Gene: Traf3 MGI:108041

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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:
TNF receptor-associated factor 3
Synonyms:
LAP1,  CAP-1,  CD40bp,  CRAF1

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 Traf3 mutations

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

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

The table below shows human diseases associated to Traf3 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Herpes Simplex Virus Encephalitis
Neutrophilia, Leukocytosis ORPHA:1930

The table below shows human diseases predicted to be associated to Traf3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level OMIM:146830
Gamma-A-Globulin, Defect In Assembly Of
Recurrent respiratory infections, Decreased circulating IgA level OMIM:137050
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunoglobulin Kappa Light Chain Deficiency
Recurrent infections, Abnormal immunoglobulin level OMIM:614102
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Immunodeficiency 11
Decreased circulating antibody level, Recurrent respiratory infections OMIM:615206
Immunodeficiency With Hyper-Igm, Type 2
Recurrent upper and lower respiratory tract infections, Decreased circulating IgA level, Recurren... OMIM:605258
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating insu... ORPHA:293964
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Agammaglobulinemia, Recurrent bacterial infections, Recurrent p... OMIM:613500
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Decreased circulating IgG level, Recurrent bacterial infections OMIM:242870
Immunodeficiency 24
Partial absence of specific antibody response to tetanus vaccine, Defective T cell proliferation,... OMIM:615897
Agammaglobulinemia 7, Autosomal Recessive
Recurrent infections, Agammaglobulinemia, Recurrent respiratory infections OMIM:615214
Immunodeficiency With Hyper-Igm, Type 3
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, De... OMIM:606843
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Recurrent infections, Decreased circulating antibody level, Agammaglobulinemia OMIM:616911
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Recurrent respiratory infections, Recurrent bacterial in... OMIM:613495
Immunodeficiency 35
Increased circulating IgE level, Recurrent fungal infections, Recurrent viral infections, Recurre... OMIM:611521
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia, Defective T cell proliferation OMIM:615615
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Immunodeficiency With Hyper-Igm, Type 5
Increased circulating IgM level, Recurrent upper and lower respiratory tract infections, Decrease... OMIM:608106
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
Immunodeficiency, Common Variable, 3
Decreased circulating total IgM, Recurrent otitis media, Recurrent sinusitis, Reduced isohemagglu... OMIM:613493
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Recurrent infections, Decreased circulating IgA level, Decreased... OMIM:616452
Immunoglobulin A Deficiency 1
Recurrent respiratory infections, Recurrent infections, Decreased circulating IgA level, Recurren... OMIM:137100
Short Stature Due To Ghsr Deficiency
Decreased serum insulin-like growth factor 1, Abnormality of body weight, Decreased body weight, ... ORPHA:314811
Immunodeficiency, Common Variable, 7
Recurrent urinary tract infections, Recurrent respiratory infections, Reduced isohemagglutinin le... OMIM:614699
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Agammaglobulinemia 8, Autosomal Dominant
Recurrent infections, Recurrent otitis media, Agammaglobulinemia OMIM:616941
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Decreased helper T cell proportion, Pancytopenia, Hypersplenism, Splenomegaly OMIM:183350
Immunoglobulin A Deficiency 2
Recurrent infection of the gastrointestinal tract, Decreased circulating IgA level, Recurrent sin... OMIM:609529
Reticular Dysgenesis
Congenital agranulocytosis, Lymphopenia, Lack of T cell function, Hypoplasia of the thymus, Impai... OMIM:267500
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Recurrent infections OMIM:235900
Glycogen Storage Disease Vi
Hypercholesterolemia, Hyperlipidemia, Hypoglycemia, Hepatomegaly, Hypertriglyceridemia, Failure t... OMIM:232700
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyp... OMIM:601820
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Increased circulating an... ORPHA:411593
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bronchitis, Recurrent otitis media, Agammaglobulinemia, Recurrent bacterial infections,... OMIM:613501
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Recurrent infections OMIM:606445
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Decreased circulating IgG level OMIM:247630
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia... OMIM:615285
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... OMIM:610021
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgG level, Increased circulating IgA level OMIM:144120
Immunodeficiency 50
Decreased circulating antibody level, Recurrent urinary tract infections, Recurrent respiratory i... OMIM:300988
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age, Neonatal hypoglycemia OMIM:240900
Combined Oxidative Phosphorylation Deficiency 34
Hepatic steatosis, Primary adrenal insufficiency, Hypoglycemia, Pancytopenia, Hepatomegaly, Failu... OMIM:617872
Short Stature Due To Partial Ghr Deficiency
Delayed puberty, Hypoglycemia, Decreased serum insulin-like growth factor 1 ORPHA:314802
Isolated Growth Hormone Deficiency, Type Ia
Impaired growth-hormone response to insulin stimulation test, Hypoglycemia, Decreased response to... OMIM:262400
Immunodeficiency, Common Variable, 14
Defective B cell differentiation, Decreased specific antibody response to vaccination, Recurrent ... OMIM:617765
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased circulating IgM level, Increased proportion autoreactive unresp... OMIM:618534
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Failure to thrive in infancy, B lymphocytop... OMIM:618987
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, T lymphocytopenia, Increased circulating IgE level, Lymphopenia, Lack of T cell f... ORPHA:277
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Hypoglycemia, Fasting ... ORPHA:263458
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased circulating I... OMIM:615513
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia OMIM:306000
Immunodeficiency 33
Decreased circulating total IgM, Recurrent bacterial infections, Increased circulating IgA level OMIM:300636
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Failure to thrive, Hypoglycemia, Anemia OMIM:610090
Immune Deficiency Disease
Decreased circulating total IgM, Recurrent viral infections, Recurrent bacterial infections OMIM:242850
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Recurrent bronchopulmonary infections OMIM:610798
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Agammaglobulinemia 6, Autosomal Recessive
Recurrent bronchitis, Recurrent otitis media, Agammaglobulinemia, Recurrent pneumonia, Recurrent ... OMIM:612692
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating IgE level, Recurrent upper respiratory tract infections, Recurrent otitis m... OMIM:618944
