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Gene: Pik3r1 MGI:97583

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
phosphoinositide-3-kinase regulatory subunit 1
Synonyms:
PI3K,  p50alpha,  p55alpha,  p85alpha

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Pik3r1 mutations

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

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

The table below shows human diseases predicted to be associated to Pik3r1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Maturity-Onset Diabetes Of The Young, Type 4
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 7
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:610508
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Maturity-Onset Diabetes Of The Young, Type 6
Maturity-onset diabetes of the young OMIM:606394
Maturity-Onset Diabetes Of The Young, Type 2
Maturity-onset diabetes of the young OMIM:125851
Type 1 Diabetes Mellitus 2
Type I diabetes mellitus OMIM:125852
Type 1 Diabetes Mellitus 20
Type I diabetes mellitus OMIM:612520
Maturity-Onset Diabetes Of The Young, Type 9
Maturity-onset diabetes of the young OMIM:612225
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Maturity-Onset Diabetes Of The Young, Type 1
Maturity-onset diabetes of the young OMIM:125850
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:610021
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Multiple Symmetric Lipomatosis
Insulin resistance, Hepatomegaly, Multiple lipomas, Abnormal adipose tissue morphology ORPHA:2398
Lipodystrophy, Familial Partial, Type 1
Increased subcutaneous truncal adipose tissue, Insulin-resistant diabetes mellitus, Increased fac... OMIM:608600
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Immunodeficiency 24
Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell... OMIM:615897
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count, Recurrent ... OMIM:613495
Lipase Deficiency, Combined
Pancreatitis, Lipodystrophy, Type II diabetes mellitus OMIM:246650
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Polycystic ovaries, Pancreatitis, Hepato... ORPHA:79084
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can... OMIM:242870
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Hypoketotic hypoglycemia, Neonatal hypoglycemia, Nonketotic hypoglycemia ORPHA:293964
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia ORPHA:314802
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hyperinsulinemia, Reduced subcutaneous adipose tissue, Hepatic steatosis, Polyc... ORPHA:280356
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Generalized lipodystrophy, Hepatosplenomegaly, Reduced subcutaneous adipose t... OMIM:612526
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Abnormal B cell morphology OMIM:616911
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Failure to thrive, Umbilical hernia, Hyperglycemia, Transie... ORPHA:99886
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Lipodystrophy, Lipoat... OMIM:613877
Immunodeficiency 112
Decreased circulating IgG level, Reduced natural killer cell count, Recurrent viral infections, C... OMIM:620449
Immunodeficiency, Common Variable, 3
Abnormal T cell count, Chronic decreased circulating total IgG, Recurrent otitis media, Decreased... OMIM:613493
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Decreased response to growth hormone stimulation test, Cholestasis, Hyperinsul... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Decreased response to growth hormone stimulation test, Cholestasis, Hyperinsul... ORPHA:71526
Type 2 Diabetes Mellitus
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus OMIM:125853
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Agammaglobulinemia,... OMIM:613500
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Decreased serum insulin-like growth factor 1, Delayed puberty, Truncal obesity ORPHA:140941
Optic Atrophy--Spastic Paraplegia Syndrome
Abnormal oral glucose tolerance OMIM:311100
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Obesity, Type II diabetes mellitus, Childhood-onset truncal obesity, Increased ... ORPHA:71529
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Type I diabetes mellitus, Decreased circulating IgA level, Trans... OMIM:619707
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Recurrent bronchitis, Agammaglobulinemia, Absent circulating B cells, Neu... OMIM:613501
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk... ORPHA:411593
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi... OMIM:609968
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Increased i... ORPHA:79085
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia ORPHA:366
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Immunodeficiency 19
Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology OMIM:615617
Hemochromatosis, Neonatal
Hepatic fibrosis, Hepatic failure, Hypoglycemia, Hepatocellular necrosis, Cholestasis, Oligohydra... OMIM:231100
Lipe-Related Familial Partial Lipodystrophy
Insulin resistance, Decreased adiponectin level, Increased adipose tissue around the neck, Insuli... ORPHA:435660
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Recurrent sinusitis,... OMIM:613494
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Polycystic o... ORPHA:435651
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia, Severe failure to thrive OMIM:601410
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Z-band stream... OMIM:618655
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction OMIM:612227
Immunodeficiency 62
Decreased proportion of memory B cells, Recurrent upper respiratory tract infections, Decreased c... OMIM:618459
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia OMIM:616941
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Hepatic steatosis, Lipodystrophy, Abdominal obesity, Diabetes mellitus OMIM:615980
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:609016
Myopathy, Distal, With Rimmed Vacuoles
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Z-band ... OMIM:617158
Immunodeficiency 18
Reduced natural killer cell count, Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Abno... OMIM:615615
Acquired Partial Lipodystrophy
Insulin resistance, Hepatic steatosis, Lipoatrophy, Generalized hirsutism ORPHA:79087
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, ... OMIM:606762
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Fasting hypoglycemia, Polyhydramnios, Hypoinsulinemia, Neonatal hypoglycemia OMIM:240900
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Hepatic fibrosis, Type I diabetes mellitus, Failure to thrive, Hepatos... OMIM:619858
Splenoportal Vascular Anomalies
Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system, Diabete... OMIM:271500
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p... OMIM:618204
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:612692
RCAD (renal cysts and diabetes)
Diabetes mellitus DECIPHER:47
Insulinomatosis And Diabetes Mellitus
Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes mellitus, Hyperinsulinemic h... OMIM:147630
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... OMIM:606843
Lipodystrophy, Familial Partial, Type 2
Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus, Increased facial a... OMIM:151660
Immunodeficiency, Common Variable, 13
Recurrent viral infections, Pancytopenia, Decreased circulating antibody level, Recurrent fungal ... OMIM:616873
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Cernunnos-Xlf Deficiency
Recurrent viral infections, Lymphopenia, Decreased circulating antibody level, Recurrent bacteria... ORPHA:169079
Short Stature Due To Ghsr Deficiency
Hypoglycemia ORPHA:314811
Myelolymphatic Insufficiency
Recurrent bacterial infections, Leukopenia, Recurrent viral infections, Hyposegmentation of neutr... OMIM:310350
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:613502
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Proximal muscle weakness in lower limbs, Elevated cir... ORPHA:171706
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Hyperinsulinemia, Hypoketotic hypoglycemia, Excessive insul... ORPHA:324575
Lipodystrophy, Familial Partial, Type 5
Decreased adiponectin level, Hepatic steatosis, Lipodystrophy, Hepatomegaly, Decreased serum lept... OMIM:615238
Fetal Parvovirus Syndrome
Ascites, Increased nuchal translucency, Thrombocytopenia, Anemia, Hydrops fetalis ORPHA:295
Pituitary Hormone Deficiency, Combined, 4
Hypoglycemia OMIM:262700
Gne Myopathy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ... ORPHA:602
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia OMIM:262400
Preaxial Hallucal Polydactyly
Diabetes mellitus OMIM:601759
Nephrosialidosis
Ascites, Bone-marrow foam cells, Pericardial effusion, Death in childhood OMIM:256150
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism OMIM:307500
Congenital Generalized Lipodystrophy
Insulin resistance, Precocious puberty in females, Failure to thrive, Hypertrichosis, Hyperinsuli... ORPHA:528
Immunodeficiency 51
Chronic mucocutaneous candidiasis, Cutaneous abscess, Recurrent respiratory infections, Recurrent... OMIM:613953
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Type I diabetes mellitus, Premature graying of hair, Abnormal hair morphology, Reduced subcutaneo... ORPHA:1979
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Abnormality of T cell physiology, Rec... OMIM:308220
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hypoglycemia... OMIM:262190
Mody
Abnormal circulating insulin concentration, Glycosuria, Insulin-resistant diabetes mellitus, Panc... ORPHA:552
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Impaired T cell func... OMIM:607594
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hyp... ORPHA:276580
Hereditary Myopathy With Early Respiratory Failure
Rimmed vacuoles, Increased variability in muscle fiber diameter, Necrotizing myopathy, Skeletal m... ORPHA:178464
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Dorsocervical fat pad, Low anterior hairline, Delayed puberty, Hyperinsulinemi... OMIM:616033
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Recurrent infection of the gast... OMIM:605258
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus, Flexion contracture OMIM:618856
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Insulin resistance, Male hypogonadism, Hepatic steatosis, Cryptorchidism, Lipodystrophy, Loss of ... OMIM:615381
Combined Immunodeficiency, X-Linked
Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-... OMIM:312863
Familial Partial Lipodystrophy, Dunnigan Type
Insulin resistance, Cellulitis, Hepatic steatosis, Splenomegaly, Polycystic ovaries, Generalized ... ORPHA:2348
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Generalized lipodystrophy, Small for gestational age, Failure to thrive, Slender build ORPHA:50811
Pressure-Induced Localized Lipoatrophy
Absence of subcutaneous fat, Reduced subcutaneous adipose tissue, Lipoatrophy ORPHA:90160
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Generalized lipodystrophy, Hyperinsulinemia, Reduced subcutaneous adipose tis... ORPHA:363400
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hyp... ORPHA:276575
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Failure to thrive, Hypoglycemia OMIM:606528
Immunodeficiency 10
Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Hypoglycemia, Recurrent urinary tra... OMIM:612783
Congenital Disorder Of Glycosylation, Type Iir
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... OMIM:301045
Immunodeficiency 52
Persistent CMV viremia, Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphop... OMIM:617514
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Phaeohyphomycosis, Abn... OMIM:212050
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Fatty re... OMIM:618848
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Hepatitis, Abnormal pan... ORPHA:139507
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Progressive loss of facial adipose tissue, Lipodystrophy, Loss of facial adipose tissue, Loss of ... OMIM:613913
Immunodeficiency 105
Reduced natural killer cell count, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired lympho... OMIM:619924
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hypoketotic hypoglycemia, Hepatic necrosis, ... OMIM:231530
Donohue Syndrome
Postprandial hyperglycemia, Precocious puberty, Hepatic fibrosis, Hypertrichosis, Cholestasis, Hy... OMIM:246200
Drug-Induced Localized Lipodystrophy
Absence of subcutaneous fat, Reduced subcutaneous adipose tissue, Lipoatrophy ORPHA:90157
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:615158
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Cranial Nerves, Recurrent Paresis Of
Diabetes mellitus OMIM:218200
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Neutropenia, Recurrent bacterial infect... OMIM:616022
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Recurrent mycobacterial infections, Decreased circulating IgG level, Invasive fungal infection, C... ORPHA:98813
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, D... OMIM:615513
Cardiomyopathy, Familial Restrictive, 6
Hepatic artery hyperplasia, Ascites, Death in infancy, Portal vein hypoplasia, Hepatomegaly, Hydr... OMIM:619433
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Impaired T cell func... OMIM:240500
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Nonimmune hydrops fetali... OMIM:265300
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat... OMIM:613496
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal immunoglobulin level, ... ORPHA:276
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia OMIM:618987
3-Methylglutaconic Aciduria Type 1
Hypoglycemia ORPHA:67046
Mandibuloacral Dysplasia
Insulin resistance, Alopecia, Increased subcutaneous truncal adipose tissue, Contractures of the ... ORPHA:2457
Ascites, Chylous
Chylous ascites OMIM:208300
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism OMIM:183350
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal mus... OMIM:601954
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased specific pneumococcal antibody level, Abnormal T cell count, Decreased circulating IgG ... OMIM:620430
Spinal Muscular Atrophy, Type Iv
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:271150
Immunodeficiency 61
Recurrent otitis media, Decreased circulating IgG2 level, Recurrent sinusitis, Decreased circulat... OMIM:300310
Immunodeficiency 102
Decreased proportion of CD4-positive helper T cells, Recurrent lower respiratory tract infections... OMIM:301082
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Glycogen Storage Disease Vi
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Increased he... OMIM:232700
