radius Syndrome	Anemia, Hepatosplenomegaly, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:274000
Syndromic Diarrhea	Splenomegaly, Hypoplasia of the thymus, Lymphopenia, Thrombocytosis, Increased mean platelet volume	ORPHA:84064
Trichohepatoenteric Syndrome 1	Thrombocytosis, Increased mean platelet volume, Splenomegaly	OMIM:222470
Hyperlipoproteinemia, Type I	Episodic abdominal pain, Lactescent serum, Hyperlipidemia, Hypercholesterolemia, Increased circul...	OMIM:238600
Mandibuloacral Dysplasia Progeroid Syndrome	Flexion contracture, Left ventricular hypertrophy, Generalized lipodystrophy, Elevated hemoglobin...	OMIM:619127
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Type 1 fibers relatively smaller than type 2 fibers, Generalized muscle weakness, Hepatomegaly, F...	OMIM:619424
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Increased variability in muscle fiber diameter, Proximal muscle weakness, Ophthalmoparesis, Ragge...	ORPHA:70595
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Hypoalbuminemia	OMIM:603278
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Increased variability in muscle fiber diameter, Myopathy, Hepatomegaly	OMIM:604377
Incontinentia Pigmenti	Eosinophilia	ORPHA:464
Bloom Syndrome	Diabetes mellitus, Insulin resistance, Adipose tissue loss	ORPHA:125
Hemophagocytic Lymphohistiocytosis, Familial, 2	Increased total bilirubin, Increased circulating ferritin concentration, Hypoproteinemia, Hyponat...	OMIM:603553
Glycogen Storage Disease Ia	Hyperuricemia, Decreased muscle mass, Hypoglycemia, Delayed puberty, Hyperlipidemia, Xanthelasma,...	OMIM:232200
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoplasia of the thymus	OMIM:619313
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia	ORPHA:209902
Polymyositis	Proximal muscle weakness, Weight loss, Abdominal pain, Abnormal muscle fiber morphology, Arthralg...	ORPHA:732
Acute Adrenal Insufficiency	Hyperuricemia, Decreased circulating aldosterone level, Abdominal pain, Decreased circulating cor...	ORPHA:95409
Aapoaiv Amyloidosis	Diabetes mellitus, Back pain, Elevated circulating creatinine concentration, Hyperlipidemia	ORPHA:439232
Hyperlipoproteinemia, Type Id	Decreased LDL cholesterol concentration, Hyperlipoproteinemia, Decreased HDL cholesterol concentr...	OMIM:615947
Addison Disease	Decreased circulating aldosterone level, Decreased circulating cortisol level, Primary adrenal in...	ORPHA:85138
Native American Myopathy	Muscle fiber atrophy, Abnormality of skeletal muscle fiber size, Camptodactyly, Muscle weakness, ...	ORPHA:168572
Familial Hemophagocytic Lymphohistiocytosis	Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia	ORPHA:540
Thyrotoxic Periodic Paralysis	Late-onset proximal muscle weakness, Hyperthyroidism, Rhabdomyolysis, Respiratory paralysis, Weig...	ORPHA:79102
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities	Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter	OMIM:619173
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Increased circulating ACTH level, Decreased circulating cortisol level, Hyperkalemia, Adrenal hyp...	ORPHA:90790
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Increased variability in muscle fiber diameter, Flexion contracture, Rhabdomyolysis, Elevated hep...	ORPHA:17
Igg4-Related Pachymeningitis	Eosinophilia	ORPHA:449427
Coccidioidomycosis	Granuloma, Abnormality of the spleen, Abscess, Eosinophilia	ORPHA:228123
Diarrhea 10, Protein-Losing Enteropathy Type	Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Hyponatremia, Hyp...	OMIM:618183
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Thyroid hypoplasia, Hypoglycemia, Decreased circulating T4 concentration, Decreased circulating f...	ORPHA:226307
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Thrombocytopenia, Increased mean platelet volume	ORPHA:487796
Tenorio Syndrome	Hypoglycemia, Hypoinsulinemia, Macroglossia	OMIM:616260
Wiskott-Aldrich Syndrome	Anemia, Hypoplasia of the thymus, Hemolytic anemia, Abnormal platelet function, Abnormal eosinoph...	ORPHA:906
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Poor head control, Increased variability in muscle fiber diameter, Muscular dystrophy	OMIM:616538
Lmna-Related Cardiocutaneous Progeria Syndrome	Pulmonary carcinoid tumor, Lipoatrophy, Hypertriglyceridemia, Hypercholesterolemia	ORPHA:363618
Turner Syndrome Due To Structural X Chromosome Anomalies	High urinary gonadotropin level, Hyperinsulinemia, Hepatic fibrosis, Biliary cirrhosis, Cirrhosis...	ORPHA:99413
Turner Syndrome	High urinary gonadotropin level, Hyperinsulinemia, Hepatic fibrosis, Biliary cirrhosis, Cirrhosis...	ORPHA:881
Mosaic Monosomy X	High urinary gonadotropin level, Hyperinsulinemia, Hepatic fibrosis, Biliary cirrhosis, Cirrhosis...	ORPHA:99228
Monosomy X	High urinary gonadotropin level, Hyperinsulinemia, Hepatic fibrosis, Biliary cirrhosis, Cirrhosis...	ORPHA:99226
Lymphatic Filariasis	Hypereosinophilia	ORPHA:2035
Lysosomal Acid Lipase Deficiency	Hypercholesterolemia, Abdominal pain, Hyperkalemia, Steatorrhea, Primary adrenal insufficiency, X...	ORPHA:275761
Igg4-Related Submandibular Gland Disease	Eosinophilia	ORPHA:449432
Tangier Disease	Abdominal pain, Left ventricular hypertrophy, Facial diplegia, Hypocholesterolemia, Hypertriglyce...	ORPHA:31150
Cholestasis-Lymphedema Syndrome	Conjugated hyperbilirubinemia, Hyperlipidemia	OMIM:214900
Lysinuric Protein Intolerance	Hyperalaninemia, Hyperglycinemia, Decreased response to growth hormone stimulation test, Hyperglu...	ORPHA:470
Woodhouse-Sakati Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Diabetes mellitus, Decreased seru...	OMIM:241080
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Precocious puberty, Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia	ORPHA:369837
Wiedemann-Rautenstrauch Syndrome	Camptodactyly of finger, Increased serum estradiol, Increased circulating prolactin concentration...	ORPHA:3455
Non-Acquired Panhypopituitarism	Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Absence of ...	ORPHA:90695
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hypoketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Decreased plasma free...	ORPHA:228308
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypertriglyceridemia, Hypercholesterolemia	OMIM:610644
Sarcoidosis	Leukopenia, Anemia, Hemolytic anemia, Increased T cell count, Eosinophilia, Thrombocytopenia	ORPHA:797
Glycogen Storage Disease Ib	Hyperuricemia, Delayed puberty, Hypoglycemia, Hyperlipidemia, Xanthelasma	OMIM:232220
Hutchinson-Gilford Progeria Syndrome	Female hypogonadism, Hip pain, Absence of subcutaneous fat, Pubertal developmental failure in fem...	ORPHA:740
Igg4-Related Ophthalmic Disease	Eosinophilia	ORPHA:449563
Lethal Congenital Contracture Syndrome 10	Increased variability in muscle fiber diameter, Torticollis, Hypoplasia of the thymus, Macroglossia	OMIM:617022
Chédiak-Higashi Syndrome	Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia	ORPHA:167
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Increased variability in muscle fiber diameter, Muscular dystrophy, Macroglossia, Skeletal muscle...	OMIM:613150
Nephrotic Syndrome, Type 1	Hypothyroidism, Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia	OMIM:256300
Liver Disease, Severe Congenital	Pancreatic hypoplasia, Hepatic failure, Biliary hyperplasia, Jaundice, Abnormal hepatic echogenic...	OMIM:619991
Chronic Visceral Acid Sphingomyelinase Deficiency	Abnormal circulating lipid concentration, Increased LDL cholesterol concentration, Delayed pubert...	ORPHA:77293
Wiedemann-Rautenstrauch Syndrome	Flexion contracture, Increased serum testosterone level, Hypoplasia of the thymus, Generalized am...	OMIM:264090
Visceral Steatosis, Congenital	Hypoglycemia, Hypocalcemia, Myocardial steatosis	OMIM:228100
Glycogen Storage Disease Ic	Hyperuricemia, Delayed puberty, Hypoglycemia, Hyperlipidemia, Xanthelasma	OMIM:232240
Igg4-Related Kidney Disease	Eosinophilia	ORPHA:449395
Hemophagocytic Syndrome Associated With An Infection	Hypertriglyceridemia, Hyperproteinemia, Increased circulating ferritin concentration	ORPHA:158048
Alström Syndrome	Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic steatosis, Decreased circulating T4 co...	ORPHA:64
Immunodeficiency 87 And Autoimmunity	Hypokalemia, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration	OMIM:619573
Tropical Endomyocardial Fibrosis	Splenomegaly, Eosinophilia	ORPHA:75565
Alagille Syndrome 1	Hypertriglyceridemia, Papillary thyroid carcinoma, Hypercholesterolemia	OMIM:118450
Pmm2-Cdg	Hyperinsulinemia, Increased circulating prolactin concentration, Elevated circulating thyroid-sti...	ORPHA:79318
Viss Syndrome	Hypereosinophilia	OMIM:619472
Cushing Disease	Leukocytosis, Decreased eosinophil count, Lymphopenia	ORPHA:96253
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Central hypothyroidism, Increased circulating prolactin concentration, Gonadotropin deficiency, D...	ORPHA:293987
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Abdominal pain, Hypoalbuminemia, Hyperlipidemia, Fatigue	ORPHA:567546
Primary Sclerosing Cholangitis	Histiocytosis, Abnormal eosinophil morphology, Splenomegaly, Hepatosplenomegaly	ORPHA:171
X-Linked Lymphoproliferative Disease	Hypertriglyceridemia, Increased circulating ferritin concentration	ORPHA:2442
Fabry Disease	Diabetes insipidus, Abnormal circulating lipid concentration, Abdominal pain, Left ventricular hy...	ORPHA:324
Leukocyte Adhesion Deficiency	Hyperinsulinemic hypoglycemia	ORPHA:2968
Dermatomyositis	Abnormal eosinophil morphology	ORPHA:221
Parenteral Nutrition-Associated Cholestasis	Abdominal pain, Hyperlipidemia, Abnormal circulating fatty-acid concentration, Conjugated hyperbi...	ORPHA:567983
Cushing Syndrome Due To Ectopic Acth Secretion	Leukocytosis, Decreased eosinophil count, Lymphopenia	ORPHA:99889
Homozygous Familial Hypercholesterolemia	Sudden cardiac death, Abnormal tendon morphology, Tendon xanthomatosis, Arthralgia, Increased LDL...	ORPHA:391665

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 Prkab2

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 Prkab2.

No publications found that use IMPC mice or data for Prkab2.

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MGI Allele	Allele Type	Produced
Prkab2^{tm1(NCOM)Cmhd}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Prkab2^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice
Prkab2^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Prkab2^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Prkab2 MGI:1336185

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Embryo LacZ

Adult LacZ

X-ray

X-ray

X-ray

MicroCT E18.5

MicroCT E14.5-E15.5

Immunophenotyping

Auditory Brain Stem Response

Immunophenotyping

Human diseases caused by Prkab2 mutations

Histopathology

IMPC related publications

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Access Data Release 19.0 Data