banner
Genes Phenotypes Help, News, Blog

Gene: Traf3 MGI:108041

Log in to follow
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:
CD40bp,  LAP1,  CAP-1,  CRAF1

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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
Leukocytosis, Neutrophilia ORPHA:1930
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 5
OMIM:614849

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
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ... OMIM:605258
Immunodeficiency 24
Lymphopenia, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level, Reduced proportion of muc... OMIM:615897
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent candida infections OMIM:242870
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Recurrent infections, Decreased circulating antibody level OMIM:616911
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia OMIM:615615
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... OMIM:613495
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Increased circulating IgM level, Recurrent bacterial infe... OMIM:608106
Immunodeficiency 35
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... OMIM:611521
Immunodeficiency, Common Variable, 3
Recurrent respiratory infections, Decreased circulating total IgM, Recurrent bacterial infections... OMIM:613493
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Abnormality of T cell physiology, Recurrent protozoan infections,... OMIM:308220
Immunoglobulin A Deficiency 1
Recurrent respiratory infections, Recurrent infections, Recurrent infection of the gastrointestin... OMIM:137100
Immunodeficiency, Common Variable, 7
Recurrent respiratory infections, Recurrent urinary tract infections, Chronic (near) absent circu... OMIM:614699
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased specific antibody response to polysaccharide vaccine, ... OMIM:616452
Short Stature Due To Ghsr Deficiency
Decreased serum insulin-like growth factor 1, Hypoglycemia, Abnormality of body weight, Decreased... ORPHA:314811
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy OMIM:183350
Immunoglobulin A Deficiency 2
Recurrent sinopulmonary infections, Recurrent infection of the gastrointestinal tract, Decreased ... OMIM:609529
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Reticular Dysgenesis
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... OMIM:267500
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Agammaglobulinemia, Decreased circulating ... OMIM:613500
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Recurrent infections OMIM:235900
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent bacterial inf... OMIM:613502
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Immunodeficiency 61
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... OMIM:300310
Glycogen Storage Disease Vi
Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, H... OMIM:232700
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Agammaglobulinemia 10, Autosomal Dominant
Recurrent respiratory infections, Agammaglobulinemia, Decreased circulating total IgM, Recurrent ... OMIM:619707
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Recurrent infections OMIM:606445
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Decreased lymph... OMIM:619313
Caspase 8 Deficiency
Failure to thrive, Complete or near-complete absence of specific antibody response to unconjugate... OMIM:607271
Immunoglobulin Kappa Light Chain Deficiency
Recurrent respiratory infections, Recurrent infections, Abnormal immunoglobulin level OMIM:614102
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Immunodeficiency 95
Recurrent respiratory infections, Decreased circulating IgG3 level, Increased circulating IgG3 le... OMIM:619773
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Immunodeficiency 19
T lymphocytopenia, Failure to thrive, Abnormal B cell morphology, Abnormal natural killer cell mo... OMIM:615617
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, Recurrent otitis media, Recurrent infections OMIM:616941
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent bacterial inf... OMIM:612692
Immunodeficiency 50
Recurrent respiratory infections, Recurrent urinary tract infections, Decreased circulating antib... OMIM:300988
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... OMIM:619924
Isolated Growth Hormone Deficiency, Type Ia
Decreased serum insulin-like growth factor 1, Reduced circulating growth hormone concentration, H... OMIM:262400
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Obesity, Abnormal circulating ins... ORPHA:171706
Immunodeficiency 62
Severe recurrent varicella, Recurrent upper respiratory tract infections, Decreased circulating t... OMIM:618459
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, T lymphocyt... OMIM:615513
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Short Stature Due To Partial Ghr Deficiency
Decreased serum insulin-like growth factor 1, Hypoglycemia, Delayed puberty ORPHA:314802
Immunodeficiency, Common Variable, 14
Decreased circulating total IgM, Recurrent sinusitis, Decreased specific antibody response to vac... OMIM:617765
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ... ORPHA:293964
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Failure to thrive in infancy, Small for gestational age, Decreased proportion of CD8-positive T c... OMIM:617241
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Failure to thrive, Hypoglycemia, Anemia OMIM:610090
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Recurrent bronchopulmonary infections OMIM:610798
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Failure to thrive, Absence of lymph node germinal center, Increased circulating IgE level, Lack o... ORPHA:277
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... OMIM:300853
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Recurrent upp... OMIM:618944
Immunodeficiency 11A
Agammaglobulinemia, Recurrent respiratory infections, Reduced antigen-specific T cell proliferati... OMIM:615206
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Recurrent respiratory infections, Panhypogammaglobulinemia, Recurrent infections OMIM:615214
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Failure to thrive in infancy, Cervical lymphadenopathy, Decreased circulating total IgM, B lympho... OMIM:618987
Severe Combined Immunodeficiency, X-Linked
Reduced natural killer cell activity, Recurrent pneumonia, Agammaglobulinemia, Decreased circulat... OMIM:300400
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Pancytopenia, Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulating th... OMIM:617872
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Failure to thrive, Hypoglycemia ORPHA:67046
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased... OMIM:615285
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Maturity-onset ... ORPHA:324575
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... ORPHA:79299
Immunodeficiency 33
Decreased circulating total IgM, Recurrent bacterial infections, Increased circulating IgA level OMIM:300636
Pituitary Hormone Deficiency, Combined, 4
Hypothyroidism, Adrenal insufficiency, Impaired growth-hormone response to insulin stimulation te... OMIM:262700
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... OMIM:601859
Immunodeficiency, Common Variable, 1
Hepatomegaly, Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil a... OMIM:607594
Immunodeficiency 15B
Recurrent infections, Agammaglobulinemia, Decreased circulating antibody level, Decreased lymphoc... OMIM:615592
Immunodeficiency 104