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgM level, Increased circulating IgE level, Decreased proportion of CD8-pos... OMIM:617241
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Agammaglobulinemia, Recurrent bacterial infections, ... OMIM:613502
Combined Oxidative Phosphorylation Deficiency 36
Failure to thrive, Hypoglycemia OMIM:617950
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Hyperinsulinism Due To Glucokinase Deficiency
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Type II diabetes... ORPHA:79299
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
T lymphocytopenia, Failure to thrive secondary to recurrent infections, Hepatomegaly, Splenomegal... OMIM:608971
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD69 upregulation upon TCR activation, Autoimmune thrombocytopenia, Decreased specific ... OMIM:300853
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia, Insulin resistance, Hypoglycemia, Truncal obesity, Type II diabetes mellitu... ORPHA:181393
Severe Combined Immunodeficiency, X-Linked
Recurrent fungal infections, Chronic oral candidiasis, Decreased circulating IgE, Agammaglobuline... OMIM:300400
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Neutropenia in presence of anti-neutropil ... OMIM:607594
Pituitary Hormone Deficiency, Combined, 4
Impaired growth-hormone response to insulin stimulation test, Hypothyroidism, Adrenal insufficien... OMIM:262700
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:601859
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Mu-Heavy Chain Disease
Increased circulating antibody level, Weight loss, Hepatomegaly, Abnormal B cell count, Anemia, S... ORPHA:100024
Immunodeficiency 25
Recurrent herpes, Recurrent pneumonia, Increased circulating IgM level, Increased circulating IgE... OMIM:610163
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Cernunnos-Xlf Deficiency
T lymphocytopenia, Decreased circulating antibody level, Lymphopenia, Thrombocytopenia, B lymphoc... ORPHA:169079
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia, Failure to thrive, Hypoglycemia ORPHA:67048
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Hypoglycemia OMIM:615158
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Defective T cell proliferation, Decreased proportion of CD8-positive T cells, R... OMIM:614493
Immunodeficiency, Common Variable, 13
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Mirage Syndrome
Cryptorchidism, Hypergonadotropic hypogonadism, Lymphopenia, Hypoglycemia, Decreased body weight,... OMIM:617053
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Griscelli Syndrome, Type 2
Hemophagocytosis, Hepatosplenomegaly, Reduced delayed hypersensitivity OMIM:607624
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Failure to thrive, Hypoglycemia ORPHA:67046
Polyendocrine-Polyneuropathy Syndrome
Hypogonadism, Central hypothyroidism, Hypoglycemia OMIM:616113
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia OMIM:609016
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Decreased proportion of... ORPHA:66628
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Decreased proportion of... ORPHA:179494
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemia,... OMIM:601457
Immunodeficiency, Common Variable, 2
Recurrent bronchitis, Partial absence of specific antibody response to unconjugated pneumococcus ... OMIM:240500
Immunodeficiency 72 With Autoinflammation
Recurrent infections, Recurrent otitis media, Increased circulating IgG level, Increased circulat... OMIM:618982
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, ... ORPHA:276608
Immunodeficiency With Hyper-Igm, Type 1
Impaired memory B cell generation, Cirrhosis, Increased circulating IgM level, Hemolytic anemia, ... OMIM:308230
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Increased circulating IgE level, Decreased proportion of CD8-po... ORPHA:169154
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent peripheral lymph nodes in presence of infection, T lymphocytopenia, Cutaneous anergy, Abse... OMIM:600802
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgM level, Recurrent otitis media, Recurrent oral herpes, Increased circula... OMIM:619220
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphadenitis, Autoimmune hemolytic anemia, Decreased proportion of CD3-positive T cells, Lymphop... ORPHA:331206
Galactokinase Deficiency
Hypercholesterolemia, Hyperinsulinemia, Hypergonadotropic hypogonadism, Hypoglycemia, Hepatomegal... ORPHA:79237
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia OMIM:615592
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Autoimmune hemolytic anemia, Reduced natur... OMIM:619374
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... OMIM:262190
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:619164
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Mehmo Syndrome
Male hypogonadism, Hypoglycemia, Obesity, Delayed puberty, Small for gestational age, Decreased r... OMIM:300148
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Cirrhosis, Hepatocellular carcinoma, Hyperlipidemia, Hypoglycemia, Hepatic fibrosis, Hepatomegaly... ORPHA:369
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Hypok... ORPHA:276556
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Dif... ORPHA:276575
Insulin-Resistance Syndrome Type B
Hyperinsulinemic hypoglycemia, Weight loss, Increased circulating IgG level, Leukopenia, Type II ... ORPHA:2298
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent herpes, Failure to thrive secondary to recurrent infections, Chronic oral candidiasis, ... ORPHA:169160
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating IgG ... ORPHA:859
Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia
Decreased circulating antibody level, Recurrent respiratory infections OMIM:618042
Candidiasis, Familial, 1
Cutaneous anergy, Abnormality of the endocrine system OMIM:114580
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Immunodeficiency 57 With Autoinflammation
Partial absence of specific antibody response to tetanus vaccine, T lymphocytopenia, Decreased ci... OMIM:618108
Lymphoproliferative Syndrome 3
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... OMIM:618261
Ornithine Transcarbamylase Deficiency
Hypoglycemia, Splenomegaly ORPHA:664
Immunodeficiency 47
Cirrhosis, Hepatic steatosis, Decreased circulating antibody level, Hepatomegaly, Prolonged neona... OMIM:300972
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Microvesicular hepatic steatosis, Hypoglycemia, Cholestasis, Jaundice, Failure to thrive OMIM:617156
Endocardial Fibroelastosis
Cryptorchidism, Anterior hypopituitarism, Hypoglycemia ORPHA:2022
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Exocrine pancreatic insufficiency... ORPHA:552
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
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating corticosterone level, Increased circulating renin level, Decreased circulat... OMIM:610600
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Decreased body weight, Small for gestational age, Neonatal hypoglycemia, Hypoglycemia ORPHA:231140
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Reticular Dysgenesis