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity, Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (T... OMIM:614662
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, Decreased specific anti-polysaccharide antibody level, De... ORPHA:70593
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Recurrent bacterial infecti... OMIM:202700
Short Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Abse... OMIM:269880
Panniculitis-Induced Localized Lipodystrophy
Absence of subcutaneous fat, Reduced subcutaneous adipose tissue, Lipoatrophy ORPHA:90159
Obesity And Hypopigmentation
Red hair, Hyperinsulinemia, Obesity, Hepatic steatosis OMIM:620195
Immunodeficiency 109 With Lymphoproliferation
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho... OMIM:620282
Immunodeficiency 36 With Lymphoproliferation
Persistent CMV viremia, Decreased circulating IgG level, Recurrent upper respiratory tract infect... OMIM:616005
Ectodermal Dysplasia, Trichoodontoonychial Type
Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Abnormal eyelash morphology, Sparse hair, Li... ORPHA:1818
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Hip flexo... ORPHA:266
Inclusion Body Myopathy And Brain White Matter Abnormalities
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:619733
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Abnormal T cell count, Recurrent viral infections, Recurrent ent... ORPHA:331206
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Secondary Intestinal Lymphangiectasia
Anasarca, Decreased circulating IgG1 level, Secondary hyperaldosteronism, Lymphedema, Lymphopenia... ORPHA:90363
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Glucose intoleran... OMIM:608612
Ddost-Cdg
Lipodystrophy, Hepatic steatosis, Failure to thrive, Primary hypothyroidism ORPHA:300536
Aredyld Syndrome
Type I diabetes mellitus, Sparse body hair, Abnormal dental enamel morphology, Type II diabetes m... ORPHA:1133
Myopathy, Sarcoplasmic Body
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620286
Glycogen Storage Disease Iii
Hepatic fibrosis, Ventricular hypertrophy, Distal amyotrophy, Elevated circulating hepatic transa... OMIM:232400
Pparg-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Loss of facial adipose tissue, Hepatic s... ORPHA:79083
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Hepatosplenomegaly, Hemophagocytosis, Reduced delayed hypersensit... OMIM:607624
Whim Syndrome 1
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Neutropenia, Recur... OMIM:193670
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Limb-... OMIM:615424
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Obesity, Type II diabetes mellitus, Hepatic steatosis OMIM:615703
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Insulin resistance, Decreased adiponectin level, Increased adipose tissue around the neck, Premat... ORPHA:280365
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Partial absence of specific antibody respon... OMIM:619824
Immunodeficiency 76
Lymphopenia, T lymphocytopenia, Splenomegaly, B lymphocytopenia OMIM:619164
Membranoproliferative Glomerulonephritis, X-Linked
Lipodystrophy OMIM:305800
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia OMIM:616095
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Type I diabetes mellitus, Small for gestational age, Diabetic ketoacidosis OMIM:618858
Immunodeficiency 50
Recurrent urinary tract infections, Lymphopenia, Neutropenia, Recurrent respiratory infections, D... OMIM:300988
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased proportion of CD4+CD25+ regulatory T cells, Type I diabetes mellitus, Recurrent viral i... OMIM:606367
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Excessive... ORPHA:276556
Adult Idiopathic Neutropenia
Lymphopenia, Recurrent bacterial infections, Helicobacter pylori infection, Recurrent fungal infe... ORPHA:2688
Diffuse Neonatal Hemangiomatosis
Ascites, Polyhydramnios, Hepatomegaly, Thrombocytopenia, Anemia, Hydrops fetalis ORPHA:2123
Immunodeficiency 115 With Autoinflammation
Decreased circulating IgG level, Recurrent viral infections, Splenomegaly, Recurrent bacterial in... OMIM:620632
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Hyperglycemia, Abnormality of body mass index, Maternal dia... OMIM:616329
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Nemaline bodies, Increased variability in muscle fiber diameter, Increased endomysial connective ... OMIM:620265
Immunodeficiency, Common Variable, 10
Decreased circulating IgG level, Recurrent pneumonia, Hypoglycemia, Frequent Giardia lamblia infe... OMIM:615577
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Recurrent viral infections, Pancytopenia, Decreased proportion of CD4-pos... ORPHA:572
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Fasting hyperinsulinemia ORPHA:35878
Inclusion Body Myositis
Rimmed vacuoles, Skeletal muscle atrophy, Quadriceps muscle weakness, Inflammatory myopathy, Ragg... ORPHA:611
Alpha-Heavy Chain Disease
Anemia, Hepatomegaly, Splenomegaly, Ascites ORPHA:100025
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Decreased testicular size, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Cryptor... ORPHA:3085
Cholestasis, Progressive Familial Intrahepatic, 5
Hepatic failure, Hypoglycemia, Ascites, Elevated circulating aspartate aminotransferase concentra... OMIM:617049
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... ORPHA:2298
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:608106
Oculopharyngodistal Myopathy 2
Rimmed vacuoles, Increased variability in muscle fiber diameter, Increased endomysial connective ... OMIM:618940
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Type I diabetes mellitus, Diabetes mellitus, Small for gestational age OMIM:606176
Short Syndrome
Insulin resistance, Alopecia, Abnormal dental enamel morphology, Inguinal hernia, Lipodystrophy, ... ORPHA:3163
Hemochromatosis, Type 1
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Ascites, Glucose intoler... OMIM:235200
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Decreased circulating IgG level, Recurrent pneumonia, Reduced natural killer cell a... OMIM:619281
Immunodeficiency 48
Pneumocystis carinii pneumonia, Recurrent candida infections, Panhypogammaglobulinemia, Abnormal ... OMIM:269840
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Hepatosplenomegaly, Increased proportion of memory T cells OMIM:618982
Acquired Generalized Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Generalized lipodystrophy, Hyperinsuline... ORPHA:79086
Myopathy, Distal, Tateyama Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Hand ... OMIM:614321
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... OMIM:617760
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Ankle flexion contracture, Increased variability in muscle fiber diameter, Limb-girdle muscular d... OMIM:608099
Immunodeficiency 67
Recurrent staphylococcal infections, Abnormal T cell count, Increased circulating IgE level, Tran... OMIM:607676
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones
Failure to thrive, Generalized lipodystrophy, Slender build, Congenital generalized lipodystrophy... OMIM:608154
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Obesity ORPHA:329249
Stiff Skin Syndrome
Elbow flexion contracture, Lipodystrophy, Knee flexion contracture, Camptodactyly OMIM:184900
Mannose-Binding Lectin Deficiency
Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ... OMIM:614372
Myopathy, Distal, 7, Adult-Onset, X-Linked
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:301075
Proprotein Convertase 1/3 Deficiency
Elevated circulating proinsulin concentration, Reactive hypoglycemia, Decreased circulating corti... OMIM:600955
Pediatric Hepatocellular Carcinoma
Portal vein thrombosis, Hepatic fibrosis, Hepatic necrosis, Hepatomegaly ORPHA:33402
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w... ORPHA:206549
Mandibuloacral Dysplasia With Type A Lipodystrophy
Alopecia, Sparse scalp hair, Increased adipose tissue around the neck, Insulin-resistant diabetes... OMIM:248370
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent viral infections, Increased circulating IgE level, ... OMIM:611521
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Death in adolescence, Increased variability in muscle fiber diameter, Muscle fiber intracytoplasm... OMIM:300717
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Recurrent viral infections, Abnormal circulating IgM leve... OMIM:618048
Tibial Muscular Dystrophy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... ORPHA:609
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscl... ORPHA:2593
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H... OMIM:620211
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Portal inflamm... OMIM:602347
Congenital Myopathy 14
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle... OMIM:618414
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Insulin-Like Growth Factor I, Resistance To
Highly arched eyebrow, Thick eyebrow, Reduced subcutaneous adipose tissue, Decreased body weight,... OMIM:270450
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, Elevated circulati... OMIM:251880
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent upper respiratory tract infections, Recurrent pneumonia, Lack of T cell function, Recur... ORPHA:277
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Glucose intolerance, Obesity ORPHA:369873
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Anemia, Hypoglycemia OMIM:610090
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Hepatocellular necrosis, Hypertrophic cardiomyopathy, Exercise-induced rhabd... OMIM:201475
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hypog... ORPHA:369
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Pneumocystis jirovecii pneumonia, Decreased circulating IgG level, T... OMIM:301078
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Pa... OMIM:617872
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Hypoglycemia, Congenital hepatic fibrosis ORPHA:446
Glycogen Storage Disease Ixb
Hypoglycemia, Splenomegaly, Increased hepatic glycogen content, Hepatomegaly, Increased muscle gl... OMIM:261750
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase concentratio... OMIM:619463
Immunodeficiency 13
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... OMIM:615518
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:620402
Spinal Muscular Atrophy, Infantile, James Type
Increased variability in muscle fiber diameter, Distal amyotrophy, Lower limb muscle weakness, Ty... OMIM:619042
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Minicore myopathy, Increased variability in muscle fiber diameter, Nemaline bodies, Elbow contrac... OMIM:620386
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Small for gestational age, Glycosuria OMIM:618857
Glycogen Storage Disease Ixd
Distal amyotrophy, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weaknes... OMIM:300559
Myopathy, Myofibrillar, 3
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dista... OMIM:609200
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Fasting hyperins... ORPHA:71212
Immunodeficiency 34
Recurrent mycobacterial infections, Pulmonary tuberculosis, BCGosis OMIM:300645
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Obesity, Ty... OMIM:619326
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent viral infections, Recurrent candida infections, Increased circulating IgE level, Recurr... ORPHA:217390
Stiff Skin Syndrome
Type II diabetes mellitus, Lipoatrophy ORPHA:2833
Immunodeficiency With Hyper-Igm, Type 4
Recurrent upper respiratory tract infections, Recurrent infection of the gastrointestinal tract, ... OMIM:608184
Immunodeficiency 116
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent viral infections, Abs... OMIM:608957
Werner Syndrome
Insulin resistance, Abnormal hair whorl, Chondrocalcinosis, Premature graying of hair, Hypogonadi... ORPHA:902
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Asci... OMIM:617394
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent mycobacterial infections, Decreased circulating IgG level, Recurrent viral infections, ... ORPHA:275
Lipodystrophy, Congenital Generalized, Type 1
Acute pancreatitis, Umbilical hernia, Decreased serum leptin, Hyperinsulinemia, Reduced subcutane... OMIM:608594
Glycogen Storage Disease Iv
Hepatic failure, Skeletal muscle atrophy, Ascites, Hepatosplenomegaly, Portal hypertension, Cirrh... OMIM:232500
Mhc Class Ii Deficiency 1
Cutaneous anergy, Recurrent upper respiratory tract infections, Recurrent viral infections, Chron... OMIM:209920
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circulating hepatic tran... ORPHA:64743
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Obesity OMIM:618406
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Increased urinary cortisol level, Hyperglycemia, Macronodul... OMIM:615954
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Hypoglycemia, Elevated circulating aspartate aminotransferase concentrat... OMIM:619048
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Polyhydramnios, Splenomegaly, Hepatomegaly, Hydrops fetalis OMIM:619462
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Failure to thrive, Hyperinsulinemia, Hepatic steatosis, Splenomegaly, Hirsuti... OMIM:613327
Complement Component 7 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:610102
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... OMIM:117000
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Ascites, Oligohydramnios, Polyhydramnios, Splenomegaly, Anemia ORPHA:1046
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Hepatic Veno-Occlusive Disease
Hepatomegaly, Jaundice, Elevated circulating hepatic transaminase concentration, Ascites ORPHA:890
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemia, Recurrent opportun... OMIM:601457
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:254110
Perlman Syndrome
Abnormal pancreas morphology, Hyperinsulinemia, Inguinal hernia, Cryptorchidism, Hepatomegaly, Fe... ORPHA:2849
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Recurrent ... OMIM:618986
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating IgG level, Pneumocystis jirovecii pneumonia, Recurrent upper respiratory tr... OMIM:614069
Familial Multiple Lipomatosis
Insulin resistance, Lipodystrophy, Increased adipose tissue ORPHA:199276
Congenital Toxoplasmosis
Elevated circulating hepatic transaminase concentration, Ascites, Hepatomegaly, Thrombocytopenia,... ORPHA:858
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Recurrent enteroviral infections, Panhypogammaglobulinemia, Recurrent otitis... OMIM:601495
Sialidosis Type 2
Skeletal muscle atrophy, Ascites, Splenomegaly, Hepatomegaly, Flexion contracture, Hydrops fetali... ORPHA:87876
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections, Recurrent viral infections, Severe viral infection, BCGitis OMIM:616126
Immunodeficiency 70
Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, Recurrent s... OMIM:618969
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperinsulinemia, Increased serum leptin, Obesity OMIM:617885
Focal Segmental Glomerulosclerosis 1
Anemia, Pleural effusion, Edema, Ascites OMIM:603278
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Se... ORPHA:293978
Combined Oxidative Phosphorylation Deficiency 10
Hypoglycemia, Hypertrophic cardiomyopathy, Ascites, Oligohydramnios, Pleural effusion, Cardiomega... OMIM:614702
Caspase 8 Deficiency
Decreased circulating IgG level, Decreased CD4:CD8 ratio, Decreased circulating IgA level, Spleno... OMIM:607271
Diarrhea 13
Recurrent hypoglycemia OMIM:620357
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Rimmed vacuoles, Increased variability in muscle fiber diameter, Myofibrillar myopathy, Skeletal ... ORPHA:34516
Rapidly Involuting Congenital Hemangioma
Hepatic hemangioma, Lipoatrophy ORPHA:141184
Microcephalic Primordial Dwarfism, Montreal Type
Premature graying of hair, Alopecia of scalp, Cryptorchidism, Low posterior hairline, Hyperhidros... ORPHA:2617
Idiopathic Localized Lipodystrophy
Absence of subcutaneous fat, Reduced subcutaneous adipose tissue, Lipoatrophy ORPHA:90158
Endocardial Fibroelastosis
Endocardial fibroelastosis, Restrictive cardiomyopathy, Anterior hypopituitarism, Hypoglycemia ORPHA:2022
Propionic Acidemia
Hepatomegaly, Cardiomyopathy, Hypoglycemia ORPHA:35
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Exocrine pancreatic insufficiency, Hyperglycemia, Maturity-onset diabetes of the young OMIM:609812
Immunodeficiency With Hyper-Igm, Type 1
Enteroviral encephalitis, Increased circulating IgA level, Neutropenia, Meningitis, Recurrent low... OMIM:308230
Polyendocrine-Polyneuropathy Syndrome
Proximal muscle weakness in lower limbs, Central hypothyroidism, Hypoglycemia, Decreased serum te... ORPHA:453533
Poems Syndrome
Increased circulating prolactin concentration, Hypertrichosis, Hypogonadism, Leukonychia, Primary... ORPHA:2905
Adult-Onset Nemaline Myopathy
Nemaline bodies, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Upper li... ORPHA:171442
Ane Syndrome
Alopecia, Adrenocorticotropin deficient adrenal insufficiency, Decreased response to growth hormo... ORPHA:157954
Alpha-B Crystallin-Related Late-Onset Myopathy
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Accumulation of mu... ORPHA:399058
Ruijs-Aalfs Syndrome
Premature graying of hair, Elbow flexion contracture, Hypogonadism, Decreased body weight, Lipody... OMIM:616200
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Cholestasis, Ascites, Oligohydramnios, Death in infancy, Neonatal death... OMIM:608104
Neuraminidase Deficiency
Facial edema, Skeletal muscle atrophy, Cardiomyopathy, Ascites, Inguinal hernia, Splenomegaly, Ca... OMIM:256550
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia, Decreased liver function, Hypoglycemia, Cardiomyopathy ORPHA:67048
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy
Multiple lipomas, Lipodystrophy OMIM:151800
Infantile Sialic Acid Storage Disease
Ascites, Splenomegaly, Death in childhood, Hepatomegaly, Vacuolated lymphocytes, Hydrops fetalis OMIM:269920
Congenital Pulmonary Lymphangiectasia
Ascites, Pleural effusion, Splenomegaly, Hepatomegaly, Hydrops fetalis, Chylopericardium ORPHA:2414
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:619178
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci OMIM:233670
Agammaglobulinemia 9, Autosomal Recessive
Recurrent bacterial infections, Absent circulating B cells, Thrombocytopenia, Agammaglobulinemia OMIM:619693
Arthrogryposis Multiplex Congenita 6
Nemaline bodies, Increased variability in muscle fiber diameter, Death in childhood, Death in inf... OMIM:619334
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Ascites, Polycystic liver disease OMIM:174050
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Meningitis, Decreased lymphocyte proliferation in response to mitogen, Opp... ORPHA:83471
Lipodystrophy, Congenital Generalized, Type 2
Umbilical hernia, Decreased serum leptin, Hyperinsulinemia, Type II diabetes mellitus, Reduced su... OMIM:269700
Immunodeficiency 110 With Lymphoproliferation
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Ch... OMIM:614868
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Type II diabetes mellitus, Impaired glucose tolerance OMIM:610947
Familial Isolated Dilated Cardiomyopathy
Lipoatrophy ORPHA:154
Maturity-Onset Diabetes Of The Young, Type 14
Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616511
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Hypoglycemia, Failure to thrive, Hyperglycemia, Reduced subcutaneous adipo... OMIM:609069
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Increased he... OMIM:613027
Activated Pi3K-Delta Syndrome
Recurrent tonsillitis, Recurrent otitis media, Decreased circulating antibody level, Splenomegaly... ORPHA:397596
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancyt... OMIM:308240
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia ORPHA:6
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... OMIM:618534
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Specific Granule Deficiency 1
Recurrent pneumonia, Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent ne... OMIM:245480
Congenital Myopathy 8
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Type 1 muscle fiber predomi... OMIM:618654
Ornithine Transcarbamylase Deficiency
Hypoglycemia ORPHA:664
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Dilated cardiomyopathy, Dehydration, Pulmonic stenosis ORPHA:79159
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Hypoketotic hypoglycemia, Hyperinsulinemia, Large for gestational age, Pancreatic isl... ORPHA:263455
Carcinoid Syndrome
Increased serum serotonin, Elevated circulating hepatic transaminase concentration, Hepatic necro... ORPHA:100093
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Recurrent respiratory infections, Panhypogammaglobulinemia, Ag... OMIM:615214
Chylous Ascites
Ascites, Pancreatitis, Lymphedema ORPHA:1160
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Reduced natural killer cell count, Recurrent viral infections, Recurrent pneumonia, Cutaneous abs... OMIM:243700
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatic failure, Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy... ORPHA:367
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... OMIM:618129
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atypical scarring of skin, Sparse eyebrow, Testicular torsion, Atrophic scars, Cryptorchidism, Sp... ORPHA:75496
Analbuminemia
Lipodystrophy OMIM:616000
Myopathy, X-Linked, With Postural Muscle Atrophy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hypertr... OMIM:300696
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Dihydrolipoamide Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Decreased liver function, Hypoglycemia, ... OMIM:246900
Myasthenic Syndrome, Congenital, 14
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... OMIM:616228
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Cutaneous abscess,... OMIM:618944
Myopathy, Scapulohumeroperoneal
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... OMIM:616852
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Rimmed vacuoles, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, ... OMIM:612937
Combined Oxidative Phosphorylation Deficiency 40
Hypoglycemia, Decreased liver function, Death in infancy, Neonatal death, Nonimmune hydrops fetal... OMIM:618835
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Hepatic failure, Skeletal muscle atrophy, Micronodular cirrhosis, Hypoglycemia, Recurrent hypogly... OMIM:256810
Combined Oxidative Phosphorylation Deficiency 42
Hypoglycemia, Decreased liver function, Death in infancy, Neonatal death, Nonimmune hydrops fetal... OMIM:618839
Estrogen Resistance
Breast aplasia, Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Polycystic ovar... OMIM:615363
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Pneumocystis jirovecii pneumonia, Agammaglo... OMIM:615206
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Muscular... OMIM:619566
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Congenital Short Bowel Syndrome
Sparse hair, Lipoatrophy ORPHA:2301
Nemaline Myopathy 2
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fiber splitting, Nemaline... OMIM:256030
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Limb muscle weakness, Ty... OMIM:616313
Rhabdomyolysis, Susceptibility To, 1
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... OMIM:620235
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... OMIM:618108
Wolman Disease
Hepatic failure, Ascites, Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells ORPHA:75233
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Recurrent hypoglycemia, Hypertrophic cardiomyopathy, Elevated circulating asparta... OMIM:212140
Selective Igm Deficiency
Decreased proportion of CD8-positive T cells, Recurrent bronchitis, Tooth abscess, Meningitis, Au... ORPHA:331235
Immunodeficiency 68
Abnormal natural killer cell count, T lymphocytopenia, Abscess, B lymphocytopenia OMIM:612260
Immunodeficiency 33
Pneumocystis jirovecii pneumonia, Disseminated nontuberculous mycobacterial infection, Increased ... OMIM:300636
Wolcott-Rallison Syndrome
Neonatal insulin-dependent diabetes mellitus, Elevated circulating hepatic transaminase concentra... ORPHA:1667
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... OMIM:253601
Progeroid Syndrome, Petty Type
Failure to thrive, Umbilical hernia, Abnormal hair morphology, Thick eyebrow, Long eyelashes in i... ORPHA:2963
Distal Myopathy, Tateyama Type
Calf muscle hypoplasia, Increased variability in muscle fiber diameter, Abnormal muscle fiber pro... ORPHA:488650
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Sparse hair, Lipoatrophy, Failure to thrive, Aplasia/Hypoplasia of the eyebrow ORPHA:261304
Myopathy, Tubular Aggregate, 1
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Myopathy, Weakn... OMIM:160565
Immunodeficiency 15B
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Aga... OMIM:615592
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Abnormal T cell count, Recurrent enteroviral infections, Enteroviral dermatomyositis syndrome, Re... OMIM:307200
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Immunodeficiency 59 And Hypoglycemia
Recurrent upper respiratory tract infections, Sepsis, Herpes simplex encephalitis, Hypoglycemia, ... OMIM:233600
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Adrenal cortical sclerosis, Recurrent pneumonia, Recurrent viral infections, Chronic mucocutaneou... OMIM:102700
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Increased mean corpuscular volume, Extramedullary hematopoiesis, Decreased liver function, Ascite... OMIM:617021
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Polycystic ovaries, Hirsutism, Enlarged ... ORPHA:90301
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Umbilical hernia, Hyperglycemia, Inguinal hernia, Cryptorchidism, ... OMIM:175700
Niemann-Pick Disease, Type A
Skeletal muscle atrophy, Sea-blue histiocytosis, Microcytic anemia, Elevated circulating aspartat... OMIM:257200
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy, Hypoglycemia, H... ORPHA:26791
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgE, Reduced natural ... OMIM:300400
Galactokinase Deficiency
Failure to thrive, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly, Hepatomegaly, Small for ge... ORPHA:79237
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent mycobacterial infections, Decreased lymphocyte proliferation in response to mitogen, Re... ORPHA:911
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Cardiomyopathy, Hepatic steatosis, Myopathy ORPHA:26792
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Decreased circulating antibody... OMIM:619846
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Fatt... OMIM:608807
Bangstad Syndrome
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... ORPHA:1227
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia OMIM:616111
Lymphoproliferative Syndrome 2
Decreased lymphocyte proliferation in response to mitogen, Aplastic anemia, Hemophagocytosis, Asc... OMIM:615122
Classic Galactosemia
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Ascites, ... ORPHA:79239
Riboflavin Deficiency
Hypoglycemia OMIM:615026
Combined Oxidative Phosphorylation Deficiency 41
Hypoglycemia, Nonimmune hydrops fetalis, Cardiomegaly, Decreased circulating cortisol level, Anemia OMIM:618838
Primary Intestinal Lymphangiectasia
Decreased circulating IgG level, Generalized edema, Peritoneal effusion, Ascites, Lymphopenia, De... ORPHA:90362
Cerebrooculofacioskeletal Syndrome 1
Insulin resistance, Joint contracture of the hand, Failure to thrive, Elbow flexion contracture, ... OMIM:214150
Ovarian Hyperstimulation Syndrome
Ascites OMIM:608115
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Polyhydramnios, Facial palsy, Fron... OMIM:300580
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Lipodystrophy, Splenomegaly, Failure to thrive OMIM:608776
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Oculopharyngodistal Myopathy 3
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Increased end... OMIM:619473
Alg3-Cdg
Abnormality of the endocrine system, Lipodystrophy, Arthrogryposis multiplex congenita ORPHA:79321
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Neutropenia, B lymphocytopenia, Intermittent throm... OMIM:150550
Combined Oxidative Phosphorylation Deficiency 54
Hyperglycemia, Obesity, Hypergonadotropic hypogonadism OMIM:619737
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Rimmed vacuoles, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe... OMIM:616924
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Hepatomegaly, Ascites ORPHA:2198
Hemochromatosis, Type 4
Cardiomyopathy, Glucose intolerance, Hepatic steatosis, Hepatomegaly, Cirrhosis, Anemia, Diabetes... OMIM:606069
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Insulin resistance, Precocious puberty, Insulin-resistant diabetes me... ORPHA:769
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Upper lim... ORPHA:353
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Rimmed vacuoles, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Muscle f... OMIM:300718
Osteogenesis Imperfecta, Type Xxiii
Insulin resistance, Truncal obesity OMIM:620639
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... OMIM:253700
Bethlem Myopathy 2
Increased variability in muscle fiber diameter, Flexion contracture, Scapular winging, Myopathy OMIM:616471
Immunodeficiency 22
Decreased circulating IgG level, Ascites, Decreased circulating IgA level, Decreased proportion o... OMIM:615758
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:612999
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Rimmed vacuoles, Increased variability in muscle fiber diameter, Quadriceps muscle weakness, Shou... OMIM:603689
Immunodeficiency 92
Persistent CMV viremia, Decreased circulating IgG level, Partial absence of specific antibody res... OMIM:619652
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Fatt... OMIM:613204
Immunodeficiency 43
Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r... OMIM:241600
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Abnormal heart morphology, Hypoglycemia ORPHA:231147
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Multiple Acyl-Coa Dehydrogenase Deficiency
Glycosuria, Hypoglycemia, Hepatic periportal necrosis, Hepatic steatosis, Neonatal death, Hepatom... OMIM:231680
Mitochondrial Pyruvate Carrier Deficiency
Hepatomegaly, Hypoglycemia OMIM:614741
Immunodeficiency, Common Variable, 8, With Autoimmunity
Recurrent otitis media, Pancytopenia, Autoimmune thrombocytopenia, Chronic neutropenia, Autoimmun... OMIM:614700
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Recurrent pneumonia, Recurrent viral infections, Absent natural ... ORPHA:35078
C3 Glomerulopathy
Lipodystrophy ORPHA:329918
Centrifugal Lipodystrophy
Alopecia, Absence of subcutaneous fat, Reduced subcutaneous adipose tissue, Lack of facial subcut... ORPHA:90156
Immunodeficiency, Common Variable, 14
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... OMIM:617765
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Lipodystrophy, Hypergonadotropic hypogonadism, Finger joint contracture OMIM:212112
Hydrops Fetalis
Generalized edema, Lymphedema, Ascites, Pleural effusion, Nonimmune hydrops fetalis, Polyhydramni... ORPHA:1041
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Cholestasis, Ascites, Cardiomegaly, Cardiac myxoma... ORPHA:615
Mu-Heavy Chain Disease
Anemia, Abnormal B cell count, Splenomegaly ORPHA:100024
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Anem... OMIM:226670
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Recurrent hypoglycemia OMIM:618158
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:610006
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Death in ... OMIM:611126
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia, Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase concen... OMIM:619386
Glycogen Storage Disease Ixa1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hypoglycemia OMIM:306000
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Abnormal B cell morphology, Recurrent otitis media, Agammaglobulinemia, Recurrent infections, Dec... OMIM:616910
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Increased variability in muscle fiber diameter, Myopathy, Proximal muscle weakness in lower limbs ORPHA:1878
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Ketotic hypoglycemia, Glycosuria, Failure to thrive ORPHA:2089
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatic failure, Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy... ORPHA:156
Lipodystrophy, Familial Partial, Type 7
Insulin resistance, Type I diabetes mellitus, Sparse scalp hair, Failure to thrive, Glucose intol... OMIM:606721
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Failure to thrive, Decreased response to growth hormone stimulation test, Panhypopituitarism, Hyp... OMIM:618922
Dyskeratosis Congenita, Autosomal Dominant 1
Bone marrow hypocellularity, Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leu... OMIM:127550
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Agammaglobulinemia, Absent circulating B cells, Decreased propor... OMIM:619705
Budd-Chiari Syndrome
Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Ascites, Portal h... ORPHA:131
Acrogeria
Lipoatrophy, Fine hair ORPHA:2500
Congenital Myopathy 18
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Fatty... OMIM:620246
Griscelli Syndrome
Bone marrow hypocellularity, Hepatitis, Ascites, Leukopenia, Splenomegaly, Thrombocytopenia, Hepa... ORPHA:381
Pituitary Hormone Deficiency, Combined, 2
Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal... OMIM:262600
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatic failure, Increased hepatic echogenicity, Hypoglycemia, Hepatic steatosis, Elevated circul... OMIM:261680
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia OMIM:604484
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre... OMIM:619374
Congenital Myopathy 6 With Ophthalmoplegia
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Congenital contrac... OMIM:605637
Immunodeficiency 12
Recurrent viral infections, Decreased lymphocyte proliferation in response to anti-CD3, Complete ... OMIM:615468
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Recurrent infections, Recurrent respiratory infections ORPHA:364
Childhood-Onset Nemaline Myopathy
Increased variability in muscle fiber diameter, Nemaline bodies, Cardiomyopathy, Generalized limb... ORPHA:171439
Tafro Syndrome
Anasarca, Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Pleural effusion, Hepatomegaly... ORPHA:457077
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Glycosuria, Pancreatic hypoplasia, Failure to thriv... ORPHA:99885
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10
Increased endomysial connective tissue, Increased variability in muscle fiber diameter, Skeletal ... OMIM:620542
H Syndrome
Alopecia, Hypertrichosis, Hypogonadism, Abnormal eyebrow morphology, Hepatosplenomegaly, Decrease... ORPHA:168569
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Recurrent otitis media, Recurrent lower respiratory tract infections, Recurrent streptococcal inf... ORPHA:183675
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopathy OMIM:618992
Congenital Myopathy 15
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Polyhydramnios,... OMIM:620161
Free Sialic Acid Storage Disease
Ascites, Splenomegaly, Aplasia/Hypoplasia of the abdominal wall musculature, Hepatomegaly, Hydrop... ORPHA:834
Congenital Multicore Myopathy With External Ophthalmoplegia
Increased variability in muscle fiber diameter, Muscular dystrophy, Nemaline bodies, Sternocleido... ORPHA:98905
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Hypoketotic hypo... OMIM:600649
Hypertriglyceridemia 1
Glucose intolerance OMIM:145750
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy, Hypoglycemia, D... ORPHA:42
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... ORPHA:86812
Necrotizing Enterocolitis
Abnormal heart morphology, Hyperglycemia, Ascites, Leukocytosis, Abnormal glucose homeostasis, Pe... ORPHA:391673
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Recurrent viral infections, Increased circulating IgE level, Lymphopenia,... ORPHA:443811
Fucosidosis
Failure to thrive, Abnormality of the gallbladder, Hypothyroidism, Hyperhidrosis, Hepatomegaly, L... ORPHA:349
Aggressive Systemic Mastocytosis
Decreased liver function, Ascites, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis,... ORPHA:98850
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent viral infections, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosple... ORPHA:169154
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia, Recurrent bacterial infections OMIM:300299
Bardet-Biedl Syndrome 9
Hyperglycemia, Obesity, Truncal obesity OMIM:615986
Purine Nucleoside Phosphorylase Deficiency
Recurrent upper respiratory tract infections, Recurrent viral infections, Decreased lymphocyte pr... OMIM:613179
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Failure to thrive, Hypoglycemia, Hypogonadism, Low anterior hairline, Low pos... ORPHA:73272
Cutis Laxa, Autosomal Recessive, Type Iia
Coarse hair, Failure to thrive, Inguinal hernia, Lipodystrophy, Brittle hair, Abnormality of hair... OMIM:219200
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:618138
Mitchell-Riley Syndrome
Annular pancreas, Pancreatic hypoplasia, Cholestasis, Hyperglycemia, Absent gallbladder, Biliary ... OMIM:615710
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter OMIM:302045
Combined Oxidative Phosphorylation Deficiency 47
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Dehydration, Hypoglycemia OMIM:618958
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Death in childhood, Death in infancy, Neonatal death OMIM:614096
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit... ORPHA:53035
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased serum testosterone concentration, Hyperglycemia, Portal hypertension, Splenomegaly, Hyp... ORPHA:465508
Vipoma
Follicular thyroid carcinoma, Increased circulating cortisol level, Increased circulating prolact... ORPHA:97282
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:276152
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Reduced natural killer cell count, Decreased circulating ... OMIM:619510
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Elevated circulating hepatic transaminase concentration, ... ORPHA:79124
Combined Oxidative Phosphorylation Deficiency 36
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:617950
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Neonatal hypoglycemia, Hypoglycemia ORPHA:231140
Congenital Myopathy 1B, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:255320
Agammaglobulinemia, X-Linked
Enteroviral dermatomyositis syndrome, Recurrent otitis media, Neutropenia, Recurrent lower respir... OMIM:300755
Klippel-Trénaunay Syndrome
Cellulitis, Microcytic anemia, Ascites, Abnormal tricuspid valve morphology, Atrial septal defect... ORPHA:90308
Leukodystrophy, Hypomyelinating, 24
B lymphocytopenia OMIM:619851
Cimdag Syndrome
Cholelithiasis, Hypogonadism, Microvesicular hepatic steatosis, Lipodystrophy, Hepatomegaly OMIM:619273
Cardiomyopathy, Dilated, 1X
Increased variability in muscle fiber diameter, Calf muscle hypertrophy OMIM:611615
Propionic Acidemia
Hypoglycemia, Cardiomyopathy, Pancytopenia, Hepatomegaly, Limb hypertonia, Pancreatitis, Neutrope... OMIM:606054
Autoimmune Hepatitis
Elevated circulating hepatic transaminase concentration, Viral hepatitis, Increased circulating I... ORPHA:2137
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections, Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatocellular necrosis, Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Aniso... OMIM:618278
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Hypoglycemia, Ankle flexion contracture, Dilated cardiomyopathy, Rhabdomyolysis OMIM:618120
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Decreased hepatic echogenicity, Increased variability in muscle fiber diameter, Elevated circulat... OMIM:613752
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Breast hypoplasia, Hyperinsulinemia, Glucose intoleranc... ORPHA:785
Mpi-Cdg
Hepatic fibrosis, Failure to thrive, Portal hypertension, Hypothyroidism, Hyperinsulinemic hypogl... ORPHA:79319
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Severe X-Linked Mitochondrial Encephalomyopathy
Increased connective tissue, Increased variability in muscle fiber diameter, Skeletal muscle atrophy ORPHA:238329
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin resistance, Alopecia, Abnormal hair morphology, Generalized lipodystrophy, Nail dystrophy... ORPHA:90154
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620138
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Obesity, Decreased cervical spine flexion due to contractures of poste... ORPHA:98855
Non-Acquired Isolated Growth Hormone Deficiency
Decreased muscle mass, Delayed puberty, Prolonged neonatal jaundice, Neonatal hypoglycemia, Anter... ORPHA:631
Autosomal Dominant Severe Congenital Neutropenia
Recurrent viral infections, Aplastic anemia, Lymphopenia, Recurrent infection of the gastrointest... ORPHA:486
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:617072
Combined Malonic And Methylmalonic Acidemia
Elevated circulating hepatic transaminase concentration, Dehydration, Hypoglycemia ORPHA:289504
Glycogen Storage Disease Xii
Normocytic anemia, Increased variability in muscle fiber diameter, Cholelithiasis, Splenomegaly, ... OMIM:611881
Proteasome-Associated Autoinflammatory Syndrome 3
Failure to thrive, Splenomegaly, Lipodystrophy, Hepatomegaly, Flexion contracture, Panniculitis OMIM:617591
Desmoplastic Small Round Cell Tumor
Ascites, Hepatomegaly, Abnormal peritoneum morphology, Anemia, Neoplasm of the pancreas ORPHA:83469
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Glycosuria, Failure to thrive, Abnormal hepatic glycogen storage, Inc... ORPHA:2088
Solitary Fibrous Tumor
Hypoglycemia, Recurrent hypoglycemia, Pelvic mass, Neoplasm of the liver, Abnormal peritoneum mor... ORPHA:2126
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:611705
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:617066
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Skeletal muscle atrophy, Elevated circulating hepatic transami... ORPHA:264580
Mulibrey Nanism
Ascites, Cardiomegaly, Enamel hypoplasia, Pericardial constriction, Hepatomegaly, Hydrops fetalis... OMIM:253250
Mehmo Syndrome
Decreased response to growth hormone stimulation test, Male hypogonadism, Delayed puberty, Hypogl... OMIM:300148
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Atrial septal defect, Elevated circulating hepatic transaminase concentration, Decreased liver fu... OMIM:615160
Oculopharyngodistal Myopathy 4
Rimmed vacuoles, Increased variability in muscle fiber diameter, Weakness of facial musculature, ... OMIM:619790
Glucocorticoid Deficiency 1
Recurrent hypoglycemia, Abnormal circulating aldosterone, Increased circulating ACTH level, Abnor... OMIM:202200
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Generalized edema, Ascites, Hepatomegaly, Iron deficiency anemia, Thrombocytosis, Anemia, Edema OMIM:226300
Pyruvate Dehydrogenase E3 Deficiency
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Cardiomyo... ORPHA:2394
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Recurre... OMIM:613860
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Hypoglycemia OMIM:620137
Placental Insufficiency
Insulin resistance, Small for gestational age ORPHA:439167
X-Linked Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Obesity, Decreased cervical spine flexion due to contractures of poste... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Obesity, Decreased cervical spine flexion due to contractures of poste... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Obesity, Decreased cervical spine flexion due to contractures of poste... ORPHA:98853
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cholestatic liver disease, Hypoglycemia, Hypertrophic cardiomyopathy, Hypoketotic hypoglycemia, H... ORPHA:5
Somatostatinoma
Increased circulating cortisol level, Increased circulating prolactin concentration, Elevated cir... ORPHA:97283
Congenital Disorder Of Glycosylation, Type Iiaa
Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ... OMIM:620454
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Hepatosplenomegaly, Panniculitis, Complete or near-complete abse... OMIM:301081
Congenital Myopathy 10A, Severe Variant
Increased variability in muscle fiber diameter, Camptodactyly of finger, Muscle fiber necrosis, F... OMIM:614399
Omenn Syndrome
Recurrent viral infections, Splenomegaly, Recurrent bacterial infections, Hypoplasia of the thymu... OMIM:603554
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Elevated circulating hepatic transaminase concentration, Hypoglycemia, C... OMIM:212138
X-Linked Acrogigantism
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... ORPHA:300373
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Restrictive cardiomyopathy, Decreased lymphocyte proliferation... OMIM:619313
Tempi Syndrome
Ascites, Increased hematocrit, Polycythemia, Transudative pleural effusion ORPHA:284227
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypoglycemia, Hypogonadotropic hypogonadism, Finger joint contracture, Acute rhabdomyolysis, Flex... ORPHA:48431
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, Recurrent upper respiratory tract infections, Absent natural killer cells, Decr... OMIM:600802
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Ventricular hypertrophy, Hepatic failure, Elevated circulating hepatic transaminase concentration... ORPHA:228305
Alg8-Cdg
Elevated circulating hepatic transaminase concentration, Ascites, Oligohydramnios, Camptodactyly,... ORPHA:79325
Graft Versus Host Disease
Failure to thrive, Fasciitis, Hepatosplenomegaly, Dupuytren contracture, Lipodystrophy, Chronic h... ORPHA:39812
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Increased variability in muscle fiber diameter, Muscular dystrophy, Increased endomysial connecti... OMIM:613157
Congenital Myopathy 20
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... OMIM:620310
Primary Sclerosing Cholangitis
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... ORPHA:171
Pituitary Hormone Deficiency, Combined, 6
Ectopic posterior pituitary, Hypoglycemia, Decreased circulating ACTH concentration, Posterior pi... OMIM:613986
2P21 Microdeletion Syndrome
Hypoglycemia ORPHA:163693
Infantile Liver Failure Syndrome 2
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Hypoglycemia, Acute hepa... OMIM:616483
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia, Recurrent bacterial infections ORPHA:86788
Eosinophilic Gastroenteritis
Ascites, Leukocytosis, Eosinophilia, Anemia, Edema ORPHA:2070
Pyruvate Carboxylase Deficiency
Hepatomegaly, Hypoglycemia OMIM:266150
Proteasome-Associated Autoinflammatory Syndrome 4
Generalized lipodystrophy, Splenomegaly, Hepatomegaly, Flexion contracture, Panniculitis OMIM:619183
Ullrich Congenital Muscular Dystrophy
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle... ORPHA:75840
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Reduced natural killer cell count, Recurrent viral infections, Decreased circulating total IgG, D... ORPHA:221139
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Skeletal muscle atrophy, Hypoglycemia, Elevated circulating aspartate aminotransferase concentrat... OMIM:245400
Immunodeficiency 23
Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Molluscum contagiosum, Lymph... OMIM:615816
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hypoglycemia, Cardiomyopathy, Leukopenia, Pancreatitis, Neutropenia, Thrombocytopenia, Hepatomega... OMIM:251000
Acth Deficiency, Isolated
Cholestasis, Decreased circulating cortisol level, Adrenocorticotropic hormone deficiency, Adrena... OMIM:201400
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Failure to thrive in infancy, Panniculitis, Lipodystrophy OMIM:617099
Hsd10 Mitochondrial Disease
Hypertrophic cardiomyopathy, Hypoglycemia OMIM:300438
Ovarian Fibroma
Ascites, Peritonitis, Pleural effusion, Mesenteric cyst ORPHA:314473
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Recurrent upper respiratory tract infection... OMIM:602450
Specific Granule Deficiency 2
Recurrent pneumonia, Sepsis, Recurrent otitis media, Recurrent bacterial infections, Absent neutr... OMIM:617475
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Ascites... OMIM:115197
Leprechaunism
Postprandial hyperglycemia, Insulin resistance, Facial hypertrichosis, Central hypothyroidism, Fa... ORPHA:508
Oculopharyngeal Muscular Dystrophy
Rimmed vacuoles, Ragged-red muscle fibers, Myopathy, Abnormal muscle fiber morphology ORPHA:270
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Cholestas... OMIM:617156
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Skeletal muscle atroph... ORPHA:79240
Atypical Werner Syndrome
Insulin-resistant diabetes mellitus, Premature graying of hair, Abnormal hair morphology, Hypergl... ORPHA:79474
X-Linked Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Weakness of facial musculature, Type 1 fibers relativ... ORPHA:596
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal amyotrophy, Skeletal... OMIM:614302
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Spinal muscular atrophy,... OMIM:616867
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Failure to thrive, Hypoglycemia OMIM:615453
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Adrenocortical adenoma ORPHA:681
Long-Olsen-Distelmaier Syndrome
Dilated cardiomyopathy, Secundum atrial septal defect, Hypoglycemia, Elevated circulating asparta... OMIM:620609
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Coarse hair, Failure to thrive, Inguinal hernia, Abnormal subcutaneous fat tissue distribution, L... ORPHA:357074
Becker Nevus Syndrome
Lipoatrophy, Supernumerary nipple ORPHA:64755
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypertrophic cardiomyopathy, Hypoglycemia OMIM:618241
Mirage Syndrome
Sepsis, Hypoglycemia, Recurrent urinary tract infections, Lymphopenia, Leukopenia, Adrenal insuff... OMIM:617053
Gaucher Disease Type 1
Splenic infarction, Cholelithiasis, Hepatic failure, Ascites, Hepatosplenomegaly, Pancytopenia, H... ORPHA:77259
Leigh Syndrome, Nuclear
Hepatocellular necrosis OMIM:256000
Cirrhosis, Familial
Biliary cirrhosis, Micronodular cirrhosis, Ascites, Cirrhosis, Jaundice, Fulminant hepatitis OMIM:215600
Isolated Sedoheptulokinase Deficiency
Postprandial hyperglycemia, Cholestatic liver disease, Hepatitis, Cholestasis, Portal hypertensio... ORPHA:440713
Cole Disease
Abnormal hair morphology, Hyperglycemia OMIM:615522
Glycogen Storage Disease Of Heart, Lethal Congenital
Anasarca, Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Ascites, Periph... OMIM:261740
Seckel Syndrome 10
Insulin resistance, Acute pancreatitis, Elevated circulating luteinizing hormone level, Glycosuri... OMIM:617253
Histidinuria-Renal Tubular Defect Syndrome
Hypoglycemia ORPHA:2158
Pseudomyxoma Peritonei
Hernia, Ascites, Abnormal peritoneum morphology ORPHA:26790
Glycogen Storage Disease Vii
Increased variability in muscle fiber diameter, Cholelithiasis, Increased muscle glycogen content... OMIM:232800
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Decreased circulating IgG level, Pancytopenia, Decreased ... OMIM:618394
Congenital Myopathy 3 With Rigid Spine
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:602771
Congenital Myopathy 10B, Mild Variant
Minicore myopathy, Increased variability in muscle fiber diameter, Rimmed vacuoles, Increased end... OMIM:620249
Blue Diaper Syndrome
Increased proinsulin:insulin ratio, Recurrent hypoglycemia ORPHA:94086
Lymphatic Malformation 6
Cellulitis, Facial edema, Generalized edema, Chylothorax, Lymphedema, Ascites, Pleural effusion, ... OMIM:616843
Myopathy, Myofibrillar, 7
Increased variability in muscle fiber diameter, Nemaline bodies, Type 2 muscle fiber predominance... OMIM:617114
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Dilated cardio... OMIM:614921
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Nemaline bodies, Joint contracture of the hand, Skeletal muscle atrophy, Increased endomysial con... OMIM:620278
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated circulating thyroid-stimulating hormone concentration, Failure to thrive, Premature gray... OMIM:256040
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Type II diabetes mellitus, Truncal obesity, Abdominal obesity OMIM:615812
Immunodeficiency 31A
BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim... OMIM:614892
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypoglycemia OMIM:201910
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hepatic steatosis, Hepatom... OMIM:201450
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Death in infancy, Neonatal hypoglycemia, Splenomegaly, Macrocytic anemia OMIM:619046
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:613954
Congenital Analbuminemia
Obesity, Lipodystrophy, Small for gestational age ORPHA:86816
Aicardi-Goutieres Syndrome 9
Acute pancreatitis, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, As... OMIM:619487
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis OMIM:613779
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Restrictive cardiomyopathy, Dilated cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardi... OMIM:619424
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre... OMIM:618484
Osteopetrosis, Autosomal Recessive 5
Hepatic failure, Stillbirth, Extramedullary hematopoiesis, Ascites, Hepatosplenomegaly, Pancytope... OMIM:259720
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis OMIM:613796
Silver-Russell Syndrome
Insulin resistance, Premature adrenarche, Precocious puberty, Recurrent hypoglycemia, Failure to ... ORPHA:813
Hypoadrenocorticism, Familial
Hypoglycemia OMIM:240200
Alstrom Syndrome
Alopecia, Insulin-resistant diabetes mellitus, Decreased response to growth hormone stimulation t... OMIM:203800
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Intrahepatic cholestasis, Glycosuria, Failure to thrive, Reduced subc... OMIM:227810
Smith-Kingsmore Syndrome
Hypoglycemia, Decreased circulating IgA level, Thrombocytopenia OMIM:616638
Congenital Isolated Acth Deficiency
Adrenocorticotropin deficient adrenal insufficiency, Hepatitis, Prolonged neonatal jaundice, Decr... ORPHA:199296
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Skeletal muscle atrophy, Hypoglycemia, Cardiomyopathy, Limb hypertonia, Thrombocytopenia, General... OMIM:617710
Post-Traumatic Pituitary Deficiency
Hypoglycemia, Decreased response to growth hormone stimulation test, Panhypopituitarism, Decrease... ORPHA:95619
Malignant Peritoneal Mesothelioma
Ascites, Peritonitis, Pedal edema ORPHA:168811
Glucocorticoid Resistance, Generalized
Increased circulating cortisol level, Hypoglycemia, Increased circulating ACTH level, Increased c... OMIM:615962
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alp... OMIM:603909
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Neonatal sepsis, Recurrent infections, Hypoglycemia OMIM:614739
Dengue Fever
Hepatomegaly, Leukopenia, Ascites, Thrombocytopenia ORPHA:99828
Glucagonoma
Intrahepatic cholestasis, Pituitary adenoma, Increased circulating cortisol level, Subcutaneous l... ORPHA:97280
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Acute hepatic fa... ORPHA:99901
Methylmalonic Aciduria, Cblb Type
Dilated cardiomyopathy, Hypoglycemia, Pancytopenia, Hepatomegaly, Neutropenia, Thrombocytopenia, ... OMIM:251110
Gaucher Disease, Perinatal Lethal
Hepatic failure, Ascites, Hepatosplenomegaly, Polyhydramnios, Splenomegaly, Neonatal death, Nonim... OMIM:608013
Immunodeficiency 17
Abnormal B cell morphology, Decreased proportion of CD8-positive T cells, Recurrent otitis media,... OMIM:615607
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Central hypothyroidism, Hypoglycemia, Hypogonadotropic hypogonadism, Ab... OMIM:616113
Senior-Boichis Syndrome
Malformation of the hepatic ductal plate, Hepatic fibrosis, Elevated circulating hepatic transami... ORPHA:84081
Pyridoxine-Dependent Epilepsy
Hypoglycemia ORPHA:3006
Combined Oxidative Phosphorylation Deficiency 5
Ascites, Edema, Death in infancy OMIM:611719
Acute Liver Failure
Elevated circulating hepatic transaminase concentration, Hepatitis, Hypoglycemia, Hepatocellular ... ORPHA:90062
Congenital Disorder Of Glycosylation, Type Ib
Hepatic fibrosis, Failure to thrive, Cirrhosis, Hyperinsulinemic hypoglycemia, Hepatomegaly OMIM:602579
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Thrombocytopenia, Neutropenia, Recurrent bacterial infections... OMIM:603585
Pseudo-Torch Syndrome 2
Elevated circulating hepatic transaminase concentration, Ascites, Pleural effusion, Thrombocytope... OMIM:617397
Malonyl-Coa Decarboxylase Deficiency
Left ventricular noncompaction cardiomyopathy, Dilated cardiomyopathy, Hypoglycemia OMIM:248360
Immunodeficiency 87 And Autoimmunity
Cholestasis, Lymphopenia, Decreased CD4:CD8 ratio, Biventricular hypertrophy, Hepatic steatosis, ... OMIM:619573
Cirrhotic Cardiomyopathy
Ascites, Peripheral edema, Cardiomegaly, Left atrial enlargement, Left ventricular hypertrophy, C... ORPHA:57777
Reni Syndrome
Hypoglycemia, Hypogonadism, Lymphopenia, Adrenal insufficiency, Hypothyroidism OMIM:617575
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Ascites, Pleural effusion, Ventricular septal defect, Cardiomegaly, ... OMIM:616897
Silver-Russell Syndrome 2
Neonatal hypoglycemia OMIM:618905
Pediatric Systemic Lupus Erythematosus
Microangiopathic hemolytic anemia, Ascites, Lymphopenia, Leukopenia, Pleural effusion, Myositis, ... ORPHA:93552
Ectodermal Dysplasia And Immunodeficiency 1
Molluscum contagiosum, Reduced natural killer cell activity, Abnormal circulating IgG level, Dysg... OMIM:300291
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells OMIM:611926
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Hypoglycemia, Abnormal circulating aldosterone, Increased circulating ACTH le... OMIM:614736
Leukocyte Adhesion Deficiency, Type Iii
Sepsis, Extramedullary hematopoiesis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Recurrent b... OMIM:612840
Perlman Syndrome
Visceromegaly, Hypoglycemia, Ascites, Congenital diaphragmatic hernia, Pancreatic islet-cell hype... OMIM:267000
Ovarian Fibrothecoma
Ascites, Pleural effusion, Peritonitis, Increased serum testosterone level, Abnormal circulating ... ORPHA:314478
Pyridoxal Phosphate-Responsive Seizures
Hypoglycemia, Pyridoxine-responsive sideroblastic anemia ORPHA:79096
Ataxia-Telangiectasia
Decreased circulating IgG level, Female hypogonadism, Defective B cell differentiation, Lymphopen... OMIM:208900
Hypocomplementemic Urticarial Vasculitis
Angioedema, Abnormal heart valve morphology, Ascites, Pleural effusion, Splenomegaly, Hepatomegal... ORPHA:36412
Farber Disease
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Skele... ORPHA:333
Glucocorticoid Deficiency 2
Recurrent pneumonia, Hypoglycemia, Recurrent hypoglycemia, Increased circulating ACTH level, Decr... OMIM:607398
De Barsy Syndrome
Failure to thrive, Umbilical hernia, Inguinal hernia, Cryptorchidism, Lipodystrophy, Sparse hair ORPHA:2962
Tyrosinemia, Type I
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Acute hep... OMIM:276700
Beta-Ketothiolase Deficiency
Hepatomegaly, Hyperglycemia, Weight loss, Hypoglycemia ORPHA:134
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Predominantly lower limb lymphedema, Ascites, Pleural effusion, Palpebral edema, Hydrops fetalis ORPHA:69735
Marbach-Rustad Progeroid Syndrome
Insulin resistance, Reduced subcutaneous adipose tissue OMIM:619322
Mitochondrial Trifunctional Protein Deficiency 2
Dilated cardiomyopathy, Hypoglycemia, Elevated circulating aspartate aminotransferase concentrati... OMIM:620300
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:616812
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Neutrophilia, Recurrent viral infections, Increased circulating IgE level, Leukocytosis, Autoimmu... OMIM:620565
Nestor-Guillermo Progeria Syndrome
Alopecia, Sparse eyebrow, Failure to thrive, Decreased serum leptin, Nail dystrophy, Sparse eyela... OMIM:614008
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased variability in muscle fiber diameter, Increased intramyocellular lipid droplets OMIM:619065
Short Stature, Microcephaly, And Endocrine Dysfunction
Insulin resistance, Inguinal hernia, Cryptorchidism, Hypothyroidism, Truncal obesity, Sparse hair... OMIM:616541
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Hyperglycemia, Hypothyroidism ORPHA:90065
Bangstad Syndrome
Primary gonadal insufficiency, Small for gestational age, Insulin-resistant diabetes mellitus, Go... OMIM:210740
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell count, Recurrent pneumonia, Enlarged platelet dense granules, Recurre... OMIM:608233
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Hypoglycemia, Polysplenia, Exocrine pancreatic insuf... OMIM:619418
Mitochondrial Trifunctional Protein Deficiency 1
Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Cholestasis, Ele... OMIM:609015
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Increased variability in muscle fiber diameter, Increased intramy... OMIM:617228
Mitochondrial Complex I Deficiency, Nuclear Type 33
Oligohydramnios, Neutropenia, Hypoglycemia OMIM:618253
Tenorio Syndrome
Hypoinsulinemia, Recurrent pneumonia, Hypoglycemia OMIM:616260
Timothy Syndrome
Hypoglycemia, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Cardiomegaly,... OMIM:601005
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent mycobacterial infections, Recurrent Klebsiella infections, Recurrent candida infections... ORPHA:319552
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Hypoglycemia ORPHA:231137
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Myopathy, Ventricular septal defect OMIM:616816
Alg12-Cdg
Recurrent pneumonia, Sepsis, Recurrent hypoglycemia, Abnormal circulating IgM level, Complete or ... ORPHA:79324
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... ORPHA:486815
Ullrich Congenital Muscular Dystrophy 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Facial palsy, Flexion contrac... OMIM:616470
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Hypoglycemia, El... OMIM:608836
Temple Syndrome
Type II diabetes mellitus, Recurrent hypoglycemia ORPHA:254516
Peripheral Primitive Neuroectodermal Tumor
Lower limb muscle weakness, Pelvic mass, Ascites, Pancreatitis, Torticollis, Anemia, Jaundice, Ne... ORPHA:370348
Aromatase Deficiency
Insulin resistance, Obesity, Type II diabetes mellitus, Hepatic steatosis, Eunuchoid habitus, Cry... ORPHA:91
Myopathic Ehlers-Danlos Syndrome
Increased variability in muscle fiber diameter, Joint contracture of the hand, Ankle flexion cont... ORPHA:536516
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Nemaline bodies, Hypoglycemia, Elbow contracture, Umbilical hernia, Inguinal hernia OMIM:620275
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Elevated circulating aspar... OMIM:605911
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Type I diabetes mellitus, Sepsis, Pituitary adenoma, Graves disease, Hypoglyce... ORPHA:199299
Lymphatic Malformation 8
Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Stillbirth, Polyhydramnios, Peric... OMIM:618773
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... OMIM:233710
Adams-Oliver Syndrome
Tetralogy of Fallot, Ascites, Leukopenia, Portal hypertension, Abnormal pulmonary valve morpholog... ORPHA:974
Congenital Sialidosis Type 2
Umbilical hernia, Abnormal heart morphology, Ascites, Hepatosplenomegaly, Inguinal hernia, Hepato... ORPHA:93400
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated circulating hepatic transaminase concentration, Glycosuria, Hypoglycemia, Hepatomegaly, ... OMIM:616026
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Increased variability in muscle fiber diameter, Generalized amyotrophy, Secundum atrial septal de... OMIM:616866
Aromatic L-Amino Acid Decarboxylase Deficiency
Hypoglycemia, Increased circulating prolactin concentration, Limb hypertonia, Joint contracture ORPHA:35708
Heart Defects, Congenital, And Other Congenital Anomalies
Glycosuria, Pancreatic hypoplasia, Umbilical hernia, Failure to thrive, Hyperglycemia, Absent gal... OMIM:600001
Keppen-Lubinsky Syndrome
Failure to thrive, Decreased testicular size, Loss of facial adipose tissue, Congenital generaliz... ORPHA:435628
Congenital Myopathy 22B, Severe Fetal
Hypoplasia of the musculature, Shoulder flexion contracture, Elbow flexion contracture, Ascites, ... OMIM:620369
Keppen-Lubinsky Syndrome
Failure to thrive, Generalized lipodystrophy, Absence of subcutaneous fat, Lack of facial subcuta... OMIM:614098
Myopathy With Lactic Acidosis, Hereditary
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Sideroblastic anemia, Le... OMIM:255125
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent mycobacterial infections, Recurrent viral infections, Sepsis, Splenomegaly, Recurrent f... ORPHA:169090
Primary Hepatic Neuroendocrine Carcinoma
Increased serum serotonin, Elevated circulating hepatic transaminase concentration, Neuroendocrin... ORPHA:100085
Ppoma
Intrahepatic cholestasis, Cholelithiasis, Intestinal carcinoid, Pituitary adenoma, Increased circ... ORPHA:97278
Gracile Bone Dysplasia
Ascites, Asplenia, Hypoplastic spleen, Death in infancy OMIM:602361
Proximal Myopathy With Extrapyramidal Signs
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Centr... ORPHA:401768
Congenital Myopathy 4A, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Type 1 fibers relatively smal... OMIM:255310
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatic failure, Lymphedema, Pancreatic lymphangiectasis, Ascites, Polyhydramnios, Splenomegaly, ... OMIM:235255
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Hypoglycemia, Hypothyroidism, Atrial septal defect, Neutropenia, Joint contracture, Polyhydramnios OMIM:618005
Primary Biliary Cholangitis
Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Ascites, Abnormality of the thyr... ORPHA:186
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... OMIM:233690
Reynolds Syndrome
Xerostomia, Ascites, Cirrhosis, Hepatomegaly, Jaundice ORPHA:779
Premature Aging Syndrome, Penttinen Type
Keloids, Elevated circulating thyroid-stimulating hormone concentration, Failure to thrive, Flexi... OMIM:601812
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran... OMIM:255120
Dilated Cardiomyopathy With Ataxia
Diaphragmatic eventration, Elevated circulating hepatic transaminase concentration, Dilated cardi... ORPHA:66634
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Intrahepatic cholestasis, Hepatic fibrosis, Hypoglycemia, Decreased liver function, Elevated circ... OMIM:617093
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, Abnormal natural killer cell morphology, B lymphocytopenia OMIM:615966
Retinitis Pigmentosa
Hypogonadism, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Abnormal testis morphology ORPHA:791
Cog8-Cdg
Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy, Hypoglycemia ORPHA:95428
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Recurrent pneumoni... OMIM:607143
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Lipodystrophy ORPHA:300751
Wilson Disease
Acute hepatic failure, Limb muscle weakness, Hepatic steatosis, Cirrhosis, Elevated circulating a... OMIM:277900
3-Methylglutaconic Aciduria Type 7
Bone marrow hypocellularity, Infection associated neutropenia, Elevated circulating hepatic trans... ORPHA:445038
Mucopolysaccharidosis Type 7
Hepatitis, Lymphedema, Umbilical hernia, Ascites, Splenomegaly, Inguinal hernia, Hydrops fetalis ORPHA:584
Congenital Myopathy 22A, Classic
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620351
Dyskeratosis Congenita, Autosomal Recessive 8
Reduced natural killer cell count, Bone marrow hypocellularity, Pancytopenia, B lymphocytopenia OMIM:620133
Combined Oxidative Phosphorylation Deficiency 19
Increased variability in muscle fiber diameter, Elevated circulating aspartate aminotransferase c... OMIM:615595
Typical Nemaline Myopathy
Increased variability in muscle fiber diameter, Nemaline bodies, Facial diplegia, Foot dorsiflexo... ORPHA:171436
Marfanoid-Progeroid-Lipodystrophy Syndrome
Generalized lipodystrophy, Lipoatrophy, Reduced subcutaneous adipose tissue, Absence of subcutane... OMIM:616914
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hyperinsulinemia, Hypoglycemia ORPHA:230
Vici Syndrome
Decreased circulating IgG level, Cutaneous anergy, Recurrent viral infections, Chronic mucocutane... OMIM:242840
Bardet-Biedl Syndrome 1
Insulin resistance, Hepatic fibrosis, Hypogonadism, Decreased testicular size, Obesity, Abnormali... OMIM:209900
Laron Syndrome
Abnormality of the endocrine system, Delayed puberty, Hypoglycemia ORPHA:633
Carnitine-Acylcarnitine Translocase Deficiency
Hepatic failure, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Hypoket... ORPHA:159
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent upper respiratory tract infections, Sepsis, Recurrent urinary tract infections, Lymphop... OMIM:612541
Maple Syrup Urine Disease, Type Ia
Cerebral edema, Pancreatitis, Hypoglycemia OMIM:248600
Hypotonia-Cystinuria Syndrome
Decreased response to growth hormone stimulation test, Ragged-red muscle fibers, Facial palsy, Ne... OMIM:606407
Ullrich Congenital Muscular Dystrophy 1A
Increased variability in muscle fiber diameter, Muscular dystrophy, Type 1 muscle fiber predomina... OMIM:254090
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Camptodactyly of finger, Ascites, Mitral valve prolapse, Camptodactyly of toe, Pericarditis ORPHA:2848
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Hypoglycemia, Dorsocervical fat pad, Hypothyroidism, Delayed puberty, Diabetes mellitus ORPHA:391408
Houge-Janssens Syndrome 1
Facial hypotonia, Hypoglycemia, Congenital muscular torticollis OMIM:616355
Grfoma
Increased circulating cortisol level, Increased circulating prolactin concentration, Elevated cir... ORPHA:97261
Immunodeficiency 47
Accessory spleen, Normocytic anemia, Decreased circulating total IgG, Chronic decreased circulati... OMIM:300972
Congenital Enterovirus Infection
Hepatic failure, Fetal ascites, Hepatitis, Cholestasis, Leukopenia, Leukocytosis, Abnormal macrop... ORPHA:292
Whipple Disease
Insulin resistance, Splenomegaly, Cachexia, Hypothyroidism, Hepatomegaly ORPHA:3452
Lymphatic Malformation 12
Fetal ascites, Lymphedema, Nonimmune hydrops fetalis, Neonatal death, Death in adolescence, Polyh... OMIM:620014
Fructose-1,6-Bisphosphatase Deficiency
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hepatic steatosis, Fasting... ORPHA:348
Monosomy 13Q34
Insulin resistance, Obesity, Horizontal eyebrow, Hepatic steatosis ORPHA:96168
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Death in childhood, ... OMIM:246450
Alg9-Cdg
Periportal fibrosis, Hypertrichosis, Hepatic cysts, Low posterior hairline, Hypoplastic nipples, ... ORPHA:79328
3-Hydroxy-3-Methylglutaric Aciduria
Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Dehydration, Rec... ORPHA:20
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Rimmed vacuoles, Increased variability in muscle fiber diameter, Cardiomyopathy, Hepatic steatosi... ORPHA:52430
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Alopecia, Breast aplasia, Abnormal eyebrow morphology, Absent eyelashes, Flex... ORPHA:90153
Shwachman-Diamond Syndrome
Recurrent viral infections, Aplastic anemia, Hypopituitarism, Pancytopenia, Impaired neutrophil c... ORPHA:811
Shigellosis
Hepatic failure, Hypoglycemia, Microangiopathic hemolytic anemia, Cholestasis, Leukocytosis, Absc... ORPHA:810
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Cardiomyopathy, Muscle f... OMIM:258450
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated circulating hepatic transaminase concentration, Anasarca, Hypoglycemia, Decreased liver ... OMIM:613658
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Fasting hypoglycemia ORPHA:436174
Diarrhea 10, Protein-Losing Enteropathy Type
Elevated circulating thyroid-stimulating hormone concentration, Anasarca, Ascites, Pleural effusi... OMIM:618183
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Alopecia, Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Incre... ORPHA:189427
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Insulin resistance, Precocious puberty, Premature adrenarche, Failure to thrive, Decreased respon... ORPHA:96182
Functioning Gonadotropic Adenoma
Pituitary gonadotropic cell adenoma, Decreased response to growth hormone stimulation test, Panhy... ORPHA:91348
3-Methylglutaconic Aciduria, Type Viib
Leukopenia, Hepatic steatosis, Thrombocytopenia, Neutropenia, Polyhydramnios, Flexion contracture... OMIM:616271
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Aplasia of... OMIM:242700
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Generalized amyotrophy, Hepatic failure, Skeletal muscle atrophy, Micronodular cirrhosis, Ascites... OMIM:301072
Congenital Disorder Of Glycosylation, Type Iie
Skeletal muscle atrophy, Secundum atrial septal defect, Hypoglycemia, Decreased liver function, E... OMIM:608779
Bloom Syndrome
Insulin resistance, Sparse eyelashes, Adipose tissue loss, Patchy alopecia, Abdominal obesity, Di... ORPHA:125
Dend Syndrome
Hyperglycemia ORPHA:79134
Whim Syndrome
Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Abnormal neutrophil mo... ORPHA:51636
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Increased variability in muscle fiber diameter, Myopathy OMIM:125250
Glycogen Storage Disease Ia
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Decreased muscle mass, Pan... OMIM:232200
Prader-Willi Syndrome
Precocious puberty, Class III obesity, Decreased response to growth hormone stimulation test, Fai... OMIM:176270
Lysosomal Acid Lipase Deficiency
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Decre... ORPHA:275761
Multiple Endocrine Neoplasia, Type I
Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Hypoglycemia, Subcutane... OMIM:131100
Liver Disease, Severe Congenital
Portal inflammation, Dilatation of the ventricular cavity, Hepatic steatosis, Ventricular septal ... OMIM:619991
Leukocyte Adhesion Deficiency, Type I
Chronic mucocutaneous candidiasis, Leukocytosis, Recurrent gram-negative bacterial infections, Re... OMIM:116920
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Hypoglycemia OMIM:229700
Gitelman Syndrome
Insulin resistance, Type I diabetes mellitus, Chondrocalcinosis, Graves disease, Failure to thriv... ORPHA:358
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Hypopituitarism, Decreased circulating T4 concentration, Prolonged n... ORPHA:226307
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly, Hypoglycemia ORPHA:391428
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatic failure, Pancreatic lymphangiectasis, Ascites, Hepatosplenomegaly, Polyhydramnios, Spleno... ORPHA:1655
Gallbladder Neuroendocrine Tumor
Biliary tract neoplasm, Ascites, Cholecystitis, Intermittent jaundice, Biliary tract obstruction,... ORPHA:100086
Familial Glucocorticoid Deficiency
Precocious puberty, Abnormal circulating adrenocorticotropin concentration, Decreased circulating... ORPHA:361
Granulomatous Disease, Chronic, X-Linked
Cellulitis, Granuloma, Ascites, Impaired oxidative burst, Pleural effusion, Splenomegaly, Granulo... OMIM:306400
Barber-Say Syndrome
Sparse eyebrow, Absent nipple, Hypertrichosis, Cryptorchidism, Low anterior hairline, Sparse eyel... OMIM:209885
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Hypoketotic hypo... ORPHA:26793
Mitochondrial Trifunctional Protein Deficiency
Lower limb muscle weakness, Cardiomyopathy, Cholestasis, Hypoketotic hypoglycemia, Rhabdomyolysis... ORPHA:746
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Myopathy, Fatty repla... ORPHA:397744
Silver-Russell Syndrome Due To A Point Mutation
Oligohydramnios, Hypothyroidism, Inguinal hernia, Hypoglycemia ORPHA:397590
Combined Oxidative Phosphorylation Deficiency 59
Hypertrophic cardiomyopathy, Cerebral edema, Ketotic hypoglycemia, Cholelithiasis OMIM:620646
Lmna-Related Cardiocutaneous Progeria Syndrome
Alopecia universalis, Pulmonary carcinoid tumor, Premature graying of hair, Absent eyelashes, Abn... ORPHA:363618
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Recur... OMIM:124000
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Increased variability in muscle fiber diameter OMIM:617915
Aica-Ribosiduria Due To Atic Deficiency
Secundum atrial septal defect, Hypoglycemia OMIM:608688
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Hypoglycemia, Hypothyroidism, Delayed puberty, Adrenal hypoplasia, D... ORPHA:95496
Intrahepatic Cholestasis Of Pregnancy
Elevated circulating hepatic transaminase concentration, Abnormal pineal melatonin secretion, Asc... ORPHA:69665
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Left vent... OMIM:619355
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Increased variability in muscle fiber diameter, Pelvic girdle muscle weakness, Calf muscle hypert... ORPHA:119
Ovarian Hyperstimulation Syndrome
Generalized edema, Ascites, Peripheral edema, Pleural effusion, Pulmonary edema, Increased serum ... ORPHA:64739
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Hypoglycemia, Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Congeni... ORPHA:457279
Short-Rib Thoracic Dysplasia 12
Periportal fibrosis, Ascites, Polyhydramnios, Splenomegaly, Inguinal hernia, Ventricular septal d... OMIM:269860
Dpagt1-Cdg
Failure to thrive, Hypertrichosis, Hepatomegaly, Lipodystrophy, Camptodactyly, Flexion contracture ORPHA:86309
Cap Myopathy
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Mitral valve prolapse... ORPHA:171881
Pancreatic Agenesis 1
Neonatal insulin-dependent diabetes mellitus, Pancreatic hypoplasia, Failure to thrive, Exocrine ... OMIM:260370
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Alopecia, Insulin-resistant diabetes mellitus, Decreased response to g... ORPHA:3464
Thyrotoxic Periodic Paralysis
Postprandial hyperglycemia, Graves disease, Obesity, Weight loss, Hyperhidrosis, Hyperthyroidism,... ORPHA:79102
Autosomal Recessive Polycystic Kidney Disease
Hepatic fibrosis, Periportal fibrosis, Cholestasis, Ascites, Hepatosplenomegaly, Hypersplenism, P... ORPHA:731
Encephalocraniocutaneous Lipomatosis
Alopecia, Abnormal eyelash morphology, Multiple lipomas, Lipodystrophy ORPHA:2396
Primary Triglyceride Deposit Cardiomyovasculopathy
Rimmed vacuoles, Cardiomyopathy, Coronary artery stenosis, Abnormality of the shoulder girdle mus... ORPHA:565612
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Increased variability in muscle fiber diameter, Elevated circulating hepatic transaminase concent... ORPHA:17
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Hypoglycemia OMIM:210200
Sheehan Syndrome
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:91355
Mandibuloacral Dysplasia Progeroid Syndrome
Sparse eyebrow, Generalized lipodystrophy, Glucose intolerance, Macrovesicular hepatic steatosis,... OMIM:619127
Isolated Complex I Deficiency
Hypoglycemia, Hypertrophic cardiomyopathy, Hepatomegaly, Diabetes mellitus, Abnormal mitochondria... ORPHA:2609
Myoclonus, Intractable, Neonatal
Increased variability in muscle fiber diameter OMIM:617235
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Congenital adren... ORPHA:90791
Glycogen Storage Disease Ib
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Pancreatitis... OMIM:232220
Pituitary Apoplexy
Pituitary adenoma, Increased circulating cortisol level, Hypoglycemia, Increased circulating prol... ORPHA:95613
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Hepatomegaly, Increased variability in muscle fiber diameter, Myopathy, Death in infancy OMIM:604377
Aicardi-Goutières Syndrome
Hepatosplenomegaly, Multiple joint contractures, Hypothyroidism, Prolonged neonatal jaundice, Pan... ORPHA:51
Complement Factor B Deficiency
Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease OMIM:615561
Chédiak-Higashi Syndrome
Recurrent staphylococcal infections, Abnormality of neutrophil physiology, Hemophagocytosis, Abno... ORPHA:167
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Recurrent upper respiratory tract infections, Type I diabetes mellitus, Chronic mucocutaneous can... ORPHA:391487
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Lymphopenia, Decreas... OMIM:620005
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Polysplenia, Ascites, Pancreatic fibrosis, Hepatomegaly OMIM:200995
Lethal Congenital Contracture Syndrome 10
Increased variability in muscle fiber diameter, Oligohydramnios, Ventricular septal defect, Cardi... OMIM:617022
Combined Oxidative Phosphorylation Deficiency 37
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Decreased liver function, ... OMIM:618329
Bachmann-Bupp Syndrome
Polyhydramnios, Hypoglycemia OMIM:619075
Amyotrophic Lateral Sclerosis 21
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:606070
Chediak-Higashi Syndrome
Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Recurrent systemic pyogeni... OMIM:214500
Chondrodysplasia, Blomstrand Type
Polyhydramnios, Fetal ascites, Hydrops fetalis, Stillbirth OMIM:215045
Fumarase Deficiency
Intrahepatic cholestasis, Hepatic failure, Polycythemia, Ascites, Reduced subcutaneous adipose ti... OMIM:606812
Pyruvate Carboxylase Deficiency
Hepatomegaly, Hyperglycemia, Failure to thrive, Hypoglycemia ORPHA:3008
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Abnormal heart morphology, Hypertrophic cardiomyopathy, Abnormality of the liver, Ascites, Muscle... ORPHA:464321
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Bone marrow hypocellularity, Recurrent upper respiratory tract infections, Lymphopenia, Leukopeni... ORPHA:508542
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hypertrophic cardiomyopath... OMIM:616878
Glutaric Acidemia I
Hepatomegaly, Hypoglycemia OMIM:231670
Congenital Syphilis
Hypoglycemia, Extramedullary hematopoiesis, Hepatosplenomegaly, Prolonged neonatal jaundice, Panc... ORPHA:499009
Silver-Russell Syndrome 1
Decreased response to growth hormone stimulation test, Fasting hypoglycemia, Hepatocellular carci... OMIM:180860
Hennekam Syndrome
Chylothorax, Camptodactyly of finger, Lymphedema, Lymphopenia, Ascites, Splenomegaly, Hydrops fet... ORPHA:2136
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Decreased circulating IgA level, Neonatal hypoglycemia ORPHA:457485
Shashi-Pena Syndrome
Limb hypertonia, Atrial septal defect, Hypoglycemia OMIM:617190
Basilicata-Akhtar Syndrome
Camptodactyly, Neonatal hypoglycemia, Precocious puberty OMIM:301032
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Ascites, Hepatic fibrosis, Hydrops fetalis OMIM:614091
Hemihyperplasia-Multiple Lipomatosis Syndrome
Ovarian serous cystadenoma, Multiple lipomas, Hydrocele testis, Lipoatrophy ORPHA:276280
Optic Atrophy 11
Fiber type grouping, Increased variability in muscle fiber diameter, Facial diplegia, Splenomegaly OMIM:617302
Carnitine Palmitoyltransferase Ii Deficiency
Hepatic failure, Cardiomyopathy, Hypoketotic hypoglycemia, Rhabdomyolysis, Myopathy, Hepatic calc... ORPHA:157
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoglycemia, Death in childhood, Death in infancy, Neonatal death, Death in adolescence, Neonata... OMIM:619055
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Increased variability in muscle fiber diameter, Flexion contracture OMIM:619026
Multiple Mitochondrial Dysfunctions Syndrome 7
Hyperglycemia, Hypoglycemia OMIM:620423
Mannosidosis, Alpha B, Lysosomal
Recurrent bacterial infections, Vacuolated lymphocytes, Decreased circulating antibody level, Spl... OMIM:248500
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Morgagni diaphragmatic hernia, Umbilical hernia, Ascites, Posterolateral diaphr... OMIM:613177
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Polyhydramnios, Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance,... OMIM:612949
Immunodeficiency 27B
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections OMIM:615978
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Hypothyroidism, Delayed puberty, Recurrent hypoglycemia OMIM:616817
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hepatic failure, Skeletal muscle atrophy, Hypoglycemia, Concentric hypertrophic cardiomyopathy, H... OMIM:252010
Acute Adrenal Insufficiency
Normocytic anemia, Androgen insufficiency, Hypoglycemia, Increased circulating ACTH level, Recurr... ORPHA:95409
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Facial edema, Anasarca, Ascites, Pleural effusion, Palpebral edema, Edema, Pedal edema ORPHA:567546
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hypoglycemia, Abnormal circulating androgen level, Increased circulating ACTH level, Adrenal hype... ORPHA:90790
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent Haemophilus influenzae infections, Recurrent bronchitis OMIM:300455
Niemann-Pick Disease, Type C2
Fetal ascites, Sea-blue histiocytosis, Polyhydramnios, Splenomegaly, Death in infancy, Death in c... OMIM:607625
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Highly arched eyebrow, Decreased response to growth hormone stimulation test, Hyperglycemia, Long... ORPHA:444077
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocyto... OMIM:616084
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Compensated hypothyroidism... ORPHA:480864
Wiedemann-Rautenstrauch Syndrome
Increased circulating prolactin concentration, Slender build, Increased serum estradiol, Type II ... ORPHA:3455
Fraser Syndrome 3
Ascites, Oligohydramnios, Nonimmune hydrops fetalis, Stillbirth OMIM:617667
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Premature adrenarche, Central hypothyroidism, Increased circulating prolactin concentration, Decr... ORPHA:293987
Simpson-Golabi-Behmel Syndrome
Hypoglycemia, Umbilical hernia, Camptodactyly of finger, Polysplenia, Increased circulating IgE l... ORPHA:373
Neonatal Marfan Syndrome
Decreased testicular size, Flexion contracture, Lipoatrophy, Small for gestational age ORPHA:284979
Thalidomide Embryopathy
Insulin resistance ORPHA:3312
Intellectual Developmental Disorder, Autosomal Dominant 45
Neonatal hypoglycemia, Pulmonic stenosis OMIM:617600
Xfe Progeroid Syndrome
Elevated circulating hepatic transaminase concentration, Ascites, Corneal scarring, Absence of su... OMIM:610965
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Ankle flexion contracture, Increased variability in muscle fiber diameter, Elbow flexion contract... OMIM:619461
Bannayan-Riley-Ruvalcaba Syndrome
Skeletal muscle atrophy, Hypoglycemia, Lymphedema, Thyroid carcinoma, Myopathy, Hashimoto thyroid... ORPHA:109
Leigh Syndrome
Hepatic failure, Skeletal muscle atrophy, Hypoglycemia, Hypertrophic cardiomyopathy, Multiple joi... ORPHA:506
Leukocyte Adhesion Deficiency
Bone marrow hypocellularity, Abnormality of neutrophil physiology, Sepsis, Recurrent tonsillitis,... ORPHA:2968
Kenny-Caffey Syndrome, Type 1
Anemia, Congenital hypoparathyroidism, Recurrent bacterial infections OMIM:244460
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Highly arched eyebrow, Failure to thrive, Hypoglycemia, Hyperglycemia, Inguinal hernia, Low anter... OMIM:220111
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hepatic failure, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis,... OMIM:203700
Carney Triad
Anemia, Leiomyosarcoma, Ascites ORPHA:139411
Biliary, Renal, Neurologic, And Skeletal Syndrome
Unbalanced atrioventricular canal defect, Cholestasis, Congenital hepatic fibrosis, Ventricular s... OMIM:619534
Beckwith-Wiedemann Syndrome
Congenital diaphragmatic hernia, Hepatoblastoma, Hepatomegaly, Neonatal hypoglycemia, Visceromega... ORPHA:116
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Aortic valve stenosis, Hypoglycemia, Umbilical hernia, Bicuspid aortic valve, Macroglossia OMIM:614501
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemia, Hepatic steatosis, Increased hepatic glycogen content, Hepatomegaly, Anemia, Hepato... ORPHA:79259
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatic failure, Cardiomyopathy, Hypoketotic hypoglycemia, Hepatic steatosis, Hepatic calcificati... ORPHA:228308
Glycogen Storage Disease Ic
Hypoglycemia, Cyclic neutropenia, Chronic pancreatitis, Hepatoblastoma, Delayed puberty, Hepatome... OMIM:232240
Crimean-Congo Hemorrhagic Fever
Hepatic failure, Increased circulating IgG level, Ascites, Pancytopenia, Leukopenia, Leukocytosis... ORPHA:99827
Addison Disease
Normocytic anemia, Thymoma, Type I diabetes mellitus, Hypoglycemia, Androgen insufficiency, Adren... ORPHA:85138
Wiedemann-Rautenstrauch Syndrome
Sparse eyebrow, Alopecia, Failure to thrive, Alopecia of scalp, Absence of subcutaneous fat, Redu... OMIM:264090
Creatine Phosphokinase, Elevated Serum
Muscular dystrophy, Inflammatory myopathy, Myopathy, Abnormal muscle fiber morphology, EMG: myopa... OMIM:123320
Wrinkly Skin Syndrome
Failure to thrive, Umbilical hernia, Inguinal hernia, Cryptorchidism, Lipodystrophy, Sparse hair ORPHA:2834
Mosaic Variegated Aneuploidy Syndrome
Muscular dystrophy, Ascites, Increased nuchal translucency, Acute lymphoblastic leukemia, Hypothy... ORPHA:1052
Pmm2-Cdg
Insulin resistance, Hepatic fibrosis, Elevated circulating thyroid-stimulating hormone concentrat... ORPHA:79318
Proteus Syndrome
Thymus hyperplasia, Abnormal dental enamel morphology, Neoplasm of the thymus, Splenomegaly, Abno... ORPHA:744
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Hypoglycemia, Abnormal heart morphology, Megaloblastic anemia, Thrombocyt... ORPHA:79282
Nijmegen Breakage Syndrome
Recurrent pneumonia, Recurrent urinary tract infections, Recurrent otitis media, Recurrent infect... OMIM:251260
Sotos Syndrome
Muscular ventricular septal defect, Glucose intolerance, Ventricular septal defect, Atrial septal... OMIM:117550
Cerebral Visual Impairment
Meningitis, Unusual CNS infection, Neonatal hypoglycemia, Infectious encephalitis ORPHA:447788
Sickle Cell Disease
Splenic infarction, Increased red cell sickling tendency, Leukocytosis, Splenomegaly, Target cell... OMIM:603903
Atelis Syndrome 2
Hyperinsulinemia, Elevated circulating thyroid-stimulating hormone concentration OMIM:620185
Turner Syndrome Due To Structural X Chromosome Anomalies
Cholestatic liver disease, Hepatic fibrosis, Atypical scarring of skin, Alopecia, Biliary cirrhos... ORPHA:99413
Mosaic Monosomy X
Cholestatic liver disease, Hepatic fibrosis, Atypical scarring of skin, Alopecia, Biliary cirrhos... ORPHA:99228
Monosomy X
Cholestatic liver disease, Hepatic fibrosis, Atypical scarring of skin, Alopecia, Biliary cirrhos... ORPHA:99226
Turner Syndrome
Cholestatic liver disease, Hepatic fibrosis, Atypical scarring of skin, Alopecia, Biliary cirrhos... ORPHA:881
D-Glyceric Aciduria
Hypoglycemia OMIM:220120
Lymphatic Malformation 13
Lymphedema, Ascites, Patent foramen ovale, Nonimmune hydrops fetalis, Neonatal death, Atrial sept... OMIM:620244
Lethal Congenital Contracture Syndrome 9
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Joint... OMIM:616503
Wars2-Related Combined Oxidative Phosphorylation Defect
Cardiomyopathy, Limb hypertonia, Thrombocytopenia, Neonatal hypoglycemia, Generalized amyotrophy ORPHA:572798
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Increased variability in muscle fiber diameter, Increased circulating prolactin concentration, We... ORPHA:502423
Beckwith-Wiedemann Syndrome
Pancreatic hyperplasia, Cardiomyopathy, Adrenocortical cytomegaly, Diastasis recti, Adrenocortica... OMIM:130650
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Limb muscle weakness, Ra... OMIM:157640
Eisenmenger Syndrome
Bacterial endocarditis, Generalized edema, Increased mean corpuscular volume, Brain abscess, Abno... ORPHA:97214
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Precocious puberty, Cholelithiasis, Hypoglycemia, Umbilical hernia, Hepatosplenomegaly, Cholecyst... OMIM:301066
Combined Oxidative Phosphorylation Deficiency 58
Ragged-red muscle fibers, Hypoglycemia OMIM:620451
Steinert Myotonic Dystrophy
Insulin resistance, Alopecia, Male hypogonadism, Cholelithiasis, Decreased response to growth hor... ORPHA:273
Bardet-Biedl Syndrome
Insulin resistance, Hepatic fibrosis, Hypogonadism, Decreased testicular size, Obesity, Impaired ... ORPHA:110
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dilat... OMIM:607459
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Hypoglycemia, Lymphopenia, Abnormal lymphocyte morphology,... ORPHA:99826
Hutchinson-Gilford Progeria Syndrome
Insulin resistance, Dystrophic toenail, Alopecia totalis, Delayed menarche, Absence of subcutaneo... ORPHA:740
Scorpion Envenomation
Hyperglycemia, Hyperhidrosis, Acute pancreatitis, Glycosuria ORPHA:466677
Combined Oxidative Phosphorylation Defect Type 39
Neonatal hypoglycemia, Limb hypertonia, Congenital foot contractures ORPHA:565624
Niemann-Pick Disease, Type C1
Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Fatal liver failure in infancy, Prolonged ne... OMIM:257220
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... ORPHA:786
Tropical Endomyocardial Fibrosis
Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Ascites, Right ventri... ORPHA:75565
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Skeletal muscle atrophy, Hypoglycemia OMIM:210210
Niemann-Pick Disease Type C
Hepatic failure, Fetal ascites, Ascites, Hepatosplenomegaly, Abnormality of the liver, Splenomega... ORPHA:646
Holoprosencephaly
Hypoglycemia, Tetralogy of Fallot, Abnormality of the spleen, Panhypopituitarism, Abnormal pulmon... ORPHA:2162
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Increased variability in muscle fiber diameter, Type 2 muscle fiber predominance OMIM:619173
Familial Mediterranean Fever
Acute hepatic failure, Ascites, Leukocytosis, Splenomegaly, Peritonitis, Pancreatitis, Pedal edem... ORPHA:342
Autoimmune Lymphoproliferative Syndrome
Bone marrow hypocellularity, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive hel... ORPHA:3261
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Neonatal hypoglycemia OMIM:608624
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent otitis media, Recurrent sinusitis, Recurrent mening... OMIM:610984
Orthostatic Hypotension 1
Neonatal hypoglycemia, Reduced circulating prolactin concentration, Weakness of facial musculature OMIM:223360
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Decreased response to growth hormone stimulation test, Flexion contracture, Central adrenal insuf... OMIM:616007
Deeah Syndrome
Exocrine pancreatic insufficiency, Polyhydramnios, Death in childhood, Death in infancy, Death in... OMIM:619004
Johanson-Blizzard Syndrome
Intrahepatic cholestasis, Hepatic fibrosis, Hepatic failure, Dilated cardiomyopathy, Generalized ... OMIM:243800
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections, Congenital hypoparathyroidism, Decreased circulating parathyroid ... OMIM:241410
Autosomal Agammaglobulinemia
Sepsis, Recurrent respiratory infections, Agammaglobulinemia, Neutropenia, Meningitis, Recurrent ... ORPHA:33110
Immunodeficiency 82 With Systemic Inflammation
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Dec... OMIM:619381
Myopathy, Mitochondrial, And Ataxia
Increased variability in muscle fiber diameter, Distal amyotrophy, Increased circulating prolacti... OMIM:617675
Fructose Intolerance, Hereditary
Elevated circulating hepatic transaminase concentration, Glycosuria, Hypoglycemia, Hepatic steato... OMIM:229600
Cholera
Dehydration, Hypoglycemia, Miscarriage ORPHA:173
X-Linked Dominant Chondrodysplasia Punctata
Flexion contracture, Scarring alopecia of scalp, Neonatal hypoglycemia ORPHA:35173
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Hypoglycemia, Torticollis OMIM:620224
Postinfectious Vasculitis
Recurrent mycobacterial infections, Invasive fungal infection, Severe viral infection, Recurrent ... ORPHA:48435
Menkes Disease
Atypical scarring of skin, Chondrocalcinosis, Hypoglycemia, Umbilical hernia, Inguinal hernia, He... ORPHA:565
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Adrenal calcification, Absence of secondary sex c... ORPHA:289548
Congenital Disorder Of Glycosylation, Type Im
Hypoketotic hypoglycemia, Dilated cardiomyopathy OMIM:610768
Oculodentodigital Dysplasia
Hypoglycemia, Umbilical hernia, Abnormal dental enamel morphology, Camptodactyly of finger, Ventr... ORPHA:2710
Histiocytoid Cardiomyopathy
Hypoglycemia, Ventricular septal defect, Pulmonary edema, Cardiomegaly, Hepatomegaly ORPHA:137675
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Absence of secondary sex characteristics, Increas... ORPHA:168558
Hereditary Fructose Intolerance
Hepatomegaly, Jaundice, Chronic hepatic failure, Reactive hypoglycemia ORPHA:469
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Jaundice, Hypoglycemia OMIM:615751
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Anemia, Leukocytosis, Splenomegaly, Recurrent bacterial infections OMIM:615895
Complement Component 5 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:609536
Kabuki Syndrome 2
Atrioventricular canal defect, Neonatal hypoglycemia, Atrial septal defect, Pulmonic stenosis OMIM:300867
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Congenital contracture, Death... OMIM:613150
Glycerol Kinase Deficiency
Muscular dystrophy, Hypoglycemia, Adrenal insufficiency, Adrenocortical hypoplasia, Chronic pancr... OMIM:307030
Idiopathic Bronchiectasis
Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections ORPHA:60033
Lymphangioleiomyomatosis
Chylothorax, Lymphedema, Ascites, Chylopericardium, Shagreen patch ORPHA:538
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypoglycemia, Hypopituitarism, Dec... ORPHA:90695
Lysinuric Protein Intolerance
Hemophagocytosis, Decreased response to growth hormone stimulation test, Leukopenia, Hepatospleno... ORPHA:470
Primary Ciliary Dyskinesia
Recurrent mycobacterial infections, Polysplenia, Recurrent otitis media, Recurrent sinopulmonary ... ORPHA:244
Native American Myopathy
Congenital contracture, Skeletal muscle atrophy, Muscle fiber atrophy, Camptodactyly, Abnormality... ORPHA:168572
Oculopharyngodistal Myopathy 1
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Dilated cardi... OMIM:164310
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Ragged-red muscle fibers ORPHA:70595
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Abnormal B cell morphology, Aplasia of the thymus, T lymphocytopenia OMIM:618223
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Precocious puber... ORPHA:90794
Renal Agenesis, Bilateral
Oligohydramnios, Nonketotic hypoglycemia ORPHA:1848
Alström Syndrome
Testicular fibrosis, Frontal balding, Decreased circulating T4 concentration, Hyperinsulinemia, H... ORPHA:64
Costello Syndrome
Hypoglycemia, Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal defect, Atri... OMIM:218040
3-Methylglutaconic Aciduria, Type Viii
Jaundice, Neonatal hypoglycemia, Neutropenia, Neonatal death OMIM:617248
Neurooculorenal Syndrome
Ectopic posterior pituitary, Central hypothyroidism, Recurrent hypoglycemia, Decreased circulatin... OMIM:620305
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Pancreatic hypoplasia, Contracture of the distal interphalangeal joint of the fin... ORPHA:83617
Infantile Systemic Hyalinosis
Recurrent bacterial infections, Abnormality of the adrenal glands, Aplasia/Hypoplasia of the thymus ORPHA:2176
Myasthenic Syndrome, Congenital, 19
Increased variability in muscle fiber diameter, Facial palsy OMIM:616720
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Adrenal calcification, Ascites, Polyhydramnios, Pancreatic calcification... ORPHA:51608
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent upper respiratory tract infections, Recurrent pneumonia, Cutaneous abscess, Chronic muc... OMIM:147060
Glutaryl-Coa Dehydrogenase Deficiency
Fasting hypoglycemia ORPHA:25
Chromomycosis
Recurrent bacterial infections ORPHA:182
Chronic Graft Versus Host Disease
Elevated circulating hepatic transaminase concentration, Xerostomia, Fasciitis, Ascites, Pancytop... ORPHA:99921
Atresia Of Urethra
Ascites, Oligohydramnios ORPHA:105
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Anterior pituitary agenesis, Ectopic anterior pituitary gland, Hypog... ORPHA:95494
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Increased variability in muscle fiber diameter, Muscular dystrophy OMIM:616538
Gaisböck Syndrome
Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he... ORPHA:90041
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased T cell count, Thrombocytopenia, Anemia,... OMIM:620376
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Elevated circulating 17-hydroxyprogesterone concentration, Joint contracture of the hand, Decreas... OMIM:201750
Cutis Marmorata Telangiectatica Congenita
Ascites, Hypothyroidism ORPHA:1556
Primary Fanconi Renotubular Syndrome
Dehydration, Glycosuria, Hypoglycemia ORPHA:3337
Holoprosencephaly 1
Diabetes insipidus, Adrenal hypoplasia, Hypoglycemia, Single ventricle OMIM:236100
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Facial hypotonia, Neonatal hypoglycemia ORPHA:457359
Sotos Syndrome
Ankle flexion contracture, Umbilical hernia, Abnormal heart morphology, Acute lymphoblastic leuke... ORPHA:821
Cystic Fibrosis
Recurrent respiratory infections, Recurrent Aspergillus infections, Recurrent Burkholderia cepaci... ORPHA:586
Atrial Septal Defect, Coronary Sinus Type
Recurrent bacterial infections ORPHA:99104
Patent Urachus
Recurrent gram-negative bacterial infections, Recurrent urinary tract infections ORPHA:431341
Atrial Septal Defect, Ostium Secundum Type
Recurrent bacterial infections ORPHA:99103
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Recurrent bacterial infections, Recurrent infections, Recurrent respiratory infections ORPHA:2273
Hereditary Sensory And Autonomic Neuropathy Type 4
Anemia, Recurrent Staphylococcus aureus infections, Tooth abscess, Abscess ORPHA:642

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 Pik3r1

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 Pik3r1.

No publications found that use IMPC mice or data for Pik3r1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Pik3r1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Pik3r1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Pik3r1tm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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