Hepatomegaly, Splenomegaly, Lymphadenopathy, T lymphocytopenia, Failure to thrive secondary to re... OMIM:608971
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Weight loss, Increased circul... ORPHA:100024
Mirage Syndrome
Hypergonadotropic hypogonadism, Hypoglycemia, Adrenal hypoplasia, Cryptorchidism, Anemia, Leukope... OMIM:617053
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia, Recurrent bacterial infections, Absent isohemagglutinin level, Recurrent otit... OMIM:613501
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level OMIM:616873
3-Methylglutaconic Aciduria Type 4
Failure to thrive, Hypoglycemia, Thrombocytopenia ORPHA:67048
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia OMIM:609016
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... OMIM:614493
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hemophagocytosis, Hepatosplenomegaly OMIM:607624
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Abnor... OMIM:212050
Immunodeficiency 25
Increased circulating IgA level, Increased circulating IgE level, Recurrent pneumonia, Recurrent ... OMIM:610163
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hypercholesterolemia OMIM:306000
Immunodeficiency, Common Variable, 2
Impaired T cell function, Recurrent pneumonia, Recurrent bacterial infections, Recurrent sinusiti... OMIM:240500
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level OMIM:616636
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive... OMIM:619824
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Immunodeficiency 96
Recurrent infections, Decreased circulating total IgM, Defective T cell proliferation, Recurrent ... OMIM:619774
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, De... ORPHA:169154
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Recurrent otitis media, Increased circulating IgG level, Increased circulating IgE level, Recurre... OMIM:618982
Cernunnos-Xlf Deficiency
Thrombocytopenia, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Lym... ORPHA:169079
Immunodeficiency 102
Decreased circulating IgG level, Hepatomegaly, Partial absence of specific antibody response to H... OMIM:301082
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... OMIM:603909
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia... ORPHA:276608
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Auto... ORPHA:331206
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... OMIM:600802
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizur... ORPHA:276580
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, B lymphocytopenia, Failure to thrive secondary to recurrent infections, Failur... OMIM:601457
Glycogen Storage Disease Ixc
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bile duct proliferation, Cirrhosi... OMIM:613027
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatomegaly, Failure to thrive, Hypoglycemia, Hyperlipidemia, Portal fibrosis, Hepatic fibrosis,... ORPHA:369
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T... OMIM:242700
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re... OMIM:615139
Galactokinase Deficiency
Hepatomegaly, Hypergonadotropic hypogonadism, Small for gestational age, Hypoglycemia, Hyperinsul... ORPHA:79237
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato... OMIM:308230
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:859
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Small for gestational age, Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus,... OMIM:262190
Mehmo Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Hypoglycemia, O... OMIM:300148
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Hypoglycemia OMIM:615158
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent otitis media, Increased circulating IgG level, Recurrent lower respiratory tract infect... OMIM:619220
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Par... OMIM:618108
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hepatic steatosis, Hypoglycemia OMIM:261650
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Abnormal immunoglobulin level, Recurrent mycobacterial infections, Increased circulating IgE leve... ORPHA:98813
Glycogen Storage Disease Ixb
Splenomegaly, Increased hepatic glycogen content, Hypoglycemia, Hepatomegaly OMIM:261750
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Increased body weight, Leukopenia, Glucose intolerance, Increased circu... ORPHA:2298
Candidiasis, Familial, 1
Abnormality of the endocrine system, Cutaneous anergy OMIM:114580
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Failure to thrive in infancy, T lymphocytopenia, Decreased circu... OMIM:619510
Mody
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... ORPHA:552
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes... ORPHA:276575
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Large for gestational age, Reactive hypoglycemia, Hypoglycemic seizures, Recurrent ... ORPHA:276556
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t... OMIM:611926
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating corticosterone level, Increased circulating 18-hydroxycortisone level, Incr... OMIM:610600
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Recurrent upper respiratory tract infections, Recurrent candida infections, Decreased circulating... OMIM:614069
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hypoglycemia ORPHA:664
Neonatal Hemochromatosis
Congenital hepatic fibrosis, Hypoglycemia, Prolonged neonatal jaundice ORPHA:446
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased circulating IgG level, Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte ... OMIM:618986
Immunodeficiency 70
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... OMIM:618969
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Neonata... OMIM:262600
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Cryptorchidism, Abnormal ... OMIM:614736
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Small for gestational age, Hypoglycemia, Neonatal hypoglycemia, Decreased body weight ORPHA:231140
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunistic infection... ORPHA:275
Immunodeficiency 14B, Autosomal Recessive
Reduced natural killer cell activity, Recurrent pneumonia, Decreased circulating total IgM, Recur... OMIM:619281
Acute Erythroid Leukemia
Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocellularity, Anemia ORPHA:318
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmune hemolytic anemia, Chronic hepatitis due to cryptosporidium infection, Au... ORPHA:572
Endocardial Fibroelastosis
Cryptorchidism, Anterior hypopituitarism, Hypoglycemia ORPHA:2022
Diarrhea 13
Recurrent hypoglycemia, Failure to thrive, Hepatic steatosis OMIM:620357
Asplenia, Isolated Congenital
Asplenia, Thrombocytosis, Howell-Jolly bodies OMIM:271400
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Hypoglycemia, Anemia OMIM:618838
Stormorken Syndrome
Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia OMIM:185070
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... ORPHA:35078
Orthostatic Hypotension 2
Hypoglycemia, Anemia OMIM:618182
Late-Onset Familial Hypoaldosteronism
Abnormal circulating corticosterone level, Elevated serum 11-deoxycortisol, Increased circulating... ORPHA:556037
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent pneumonia, Recurrent candida infections, Recurrent infections, Increased circulating an... ORPHA:169160
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen, Failure to thrive OMIM:602361
Glucocorticoid Deficiency 1
Decreased circulating cortisol level, Abnormal circulating renin, Increased circulating ACTH leve... OMIM:202200
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Hypoglycemia, Leukopenia, Neutropenia, Failure to thrive, Pancreatitis, Thrombocyto... OMIM:251000
Combined Oxidative Phosphorylation Deficiency 40
Neonatal death, Decreased circulating cortisol level, Hypoglycemia, Anemia OMIM:618835
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Large for gestational age, Neonatal hypoglycem... ORPHA:79644
Immunodeficiency 37
Recurrent infections, Decreased circulating antibody level OMIM:616098
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Decreased circulating cortisol level, Hypoglycemia, Anemia OMIM:618839
Early-Onset Familial Hypoaldosteronism
Abnormal circulating corticosterone level, Elevated serum 11-deoxycortisol, Increased circulating... ORPHA:556030
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Recurrent viral infections, Increased circulating IgE level, ... OMIM:243700
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... OMIM:606367
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ... OMIM:619705
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Small for gestational age, Hypoglycemia ORPHA:231147
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Decreased circ... ORPHA:90793
Immunodeficiency, Common Variable, 10
Frequent Giardia lamblia infestation, Recurrent viral upper respiratory tract infections, Recurre... OMIM:615577
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Failure to thrive, Hepatic steatosis, Hypoglycemia OMIM:619048
Glycogen Storage Disease Iii
Hepatomegaly, Hyperlipidemia, Hepatic fibrosis, Hypoglycemia OMIM:232400
Neuronal Intestinal Pseudoobstruction
Recurrent infections, Decreased circulating antibody level ORPHA:99811
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Splenomegaly, Absent circulating B cells, Decreased circulating IgG level, Complete... OMIM:620282
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Reactive hypoglycemia, Hyperinsulinemic hypoglycemia ORPHA:35878
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial skin infections, Abnormal immunoglobulin level, Severe recurrent varicella, R... ORPHA:276
Propionic Acidemia
Hepatomegaly, Pancytopenia, Hypoglycemia, Anemia, Neutropenia, Failure to thrive, Pancreatitis, T... OMIM:606054
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Splenomegaly, Macrocytic anemia, Failure to thrive, Neonatal hypoglycemia OMIM:619046
Short Chain Acyl-Coa Dehydrogenase Deficiency
Failure to thrive, Hepatic steatosis, Ketotic hypoglycemia ORPHA:26792
3-Methylcrotonyl-Coa Carboxylase Deficiency
Failure to thrive in infancy, Hypoglycemia ORPHA:6
Acth Deficiency, Isolated
Decreased circulating cortisol level, Adrenal hypoplasia, Jaundice, Adrenocorticotropic hormone d... OMIM:201400
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Abnormal erythrocyte enzyme level, Splenomegaly... ORPHA:264580
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Failure to thrive, Impaired T cell function, Pure red cell aplasia, ... OMIM:613179
Pearson Syndrome
Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hyp... ORPHA:699
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased... OMIM:613986
Pyridoxal Phosphate-Responsive Seizures
Pyridoxine-responsive sideroblastic anemia, Failure to thrive, Hypoglycemia ORPHA:79096
Reni Syndrome
Hypertriglyceridemia, Hypoglycemia, Cryptorchidism, Hypogonadism, Adrenal insufficiency, Lymphope... OMIM:617575
2P21 Microdeletion Syndrome
Failure to thrive, Hypogonadism, Hypoglycemia ORPHA:163693
Combined Oxidative Phosphorylation Deficiency 47
Hepatomegaly, Failure to thrive, Hypoglycemia, Cryptorchidism OMIM:618958
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... OMIM:619632
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Temple Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... ORPHA:254516
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyperglycemia, Failure to thrive ORPHA:2089
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Chronic decreased ciru... OMIM:615607
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Elevated hemoglobin A1c, Anterior pituitary hypoplasia, Hypoglycem... OMIM:616113
Post-Traumatic Pituitary Deficiency
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Hypoglycemi... ORPHA:95619
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegal... OMIM:613011
Glucocorticoid Deficiency 2
Decreased circulating cortisol level, Increased circulating ACTH level, Recurrent hypoglycemia OMIM:607398
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Hypoparathyroidism, Macrocytic anemia, Decreased circulating cortisol level, H... ORPHA:199299
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infections ORPHA:2643
Glucocorticoid Resistance, Generalized
Hypoglycemia, Increased circulating ACTH level, Increased circulating cortisol level, Increased s... OMIM:615962
Immunodeficiency 67
Increased circulating IgE level, Recurrent streptococcal infections, Recurrent staphylococcal inf... OMIM:607676
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating cortisol level, Severe B lymphocytopenia, Decreased serum insulin-like grow... ORPHA:293978
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglyc... ORPHA:453533
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Recurrent upper respiratory tract infections, Sepsis, Decreased circulating antibody level, Decre... OMIM:616100
Mitochondrial Pyruvate Carrier Deficiency
Hepatomegaly, Hypoglycemia OMIM:614741
Mitochondrial Complex I Deficiency, Nuclear Type 33
Small for gestational age, Hypoglycemia, Neutropenia OMIM:618253
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Recurrent lower respiratory tract infections, Decreased circulating IgA level, Decreased circulat... OMIM:617744
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Anemia ORPHA:3204
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Decreased circulating total IgM, Decreased circulating IgE, D... OMIM:618394
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Bronchiolitis, Decreased circulating total IgM, Recurrent sinopulmonary infections, Decreased cir... OMIM:614878
Combined Malonic And Methylmalonic Acidemia
Failure to thrive, Hypoglycemia ORPHA:289504
Smith-Kingsmore Syndrome
Hypoglycemia, Large for gestational age, Cryptorchidism, Thrombocytopenia, Decreased circulating ... OMIM:616638
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased circulating IgM level, Increased... OMIM:616005
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... OMIM:600955
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia,... OMIM:619418
Hemochromatosis, Neonatal
Hypoglycemia, Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged neonat... OMIM:231100
Blue Diaper Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Increased body weight, Increased ... ORPHA:94086
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Hypertriglyceridemia, Ketotic hypoglycemia, Splenomegaly, Hepatocellular adenoma, I... ORPHA:79240
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune thrombocytopenia, Primary adrenal i... ORPHA:227990
Laron Syndrome
Hypoglycemia, Abnormality of the endocrine system, Truncal obesity, Delayed puberty, Hypercholest... ORPHA:633
Classic Galactosemia
Hepatomegaly, Decreased serum insulin-like growth factor 1, Hypoglycemia, Abnormal erythrocyte en... ORPHA:79239
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia OMIM:616111
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Large for gestational age, Hyperinsulinemia, Increased body weight, Glycosuria, Pan... ORPHA:263455
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Autoimmune thro... ORPHA:227982