Abnormality of neutrophils, Decreased circulating antibody level, Aplasia/Hypoplasia of the thymu... ORPHA:33355
Immunodeficiency, Common Variable, 10
Recurrent otitis media, Recurrent sinusitis, Recurrent oral herpes, Onychomycosis, Frequent Giard... OMIM:615577
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Lymphopenia, Abnormal T cell morphology, Failure to thrive, Hepatosplenome... OMIM:242700
Acute Erythroid Leukemia
Erythroid hypoplasia, Pancytopenia, Leukopenia, Anemia, Bone marrow hypocellularity ORPHA:318
Riboflavin Deficiency
Hypoglycemia OMIM:615026
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent opportunistic infections, Recurrent gastroenteritis, Chronic oral candidiasis, Recurren... ORPHA:275
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
T lymphocytopenia, Absent natural killer cells, Partial IgA deficiency, Lymphopenia, Impaired lym... ORPHA:35078
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Congenital hepatic fibrosis, Hypoglycemia ORPHA:446
Combined Oxidative Phosphorylation Deficiency 10
Failure to thrive, Small for gestational age, Hypoglycemia OMIM:614702
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Recurrent infections, Decreased circulating IgA level, Bronchiol... OMIM:614878
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Severe B lymphocytopenia, Decreased circulating ACTH level, Adrenocorticotropin deficient adrenal... ORPHA:293978
Immunodeficiency 14B, Autosomal Recessive
Recurrent sinusitis, Decreased circulating IgA level, Recurrent pneumonia, Decreased circulating ... OMIM:619281
Pancytopenia And Occlusive Vascular Disease
Thrombocytopenia, Leukopenia, Pancytopenia, Anemia OMIM:167850
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Immunodeficiency By Defective Expression Of Mhc Class Ii
T lymphocytopenia, Abnormal CD4:CD8 ratio, Chronic hepatitis due to cryptosporidium infection, Au... ORPHA:572
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent herpes, Recurrent Haemophilus influenzae infections, Recurrent opportunistic infections... ORPHA:276
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Hypoglycemia, Anemia OMIM:618838
Glycerol Kinase Deficiency
Cryptorchidism, Adrenocortical hypoplasia, Hypoglycemia, Adrenal insufficiency, Hypertriglyceride... OMIM:307030
Late-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Increased circulating renin level, Decreased circulating aldoste... ORPHA:556037
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Impaired T cell function, Decreased serum testosterone concentration, Failure to th... OMIM:201100
Nephrotic Syndrome, Type 14
Cryptorchidism, Hypothyroidism, Lymphopenia, Hypoglycemia, Adrenal insufficiency, Hypertriglyceri... OMIM:617575
Congenital Disorder Of Glycosylation, Type Im
Hypoketotic hypoglycemia, Failure to thrive OMIM:610768
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Bone marrow hypocellularity, Leukopenia OMIM:615715
Combined Oxidative Phosphorylation Deficiency 40
Decreased circulating cortisol level, Neonatal death, Hypoglycemia, Anemia OMIM:618835
Immunodeficiency 70
Decreased circulating antibody level, Recurrent sinusitis, Decreased circulating total IgG, Decre... OMIM:618969
Combined Oxidative Phosphorylation Deficiency 42
Decreased circulating cortisol level, Neonatal death, Hypoglycemia, Anemia OMIM:618839
Immunodeficiency 37
Decreased circulating antibody level, Recurrent infections OMIM:616098
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Early-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Increased circulating renin level, Decreased circulating aldoste... ORPHA:556030
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Absent tonsils, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positiv... OMIM:611926
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Small for gestational age, Hypoglycemia ORPHA:231147
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Hemolytic anemia, Increased circulating IgE level, Decreased specific anti-pol... OMIM:606367
Agammaglobulinemia 1, Autosomal Recessive
Decreased circulating antibody level, Recurrent otitis media, Recurrent sinusitis, Agammaglobulin... OMIM:601495
Pituitary Hormone Deficiency, Combined, 2
Hypoglycemic seizures, Panhypopituitarism, Neonatal hypoglycemia, Hypothyroidism, Adrenal insuffi... OMIM:262600
Glucocorticoid Deficiency 1
Decreased circulating cortisol level, Recurrent hypoglycemia, Failure to thrive, Increased circul... OMIM:202200
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Hepatic steatosis, Failure to thrive ORPHA:26792
Glycogen Storage Disease Ixc
Fasting hypoglycemia, Cirrhosis, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct prol... OMIM:613027
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Insulinoma
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Neoplasm of the adrenal gland, Pituitary prolact... ORPHA:97279
Histidinuria-Renal Tubular Defect Syndrome
Hypoglycemia ORPHA:2158
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level, Recurrent infections ORPHA:99811
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Hepatic steatosis, Failure to thrive, Hypoglycemia OMIM:619048
Combined Oxidative Phosphorylation Deficiency 47
Hepatomegaly, Cryptorchidism, Failure to thrive, Hypoglycemia OMIM:618958
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Cirrhosis, Fasting hypoglycemia, Hepatocellular adenoma, Hepatic steatosis,... ORPHA:264580
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90793
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia OMIM:616111
Gracile Bone Dysplasia
Failure to thrive, Hypoplastic spleen, Asplenia OMIM:602361
Immunodeficiency 13
T lymphocytopenia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Decreased CD... OMIM:615518
Carnitine Deficiency, Systemic Primary
Hepatic steatosis, Impaired gluconeogenesis, Hypoglycemia, Decreased carnitine level in liver, He... OMIM:212140
Acth Deficiency, Isolated
Fasting hypoglycemia, Adrenal hypoplasia, Decreased circulating cortisol level, Cholestasis, Jaun... OMIM:201400
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... ORPHA:231154
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Splenomegaly, Neonatal hypoglycemia, Failure to thrive, Macrocytic anemia OMIM:619046
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia ORPHA:35878
Glycogen Storage Disease Iii
Hepatic fibrosis, Hyperlipidemia, Hypoglycemia, Hepatomegaly OMIM:232400
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Hepatic... OMIM:251880
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia, Failure to thrive in infancy ORPHA:6
Immunodeficiency 46
Decreased circulating antibody level, Sepsis, Chronic oral candidiasis, Recurrent sinopulmonary i... OMIM:616740
Purine Nucleoside Phosphorylase Deficiency
Pure red cell aplasia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymph node hypop... OMIM:613179
2P21 Microdeletion Syndrome
Hypogonadism, Failure to thrive, Hypoglycemia ORPHA:163693
Pearson Syndrome
Reticulocytosis, Neutropenia, Pancreatic fibrosis, Pancytopenia, Small for gestational age, Anemi... ORPHA:699
Pyridoxal Phosphate-Responsive Seizures
Failure to thrive, Pyridoxine-responsive sideroblastic anemia, Hypoglycemia ORPHA:79096
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Cryptorchidism, Hypoglycemia, Congenital hypothyroidism, Failure to thrive, Precocious puberty OMIM:614736
Temple Syndrome
Cryptorchidism, Obesity, Small for gestational age, Type II diabetes mellitus, Recurrent hypoglyc... ORPHA:254516
Late-Onset Isolated Acth Deficiency
Decreased circulating ACTH level, Adrenocorticotropin deficient adrenal insufficiency, Graves dis... ORPHA:199299
Shashi-Pena Syndrome
Hypoglycemia OMIM:617190
Post-Traumatic Pituitary Deficiency
Panhypopituitarism, Decreased circulating ACTH level, Pituitary hypothyroidism, Hypoglycemia, Del... ORPHA:95619
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketotic hypoglycemia, Postprandial hyperglycemia, Glycosuria, Failure to thrive, Hyperlipidemia ORPHA:2089
Propionic Acidemia
Neutropenia, Hypoglycemia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Anemia, Pancreatitis, Fa... OMIM:606054
Immunodeficiency 67
Recurrent streptococcal infections, Increased circulating IgE level, Recurrent staphylococcal inf... OMIM:607676
Glucocorticoid Deficiency 2
Decreased circulating cortisol level, Recurrent hypoglycemia, Increased circulating ACTH level OMIM:607398
Smith-Kingsmore Syndrome
Cryptorchidism, Hypoglycemia, Thrombocytopenia, Decreased circulating IgA level, Large for gestat... OMIM:616638
Mpi-Cdg
Congenital hepatic fibrosis, Hypoglycemia ORPHA:79319
Pancreatic And Cerebellar Agenesis
Hypoglycemia, Pancreatic hypoplasia, Anemia, Failure to thrive, Hyperglycemia, Diabetes mellitus OMIM:609069
Lymphoproliferative Syndrome 1
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased circulating antibody level, D... OMIM:613011
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infections ORPHA:2643
Immunodeficiency 60
Decreased circulating IgE, Recurrent sinopulmonary infections, Decreased circulating IgA level, D... OMIM:618394
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Cirrhosis, Hypercholesterolemia, Vacuolated lymphocytes, Increased hepati... OMIM:278000
Autoimmune Lymphoproliferative Syndrome, Type V
Recurrent upper respiratory tract infections, Decreased circulating antibody level, Decreased cir... OMIM:616100
Mitochondrial Pyruvate Carrier Deficiency
Hepatomegaly, Hypoglycemia OMIM:614741
Hemochromatosis, Neonatal
Cirrhosis, Hepatocellular necrosis, Hypoglycemia, Cholestasis, Hepatic fibrosis, Prolonged neonat... OMIM:231100
Combined Malonic And Methylmalonic Acidemia
Failure to thrive, Hypoglycemia ORPHA:289504
Laron Syndrome
Hypercholesterolemia, Hypoglycemia, Delayed puberty, Truncal obesity, Abnormality of the endocrin... ORPHA:633
Autoimmune Polyendocrinopathy Type 4
Autoimmune thrombocytopenia, Anterior pituitary dysgenesis, Hypergonadotropic hypogonadism, Decre... ORPHA:227990
Dihydrolipoamide Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia OMIM:246900
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Anemia ORPHA:3204
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Neonatal hypoglycemia, Hyp... ORPHA:263455
Congenital Isolated Acth Deficiency
Hypoglycemic seizures, Adrenal hypoplasia, Adrenocorticotropin deficient adrenal insufficiency, N... ORPHA:199296
Autoimmune Polyendocrinopathy Type 3
Graves disease, Autoimmune thrombocytopenia, Anterior pituitary dysgenesis, Hypergonadotropic hyp... ORPHA:227982
Combined Oxidative Phosphorylation Deficiency 52
Hepatic steatosis, Adrenal insufficiency, Hypoglycemia, Pancreatitis OMIM:619386
X-Linked Lymphoproliferative Disease
Lymphocytosis, Pancytopenia, Histiocytosis, Increased B cell count, Lymphadenopathy, Cervical lym... ORPHA:2442
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Cirrhosis, Microvesicular hepatic steatosis, Macrovesicular hepatic steatosis, Hypoglycemia, Hepa... OMIM:256810
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Increased hepatocellular lipid droplets, Hypoglycemia, Failure ... OMIM:220111
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Increased circulating IgM level, Recurrent bacterial infections, ... OMIM:300291
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Type I diabetes mellitus, Small for gestational age, Diabetic ketoacidos... OMIM:618858
Pituitary Stalk Interruption Syndrome
Cryptorchidism, Adrenal hypoplasia, Hypothyroidism, Ectopic posterior pituitary, Hypoglycemia, De... ORPHA:95496
Classic Galactosemia
Cryptorchidism, Decreased serum insulin-like growth factor 1, Hypoglycemia, Hepatomegaly, Jaundic... ORPHA:79239
Cholestasis, Progressive Familial Intrahepatic, 5
Jaundice, Cirrhosis, Failure to thrive, Hypoglycemia OMIM:617049
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hypoglycemia ORPHA:364
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Central hypothyroidism, Decreas... ORPHA:453533
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infections OMIM:251190
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypercholesterolemia, Cirrhosis, Fasting hypoglycemia, Hepatocellular adenoma, Hepatocellular car... ORPHA:370
Proprotein Convertase 1/3 Deficiency
Hypogonadotropic hypogonadism, Decreased circulating cortisol level, Reactive hypoglycemia, Obesity OMIM:600955
Propionic Acidemia
Hepatomegaly, Hypoglycemia ORPHA:35
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal death, Failure to thrive, Hypoglycemia OMIM:245400
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Hypoglycemia, Hepatomegaly, Cholestatic liver disease, Failure to thrive ORPHA:5
Immunodeficiency 68
T lymphocytopenia, Lymphadenitis, Abnormal natural killer cell count, B lymphocytopenia, Abscess OMIM:612260
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Small for gestational age, Hypoglycemia OMIM:615160
Donohue Syndrome
Ovarian cyst, Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Cholestasis, He... OMIM:246200
Adrenocortical Carcinoma
Abnormal circulating dehydroepiandrosterone concentration, Paradoxical increased cortisol secreti... ORPHA:1501
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Hypoglycemia, Truncal obesity, Small for gestational age, Failure to thrive, ... ORPHA:73272
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Small for gestational age, Hypoglycemia ORPHA:231137
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Recurrent hypoglycemia OMIM:618158
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypogonadotropic hypogonadism, Hypoglycemia ORPHA:48431
Autoimmune Polyendocrine Syndrome, Type Ii
Iron deficiency anemia, Cirrhosis, Exocrine pancreatic insufficiency, Primary adrenal insufficien... OMIM:269200
Bare Lymphocyte Syndrome, Type Ii
Cutaneous anergy, Viral hepatitis, Panhypogammaglobulinemia, Neutropenia, Biliary tract abnormali... OMIM:209920
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome, Hypoglycemia OMIM:201910
Combined Oxidative Phosphorylation Deficiency 37
Failure to thrive, Hypoglycemia OMIM:618329
Familial Glucocorticoid Deficiency
Hypoglycemic seizures, Cryptorchidism, Impaired cortisol response to insulin stimulation test, De... ORPHA:361
Pyruvate Dehydrogenase E3 Deficiency
Hepatomegaly, Failure to thrive, Hypoglycemia ORPHA:2394
Laterality Defects, Autosomal Dominant
Asplenia OMIM:601086
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia OMIM:618948
Addison Disease
Androgen insufficiency, Adrenal hypoplasia, Thiamine-responsive megaloblastic anemia, Primary adr... ORPHA:85138
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Splenomega... OMIM:150550
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypoglycemia, Glycosuria, Hepatomegaly, Diabetes mellitus, Large for gestational age OMIM:616026
Sheehan Syndrome
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Breast hypoplasia, Decre... ORPHA:91355
Pituitary Apoplexy
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Hypergon... ORPHA:95613
Beta-Ketothiolase Deficiency
Thrombocytosis, Leukocytosis, Hypoglycemia, Weight loss, Hepatomegaly, Hyperglycemia ORPHA:134
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Hypothyroidism, Hypoglycemia, Decreased body weight, Delayed puberty, Small for gestational age, ... ORPHA:391408
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, Autoimmune thro... OMIM:102700
Fanconi-Bickel Syndrome
Fasting hypoglycemia, Postprandial hyperglycemia, Hepatocellular carcinoma, Impaired glucose tole... ORPHA:2088
Omenn Syndrome
Severe B lymphocytopenia, Thrombocytopenia, Hypoplasia of the thymus, B lymphocytopenia, Anemia, ... OMIM:603554
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Hyperactive renin-angiotensin system, Macroorchidism, Hypog... ORPHA:90790
Multiple Endocrine Neoplasia, Type I
Prolactinoma, Adrenocortical adenoma, Elevated circulating growth hormone concentration, Increase... OMIM:131100
Ataxia-Telangiectasia
Defective B cell differentiation, T lymphocytopenia, Glucose intolerance, Decreased proportion of... OMIM:208900
Schimke Immuno-Osseous Dysplasia
Abnormal proportion of naive CD4 T cells, Lymphopenia, Decreased proportion of naive CD8 T cells,... ORPHA:1830
Lichtenstein Syndrome
Recurrent respiratory infections, Recurrent infections, Decreased circulating IgA level OMIM:246550
Solitary Fibrous Tumor/Hemangiopericytoma
Abnormality of the peritoneum, Hypoglycemia, Neoplasm of the liver, Hypoinsulinemia, Weight loss,... ORPHA:2126
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Decreased proportion of memory B cells, Panhypogammaglobulinemia, Abnormal nat... ORPHA:79124
Pyridoxine-Dependent Epilepsy
Hypoglycemia ORPHA:3006
Renal-Hepatic-Pancreatic Dysplasia 2
Stillbirth, Cholestasis, Hepatic fibrosis, Hepatomegaly, Asplenia OMIM:615415
Mitochondrial Complex I Deficiency, Nuclear Type 20
Thrombocytopenia, Microvesicular hepatic steatosis, Hypoglycemia OMIM:611126
Hypoglossia With Situs Inversus
Polysplenia, Asplenia OMIM:612776
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Impaired T cell function, Fa... OMIM:258900
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Abnormal circulating dehydroepiandrosterone concentration, Cryptorchidism, Increased circulating ... ORPHA:90791
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Hypothyroidism, Failure to thrive, Neutropenia, Hypoglycemia OMIM:618005
Hsd10 Mitochondrial Disease
Hypoglycemia OMIM:300438
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Failure to thrive, Hypoglycemia OMIM:614739
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatomegaly, Hypoglycemia, Transient hyperlipidemia ORPHA:156
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia ORPHA:79159
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Hypotonia-Cystinuria Syndrome
Hypergonadotropic hypogonadism, Neonatal hypoglycemia, Failure to thrive, Decreased response to g... OMIM:606407
Pyruvate Carboxylase Deficiency
Hepatomegaly, Hypoglycemia OMIM:266150
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Hypoglycemia, Anemia OMIM:246450
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Cryptorchidism, Elevated circulating luteinizing hormone level, Decreased circulating androgen co... ORPHA:90796
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Fasting hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis, Hypoglycemia, Hepatomegaly OMIM:261680
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hepatic steatosis, Cachexia, Hypoglycemia ORPHA:42
Epilepsy-Telangiectasia Syndrome
Decreased circulating antibody level, Decreased circulating IgA level ORPHA:1951
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Male hypogonadism, Decreased circulating parathyroid hormone level, Chronic active hepatitis, Pri... OMIM:240300
Acute Adrenal Insufficiency
Androgen insufficiency, Adrenal hypoplasia, Primary adrenal insufficiency, Decreased circulating ... ORPHA:95409
Shigellosis
Peritonitis, Microangiopathic hemolytic anemia, Splenic abscess, Leukocytosis, Hypoglycemia, Chol... ORPHA:810
Glycogen Storage Disease Ib
Xanthelasma, Hepatocellular carcinoma, Neutropenia, Hypoglycemia, Hepatomegaly, Delayed puberty, ... OMIM:232220
Glucocorticoid Resistance, Generalized
Hypoglycemia OMIM:615962
3-Methylglutaconic Aciduria Type 7
Neonatal hypoglycemia, Hepatic steatosis, Hypothyroidism, Neutropenia, Infection associated neutr... ORPHA:445038
Wiskott-Aldrich Syndrome, Autosomal Dominant
Iron deficiency anemia, Decreased mean platelet volume, Hemolytic anemia, Increased circulating I... OMIM:600903
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Cryptorchidism, Hypothyroidism, Delayed puberty, Small for gestational age, Recurrent hypoglycemia OMIM:616817
Pgm3-Cdg
T lymphocytopenia, Abnormal CD4:CD8 ratio, Cutaneous abscess, Hemolytic anemia, Increased circula... ORPHA:443811
Congenital Disorder Of Glycosylation, Type Iil
Cirrhosis, Decreased specific anti-polysaccharide antibody level, Cholestasis, Pancytopenia, Thro... OMIM:614576
Microphthalmia, Syndromic 9
Cryptorchidism, Hypoplastic spleen, Multilobulated spleen OMIM:601186
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, B lymphocytopenia, Increased circulating IgE level ORPHA:217390
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:610006
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemic seizures, Xanthelasma, Hypercholesterolemia, Hepatocellular adenoma, Hepatocellular ... ORPHA:79259
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Hepatic steatosis, H... ORPHA:71212
Silver-Russell Syndrome 1
Fasting hypoglycemia, Hepatocellular carcinoma, Testicular seminoma, Small for gestational age, D... OMIM:180860
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Failure to thrive, Acute hepatic steatosis, Hypoglycemia OMIM:210200
Silver-Russell Syndrome Due To A Point Mutation
Hypothyroidism, Cryptorchidism, Small for gestational age, Hypoglycemia ORPHA:397590
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hypoglycemia OMIM:618253
3-Hydroxy-3-Methylglutaric Aciduria
Thrombocytosis, Leukocytosis, Nonketotic hypoglycemia, Weight loss, Acute pancreatitis, Hepatomeg... ORPHA:20
Stormorken Syndrome
Thrombocytopenia, Asplenia, Howell-Jolly bodies, Anemia OMIM:185070
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Hypoglycemia OMIM:618120
Hypoadrenocorticism, Familial
Adrenal insufficiency, Adrenal hypoplasia, Hypoglycemia OMIM:240200
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal response to ACTH stimulation test, Cryptorchidism, Abnormal response to human chorionic ... ORPHA:95699
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Hepatic steatosis, Hypoketotic hypoglycemia, Transient hyperlipidemia OMIM:255120
Wiskott-Aldrich Syndrome
Iron deficiency anemia, Decreased mean platelet volume, Increased circulating IgE level, Decrease... OMIM:301000
Timothy Syndrome
Hypothyroidism, Hypoglycemia OMIM:601005
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Hypoglycemia, Glycosuria, Hepatomegaly, Jaundice, Neonatal death, Hepatic peri... OMIM:231680
Congenital Disorder Of Glycosylation, Type Iie
Hypoglycemia, Hepatomegaly, Jaundice, Failure to thrive, Splenomegaly OMIM:608779
Selective Igm Deficiency
Recurrent herpes, Recurrent bronchitis, Chronic oral candidiasis, Recurrent upper respiratory tra... ORPHA:331235
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Hyperinsulinemia, Anemia, Insulin resistance ORPHA:230
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating antibody level, Decreased circulating IgG level, Decreased circulating IgA ... OMIM:617062
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Neonatal hypoglycemia, Hypoglycemia, Neonatal death, Small for gestational age, Failure to thrive OMIM:619055
Vici Syndrome
Cutaneous anergy, Decreased proportion of CD4-positive helper T cells, Decreased circulating IgG2... OMIM:242840
Silver-Russell Syndrome 2
Neonatal hypoglycemia OMIM:618905
Acyl-Coa Dehydrogenase 9 Deficiency
Thrombocytopenia, Hepatic steatosis, Nonketotic hypoglycemia, Failure to thrive ORPHA:99901
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Pigmented Nodular Adrenocortical Disease, Primary, 2
Paradoxical increased cortisol secretion on dexamethasone suppression test, Decreased circulating... OMIM:610475
Pigmented Nodular Adrenocortical Disease, Primary, 1
Paradoxical increased cortisol secretion on dexamethasone suppression test, Decreased circulating... OMIM:610489
Glutaric Acidemia I
Hepatomegaly, Failure to thrive, Hypoglycemia OMIM:231670
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Fasting hypoglycemia, Decreased response to growth hormone stimuation test ORPHA:436174
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Panhypopituitarism, Decreased circulating ACTH level, Decreased circulating follicle stimulating ... ORPHA:226307
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased specific antibody response to vaccination, Recurrent otitis media, Recurrent sinusitis,... OMIM:614700
Mental Retardation, Autosomal Dominant 35
Hypoglycemia OMIM:616355
Tyrosinemia, Type I
Cirrhosis, Hepatocellular carcinoma, Hypoglycemia, Hepatomegaly, Failure to thrive, Splenomegaly,... OMIM:276700
Bachmann-Bupp Syndrome
Cryptorchidism, Large for gestational age, Hypoglycemia OMIM:619075
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Decreased circulating IgA level, Cryptorchidism, Large for gestational age, Neonatal hypoglycemia ORPHA:457485
Cog8-Cdg
Failure to thrive, Hypoglycemia ORPHA:95428
Silver-Russell Syndrome
Cryptorchidism, Insulin resistance, Premature adrenarche, Failure to thrive in infancy, Cachexia,... ORPHA:813
Xq28 (MECP2) duplication
Recurrent respiratory infections, Decreased circulating IgA level DECIPHER:45
Hepatocellular Carcinoma
Abnormality of the hepatic vasculature, Thrombocytosis, Hemobilia, Polycythemia, Hypoglycemia, We... ORPHA:88673
Congenital Disorder Of Glycosylation, Type It
Hepatic steatosis, Intrahepatic cholestasis, Hypoglycemia, Hepatitis, Delayed puberty, Increased ... OMIM:614921
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatic necrosis, Hepatic steatosis, Hypoglycemic seizures, Hypoketotic hypoglycemia OMIM:231530
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Hepatic steatosis, Hypoglycemia OMIM:201450
Fructose-1,6-Bisphosphatase Deficiency
Fasting hypoglycemia, Neonatal hypoglycemia, Hepatic steatosis, Hypoglycemia, Hepatomegaly ORPHA:348
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Recurrent fungal infections, Chronic oral candidiasis, Decreased circulating total IgM, Decreased... ORPHA:221139
Infantile Liver Failure Syndrome 2
Jaundice, Hypoglycemia OMIM:616483
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Increased circulating cortisol level, Abnormal circulating test... ORPHA:786
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Hypoketotic hypoglycemia, Macrovesicular hepatic steatosis OMIM:600649
Dilated Cardiomyopathy With Ataxia
Hypochromic microcytic anemia, Microvesicular hepatic steatosis, Neonatal hypoglycemia, Hypothyro... ORPHA:66634
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Hypoglycemia, Obesity OMIM:608624
Hsd10 Disease, Infantile Type
Hypoglycemia ORPHA:391428
Maple Syrup Urine Disease
Hypoglycemia, Pancreatitis OMIM:248600
Rabson-Mendenhall Syndrome
Fasting hypoglycemia, Insulin resistance, Enlarged ovaries, Hypothyroidism, Increased circulating... ORPHA:769
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Thrombocytosis, Increased circulating IgE level, Defective T cell proliferati... OMIM:618213
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Hepatic steatosis, Neonatal hypoglycemia, Hypoglycemia OMIM:212138
Malonyl-Coa Decarboxylase Deficiency
Hypoglycemia OMIM:248360
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Cryptorchidism, Elevated circulating luteinizing hormone level, Decreased circulating androgen co... ORPHA:289548
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia OMIM:616095
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Microvesicular hepatic steatosis, Hypoglycemia, Cholestasis, Cholangitis, Failure to thrive OMIM:124000
Mitochondrial Trifunctional Protein Deficiency
Hypoketotic hypoglycemia, Small for gestational age, Failure to thrive, Cholestasis OMIM:609015
Leigh Syndrome
Hypoglycemia, Failure to thrive, Neutropenia, Anemia ORPHA:506
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Hepatic cysts, Pancreatic cysts, Polysplenia, Biliary cirrhosis, Pancreatic fibrosis, ... OMIM:208540
Hereditary Orotic Aciduria
Impaired T cell function, Anemia, Splenomegaly ORPHA:30
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Cryptorchidism, Elevated circulating luteinizing hormone level, Decreased circulating androgen co... ORPHA:168558
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypoglycemia OMIM:618241
Mitochondrial Trifunctional Protein Deficiency
Hypoketotic hypoglycemia, Failure to thrive in infancy, Cholestasis, Hypoparathyroidism, Diffuse ... ORPHA:746
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Overweight, Hypoketotic hypoglycemia, Hepatomegaly, Jaundice, Small for gestational age, Increase... ORPHA:26793
Deeah Syndrome
Panhypopituitarism, Cryptorchidism, Exocrine pancreatic insufficiency, Neonatal hypoglycemia, Dec... OMIM:619004
Transcobalamin Ii Deficiency
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:275350
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Megaloblastic anemia, Neutropenia, Hypoglycemia, Thrombocytopenia, Jaundice, Failure to thrive ORPHA:79282
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Glycogen Storage Disease Ia
Xanthelasma, Hepatocellular carcinoma, Hypoglycemia, Hepatomegaly, Delayed puberty, Pancreatitis,... OMIM:232200
Immunodeficiency 27A
Increased circulating IgG level, Increased circulating IgM level OMIM:209950
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Acute pancreatitis, Hypoglycemia, Hepatic periportal necrosis ORPHA:26791
Isolated Complex I Deficiency
Hepatomegaly, Failure to thrive, Diabetes mellitus, Hypoglycemia ORPHA:2609
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatic steatosis, Periportal fibrosis, Nonketotic hypoglycemia, Hepatom... OMIM:201475
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90794
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Failure to thrive, Hypoglycemia OMIM:210210
Holoprosencephaly
Panhypopituitarism, Cryptorchidism, Hypoglycemia, Failure to thrive in infancy, Diabetes insipidu... ORPHA:2162
Immunodeficiency 23
Increased circulating IgM level, Increased circulating IgE level, Recurrent staphylococcal infect... OMIM:615816
Tenorio Syndrome
Hypoinsulinemia, Hypoglycemia OMIM:616260
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Hypoglycemia OMIM:617710
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoglycemia OMIM:615751
Leprechaunism
Fasting hypoglycemia, Hyperinsulinemia, Insulin resistance, Enlarged ovaries, Recurrent infantile... ORPHA:508
Microgastria-Limb Reduction Defects Association
Cryptorchidism, Biliary tract abnormality, Asplenia, Failure to thrive, Absent gallbladder, Splen... OMIM:156810
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Hypoglycemia OMIM:229700
Apparent Mineralocorticoid Excess
Abnormality of circulating cortisol level, Decreased circulating renin level, Decreased circulati... ORPHA:320
Non-Acquired Panhypopituitarism
Decreased circulating ACTH level, Ectopic anterior pituitary gland, Absence of secondary sex char... ORPHA:90695
Bloom Syndrome
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:210900
Wars2-Related Combined Oxidative Phosphorylation Defect
Thrombocytopenia, Neonatal hypoglycemia ORPHA:572798
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level OMIM:215250
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Cryptorchidism, Fasting hypoglycemia, Insulin resistance, Premature adrenarche, Small for gestati... ORPHA:96182
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Supernumerary nipple, Hypoglycemia ORPHA:457279
Glycogen Storage Disease Ic
Xanthelasma, Chronic pancreatitis, Hepatocellular carcinoma, Hypoglycemia, Hepatomegaly, Delayed ... OMIM:232240
Sweeney-Cox Syndrome
Asplenia, Bilateral cryptorchidism OMIM:617746
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Compensated hypothyroidism, Hypoglycemic seizures, Hypoglycemia ORPHA:480864
Beckwith-Wiedemann Syndrome
Cryptorchidism, Exocrine pancreatic insufficiency, Neonatal hypoglycemia, Pseudohypoparathyroidis... ORPHA:116
Sting-Associated Vasculopathy, Infantile-Onset
Increased circulating IgG level, Recurrent infections, Recurrent respiratory infections, Increase... OMIM:615934
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatomegaly, Hepatic steatosis, Hypoketotic hypoglycemia ORPHA:228305
Simpson-Golabi-Behmel Syndrome
Cryptorchidism, Increased circulating IgE level, Polysplenia, Hepatoblastoma, Hypoglycemia, Hepat... ORPHA:373
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Hypothyroidism, Hypoglycemia, Premature thelarche, Premature pubarche OMIM:616878
Thymoma
Hemolytic anemia, Decreased circulating antibody level, Abnormal lymphocyte morphology, Pancytope... ORPHA:99867
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Hashimoto thyroiditis, Abnormal B cell morphology, Decreased response to grow... OMIM:618223
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Nonketotic hypoglycemia, Macrovesicular hepatic steatosis, Hepatomegaly, Hepatic calcification, L... OMIM:608836
Cardiofacioneurodevelopmental Syndrome
Cryptorchidism, Abdominal situs inversus, Asplenia OMIM:619123
Bannayan-Riley-Ruvalcaba Syndrome
Hashimoto thyroiditis, Hypoglycemia, Thyroid carcinoma, Cachexia, Neoplasm of the adrenal cortex ORPHA:109
Sarcoidosis, Susceptibility To, 1
Abnormality of T cell physiology, Enlarged lacrimal glands, Increased circulating antibody level,... OMIM:181000
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Hypoketotic hypoglycemia, Fasting hypoglycemia ORPHA:159
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Increased circulating IgM level, Decreased circulating IgA level OMIM:242860
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, Decreased circulating antibody level, Sideroblastic anemia, B lymp... OMIM:616084
Pyruvate Carboxylase Deficiency
Hepatomegaly, Hyperglycemia, Failure to thrive, Hypoglycemia ORPHA:3008
Angiostrongyliasis
Increased circulating IgG level, Increased circulating IgM level, Increased circulating specific ... ORPHA:74
Boutonneuse Fever
Increased circulating IgG level, Increased circulating IgM level ORPHA:83313
Primary Ciliary Dyskinesia
Polysplenia, Asplenia ORPHA:244
Ciliary Dyskinesia, Primary, 1
Asplenia OMIM:244400
Combined Oxidative Phosphorylation Defect Type 39
Cryptorchidism, Neonatal hypoglycemia ORPHA:565624
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hepatomegaly, Failure to thrive, Hypoglycemia OMIM:252010
Immunodeficiency 58
Cutaneous abscess, Decreased specific antibody response to vaccination, Decreased circulating ant... OMIM:618131
Rasmussen Subacute Encephalitis
Decreased circulating total IgA ORPHA:1929
Heterotaxy, Visceral, 1, X-Linked
Biliary atresia, Abdominal situs inversus, Polysplenia, Asplenia, Failure to thrive OMIM:306955
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Hypoglycemia OMIM:619355
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Hypoketotic hypoglycemia, Hepatic calcification, Hyperlipidemia ORPHA:157
Right Atrial Isomerism
Polysplenia, Abdominal situs ambiguus, Asplenia OMIM:208530
Orthostatic Hypotension 1
Neonatal hypoglycemia OMIM:223360
Kabuki Syndrome 2
Neonatal hypoglycemia, Decreased body weight OMIM:300867
Visceral Steatosis, Congenital
Hepatic steatosis, Jaundice, Neonatal death, Hypoglycemia OMIM:228100
Autoinflammation With Arthritis And Dyskeratosis
Increased circulating IgG level, Increased circulating IgA level OMIM:617388
Mosaic Trisomy 9
Abnormal liver lobulation, Cryptorchidism, Asplenia ORPHA:99776
Tempi Syndrome
Increased circulating IgG level ORPHA:284227
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Neutropenia, Reticulocytopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Leukope... ORPHA:508542
Fructose Intolerance, Hereditary
Cirrhosis, Hepatic steatosis, Hypoglycemia, Glycosuria, Hepatomegaly, Jaundice, Failure to thrive OMIM:229600
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatic steatosis, Hypoketotic hypoglycemia, Hepatomegaly, Hepatic calcification, Hyperlipidemia ORPHA:228308
Combined Pituitary Hormone Deficiencies, Genetic Forms
Decreased circulating ACTH level, Ectopic anterior pituitary gland, Absence of secondary sex char... ORPHA:95494
Cerebral Visual Impairment
Neonatal hypoglycemia ORPHA:447788
Bloom Syndrome
Recurrent herpes, Recurrent tonsillitis, Recurrent gastroenteritis, Decreased circulating antibod... ORPHA:125
Feingold Syndrome 1
Polysplenia, Asplenia, Accessory spleen, Annular pancreas OMIM:164280
Riddle Syndrome
Recurrent sinusitis, Recurrent viral infections, Decreased circulating IgA level, Recurrent pneum... ORPHA:420741
Osteopetrosis, Autosomal Recessive 7
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:612301
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hepatomegaly, Hepatic steatosis, Failure to thrive, Hypoglycemia ORPHA:17
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Asplenia, Annular pancreas ORPHA:210122
Histiocytoid Cardiomyopathy
Hepatomegaly, Failure to thrive, Hypoglycemia, Polycystic ovaries ORPHA:137675
Oculodentodigital Dysplasia
Hypoglycemia ORPHA:2710
Acute Liver Failure
Hepatocellular necrosis, Hypoglycemia, Thrombocytopenia, Jaundice, Hepatitis, Adrenal insufficien... ORPHA:90062
Cholera
Hypoglycemia ORPHA:173
Lipodystrophy, Congenital Generalized, Type 4
Recurrent infections, Decreased circulating IgA level OMIM:613327
Progeroid Short Stature With Pigmented Nevi
Impaired T cell function, Delayed puberty, Small for gestational age, Diabetes mellitus, Prematur... OMIM:176690
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Increased circulating IgE level, Decreased circulating antibody level, Decreased lymphocyte proli... ORPHA:508533
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Recurrent respiratory infections, Decreased circulating IgA level OMIM:613385
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgE level, Abnormal serum interleukin level, Decreased specific anti-polysa... ORPHA:3261
Autoimmune Hepatitis
Increased circulating antibody level, Increased circulating IgG level ORPHA:2137
Meckel Syndrome, Type 1
Cryptorchidism, Accessory spleen, Adrenal hypoplasia, Malformation of the hepatic ductal plate, A... OMIM:249000
Bannayan-Riley-Ruvalcaba syndrome
Supernumerary nipple, Hashimoto thyroiditis, Hypoglycemia OMIM:153480
Meckel Syndrome
Cryptorchidism, Accessory spleen, Pancreatic cysts, Pancreatic fibrosis, Cystic liver disease, As... ORPHA:564
Nijmegen Breakage Syndrome
T lymphocytopenia, Autoimmune hemolytic anemia, Thrombocytopenia, Dysgammaglobulinemia, B lymphoc... OMIM:251260
Menkes Disease
Prolonged neonatal jaundice, Hypoglycemia ORPHA:565
Hereditary Fructose Intolerance
Hepatomegaly, Jaundice, Reactive hypoglycemia ORPHA:469
Igg4-Related Submandibular Gland Disease
Increased circulating IgE level, Increased circulating antibody level, Increased circulating IgG4... ORPHA:449432
Primary Fanconi Renotubular Syndrome
Weight loss, Hypoglycemia, Glycosuria ORPHA:3337
Glutaryl-Coa Dehydrogenase Deficiency
Fasting hypoglycemia ORPHA:25
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology, Diabetes mellitus, Hypoparathyroidism, Parathyroid hypoplasia ORPHA:2237
African Trypanosomiasis
Abnormality of renin-angiotensin system, Abnormal growth hormone level, Weight loss, Hepatomegaly... ORPHA:3385
22Q11.2 Deletion Syndrome
Cryptorchidism, Hypothyroidism, Cholelithiasis, Thrombocytopenia, Hypoplasia of the thymus, Impai... ORPHA:567
Glycogen Storage Disease Of Heart, Lethal Congenital
Neonatal hypoglycemia OMIM:261740
Dubowitz Syndrome
Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level OMIM:223370
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgG level, Decreased circulating IgA level OMIM:212065
Costello Syndrome
Lymphangiectasis, Failure to thrive, Hypoglycemia OMIM:218040
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Slender build, Large for gestational age, Neonatal hypoglycemia ORPHA:457359
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Decreased circulating IgA level OMIM:208910
Multiple Myeloma
Decreased circulating antibody level, Increased circulating IgG level, Increased circulating IgA ... ORPHA:29073
Tetraamelia Syndrome 1
Asplenia, Adrenal gland agenesis OMIM:273395
Renal Agenesis, Bilateral
Nonketotic hypoglycemia ORPHA:1848
Digeorge Syndrome
Decreased circulating parathyroid hormone level, Hypothyroidism, Cholelithiasis, Impaired T cell ... OMIM:188400
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Decreased circulating total IgM, Decreased circulating IgA level ORPHA:369837
Beckwith-Wiedemann Syndrome
Cryptorchidism, Neonatal hypoglycemia, Hepatomegaly, Pancreatic hyperplasia, Adrenocortical carci... OMIM:130650
Celiac Disease, Susceptibility To, 1
Decreased circulating IgA level OMIM:212750
Pseudoaminopterin Syndrome
Cryptorchidism, Asplenia ORPHA:221120
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Neutropenia in presence of... ORPHA:391487
Igg4-Related Kidney Disease
Increased circulating IgG1 level, Increased circulating IgE level, Decreased serum complement C4,... ORPHA:449395
Proteasome-Associated Autoinflammatory Syndrome 1
Increased serum interferon-gamma level, Recurrent upper respiratory tract infections, Increased c... OMIM:256040
Velocardiofacial Syndrome
Cryptorchidism, Impaired T cell function, Hypoparathyroidism OMIM:192430
Tick-Borne Encephalitis
Increased circulating IgG level, Abnormality of serum cytokine level, Increased circulating IgM l... ORPHA:297
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Increased circulating IgG level, Increased circulating IgM level ORPHA:562639
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Severe B lymphocytopenia, B lymphocytopenia, Decreased circulating total IgM ORPHA:83617
Monosomy 18Q
Decreased circulating IgA level ORPHA:1600
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Neonatal death, Asplenia, Pulmonary lymphangiectasia, Annular pancreas OMIM:265380
Coccidioidomycosis
Increased circulating IgG level, Increased circulating IgM level ORPHA:228123
Sotos Syndrome
Hydrocele testis, Cryptorchidism, Neonatal hypoglycemia, Hypothyroidism, Prolonged neonatal jaund... ORPHA:821
Holoprosencephaly 1
Diabetes insipidus, Adrenal hypoplasia, Hypoglycemia OMIM:236100
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Cryptorchidism, Hydrocele testis, Decreased circulating antibody level, Asplenia, Failure to thrive ORPHA:261537
Mowat-Wilson Syndrome
Cryptorchidism, Hydrocele testis, Decreased circulating antibody level, Decreased body weight, As... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Cryptorchidism, Hydrocele testis, Decreased circulating antibody level, Asplenia, Failure to thrive ORPHA:261552
Brucellosis
Increased circulating IgG level, Increased circulating IgM level ORPHA:1304
Herpes Simplex Virus Encephalitis
Neutrophilia, Leukocytosis ORPHA:1930
Tubulointerstitial Nephritis And Uveitis Syndrome
Increased circulating antibody level, Increased circulating IgG level ORPHA:91500

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 Traf3

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 Traf3.

There are 6 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
TRAF3IP3 negatively regulates cytosolic RNA induced anti-viral signaling by promoting TBK1 K48 ubiquitination. Nature communications (May 2020) Traf3ip3tm1c(KOMP)Wtsi PMC7198545
TRAF3IP3 mediates the recruitment of TRAF3 to MAVS for antiviral innate immunity. The EMBO journal (August 2019) Traf3ip3tm1c(KOMP)Wtsi 31390091
Metabolic control of regulatory T cell stability and function by TRAF3IP3 at the lysosome. The Journal of experimental medicine (August 2018) Traf3ip3tm1c(KOMP)Wtsi 30115741
T cell development involves TRAF3IP3-mediated ERK signaling in the Golgi. The Journal of experimental medicine (July 2015) Traf3ip3tm1c(KOMP)Wtsi Traf3ip3tm1a(KOMP)Wtsi Traf3ip3tm1b(KOMP)Wtsi PMC4516800
TRAF3IP3, a novel autophagy up-regulated gene, is involved in marginal zone B lymphocyte development and survival. Clinical and experimental immunology (July 2015) Traf3ip3tm1a(KOMP)Wtsi Traf3ip3tm1b(KOMP)Wtsi 26011558
Novel skin phenotypes revealed by a genome-wide mouse reverse genetic screen. Nature communications (April 2014) Traf3ip3tm1a(KOMP)Wtsi PMC3996542

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MGI Allele Allele Type Produced
Traf3tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Traf3tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells