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:
p85alpha,  p50alpha,  p55alpha,  PI3K

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 13
Maturity-onset diabetes of the young, Maternal diabetes OMIM:616329
Maturity-Onset Diabetes Of The Young, Type 4
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 7
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:610508
Type 1 Diabetes Mellitus 15
Diabetes mellitus, Type I diabetes mellitus OMIM:601666
Maturity-Onset Diabetes Of The Young, Type 14
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:616511
Type 1 Diabetes Mellitus 2
Diabetes mellitus, Type I diabetes mellitus OMIM:125852
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 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
Pancreas, Dorsal, Agenesis Of
Diabetes mellitus OMIM:167755
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia OMIM:610021
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Multiple Symmetric Lipomatosis
Hepatomegaly, Abnormal adipose tissue morphology, Multiple lipomas, Insulin resistance ORPHA:2398
Lipodystrophy, Familial Partial, Type 1
Lipodystrophy, Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus, Acu... OMIM:608600
Immunodeficiency 40
Lymphopenia OMIM:616433
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... ORPHA:293964
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Immunodeficiency 24
Partial absence of specific antibody response to tetanus vaccine, Defective T cell proliferation,... OMIM:615897
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Hepatic steatosis, Lipodystrophy, Abdominal obesity, Diabetes mellitus OMIM:615980
Lipase Deficiency, Combined
Pancreatitis, Lipodystrophy, Type II diabetes mellitus OMIM:246650
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Hypoglycemia, Fasting ... ORPHA:263458
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Lipoatrophy, Polycystic ovaries, Hepatom... ORPHA:79084
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Maturity-Onset Diabetes Of The Young, Type 10
Maturity-onset diabetes of the young, Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis OMIM:613370
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia OMIM:262400
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Recurrent candida infections, Decreased circulating IgG level, Recurrent bacte... OMIM:242870
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Hepatic steatosis, Lipoatrophy, Polycystic ovaries, Hepatic fibrosis, Loss of g... ORPHA:280356
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Hepatic steatosis, Lipodystrophy, Hirsutism, Hepatomegaly, Splenomegaly, Redu... OMIM:612526
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypothyroidism, Umbilical hernia, Hypoin... ORPHA:99886
Lipodystrophy, Familial Partial, Type 7
Lack of facial subcutaneous fat, Glucose intolerance, Insulin resistance, Impaired glucose tolera... OMIM:606721
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia OMIM:240900
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia OMIM:615158
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Type 2 Diabetes Mellitus
Increased waist to hip ratio, Type II diabetes mellitus, Insulin resistance OMIM:125853
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Maternal diabetes, Hyperinsulinemia, Hepatic steatosis, Lipodystrophy, Hirsutism, Insu... OMIM:604367
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Truncal obesity, Delayed puberty, Decreased serum insulin-like growth factor 1, Insulin resistance ORPHA:140941
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Red hair, Pituitary hypothyroidism, Central adrenal insu... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Red hair, Pituitary hypothyroidism, Central adrenal insu... ORPHA:71526
Wolfram-Like Syndrome, Autosomal Dominant
Impaired glucose tolerance, Diabetes mellitus, Glucose intolerance OMIM:614296
Combined Oxidative Phosphorylation Deficiency 36
Hypoglycemia OMIM:617950
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia OMIM:616941
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia ORPHA:314802
Hyperinsulinism Due To Glucokinase Deficiency
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Type II diabetes... ORPHA:79299
Optic Atrophy--Spastic Paraplegia Syndrome
Abnormal oral glucose tolerance OMIM:311100
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Nonketotic hypoglycemia,... ORPHA:411593
Growth Factors, Combined Defect Of
Lipodystrophy, Reduced subcutaneous adipose tissue, Flexion contracture, Insulin-resistant diabet... OMIM:233805
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Increased adipose tissue, Type II diabetes mellitus, Childhood-onset truncal ob... ORPHA:71529
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis, Lipoatrophy, Diabetes mellitus OMIM:613877
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia ORPHA:366
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Insulin resistance, Hepatic steatosis, Lipo... ORPHA:79085
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bronchitis, Recurrent otitis media, Neutropenia, Agammaglobulinemia, Recurrent bacteria... OMIM:613501
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia OMIM:609968
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Death in infancy, Hyp... OMIM:617156
Myopathy, Distal, With Rimmed Vacuoles
EMG: myopathic abnormalities, Scapular winging, Internally nucleated skeletal muscle fibers, Z-ba... OMIM:617158
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Recurrent... OMIM:613493
Hemochromatosis, Neonatal
Cirrhosis, Hepatocellular necrosis, Oligohydramnios, Hypoglycemia, Cholestasis, Hepatic fibrosis,... OMIM:231100
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Severe failure to thrive, Hyperglycemia OMIM:601410
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Z-band streaming, ... OMIM:618655
Cernunnos-Xlf Deficiency
T lymphocytopenia, Decreased circulating antibody level, Lymphopenia, Recurrent viral infections,... ORPHA:169079
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Diabetes mellitus, Insulin resistance OMIM:612227
Lipe-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Insulin resistance, Hepatic steatosis, Lipo... ORPHA:435660
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Cidec-Related Familial Partial Lipodystrophy
Decreased serum leptin, Hepatic steatosis, Lipodystrophy, Insulin-resistant diabetes mellitus, Po... ORPHA:435651
Acquired Partial Lipodystrophy
Generalized hirsutism, Hepatic steatosis, Lipoatrophy, Insulin resistance ORPHA:79087
RCAD (renal cysts and diabetes)
Diabetes mellitus DECIPHER:47
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Multiple pancreat... OMIM:147630
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:609016
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613375
Riboflavin Deficiency
Hypoglycemia OMIM:615026
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Meningitis, Agammaglobulinemia, Recurrent bacterial infections, Recurrent re... OMIM:613500
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Cutaneous abscess, Decreased proportion of C... OMIM:618204
Gne Myopathy
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Scapular winging, Hip flexor weakne... ORPHA:602
Glycogen Storage Disease Ixa1
Hypoglycemia OMIM:306000
Fetal Parvovirus Syndrome
Hydrops fetalis, Thrombocytopenia, Increased nuchal translucency, Ascites, Anemia ORPHA:295
Short Stature Due To Ghsr Deficiency
Hypoglycemia ORPHA:314811
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Myelolymphatic Insufficiency
Recurrent viral infections, Hyposegmentation of neutrophil nuclei, Leukopenia, Recurrent bacteria... OMIM:310350
Nephrosialidosis
Bone-marrow foam cells, Pericardial effusion, Death in childhood, Ascites OMIM:256150
Pituitary Hormone Deficiency, Combined, 4
Hypoglycemia OMIM:262700
Preaxial Hallucal Polydactyly
Diabetes mellitus OMIM:601759
Lipodystrophy, Familial Partial, Type 2
Increased intraabdominal fat, Hyperinsulinemia, Hepatic steatosis, Adipose tissue loss, Increased... OMIM:151660
Immunodeficiency With Hyper-Igm, Type 3
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, Ne... OMIM:606843
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Hyperglycemia, Male hypogonadism, Glucose intolerance OMIM:307500
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Delayed puberty, Hyperinsulinemic hypoglycemia, Dorsocervical fat pad OMIM:616033
Splenoportal Vascular Anomalies
Cirrhosis, Hepatic fibrosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Diabete... OMIM:271500
Congenital Generalized Lipodystrophy
Low anterior hairline, Cirrhosis, Low posterior hairline, Hyperinsulinemia, Insulin resistance, H... ORPHA:528
Growth Hormone Insensitivity Syndrome
Insulin resistance, Hypoglycemia, Truncal obesity, Type II diabetes mellitus, Failure to thrive, ... ORPHA:181393
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... OMIM:262190
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology, Recurrent protozoan infections, Recurrent viral infections, Rec... OMIM:308220
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Neutropenia, Agammaglobulinemia, Recurrent bacterial... OMIM:613502
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Premature graying of hair, Abnormal hair morphology, Lipodystrophy, Flexion contracture, Lipoatro... ORPHA:1979
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent fungal infections, Lymphopenia, Recurrent viral infections, Neutropenia, Recurrent bact... OMIM:614868
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Recurrent pneumonia, Recurrent bronchitis,... OMIM:607594
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia OMIM:616111
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, ... ORPHA:276608
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Flexion contracture, Type I diabetes mellitus OMIM:618856
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Familial Partial Lipodystrophy, Dunnigan Type
Cellulitis, Insulin resistance, Hepatic steatosis, Lipodystrophy, Lipoatrophy, Polycystic ovaries... ORPHA:2348
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Slender build, Generalized lipodystrophy, Small for gestational age, Failure to thrive ORPHA:50811
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Dif... ORPHA:276575
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Pressure-Induced Localized Lipoatrophy
Reduced subcutaneous adipose tissue, Lipoatrophy, Absence of subcutaneous fat ORPHA:90160
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Recurrent respiratory infections, Recurrent bacterial in... OMIM:613495
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Muscular dystrophy, Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Prox... OMIM:601954
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Decreased circulating to... OMIM:618987
Hereditary Myopathy With Early Respiratory Failure
EMG: myopathic abnormalities, Internally nucleated skeletal muscle fibers, Muscle fiber hypertrop... ORPHA:178464
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Cryptorchidism, Insulin resistance, Hepatic steatosis, Lipodystrophy, Flexion contracture, Hepato... OMIM:615381
Immunodeficiency, Common Variable, 13
Decreased circulating antibody level, Pancytopenia, B lymphocytopenia, Recurrent bacterial infect... OMIM:616873
Agammaglobulinemia 1, Autosomal Recessive
Decreased circulating antibody level, Recurrent otitis media, Recurrent sinusitis, Neutropenia, B... OMIM:601495
Polyendocrine-Polyneuropathy Syndrome
Hypoglycemia OMIM:616113
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Glucose in... ORPHA:552
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Proximal muscle weakness in lower limbs, Muscle fiber necrosis, Calf muscle hypertrophy, Fatty re... OMIM:618848
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Reduced intraabdominal adipose tissue, Hepatic s... ORPHA:363400
Cranial Nerves, Recurrent Paresis Of
Diabetes mellitus OMIM:218200
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Congenital Disorder Of Glycosylation, Type Iir
Micronodular cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Jaundice,... OMIM:301045
Donohue Syndrome
Fasting hypoglycemia, Ovarian cyst, Hyperinsulinemia, Postprandial hyperglycemia, Adipose tissue ... OMIM:246200
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Progressive loss of facial adipose tissue, Lipodystrophy, Loss of subcutaneous adipose tissue fro... OMIM:613913
Immunodeficiency 61
Recurrent otitis media, Recurrent sinusitis, Agammaglobulinemia, Recurrent bacterial infections, ... OMIM:300310
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche, Insulin resistance OMIM:614662
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperinsulinemia, Glucose intolerance, Sparse hair, Flexion contracture, Insulin-resistant diabet... OMIM:608612
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hepatic steatosis, Lipodystrophy OMIM:615238
Hemolytic Anemia, Lethal Congenital Nonspherocytic, With Genital And Other Abnormalities
Hepatosplenomegaly, Hemolytic anemia, Ascites OMIM:600461
Drug-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Lipoatrophy, Absence of subcutaneous fat ORPHA:90157
African Iron Overload
Peritonitis, Micronodular cirrhosis, Increased circulating cortisol level, Abnormal heart morphol... ORPHA:139507
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent streptococcus pneumoniae infections, Neutropenia, Recurrent staphylococcal infections, ... ORPHA:70592
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Dilated cardiomyopathy, Hypoketotic hypoglycemia, Hepatic steatosis, Hepat... OMIM:231530
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Primary Lipodystrophy
Cirrhosis, Insulin resistance, Hepatic steatosis, Lipodystrophy, Lipoatrophy, Polycystic ovaries,... ORPHA:90970
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, Impaired glucose tolerance, Increased adipose tissue around the neck, Flexion c... OMIM:248370
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Neutropenia, Recurrent bacterial infect... OMIM:616022
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Immunodeficiency With Hyper-Igm, Type 2
Recurrent upper and lower respiratory tract infections, Decreased circulating IgA level, Recurren... OMIM:605258
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Elevate... OMIM:251880
Secondary Intestinal Lymphangiectasia
Lymphedema, Decreased circulating antibody level, Lymphopenia, Pedal edema, Pleural effusion, Chy... ORPHA:90363
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Short Syndrome
Glucose intolerance, Lipodystrophy, Lipoatrophy, Insulin-resistant diabetes mellitus, Inguinal he... OMIM:269880
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Ascites, Chylous
Chylous ascites OMIM:208300
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Increased hepatic glycogen content, Hypoglycemia, Hepatomegaly OMIM:232700
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD4-positive helper T cells, Recurrent bacterial skin infections, Abnorma... ORPHA:276
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased circulating I... OMIM:615513
Mpi-Cdg
Hypoglycemia ORPHA:79319
Mandibuloacral Dysplasia
Increased intraabdominal fat, Hyperinsulinemia, Glucose intolerance, Insulin resistance, Sparse h... ORPHA:2457
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Oculopharyngodistal Myopathy 2
EMG: myopathic abnormalities, Increased endomysial connective tissue, Rimmed vacuoles, Fatty repl... OMIM:618940
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Increased circ... OMIM:202700
Panniculitis-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Lipoatrophy, Absence of subcutaneous fat ORPHA:90159
Carnitine Deficiency, Systemic Primary
Elevated hepatic transaminase, Reduced muscle carnitine level, Hepatic steatosis, Endocardial fib... OMIM:212140
Diffuse Neonatal Hemangiomatosis
Polyhydramnios, Hydrops fetalis, Patent ductus arteriosus, Thrombocytopenia, Hepatomegaly, Ascite... ORPHA:2123
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Recurrent fungal infections, Recurrent upper and lower respiratory tract infections, Recurrent en... ORPHA:331206
Griscelli Syndrome, Type 2
Hemophagocytosis, Hepatosplenomegaly, Reduced delayed hypersensitivity, Recurrent bacterial infec... OMIM:607624
Ectodermal Dysplasia, Trichoodontoonychial Type
Sparse hair, Abnormal eyelash morphology, Lipoatrophy, Aplasia/Hypoplasia of the eyebrow, Sparse ... ORPHA:1818
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Increased endomysial connective tis... ORPHA:206549
Combined Oxidative Phosphorylation Deficiency 34
Primary adrenal insufficiency, Hepatic steatosis, Hypoglycemia, Pancytopenia, Hepatomegaly, Hepat... OMIM:617872
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
EMG: myopathic abnormalities, Facial hypotonia, Increased endomysial connective tissue, Hip flexo... ORPHA:266
Morbid Obesity And Spermatogenic Failure
Obesity, Hepatic steatosis, Type II diabetes mellitus, Insulin resistance OMIM:615703
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Minimal subcutaneous fat, Increased intraabdominal fat, Decreased serum leptin, Premature graying... ORPHA:280365
Immunodeficiency, Common Variable, 4
Recurrent pneumonia, Complete or near-complete absence of specific antibody response to unconjuga... OMIM:613494
Mitochondrial Myopathy With Diabetes
EMG: myopathic abnormalities, Weakness of orbicularis oculi muscle, Proximal amyotrophy, Facial p... OMIM:500002
Immunodeficiency, Common Variable, 10
Abnormal response to ACTH stimulation test, Decreased circulating total IgM, Recurrent otitis med... OMIM:615577
Aredyld Syndrome
Abnormal dental enamel morphology, Aplasia/Hypoplasia of the eyebrow, Lipoatrophy, Hepatomegaly, ... ORPHA:1133
Inclusion Body Myositis
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Skeletal muscle at... ORPHA:611
Specific Granule Deficiency 1
Absent neutrophil specific granules, Increased neutrophil mitochondria, Increased neutrophil ribo... OMIM:245480
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly OMIM:619164
Membranoproliferative Glomerulonephritis, X-Linked
Lipodystrophy OMIM:305800
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Hemolytic anemia, Recurrent fungal infections, Chronic oral candidiasis, Decre... OMIM:606367
Lymphangiectasia, Pulmonary, Congenital
Polyhydramnios, Palpebral edema, Pleural effusion, Pedal edema, Facial edema, Edema, Ascites, Non... OMIM:265300
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent Staphylococcus aureus infections, Decreased proportion of CD4-positive helper T cells, ... ORPHA:572
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia OMIM:616095
Tibial Muscular Dystrophy
EMG: myopathic abnormalities, Peroneal muscle atrophy, Increased muscle lipid content, Centrally ... ORPHA:609
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent opportunistic infections, T lymphocytopenia, Increased circulating IgE level, Recurrent... ORPHA:277
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Episo... ORPHA:276556
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia ORPHA:35878
Adult Idiopathic Neutropenia
Monocytosis, Monocytopenia, Increased circulating IgM level, Recurrent fungal infections, Helicob... ORPHA:2688
Primary Intestinal Lymphangiectasia
Iron deficiency anemia, Hydrops fetalis, Lymphedema, Decreased circulating antibody level, Lympho... ORPHA:90362
Pancreatic And Cerebellar Agenesis
Hypoglycemia, Pancreatic hypoplasia, Failure to thrive, Reduced subcutaneous adipose tissue, Hype... OMIM:609069
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Maternal diabetes, Insulin resistance, Hepatic steatosis, Lipoatrophy, Insulin-resista... ORPHA:79083
Ddost-Cdg
Hepatic steatosis, Failure to thrive, Lipodystrophy, Primary hypothyroidism ORPHA:300536
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Muscular dystrophy, Centrally nucle... OMIM:254110
Short Syndrome
Abnormal dental enamel morphology, Sparse hair, Insulin resistance, Lipodystrophy, Weight loss, I... ORPHA:3163
Insulin-Resistance Syndrome Type B
Hyperinsulinemic hypoglycemia, Hirsutism, Weight loss, Type II diabetes mellitus, Insulin resista... ORPHA:2298
Retinitis Pigmentosa
Hyperinsulinemia, Abnormal testis morphology, Atypical scarring of skin, Type II diabetes mellitu... ORPHA:791
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Recurrent urinary tract infections, Neutropeni... OMIM:300988
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cryptorchidism, Hyperinsulinemia, Hypergonadotropic hypogonadism, Keloids, Polycystic ovaries, Ty... ORPHA:3085
Tubular Aggregate Myopathy
EMG: myopathic abnormalities, Muscle fiber tubular inclusions, Centrally nucleated skeletal muscl... ORPHA:2593
Glycogen Storage Disease Iii
Ventricular hypertrophy, Elevated hepatic transaminase, Hypoglycemia, Hepatic fibrosis, Hepatomeg... OMIM:232400
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... ORPHA:231154
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, Thrombocytosis, Leukocytosis, Decreased circulating total IgM, Recurrent sinusitis, ... OMIM:619281
Insulin-Like Growth Factor I, Resistance To
Increased serum insulin-like growth factor 1, Highly arched eyebrow, Lipodystrophy, Decreased bod... OMIM:270450
Whim Syndrome 1
Recurrent upper respiratory tract infections, Decreased circulating antibody level, Neutropenia, ... OMIM:193670
Hemochromatosis, Type 1
Cirrhosis, Glucose intolerance, Elevated hepatic transaminase, Pleural effusion, Hepatocellular c... OMIM:235200
Nonaka Myopathy
EMG: myopathic abnormalities, Deposits immunoreactive to beta-amyloid protein, Distal lower limb ... OMIM:605820
Mannose-Binding Lectin Deficiency
Recurrent herpes, Disseminated cryptosporidium infection, Recurrent meningococcal disease, Recurr... OMIM:614372
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Recurrent opportunistic infections, T lymphocytopenia, Failure to thrive secondary to recurrent i... OMIM:601457
Immunodeficiency 72 With Autoinflammation
Increased proportion of memory T cells, Hepatosplenomegaly, Increased B cell count OMIM:618982
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Slender build, Congenital generalized lipodystrophy, Sparse facial hair, Sparse axillary hair, Sm... OMIM:608154
Insulinoma
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Fasting hyperinsulinemia, Neoplasm of the adrena... ORPHA:97279
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Stiff Skin Syndrome
Camptodactyly, Lipodystrophy, Elbow flexion contracture, Knee flexion contracture OMIM:184900
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
Glycogen Storage Disease Iv
Polyhydramnios, Cirrhosis, Arthrogryposis multiplex congenita, Hydrops fetalis, Edema, Ascites, H... OMIM:232500
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Increased circulating IgE level, Recurrent bacterial skin infections, Recurren... ORPHA:217390
Acquired Generalized Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Panniculitis, Insulin-resista... ORPHA:79086
3-Methylglutaconic Aciduria Type 1
Hypoglycemia ORPHA:67046
Agammaglobulinemia 6, Autosomal Recessive
Recurrent bronchitis, Recurrent pneumonia, Recurrent otitis media, Agammaglobulinemia, Recurrent ... OMIM:612692
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Type I diabetes mellitus, Small for gestational age, Diabetic ketoacidosis OMIM:618858
Immunodeficiency With Hyper-Igm, Type 5
Increased circulating IgM level, Recurrent upper and lower respiratory tract infections, Decrease... OMIM:608106
Nemaline Myopathy 2
Polyhydramnios, EMG: myopathic abnormalities, Fatty replacement of skeletal muscle, Arthrogryposi... OMIM:256030
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Skeletal muscle fibrosis, Rimmed vacuoles, Myofibrillar myopath... ORPHA:34516
Spinal Muscular Atrophy, Infantile, James Type
Lower limb muscle weakness, Type 1 muscle fiber predominance, Distal amyotrophy, Hip contracture,... OMIM:619042
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypoglycemia, Anemia OMIM:610090
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Severe B lymphocytopenia, Recurrent bronchitis, Decreased circulating ACTH level, Adrenocorticotr... ORPHA:293978
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatic steatosis, Nonketotic hypoglycemia, Periportal fibrosis, Exercis... OMIM:201475
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Lipodystrophy, Flexion contracture, Hirs... OMIM:613327
Alpha-Heavy Chain Disease
Hepatomegaly, Ascites, Anemia, Splenomegaly ORPHA:100025
Glucocorticoid Deficiency 2
Recurrent hypoglycemia OMIM:607398
Alpha-B Crystallin-Related Late-Onset Myopathy
EMG: myopathic abnormalities, Facial diplegia, Muscle fiber inclusion bodies, Autophagic vacuoles... ORPHA:399058
Immunodeficiency 35
Increased circulating IgE level, Recurrent fungal infections, Recurrent viral infections, Recurre... OMIM:611521
Immunodeficiency 13
T lymphocytopenia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Decreased CD... OMIM:615518
Adult-Onset Nemaline Myopathy
EMG: myopathic abnormalities, Increased muscle lipid content, Flexion contracture, Lower limb mus... ORPHA:171442
Central Core Disease Of Muscle
Centrally nucleated skeletal muscle fibers, Central core regions in muscle fibers, Type 1 muscle ... OMIM:117000
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Congenital muscular dystrophy, Skeletal muscle atrophy, Myopathy, Fatty replacement of skeletal m... OMIM:613204
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent opportunistic infections, Recurrent upper and lower respiratory tract infections, Recur... ORPHA:275
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Lymphopenia OMIM:247630
Familial Isolated Dilated Cardiomyopathy
Lipoatrophy ORPHA:154
Arthrogryposis Multiplex Congenita 6
Polyhydramnios, Arthrogryposis multiplex congenita, Death in infancy, Neonatal death, Nemaline bo... OMIM:619334
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent mycobacterial infections, Recurrent viral infections OMIM:613796
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Obesity ORPHA:329249
Myopathy, Distal, 5
Distal amyotrophy, Facial palsy, Rimmed vacuoles, Myopathy, Muscle fiber splitting OMIM:617030
Specific Granule Deficiency 2
Absent neutrophil specific granules, Recurrent otitis media, Neutropenia, Thrombocytopenia, Anemi... OMIM:617475
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Obesity ORPHA:369873
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Diabetes mellitus, Type I diabetes mellitus, Small for gestational age OMIM:606176
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Elevated hepatic tra... ORPHA:71212
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells OMIM:312863
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH level, Increased circulating cortiso... OMIM:615954
Neutropenia, Severe Congenital, X-Linked
Neutropenia, Recurrent bacterial infections OMIM:300299
X-Linked Lymphoproliferative Disease
Lymphocytosis, Pancytopenia, Histiocytosis, Decreased liver function, Increased B cell count, Myo... ORPHA:2442
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune thrombocytopenia, Recurrent upper respiratory tract infections, Autoimmune hemolytic a... OMIM:608184
Neonatal Hemochromatosis
Hypoglycemia ORPHA:446
Histidinuria-Renal Tubular Defect Syndrome
Hypoglycemia ORPHA:2158
Immunodeficiency 51
Recurrent bronchitis, Cutaneous abscess, Chronic oral candidiasis, Recurrent Staphylococcus aureu... OMIM:613953
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Small for gestational age, Glycosuria OMIM:618857
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal lower limb amyotrophy, Limb-girdle muscular dystrophy, Proximal upper limb amyotrophy, P... OMIM:609115
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Obesity OMIM:618406
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, T l... OMIM:618986
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Hepatic steatosis, Elevated circulating alanine aminotransferase concent... OMIM:619048
Immunodeficiency, Common Variable, 2
Recurrent bronchitis, Partial absence of specific antibody response to unconjugated pneumococcus ... OMIM:240500
Bare Lymphocyte Syndrome, Type Ii
Cutaneous anergy, Recurrent fungal infections, Recurrent upper respiratory tract infections, Recu... OMIM:209920
Endocardial Fibroelastosis
Endocardial fibroelastosis, Restrictive cardiomyopathy, Anterior hypopituitarism, Hypoglycemia ORPHA:2022
Muscular Dystrophy, Congenital, Merosin-Positive
Congenital muscular dystrophy, Flexion contracture, Shoulder girdle muscle weakness, Facial palsy... OMIM:609456
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Recurrent infections, Neutropenia, Agammaglobulinemia OMIM:615214
Congenital Disorder Of Glycosylation, Type Ih
Oligohydramnios, Abnormal heart morphology, Hypothyroidism, Camptodactyly, Patent ductus arterios... OMIM:608104
Immunodeficiency 47
Decreased circulating antibody level, Recurrent bacterial infections, Leukopenia, Splenomegaly OMIM:300972
Cushing Disease
Lipodystrophy, Truncal obesity, Failure to thrive, Diabetes mellitus, Generalized hirsutism, Adre... ORPHA:96253
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia, Decreased liver function, Hypoglycemia, Cardiomyopathy ORPHA:67048
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Polyhydramnios, Oligohydramnios, Ascites, Anemia, Splenomegaly ORPHA:1046
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly OMIM:619126
Perlman Syndrome
Cryptorchidism, Hyperinsulinemia, Hepatomegaly, Inguinal hernia, Femoral hernia, Abnormal pancrea... ORPHA:2849
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Abnormal Z disc mo... OMIM:618654
Dihydrolipoamide Dehydrogenase Deficiency
Elevated hepatic transaminase, Hypoglycemia, Hepatomegaly, Decreased liver function, Hypertrophic... OMIM:246900
Familial Multiple Lipomatosis
Lipodystrophy, Increased adipose tissue, Insulin resistance ORPHA:199276
Lipodystrophy, Congenital Generalized, Type 1
Decreased serum leptin, Cirrhosis, Hyperinsulinemia, Reduced intraabdominal adipose tissue, Hepat... OMIM:608594
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Hypoglycemia, Hepatic fibrosi... ORPHA:369
Stiff Skin Syndrome
Lipoatrophy, Type II diabetes mellitus ORPHA:2833
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Elevated hepatic transaminase, Limb-girdle muscular dystrophy, Rimmed vacuoles, Myopathy, Increas... OMIM:612937
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Low anterior hairline, Highly arched eyebrow, Microvesicular hepatic steatosis, Increased hepatoc... OMIM:220111
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
EMG: myopathic abnormalities, Muscular dystrophy, Muscle fiber splitting, Increased variability i... OMIM:253601
Hepatic Veno-Occlusive Disease
Hepatomegaly, Jaundice, Ascites, Elevated hepatic transaminase ORPHA:890
Sialidosis Type 2
Hydrops fetalis, Flexion contracture, Pedal edema, Hepatomegaly, Ascites, Skeletal muscle atrophy... ORPHA:87876
Neuraminidase Deficiency
Bone-marrow foam cells, Hydrops fetalis, Vacuolated lymphocytes, Facial edema, Hepatomegaly, Ingu... OMIM:256550
Cd8 Deficiency, Familial
Recurrent viral infections, Recurrent respiratory infections, Absence of CD8-positive T cells, Re... OMIM:608957
Congenital Toxoplasmosis
Elevated hepatic transaminase, Thrombocytopenia, Jaundice, Hepatomegaly, Ascites, Anemia ORPHA:858
Microcephalic Primordial Dwarfism, Montreal Type
Shagreen patch, Cryptorchidism, Premature graying of hair, Abnormal hair quantity, Lipoatrophy, A... ORPHA:2617
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections OMIM:233670
Chylous Ascites
Lymphedema, Ascites, Pancreatitis ORPHA:1160
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells OMIM:615607
Distal Myopathy, Tateyama Type
EMG: myopathic abnormalities, Abnormal muscle fiber protein expression, Intrinsic hand muscle atr... ORPHA:488650
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased circulating IgM level, Increased proportion autoreactive unresp... OMIM:618534
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased proportion of class-switched memory B cells, Cutaneous abscess, Increased circulating I... OMIM:618944
Lipodystrophy, Congenital Generalized, Type 2
Decreased serum leptin, Cirrhosis, Hyperinsulinemia, Reduced intraabdominal adipose tissue, Hepat... OMIM:269700
Ane Syndrome
Abnormal response to ACTH stimulation test, Adrenocorticotropin deficient adrenal insufficiency, ... ORPHA:157954
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Camptodactyly of toe, Hirsutism, Umbilical hernia, Inguinal hernia, Joint contrac... OMIM:175700
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemi... OMIM:619326
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Increased circulating IgE level, Recurrent funga... OMIM:102700
Ornithine Transcarbamylase Deficiency
Hypoglycemia ORPHA:664
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Ketotic hypoglycemia, Dehydration, Pulmonic stenosis ORPHA:79159
Infantile Sialic Acid Storage Disease
Hydrops fetalis, Vacuolated lymphocytes, Hepatomegaly, Death in childhood, Ascites, Splenomegaly OMIM:269920
Propionic Acidemia
Hepatomegaly, Cardiomyopathy, Hypoglycemia ORPHA:35
Immunodeficiency, Common Variable, 6
Autoimmune thrombocytopenia, Recurrent respiratory infections, Recurrent bacterial infections, Ch... OMIM:613496
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Hyperinsulinemia, Hyp... ORPHA:263455
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Flexion contracture, Increased variability in muscle fiber diameter OMIM:300717
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Abnormal muscle glycogen content, Polyhydramnios, Cirrhosis, Elevated hepatic transaminase, Flexi... ORPHA:367
Coronary Artery Disease, Autosomal Dominant 2
Impaired glucose tolerance, Diabetes mellitus, Glucose intolerance OMIM:610947
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Decreased testicular si... ORPHA:66628
Immunodeficiency 70
Decreased circulating antibody level, Decreased proportion of CD4-positive helper T cells, Recurr... OMIM:618969
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia ORPHA:6
Werner Syndrome
Slender build, Ovarian neoplasm, Premature graying of hair, Insulin resistance, Chondrocalcinosis... ORPHA:902
Caspase 8 Deficiency
Recurrent herpes, Complete or near-complete absence of specific antibody response to unconjugated... OMIM:607271
Immunodeficiency 34
Severe recurrent varicella, Recurrent mycobacterial infections OMIM:300645
Idiopathic Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Lipoatrophy, Absence of subcutaneous fat ORPHA:90158
Combined Oxidative Phosphorylation Deficiency 40
Death in infancy, Hypoglycemia, Neonatal death, Decreased liver function, Nonimmune hydrops fetal... OMIM:618835
Pediatric Hepatocellular Carcinoma
Hepatic fibrosis, Hepatic necrosis, Hepatomegaly ORPHA:33402
Combined Oxidative Phosphorylation Deficiency 42
Death in infancy, Hypoglycemia, Neonatal death, Decreased liver function, Nonimmune hydrops fetal... OMIM:618839
Poems Syndrome
Primary adrenal insufficiency, Hypothyroidism, Lipodystrophy, Leukonychia, Weight loss, Increased... ORPHA:2905
Multiple Acyl-Coa Dehydrogenase Deficiency
Scapular winging, Increased intramyocellular lipid droplets, Elevated hepatic transaminase, Abnor... ORPHA:26791
Rapidly Involuting Congenital Hemangioma
Hepatic hemangioma, Lipoatrophy ORPHA:141184
Analbuminemia
Lipodystrophy OMIM:616000
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Polyhydramnios, Type 1 fibers relatively smaller than type 2 fibers, Frontalis muscle weakness, F... OMIM:300580
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Hypergonadotropic hypogonadism, Lipodystrophy OMIM:212112
Myopathy, Scapulohumeroperoneal
Wrist drop, Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon contrac... OMIM:616852
Immunodeficiency With Hyper-Igm, Type 1
Impaired memory B cell generation, Increased circulating IgM level, Hemolytic anemia, Decreased c... OMIM:308230
Ruijs-Aalfs Syndrome
Hepatocellular carcinoma, Lipodystrophy, Elbow flexion contracture, Decreased body weight OMIM:616200
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Cryptorchidism, Atrophic scars, Atypical scarring of skin, Lipodystrophy, Flexion contracture, Sp... ORPHA:75496
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Decreased testicular si... ORPHA:179494
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
EMG: myopathic abnormalities, Macroglossia, Scapular winging, Abnormal macrophage morphology, Inc... ORPHA:353
Immunodeficiency 68
Abscess, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Immunodeficiency 36
Decreased circulating antibody level, Lymphopenia, Chronic lymphatic leukemia, Splenomegaly, Recu... OMIM:616005
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
T lymphocytopenia, Splenomegaly OMIM:608971
Selective Igm Deficiency
Cutaneous abscess, Decreased specific antibody response to vaccination, Recurrent urinary tract i... ORPHA:331235
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Ragged-red muscle fibers, Lower limb muscle weakness, Upper limb amyotrophy, Rimmed vacuoles, Upp... OMIM:616924
Glucocorticoid Resistance, Generalized
Hypoglycemia OMIM:615962
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Recurrent fungal infections, Recurrent viral infections, Recurrent sinopulmonary infections, Recu... OMIM:243700
Myofibrillar Myopathy 11
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Centrally nucleated skeletal muscle... OMIM:619178
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Wolman Disease
Bone-marrow foam cells, Hepatomegaly, Splenomegaly, Ascites, Hepatic failure, Anemia ORPHA:75233
Congenital Disorder Of Glycosylation, Type Im
Hypoketotic hypoglycemia OMIM:610768
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Insulin resistance, Hirsutism, Insulin-resista... ORPHA:90301
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Increased muscle lipid content, Hepatic steatosis, Hepatomegaly, M... OMIM:610717
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Myopathy, Hepatic steatosis, Cardiomyopathy ORPHA:26792
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter ORPHA:1878
Cholestasis, Progressive Familial Intrahepatic, 5
Cirrhosis, Elevated hepatic transaminase, Hypoglycemia, Jaundice, Edema, Hepatic failure OMIM:617049
Immunodeficiency 57 With Autoinflammation
Partial absence of specific antibody response to tetanus vaccine, T lymphocytopenia, Decreased ci... OMIM:618108
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent opportunistic infections, T lymphocytopenia, Absent natural killer cells, Chronic oral ... ORPHA:35078
Lymphoproliferative Syndrome 2
Hemophagocytosis, Decreased circulating antibody level, Pancytopenia, Hepatomegaly, Decreased lym... OMIM:615122
Congenital Short Bowel Syndrome
Lipoatrophy, Sparse hair ORPHA:2301
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of class-switched memory B cells, Increased proportion autoreactive unrespon... OMIM:615559
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Lipoatrophy, Sparse hair, Failure to thrive, Aplasia/Hypoplasia of the eyebrow ORPHA:261304
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent opportunistic infections, Lymphocytosis, Decreased proportion of CD8-positive T cells, ... ORPHA:911
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Progeroid Syndrome, Petty Type
Shagreen patch, Sparse hair, Abnormal hair morphology, Lipoatrophy, Long eyelashes in irregular r... ORPHA:2963
Pituitary Hormone Deficiency, Combined, 2
Hypoglycemic seizures, Neonatal hypoglycemia OMIM:262600
Childhood-Onset Nemaline Myopathy
Polyhydramnios, EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Scapular wingin... ORPHA:171439
Necrotizing Enterocolitis
Peritonitis, Abnormal heart morphology, Leukocytosis, Neutropenia, Thrombocytopenia, Edema, Ascit... ORPHA:391673
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Hypoglycemia, Glycosuria, Hepatomegaly, Jaundice, Neonatal death, Hepatic peri... OMIM:231680
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Hypoglycemia, Nonimmune hydrops fetalis, Anemia, Cardiomegaly OMIM:618838
Ovarian Hyperstimulation Syndrome
Ascites OMIM:608115
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Quadriceps muscle weakness, Pelvic girdle muscle weakness, Achilles tendon cont... OMIM:603689
Galactokinase Deficiency
Hyperinsulinemia, Hypergonadotropic hypogonadism, Hypoglycemia, Hepatomegaly, Small for gestation... ORPHA:79237
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Atrial septal defect, Elevated hepatic transaminase, Exocr... ORPHA:1667
Immunodeficiency 21
Myeloid leukemia, Monocytopenia, Recurrent fungal infections, Abnormal natural killer cell morpho... OMIM:614172
Hepatocellular Carcinoma
Abnormality of the hepatic vasculature, Thrombocytosis, Anasarca, Elevated hepatic transaminase, ... ORPHA:88673
Rabson-Mendenhall Syndrome
Fasting hypoglycemia, Low anterior hairline, Premature graying of hair, Insulin resistance, Enlar... ORPHA:769
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Central hypothyroidism, Decreas... ORPHA:453533
Shashi-Pena Syndrome
Atrial septal defect, Hypoglycemia OMIM:617190
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Neonatal hypoglycemia, Biventricular hypertrophy, Cardiomegaly, Ascites, Pulmonary ... OMIM:261740
Hypervitaminosis A, Susceptibility To
Ascites, Abnormality of the liver OMIM:240150
Bangstad Syndrome
Increased circulating cortisol level, Hyperinsulinemia, Abnormal testis morphology, Hypothyroidis... ORPHA:1227
Purine Nucleoside Phosphorylase Deficiency
Recurrent opportunistic infections, Pure red cell aplasia, Autoimmune thrombocytopenia, Recurrent... OMIM:613179
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Polycystic liver disease, Ascites OMIM:174050
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Hypoglycemia, Abnormal heart morphology ORPHA:231147
Carcinoid Syndrome
Intestinal carcinoid, Elevated hepatic transaminase, Atypical pulmonary carcinoid tumor, Small in... ORPHA:100093
Mu-Heavy Chain Disease
Abnormal B cell count, Anemia, Splenomegaly ORPHA:100024
Omenn Syndrome
Severe B lymphocytopenia, Recurrent fungal infections, Recurrent viral infections, Thrombocytopen... OMIM:603554
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Splenomega... OMIM:150550
Congenital Multicore Myopathy With External Ophthalmoplegia
Tibialis atrophy, Type 1 muscle fiber atrophy, Polyhydramnios, Internally nucleated skeletal musc... ORPHA:98905
Immunodeficiency 12
Recurrent viral infections, Recurrent bacterial infections OMIM:615468
Myopathy, Tubular Aggregate, 1
Proximal amyotrophy, Flexion contracture, Weakness of the intrinsic hand muscles, Type 2 muscle f... OMIM:160565
Osteopetrosis, Autosomal Recessive 5
Stillbirth, Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Hepatomegaly, Ascites, ... OMIM:259720
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Elliptocytosis, Hepatocellular necrosis, Reticulocytosis, Hepatomegaly,... OMIM:618278
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level, Disseminated nontuberculous myc... OMIM:300636
Classic Galactosemia
Elevated hepatic transaminase, Decreased serum insulin-like growth factor 1, Hypoglycemia, Hepato... ORPHA:79239
Mitochondrial Pyruvate Carrier Deficiency
Hepatomegaly, Hypoglycemia OMIM:614741
Combined Oxidative Phosphorylation Deficiency 52
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Adr... OMIM:619386
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hypoglycemia, Thrombocytopenia, ... OMIM:611126
Severe Combined Immunodeficiency, X-Linked
T lymphocytopenia, Recurrent fungal infections, Chronic oral candidiasis, Decreased circulating I... OMIM:300400
Griscelli Syndrome
Abnormality of neutrophils, Decreased circulating antibody level, Pedal edema, Thrombocytopenia, ... ORPHA:381
C3 Glomerulopathy
Lipodystrophy ORPHA:329918
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Defective B cell differentiation, Decrease... OMIM:617765
Body Mass Index Quantitative Trait Locus 19
Obesity, Insulin resistance OMIM:617885
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Myopathy, Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter OMIM:618992
Minicore Myopathy With External Ophthalmoplegia
Polyhydramnios, Hydrops fetalis, Type 1 and type 2 muscle fiber minicore regions, Muscular dystro... OMIM:255320
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Autoimmune hemolytic anemia, Reduced natur... OMIM:619374
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Recurrent hypoglycemia OMIM:618158
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased specific antibody response to vaccination, Thyroiditis, Pancytopenia, Decreased proport... OMIM:614700
Congenital Pulmonary Lymphangiectasia
Hydrops fetalis, Pleural effusion, Hepatomegaly, Ascites, Splenomegaly, Chylopericardium ORPHA:2414
Carnitine Palmitoyl Transferase 1A Deficiency
Elevated hepatic transaminase, Hypoglycemia, Hepatomegaly, Hepatic failure, Skeletal muscle atrop... ORPHA:156
Centrifugal Lipodystrophy
Lack of facial subcutaneous fat, Lipoatrophy, Absence of subcutaneous fat, Alopecia, Reduced subc... ORPHA:90156
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:610006
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Hepatomegaly, Ascites ORPHA:2198
Vipoma
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Adrenoco... ORPHA:97282
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Limb-girdle muscular dystrophy, Muscle fiber inclusion bodies, Rimmed vacuoles, Myopathy, Abnorma... OMIM:615424
Klippel-Trénaunay Syndrome
Atrial septal defect, Hydrops fetalis, Cellulitis, Abnormal tricuspid valve morphology, Microcyti... ORPHA:90308
Acrogeria
Lipoatrophy, Fine hair ORPHA:2500
Niemann-Pick Disease, Type A
Bone-marrow foam cells, Elevated circulating aspartate aminotransferase concentration, Microcytic... OMIM:257200
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Recurrent infections, Recurrent respiratory infections, Hypoglycemia ORPHA:364
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketotic hypoglycemia, Postprandial hyperglycemia, Failure to thrive, Glycosuria ORPHA:2089
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Decreased circulating IgG level, Increased... OMIM:615767
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Panhypopituitarism, Hypothyroidism, Lipodystrophy, Failure to thrive, Decreased response to growt... OMIM:618922
Combined Oxidative Phosphorylation Deficiency 47
Hepatomegaly, Dehydration, Elevated hepatic transaminase, Hypoglycemia OMIM:618958
Symptomatic Form Of Hemochromatosis Type 1
Cirrhosis, Hypothyroidism, Hepatocellular carcinoma, Weight loss, Hepatomegaly, Decreased serum t... ORPHA:465508
H Syndrome
Abnormal eyebrow morphology, Camptodactyly, Lipodystrophy, Delayed puberty, Hernia, Hypertrichosi... ORPHA:168569
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Triceps weakness, Type 1 muscle f... ORPHA:86812
Isolated Permanent Neonatal Diabetes Mellitus
Arthrogryposis multiplex congenita, Contractures of the joints of the lower limbs, Weight loss, G... ORPHA:99885
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Low anterior hairline, Insulin resistance, Hypoglycemia, Truncal obesity, Small for gestational a... ORPHA:73272
Immunodeficiency 67
Recurrent streptococcal infections, Increased circulating IgE level, Recurrent staphylococcal inf... OMIM:607676
Multiple Endocrine Neoplasia Type 4
Hyperinsulinemic hypoglycemia, Elevated circulating growth hormone concentration, Increased circu... ORPHA:276152
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Increased circulating IgE level, Recurrent fungal infections, Recurrent Staphylococcus aureus inf... OMIM:147060
Combined Oxidative Phosphorylation Deficiency 5
Edema, Death in infancy, Ascites OMIM:611719
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Gaucher Disease Type 1
Cirrhosis, Increased circulating antibody level, Pericardial effusion, Pedal edema, Biliary tract... ORPHA:77259
Bardet-Biedl Syndrome 9
Truncal obesity, Hyperglycemia, Obesity OMIM:615986
Cutis Laxa, Autosomal Recessive, Type Iia
Lipodystrophy, Coarse hair, Inguinal hernia, Brittle hair, Failure to thrive, Abnormality of hair... OMIM:219200
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Elevated hepatic transaminase, Decreased proportion of memory B cells, Panhypo... ORPHA:79124
Hypertriglyceridemia 1
Glucose intolerance OMIM:145750
Hyperlipoproteinemia, Type Iv
Glucose intolerance OMIM:144600
Combined Oxidative Phosphorylation Deficiency 10
Hypoglycemia OMIM:614702
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, Decreased proportion of CD4-positive helper T cells, Neonatal sepsis, Neutropenia,... ORPHA:169154
Familial Atrial Myxoma
Pedal edema, Cardiac myxoma, Cholestasis, Jaundice, Pulmonic valve myxoma, Cardiomegaly, Ascites,... ORPHA:615
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Neonatal hypoglycemia, Hypoglycemia ORPHA:231140
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Fasting hypoglycemia, Cirrhosis, Elevated hepatic transaminase, Abnormal heart morphology, Hepato... ORPHA:370
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent herpes, Failure to thrive secondary to recurrent infections, Chronic oral candidiasis, ... ORPHA:169160
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Internally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mu... OMIM:618138
Combined Malonic And Methylmalonic Acidemia
Dehydration, Elevated hepatic transaminase, Hypoglycemia ORPHA:289504
Aggressive Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Leukocytosis, Neutropenia, Pancytopenia, Thrombocytopen... ORPHA:98850
Mandibuloacral Dysplasia With Type B Lipodystrophy
Abnormal hair morphology, Insulin resistance, Delayed puberty, Alopecia, Generalized lipodystroph... ORPHA:90154
Pgm3-Cdg
Cutaneous abscess, Decreased proportion of CD4-positive helper T cells, Neutropenia, Increased ci... ORPHA:443811
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Hypoglycemia, Hepatomegaly, Distal arthrogrypos... ORPHA:42
Fanconi-Bickel Syndrome
Fasting hypoglycemia, Postprandial hyperglycemia, Impaired glucose tolerance, Hepatocellular carc... ORPHA:2088
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Pericardial effusion, Hepatomegaly, Cardiomegaly, Ventricular septal hyp... OMIM:115197
Somatostatinoma
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Adrenoco... ORPHA:97283
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Glucose intolerance, Hyperinsulinemia, Breast hypoplasi... ORPHA:785
Fucosidosis
Hypothyroidism, Lipoatrophy, Hepatomegaly, Hyperhidrosis, Failure to thrive, Abnormality of the g... ORPHA:349
Severe X-Linked Mitochondrial Encephalomyopathy
Increased connective tissue, Skeletal muscle atrophy, Increased variability in muscle fiber diameter ORPHA:238329
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Hyperinsulinemic hypoglycemia, Hepatic fibrosis, Hepatomegaly, Failure to thrive OMIM:602579
Keppen-Lubinsky Syndrome
Flexion contracture, Generalized lipodystrophy, Absence of subcutaneous fat, Failure to thrive OMIM:614098
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Dilated cardiomyopathy, Flexion contracture, Increased variability in muscle fiber diameter OMIM:300718
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Cirrhosis, Microvesicular hepatic steatosis, Elevated hepatic transaminase, Macrovesicular hepati... OMIM:256810
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, T lymphocytopenia, Absent natural killer cells, Recurrent upper respiratory tra... OMIM:600802
Budd-Chiari Syndrome
Peritonitis, Cirrhosis, Elevated hepatic transaminase, Cholecystitis, Acute hepatic failure, Hepa... ORPHA:131
Nestor-Guillermo Progeria Syndrome
Flexion contracture, Lipoatrophy, Sparse and thin eyebrow, Failure to thrive, Sparse eyelashes OMIM:614008
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypoglycemia OMIM:201910
Mehmo Syndrome
Delayed puberty, Male hypogonadism, Hypoglycemia, Decreased response to growth hormone stimuation... OMIM:300148
Premature Aging Syndrome, Penttinen Type
Lipoatrophy, Elevated circulating thyroid-stimulating hormone concentration, Sparse hair OMIM:601812
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
EMG: myopathic abnormalities, Scapular winging, Muscular dystrophy, Centrally nucleated skeletal ... OMIM:608423
Autoimmune Hepatitis
Acute hepatitis, Cirrhosis, Elevated hepatic transaminase, Viral hepatitis, Increased circulating... ORPHA:2137
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Dilated cardiomyopathy, Rhabdomyolysis, Hypoglycemia OMIM:618120
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hypoketotic hypoglycemia, Macrovesicular hepatic steatosis, Hepato... OMIM:600649
Timothy Syndrome
Ventricular septal defect, Hypothyroidism, Patent ductus arteriosus, Hypoglycemia, Cardiomegaly, ... OMIM:601005
Congenital Disorder Of Glycosylation, Type Il
Pericardial effusion, Hepatomegaly, Edema, Ascites, Abnormal cardiac septum morphology, Hepatospl... OMIM:608776
Oculopharyngeal Muscular Dystrophy
Ragged-red muscle fibers, Abnormal muscle fiber morphology, Rimmed vacuoles, Myopathy ORPHA:270
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Fasting hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis, Hypoglycemia, Hepatomegaly, He... OMIM:261680
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Decreased liver function, Elevated hepatic transaminase, Hypoglycemia, Atrial septal defect OMIM:615160
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Lipodystrophy, Achilles tendon contracture, Decreased cervical spine flexion due to contractures ... ORPHA:98855
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Fasting hypoglycemia, Cirrhosis, Elevated hepatic transaminase, Hepatocellular adenoma, Hepatic s... ORPHA:264580
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia, Recurrent bacterial infections OMIM:610738
Pseudo-Torch Syndrome 2
Elevated hepatic transaminase, Patent ductus arteriosus, Thrombocytopenia, Hepatomegaly, Decrease... OMIM:617397
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Polyhydramnios, Arthrogryposis multiplex congenita, Spinal muscular atrophy, Flexion contracture,... OMIM:616867
Mulibrey Nanism
Enamel hypoplasia, Myocardial fibrosis, Hydrops fetalis, Hepatomegaly, Cardiomegaly, Ascites, Per... OMIM:253250
Glycogen Storage Disease Ixc
Fasting hypoglycemia, Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile ... OMIM:613027
Caroli Disease
Cirrhosis, Leukocytosis, Intrahepatic cholestasis, Elevated circulating alanine aminotransferase ... ORPHA:53035
Proteasome-Associated Autoinflammatory Syndrome 3
Lipodystrophy, Panniculitis, Flexion contracture, Hepatomegaly, Failure to thrive, Splenomegaly OMIM:617591
Mitochondrial Myopathy, Infantile, Transient
Increased muscle glycogen content, Macroglossia, Increased muscle lipid content, Muscle fiber hyp... OMIM:500009
Mitchell-Riley Syndrome
Absent gallbladder, Annular pancreas, Biliary atresia, Cholestasis, Pancreatic hypoplasia, Hyperg... OMIM:615710
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Hand muscle weakness, Scapular wing... ORPHA:437572
Galactosemia
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Jaundice, Ascites, Hepatic failure, Abnor... ORPHA:352
Congenital Muscular Dystrophy, Ullrich Type
EMG: myopathic abnormalities, Abnormal muscle fiber morphology, Increased endomysial connective t... ORPHA:75840
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Elevated circulating alanine aminotransferase concentration, Death in infancy, Hypoglycemia, Neon... OMIM:245400
Cimdag Syndrome
Microvesicular hepatic steatosis, Lipodystrophy, Cholelithiasis, Hepatomegaly, Hypogonadism OMIM:619273
Xfe Progeroid Syndrome
Enamel hypoplasia, Ascites, Absence of subcutaneous fat, Elevated hepatic transaminase OMIM:610965
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Muscular dystrophy, Hypoglycemia, Adrenal insufficiency, Myopathy OMIM:307030
Autosomal Dominant Severe Congenital Neutropenia
Monocytosis, Lymphopenia, Leukemia, Neutropenia, Recurrent viral infections, Recurrent sinopulmon... ORPHA:486
Myopathy, Myofibrillar, 7
Type 2 muscle fiber predominance, Flexion contracture, Increased Z-disc width, Achilles tendon co... OMIM:617114
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Acute rhabdomyolysis, Camptodactyly of finger, Hypoglycemia, Hypogonadotropic hypogonadism ORPHA:48431
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent abscess formation, Recurrent Staphylococc... OMIM:613860
X-Linked Emery-Dreifuss Muscular Dystrophy
Lipodystrophy, Achilles tendon contracture, Decreased cervical spine flexion due to contractures ... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Lipodystrophy, Achilles tendon contracture, Decreased cervical spine flexion due to contractures ... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Lipodystrophy, Achilles tendon contracture, Decreased cervical spine flexion due to contractures ... ORPHA:98853
Pyruvate Carboxylase Deficiency
Hepatomegaly, Hypoglycemia OMIM:266150
Desmoplastic Small Round Cell Tumor
Abnormality of the peritoneum, Hepatomegaly, Ascites, Anemia, Neoplasm of the pancreas ORPHA:83469