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia, Hepatic steatosis, Pancreatitis, Adrenal insufficiency OMIM:619386
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Failure to thrive, Hypoglycemia, Adrenal hypoplasia, Hypothyroidism,... ORPHA:95496
Dihydrolipoamide Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia OMIM:246900
Immunodeficiency 43
Decreased specific antibody response to polysaccharide vaccine, Lung abscess, Abnormal circulatin... OMIM:241600
Combined Oxidative Phosphorylation Deficiency 36
Failure to thrive, Hypoglycemia OMIM:617950
Propionic Acidemia
Hepatomegaly, Hypoglycemia ORPHA:35
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hypoglycemia ORPHA:364
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Hypoglycemia, Portal hypertension, Splenomegaly, Micronodular cirrhosis, Jaundice, ... OMIM:251880
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne... OMIM:233600
Congenital Isolated Acth Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Hepatitis, Hypoglycemic seizures, Adren... ORPHA:199296
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Cholestatic liver disease, Failure to thrive, Hypoketotic hypoglycemia ORPHA:5
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent otitis media, Increased circulating IgG level, Recurrent urinary tract infections, Recu... OMIM:618495
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Increased circulating IgE level, Recurrent pneumonia, Chronic m... OMIM:618282
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Small for gestational age, Hypoglycemia OMIM:615160
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating total IgM, Recurrent urinary tract infections, Decreased circulating IgG le... OMIM:620210
Immunodeficiency 68
Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Recurrent upper respiratory tract infections, Recurrent pneumoni... OMIM:619752
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypogonadotropic hypogonadism, Hypoglycemia ORPHA:48431
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
Combined Oxidative Phosphorylation Deficiency 10
Failure to thrive, Small for gestational age, Hypoglycemia OMIM:614702
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal death, Failure to thrive, Hypoglycemia OMIM:245400
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Hepatomegaly, Asplenia, Cervical lymphadenopathy, Lymphadenopathy, Coombs-posit... OMIM:614034
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Cholangitis, Biliary tract abnormality, Agammaglobulinemia, Neutropenia, Cutaneo... OMIM:209920
Pyruvate Dehydrogenase E3 Deficiency
Hepatomegaly, Failure to thrive, Hypoglycemia ORPHA:2394
Agammaglobulinemia, X-Linked
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent pneumonia, Se... OMIM:300755
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Decrease... OMIM:601495
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells OMIM:619693
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia OMIM:618948
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent throm... OMIM:150550
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... OMIM:300291
Laterality Defects, Autosomal Dominant
Asplenia OMIM:601086
Immunodeficiency 11B With Atopic Dermatitis
Decreased circulating total IgM, Increased circulating IgE level OMIM:617638
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Hypoglycemia, Pancreatitis OMIM:620137
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or prolonged hepatitis, Th... ORPHA:83471
Donohue Syndrome
Precocious puberty, Hyperinsulinemia, Cholestasis, Ovarian cyst, Hepatic fibrosis, Pancreatic isl... OMIM:246200
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small for gestational age, Hypoglycemia, Insulin resistance, Truncal obesity, Hypogonadism, Failu... ORPHA:73272
Roifman Syndrome
Hypogonadotropic hypogonadism, Eosinophilia, Lymphadenopathy, Decreased circulating antibody leve... ORPHA:353298
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... ORPHA:361
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypoglycemia, Adrenogenital syndrome OMIM:201910
Orotic Aciduria
Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... OMIM:258900
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Splenomegaly, Hyperlipidemia, Delayed puberty, N... OMIM:232220
Schimke Immuno-Osseous Dysplasia
Failure to thrive, Small for gestational age, Abnormality of thyroid physiology, Impaired T cell ... ORPHA:1830
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Diabetes mellitus, Small for gestational age, Hypoglycemia, Decreased body weight, Hypothyroidism... ORPHA:391408
Autoimmune Polyendocrine Syndrome, Type Ii
Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Thymoma, Chronic hepatitis, ... OMIM:269200
Microphthalmia, Syndromic 9
Neonatal death, Cryptorchidism, Hypoplastic spleen, Multilobulated spleen OMIM:601186
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypoglycemia OMIM:618241
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Abnormal lymphocyte count, Portal hyper... ORPHA:79124
Beta-Ketothiolase Deficiency
Hepatomegaly, Hypoglycemia, Leukocytosis, Weight loss, Thrombocytosis, Hyperglycemia ORPHA:134
Immunodeficiency 22
Recurrent upper respiratory tract infections, Decreased circulating total IgM, Decreased circulat... OMIM:615758
Sheehan Syndrome
Decreased circulating cortisol level, Hypoglycemia, Reduced circulating prolactin concentration, ... ORPHA:91355
Pyridoxine-Dependent Epilepsy
Hypoglycemia ORPHA:3006
Pituitary Apoplexy
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:95613
Riboflavin Deficiency
Hypoglycemia OMIM:615026
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Hypoglycemia, Weight loss, Neoplasm of the liver, Recurrent hypog... ORPHA:2126
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Neonatal hypoglycemia, Increased circulating androstenedion... ORPHA:90791
Immunodeficiency 92
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt... OMIM:619652
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Failure to thrive, Hypoglycemia OMIM:614739
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia ORPHA:79159
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Jaundice, Increased circ... ORPHA:90790
Hsd10 Mitochondrial Disease
Hypoglycemia OMIM:300438
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Failure to thrive, Hypothyroidism, Hypoglycemia, Neutropenia OMIM:618005
Hypoglossia With Situs Inversus
Asplenia, Polysplenia OMIM:612776
Addison Disease
Normocytic anemia, Hypoparathyroidism, Decreased circulating cortisol level, Primary testicular f... ORPHA:85138
Fanconi-Bickel Syndrome
Hepatomegaly, Failure to thrive, Diabetes mellitus, Hypertriglyceridemia, Impaired glucose tolera... ORPHA:2088
Multiple Endocrine Neoplasia, Type I
Hypoglycemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, P... OMIM:131100
Proteasome-Associated Autoinflammatory Syndrome 2
Recurrent viral infections, Increased circulating IgA level, Increased circulating IgG level, Rec... OMIM:618048
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hepatic steatosis, Cachexia, Hypoglycemia ORPHA:42
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatomegaly, Hypoglycemia, Transient hyperlipidemia ORPHA:156
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Hypoglycemia, Thrombocytopenia OMIM:617710
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Hypoglycemia, Anemia OMIM:246450
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Hypoglycemia, Increased hepatic echogenicity, Fasting hypoglycemia, Impaired glucon... OMIM:261680
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Pancytopenia, Impaired T cell function, Splenomegaly, Decreased specific anti-polys... OMIM:614576
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Congenital Disorder Of Glycosylation, Type Ig
Failure to thrive, Small for gestational age, Hypoglycemia, Cryptorchidism, Decreased circulating... OMIM:607143
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Impaired T cell function, Splenomegaly, Hypogonadism, Decreased serum testosterone ... OMIM:201100
Pancreatic And Cerebellar Agenesis
Diabetes mellitus, Hypoglycemia, Pancreatic hypoplasia, Hyperglycemia, Failure to thrive, Anemia,... OMIM:609069
3-Methylglutaconic Aciduria Type 7
Hepatic steatosis, Bone marrow hypocellularity, Infection associated neutropenia, Neutropenia, Hy... ORPHA:445038
Mitochondrial Complex I Deficiency, Nuclear Type 20
Microvesicular hepatic steatosis, Hypoglycemia, Thrombocytopenia OMIM:611126
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Recurrent upper respiratory tract infections, Sepsis, Recurrent candida infections, Decreased cir... ORPHA:436159
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Enlarged polycyst... ORPHA:90796
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Microvesicular hepatic steatosis, Recurrent hypoglycemia, Impaired gluconeogenesis,... OMIM:212140
Pyruvate Carboxylase Deficiency
Hepatomegaly, Hypoglycemia OMIM:266150
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:610006
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Ataxia-Telangiectasia
Decreased circulating IgG level, Failure to thrive, Diabetes mellitus, Female hypogonadism, Decre... OMIM:208900
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Acute Adrenal Insufficiency
Normocytic anemia, Decreased circulating cortisol level, Hypoglycemia, Adrenal hypoplasia, Primar... ORPHA:95409
Silver-Russell Syndrome 1
Small for gestational age, Decreased response to growth hormone stimulation test, Fasting hypogly... OMIM:180860
Autoinflammatory Disease, Systemic, X-Linked
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:301081
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Hypoglycemia, Chronic neutropenia, Hypothy... ORPHA:79259
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Chronic active hepatitis, Female hypogonadism, Decreased circulating parathyr... OMIM:240300
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... OMIM:610475
Hypotonia-Cystinuria Syndrome
Failure to thrive, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:606407
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Bone marrow hypocellularity, Hemoph... OMIM:301078
Shigellosis
Failure to thrive in infancy, Abscess, Hypoglycemia, Leukocytosis, Peritonitis, Cholestasis, Micr... ORPHA:810
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Small for gestational age, Cryptorchidism, Recurrent hypoglycemia, Delayed puberty, Hypothyroidism OMIM:616817
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Increased circulating IgE level, B lymphocytopenia ORPHA:217390
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... ORPHA:95699
Hypoadrenocorticism, Familial
Adrenal insufficiency, Adrenal hypoplasia, Hypoglycemia OMIM:240200
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Fasting hyperinsulinemia, Hepatic necrosis, Hypoglyc... ORPHA:71212
3-Hydroxy-3-Methylglutaric Aciduria
Nonketotic hypoglycemia, Hepatomegaly, Acute pancreatitis, Leukocytosis, Jaundice, Lipid accumula... ORPHA:20
Alg12-Cdg
Decreased serum insulin-like growth factor 1, Partial absence of specific antibody response to Ha... ORPHA:79324
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hepatomegaly, Diabetes mellitus, Hypoglycemia, Large for gestational age, Glycosuria OMIM:616026
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... ORPHA:189427
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Stillbirth, Hepati... OMIM:615415
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Hypoglycemia OMIM:618120
Cholestasis, Progressive Familial Intrahepatic, 5
Jaundice, Failure to thrive, Hypoglycemia, Cirrhosis OMIM:617049
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Absent specific antibody response, Lymphopenia, Severe B lymphocytopenia, Aplasia of the thymus, ... OMIM:102700
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,... OMIM:603554
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Failure to thrive, Hypoglycemia OMIM:210200
Silver-Russell Syndrome Due To A Point Mutation
Small for gestational age, Cryptorchidism, Hypothyroidism, Hypoglycemia ORPHA:397590
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Selective Igm Deficiency
Chronic oral candidiasis, Recurrent urinary tract infections, Recurrent respiratory infections, R... ORPHA:331235
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... OMIM:610489
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Perianal abscess, Leukocytosis, Increased circulating IgE level, Increased circulating IgG level,... OMIM:618213
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,... OMIM:208540
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Recurrent respiratory infections, Recurrent urinary tract infections, Recurrent upper respiratory... ORPHA:183675
Xq28 (MECP2) duplication
Recurrent respiratory infections, Decreased circulating IgA level DECIPHER:45
Cog8-Cdg
Failure to thrive, Hypoglycemia ORPHA:95428
Malonyl-Coa Decarboxylase Deficiency
Hypoglycemia OMIM:248360
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hyperinsulinemia, Anemia, Hypoglycemia ORPHA:230
Activated Pi3K-Delta Syndrome
Splenomegaly, Increased circulating IgM level, B lymphocytopenia, Decreased circulating antibody ... ORPHA:397596
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Small for gestational age, Hypoglycemia, Neonatal death, Failure to thrive, Neonatal hypoglycemia OMIM:619055
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Failure to thrive, Hypoglycemia OMIM:615453
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Fasting hypoglycemia ORPHA:436174
Acyl-Coa Dehydrogenase 9 Deficiency
Nonketotic hypoglycemia, Failure to thrive, Hepatic steatosis, Thrombocytopenia ORPHA:99901
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... ORPHA:226307
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Hepatic steatosis, Transient hyperlipidemia, Hypoketotic hypoglycemia OMIM:255120
3-Methylglutaconic Aciduria, Type Viib
Thrombocytopenia, Leukopenia, Neutropenia, Hepatic steatosis, Neonatal hypoglycemia OMIM:616271
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Jaundice, Glycosuria, Neonatal death, Hepatic periportal necrosis, He... OMIM:231680
Bachmann-Bupp Syndrome
Cryptorchidism, Hypoglycemia, Large for gestational age OMIM:619075
Histidinuria-Renal Tubular Defect Syndrome
Hypoglycemia ORPHA:2158
Glycogen Storage Disease Ic
Hepatomegaly, Hypoglycemia, Cyclic neutropenia, Chronic pancreatitis, Hyperlipidemia, Xanthelasma... OMIM:232240
Silver-Russell Syndrome 2
Neonatal hypoglycemia OMIM:618905
Infantile Liver Failure Syndrome 2
Jaundice, Hypoglycemia OMIM:616483
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Small for gestational age, Hypoglycemia, Intrahepatic cholestasis, Jaundice, Hepatic fibrosis, Fa... OMIM:617093
Congenital Disorder Of Glycosylation, Type Iie
Hepatomegaly, Hypoglycemia, Splenomegaly, Jaundice, Failure to thrive OMIM:608779
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Eosinophilia, Splenomegaly, Increased circulating IgE level, B lymphocytop... OMIM:602450
Immunodeficiency, Common Variable, 8, With Autoimmunity
Recurrent respiratory infections, Recurrent pneumonia, Sepsis, Recurrent infections, Decreased ci... OMIM:614700
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Hepatic steatosis, Hypoglycemia OMIM:201450
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Cryptorchidism, Decreased circulating IgA level, Neonatal hypoglycemia, Large for gestational age ORPHA:457485
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Macrovesicular hepatic steatosis, Hypoketotic hypoglycemia OMIM:600649
Silver-Russell Syndrome
Failure to thrive in infancy, Cachexia, Precocious puberty, Cryptorchidism, Insulin resistance, O... ORPHA:813
Gaisböck Syndrome
Diabetes mellitus, Hypertriglyceridemia, Overweight, Splenomegaly, Increased mean corpuscular hem... ORPHA:90041
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Hepatic steatosis, Neonatal hypoglycemia, Hypoglycemia OMIM:212138
Glutaric Acidemia I
Hepatomegaly, Failure to thrive, Hypoglycemia OMIM:231670
Glycogen Storage Disease Ia
Hepatomegaly, Hypoglycemia, Hepatocellular carcinoma, Hyperlipidemia, Xanthelasma, Fasting hypogl... OMIM:232200
Immunodeficiency 97 With Autoinflammation
Recurrent sinopulmonary infections, Recurrent urinary tract infections, Decreased circulating ant... OMIM:619802
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Hypoglycemia, Fasting hypoglycemia, Hepatic steatosis, Neonatal hypoglycemia ORPHA:348
Tyrosinemia, Type I
Hepatomegaly, Hypoglycemia, Splenomegaly, Pancreatic islet-cell hyperplasia, Cirrhosis, Hepatocel... OMIM:276700
Glycogen Storage Disease Ixd
Hypoglycemia OMIM:300559
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Hepatic steatosis, Hepatic necrosis, Hypoketotic hypoglycemia OMIM:231530
Vici Syndrome
Decreased circulating IgG level, Failure to thrive, Decreased circulating IgG2 level, Decreased T... OMIM:242840
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Chronic oral candidiasis, Recurrent urinary tract infections, Decreased lymphocyte proliferation ... ORPHA:221139
Hsd10 Disease, Infantile Type
Hypoglycemia ORPHA:391428
Leukodystrophy, Hypomyelinating, 24
B lymphocytopenia OMIM:619851
Maple Syrup Urine Disease
Hypoglycemia, Pancreatitis OMIM:248600
Dilated Cardiomyopathy With Ataxia
Bilateral cryptorchidism, Microvesicular hepatic steatosis, Hypochromic microcytic anemia, Normoc... ORPHA:66634
Timothy Syndrome
Hypothyroidism, Hypoglycemia OMIM:601005
Hereditary Orotic Aciduria
Splenomegaly, Impaired T cell function, Anemia ORPHA:30
D-Glyceric Aciduria
Failure to thrive, Hypoglycemia OMIM:220120
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Decreased serum insulin-like growth factor 1, Hypoglycemia, Intrahepatic cholestasi... OMIM:614921
Houge-Janssens Syndrome 1
Hypoglycemia OMIM:616355
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Precocious puberty, Increase... ORPHA:786
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia OMIM:616095
Intellectual Developmental Disorder, Autosomal Dominant 45
Slender build, Neonatal hypoglycemia OMIM:617600
Mitochondrial Trifunctional Protein Deficiency 1
Failure to thrive, Small for gestational age, Cholestasis, Hypoketotic hypoglycemia OMIM:609015
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Small for gestational age, Increased circulating free fatty acid level, Overweight,... ORPHA:26793
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Hepatomegaly, Hypoglycemia, Hepatocellular carcinoma, Microvesicular hepatic steatosis, Micronodu... OMIM:256810
Leigh Syndrome
Failure to thrive, Hypoglycemia, Anemia, Neutropenia ORPHA:506
Combined Oxidative Phosphorylation Deficiency 37
Failure to thrive, Bile duct proliferation, Macrovesicular hepatic steatosis, Hypoglycemia OMIM:618329
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Elevated circula... ORPHA:289548
Basilicata-Akhtar Syndrome
Precocious puberty, Neonatal hypoglycemia OMIM:301032
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Elevated circulating luteinizing hormone level, Adrenal hyp... ORPHA:168558
Rabson-Mendenhall Syndrome
Increased pineal volume, Enlarged ovaries, Impaired glucose tolerance, Precocious puberty, Insuli... ORPHA:769
Mitochondrial Trifunctional Protein Deficiency 2
Neonatal death, Hypoglycemia OMIM:620300
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... ORPHA:96253
Immunodeficiency 27A
Increased circulating IgG level, Increased circulating IgM level OMIM:209950
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Nonketotic hypoglycemia, Hepatomegaly, Hypoglycemia, Lipid accumulation in hepatocytes, Hepatic c... OMIM:608836
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Hypertriglyceridemia, Small for gestational age, Hypoglycemia, Chronic... OMIM:307030
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Hypoglycemia, Precocious puberty, Obesity, Hepatosplenomegaly, Cholecystitis, Chole... OMIM:301066
Congenital Disorder Of Glycosylation, Type Im
Hypoketotic hypoglycemia, Failure to thrive, Increased circulating free fatty acid level OMIM:610768
Marburg Hemorrhagic Fever
Lymphopenia, Reticulocytosis, Hypoglycemia, Orchitis, Jaundice, Neutrophilia in presence of infec... ORPHA:99826
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Failure to thrive in infancy, Cholestasis, Diffuse hepatic steatosis, Hypoket... ORPHA:746
Dyskeratosis Congenita, Digenic
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent infections, Decreased... OMIM:620040
Deeah Syndrome
Decreased hemoglobin concentration, Hepatomegaly, Decreased response to growth hormone stimulatio... OMIM:619004
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hypoglycemia, Megaloblastic anemia, Jaundice, Neutropenia, Failure to thrive, Thrombocytopenia ORPHA:79282
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hepatic periportal necrosis, Hypoglycemia, Acute pancreatitis ORPHA:26791
Isolated Complex I Deficiency
Hepatomegaly, Failure to thrive, Diabetes mellitus, Hypoglycemia ORPHA:2609
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Hepatomegaly, Hepatocellular necrosis, Periportal fibrosis, Hepatic stea... OMIM:201475
Immunodeficiency 23
Recurrent respiratory infections, Recurrent staphylococcal infections, Increased circulating IgE ... OMIM:615816
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... ORPHA:99889
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Aica-Ribosuria Due To Atic Deficiency
Hypoglycemia OMIM:608688
Rajab Interstitial Lung Disease With Brain Calcifications 1
Pancytopenia, Small for gestational age, Slender build, Portal hypertension, Hypoglycemia, Choles... OMIM:613658
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology OMIM:615966
Pgm3-Cdg
Recurrent respiratory infections, Increased circulating IgA level, Recurrent viral infections, In... ORPHA:443811
Sneddon Syndrome
Decreased circulating total IgM OMIM:182410
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Hypoglycemia OMIM:229700
3-Methylglutaconic Aciduria, Type Viii
Jaundice, Neutropenia, Neonatal death, Failure to thrive, Neonatal hypoglycemia OMIM:617248
Shashi-Pena Syndrome
Hypoglycemia OMIM:617190
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature adrenarche, Hypogonadotropic hypogonadism, Increa... ORPHA:90794
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Holoprosencephaly
Diabetes mellitus, Failure to thrive in infancy, Hypoglycemia, Abnormality of the spleen, Cryptor... ORPHA:2162
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypoglycemia, Cholangitis, Microvesicular hepatic steatosis, Cholestasis, Periportal fibrosis, Re... OMIM:124000
Sotos Syndrome
Cryptorchidism, Increased body weight, Glucose intolerance, Prolonged neonatal jaundice, Neonatal... OMIM:117550
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Failure to thrive, Hypoglycemia OMIM:210210
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity OMIM:620133
Leprechaunism
Hepatomegaly, Enlarged ovaries, Insulin resistance, Hyperinsulinemia, Central hypothyroidism, Hyp... ORPHA:508
Apparent Mineralocorticoid Excess
Failure to thrive, Decreased circulating aldosterone level, Abnormality of circulating cortisol l... ORPHA:320
Primary Ciliary Dyskinesia
Asplenia, Polysplenia ORPHA:244
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Hypoglycemia OMIM:620275
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Compensated hypothyroidism, Hypoglycemia, Hypoglycemic seizures ORPHA:480864
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Hypoglycemia, Supernumerary nipple ORPHA:457279
Fanconi-Bickel Syndrome
Hepatomegaly, Intrahepatic cholestasis, Fasting hypoglycemia, Glycosuria, Postprandial hyperglyce... OMIM:227810
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Obesity, Neonatal hypoglycemia OMIM:608624
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level OMIM:215250
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoglycemia, Microvesicular hepatic steatosis, Jaundice, Cholestasis, Cirrhosis, Failure to thrive OMIM:617156
Mitochondrial Complex I Deficiency, Nuclear Type 1
Splenomegaly, Failure to thrive, Hypoglycemia, Hepatomegaly OMIM:252010
Bannayan-Riley-Ruvalcaba Syndrome
Neoplasm of the adrenal cortex, Hypoglycemia, Cachexia, Thyroid carcinoma, Hashimoto thyroiditis ORPHA:109
Immunodeficiency 47
Decreased circulating total IgG, Decreased circulating antibody level, Recurrent infections, Decr... OMIM:300972
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level ORPHA:206594
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... ORPHA:96182
Wars2-Related Combined Oxidative Phosphorylation Defect
Neonatal hypoglycemia, Thrombocytopenia ORPHA:572798
Sting-Associated Vasculopathy, Infantile-Onset
Increased circulating IgG level, Recurrent infections, Recurrent respiratory infections, Increase... OMIM:615934
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Hypothyroidism, Hypoglycemia, Premature thelarche, Premature pubarche OMIM:616878
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Abnormality of T cell physiology, Medias... OMIM:181000
Transcobalamin Ii Deficiency
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:275350
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:90695
Angiostrongyliasis
Increased circulating specific IgE antibody, Increased circulating IgG level, Increased circulati... ORPHA:74
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Central adrenal insufficiency, Hypoglycemia, Decreased response to growth hormone stimulation test OMIM:616007
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatomegaly, Hepatic steatosis, Hypoketotic hypoglycemia ORPHA:228305
Boutonneuse Fever
Increased circulating IgG level, Increased circulating IgM level ORPHA:83313
Primary Intestinal Lymphangiectasia
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:90362
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia ORPHA:159
Beckwith-Wiedemann Syndrome
Hepatomegaly, Adrenocortical cytomegaly, Hypoglycemia, Large for gestational age, Splenomegaly, H... ORPHA:116
Cardiofacioneurodevelopmental Syndrome
Asplenia, Cryptorchidism, Abdominal situs inversus OMIM:619123
Simpson-Golabi-Behmel Syndrome
Hepatomegaly, Hypoglycemia, Supernumerary nipple, Splenomegaly, Cryptorchidism, Increased circula... ORPHA:373
Right Atrial Isomerism
Asplenia, Abdominal situs ambiguus, Polysplenia OMIM:208530
Ciliary Dyskinesia, Primary, 1
Asplenia OMIM:244400
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Increased circulating IgM level, Decreased circulating IgA level OMIM:242860
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Cryptorchidism, Hypoglycemia OMIM:620224
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... OMIM:616084
Heterotaxy, Visceral, 2, Autosomal
Asplenia, Abdominal situs inversus, Polysplenia OMIM:605376
Immunodeficiency 58
Recurrent cutaneous abscess formation, Decreased circulating antibody level, Decreased specific a... OMIM:618131
Combined Oxidative Phosphorylation Defect Type 39
Cryptorchidism, Neonatal hypoglycemia ORPHA:565624
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Hypoglycemia OMIM:619355
Orthostatic Hypotension 1
Neonatal hypoglycemia, Reduced circulating prolactin concentration OMIM:223360
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Small for gestational age, Hypoglycemia OMIM:614501
Pyruvate Carboxylase Deficiency
Hepatomegaly, Hyperglycemia, Failure to thrive, Hypoglycemia ORPHA:3008
Perlman Syndrome
Cryptorchidism, Pancreatic islet-cell hyperplasia, Hypoglycemia, Large for gestational age OMIM:267000
Sweeney-Cox Syndrome
Asplenia, Bilateral cryptorchidism OMIM:617746
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Hyperlipidemia, Hepatic calcification, Hypoketotic hypoglycemia ORPHA:157
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hepatomegaly, Failure to thrive, Hepatic steatosis, Hypoglycemia ORPHA:17
Osteopetrosis, Autosomal Recessive 7
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent pneumonia, Decreased ... OMIM:612301
Tempi Syndrome
Increased circulating IgG level ORPHA:284227
Autoinflammation With Arthritis And Dyskeratosis
Increased circulating IgG level, Increased circulating IgA level OMIM:617388
Mosaic Trisomy 9
Asplenia, Cryptorchidism, Abnormal liver lobulation ORPHA:99776
Kabuki Syndrome 2
Neonatal hypoglycemia, Decreased body weight OMIM:300867
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow hypocellularity, ... ORPHA:508542
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Hyperlipidemia, Hepatic calcification, Hepatic steatosis, Hypoketotic hypoglycemia ORPHA:228308
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Jaundice, Hypoglycemia OMIM:615751
Oculodentodigital Dysplasia
Hypoglycemia ORPHA:2710
Congenital Alveolar Capillary Dysplasia
Asplenia, Absent gallbladder, Annular pancreas ORPHA:210122
Histiocytoid Cardiomyopathy
Hepatomegaly, Failure to thrive, Hypoglycemia, Polycystic ovaries ORPHA:137675
Fructose Intolerance, Hereditary
Hepatomegaly, Hypoglycemia, Jaundice, Cirrhosis, Glycosuria, Failure to thrive, Hepatic steatosis OMIM:229600
Riddle Syndrome
Recurrent viral infections, Recurrent pneumonia, Decreased circulating total IgM, Recurrent sinus... ORPHA:420741
Bloom Syndrome
Recurrent urinary tract infections, Recurrent tonsillitis, Decreased circulating antibody level, ... ORPHA:125
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating androstenedione... OMIM:201750
Cerebral Visual Impairment
Neonatal hypoglycemia ORPHA:447788
Simple Cryoglobulinemia
Monoclonal elevation of circulating IgA, Monoclonal immunoglobulin M proteinemia, Paraproteinemia... ORPHA:91139
Mogs-Cdg
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:79330
Congenital Disorder Of Glycosylation, Type Iib
Decreased circulating IgA level, Decreased circulating antibody level OMIM:606056
X-Linked Dominant Chondrodysplasia Punctata
Neonatal hypoglycemia ORPHA:35173
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:95494
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Lymphopenia, Severe B lymphocytopenia, Thrombocytopenia, Decreased circulating ... OMIM:620005
Acute Liver Failure
Hypoglycemia, Jaundice, Hepatitis, Hepatic necrosis, Hepatocellular necrosis, Adrenal insufficien... ORPHA:90062
Cholera
Hypoglycemia ORPHA:173
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Recurrent respiratory infections, Decreased circulating IgA level OMIM:613385
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, Recurrent infections, Decreased circulating antibody level, Dec... ORPHA:90363
Lipodystrophy, Congenital Generalized, Type 4
Recurrent pneumonia, Recurrent infections, Decreased circulating IgA level OMIM:613327
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Increased circulating IgE level, Recurrent pneumonia, Decreased circulating antibody level, Decre... ORPHA:508533
Autoimmune Hepatitis
Increased circulating IgG level, Increased circulating antibody level ORPHA:2137
Igg4-Related Submandibular Gland Disease
Increased circulating IgG4 level, Increased circulating IgE level, Increased circulating IgG leve... ORPHA:449432
Neurooculorenal Syndrome
Decreased circulating cortisol level, Ectopic posterior pituitary, Cryptorchidism, Decreased circ... OMIM:620305
Bloom Syndrome
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent upper respiratory tra... OMIM:210900
Feingold Syndrome 1
Asplenia, Annular pancreas, Polysplenia, Accessory spleen OMIM:164280
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgA level, Increased circulating IgE level, Decreased specific anti-polysac... ORPHA:3261
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Asplenia, Biliary atresia, Abdominal situs inversus, Polysplenia, Failure to thrive OMIM:306955
Digeorge Syndrome
Parathyroid agenesis, Impaired T cell function, Decreased circulating parathyroid hormone level, ... OMIM:188400
Meckel Syndrome
Accessory spleen, Pancreatic fibrosis, Asplenia, Congenital hepatic fibrosis, Pancreatic cysts, C... ORPHA:564
Meckel Syndrome, Type 1
Accessory spleen, Malformation of the hepatic ductal plate, Adrenal hypoplasia, Asplenia, Splenom... OMIM:249000
Progeroid Short Stature With Pigmented Nevi
Diabetes mellitus, Small for gestational age, Impaired T cell function, Delayed puberty OMIM:176690
Glutaryl-Coa Dehydrogenase Deficiency
Fasting hypoglycemia ORPHA:25
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Asplenia OMIM:619657
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Hyperthyroidism, Abnormality of the tonsils, Impaired T cell function, Spleno... ORPHA:567
Hereditary Fructose Intolerance
Hepatomegaly, Jaundice, Reactive hypoglycemia ORPHA:469
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Small for gestational age, Hypoglycemia, Microvesicular hepatic steatosis, Hyperglycemia, Increas... OMIM:220111
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Abnormality of T cell physiology, Diabetes mellitus, Parathyroid hypoplasia ORPHA:2237
Menkes Disease
Hypoglycemia, Prolonged neonatal jaundice ORPHA:565
Primary Fanconi Renotubular Syndrome
Glycosuria, Hypoglycemia, Weight loss ORPHA:3337
Costello Syndrome
Failure to thrive, Lymphangiectasis, Hypoglycemia OMIM:218040
Multiple Myeloma
Increased circulating IgG level, Increased circulating IgA level, Decreased circulating antibody ... ORPHA:29073
African Trypanosomiasis
Hepatomegaly, Abnormality of the endocrine system, Splenomegaly, Jaundice, Lymphadenopathy, Hepat... ORPHA:3385
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgG level, Decreased circulating IgA level OMIM:212065
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... OMIM:617062
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Slender build, Neonatal hypoglycemia, Large for gestational age ORPHA:457359
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Asplenia, Annular pancreas, Pulmonary lymphangiectasia, Neonatal death OMIM:265380
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... ORPHA:391487
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Dysgammaglobulinemia, T lymphocytopenia, B lymphocytopenia, Thromboc... OMIM:251260
Dubowitz Syndrome
Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level OMIM:223370
Tetraamelia Syndrome 1
Asplenia, Adrenal gland agenesis OMIM:273395
Pseudoaminopterin Syndrome
Asplenia, Cryptorchidism ORPHA:221120
Celiac Disease, Susceptibility To, 1
Decreased circulating IgA level OMIM:212750
Velocardiofacial Syndrome
Hypoparathyroidism, Cryptorchidism, Impaired T cell function OMIM:192430
Beckwith-Wiedemann Syndrome
Hepatomegaly, Adrenocortical cytomegaly, Adrenocortical carcinoma, Pancreatic hyperplasia, Crypto... OMIM:130650
Immunodeficiency 82 With Systemic Inflammation
Decreased circulating total IgG, Recurrent infections, Decreased circulating total IgM, Recurrent... OMIM:619381
Renal Agenesis, Bilateral
Nonketotic hypoglycemia ORPHA:1848
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Decreased circulating total IgM, Decreased circulating IgA level ORPHA:369837
Monosomy 18Q
Decreased circulating IgA level ORPHA:1600
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 6 concentration, Increased circulating interleukin 8 concentrat... OMIM:256040
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Decreased circulating total IgM, Severe B lymphocytopenia, B lymphocytopenia ORPHA:83617
Tick-Borne Encephalitis
Increased circulating IgG level, Abnormality of serum cytokine level, Increased circulating IgM l... ORPHA:297
Spondyloepimetaphyseal Dysplasia, Krakow Type
Decreased circulating total IgM OMIM:618162
Rift Valley Fever
Increased circulating IgG level, Increased circulating IgM level ORPHA:319251
Glycogen Storage Disease Of Heart, Lethal Congenital
Neonatal hypoglycemia OMIM:261740
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Increased circulating IgG level, Increased circulating IgM level ORPHA:562639
Heterotaxy, Visceral, 5, Autosomal
Asplenia, Abdominal situs ambiguus, Abdominal situs inversus OMIM:270100
Igg4-Related Kidney Disease
Increased circulating IgG4 level, Increased circulating IgE level, Increased circulating IgG leve... ORPHA:449395
Holoprosencephaly 1
Diabetes insipidus, Adrenal hypoplasia, Hypoglycemia OMIM:236100
Coccidioidomycosis
Increased circulating IgG level, Increased circulating IgM level ORPHA:228123
Sotos Syndrome
Cryptorchidism, Acute lymphoblastic leukemia, Hydrocele testis, Prolonged neonatal jaundice, Hypo... ORPHA:821
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Asplenia, Cryptorchidism, Decreased circulating antibody level, Hydrocele testis, Failure to thrive ORPHA:261537
Mowat-Wilson Syndrome
Asplenia, Cryptorchidism, Decreased circulating antibody level, Hydrocele testis, Decreased body ... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Asplenia, Cryptorchidism, Decreased circulating antibody level, Hydrocele testis, Failure to thrive ORPHA:261552
Brucellosis
Increased circulating IgG level, Increased circulating IgM level ORPHA:1304
Crimean-Congo Hemorrhagic Fever
Increased circulating IgG level, Increased circulating IgM level ORPHA:99827
Herpes Simplex Virus Encephalitis
Leukocytosis, Neutrophilia ORPHA:1930
Tubulointerstitial Nephritis And Uveitis Syndrome
Increased circulating IgG level, Increased circulating antibody level ORPHA:91500
Viss Syndrome
Increased circulating IgG level, Increased circulating IgE level, Decreased circulating IgA level OMIM:619472
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 5
OMIM:614849

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 9 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Nephronophthisis-Pathobiology and Molecular Pathogenesis of a Rare Kidney Genetic Disease. Genes (November 2021) Traf3ip1em1(IMPC)Bay PMC8623546
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
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Traf3ip3tm1a(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Traf3ip3tm1a(KOMP)Wtsi PMC6459510
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

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Traf3tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Traf3tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Traf3tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter