Gene: Traf3 MGI:108041

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.

Human diseases associated with Traf3 (1 diseases)
Human diseases predicted to be associated with Traf3 (565 diseases)

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	Matching phenotypes	Source
Immune Deficiency, Familial Variable	Decreased circulating IgA level, Decreased circulating IgG level, Recurrent infections	OMIM:146830
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level, Recurrent respiratory infections	OMIM:137050
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Immunoglobulin Kappa Light Chain Deficiency	Abnormal immunoglobulin level, Recurrent infections	OMIM:614102
Immunodeficiency, Common Variable, 4	Decreased circulating IgG level, Decreased circulating total IgM, Recurrent bacterial infections,...	OMIM:613494
Immunodeficiency 11	Decreased circulating antibody level, Recurrent respiratory infections	OMIM:615206
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Recurren...	OMIM:605258
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Abnormal circulating insulin concentration, Enlarged tonsils, Increased hepatic glycogen content,...	ORPHA:293964
Immunodeficiency 24	Defective T cell proliferation, Decreased circulating IgG level, Lymphopenia, Decreased specific ...	OMIM:615897
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati...	OMIM:606843
Agammaglobulinemia 7, Autosomal Recessive	Agammaglobulinemia, Recurrent infections, Recurrent respiratory infections	OMIM:615214
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Decreased circulating antibody level, Recurrent infections	OMIM:616911
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Recurrent candida infections, Recurrent bacterial infections, Decreased circulating IgG level	OMIM:242870
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia	OMIM:233650
Immunodeficiency, Common Variable, 5	Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in...	OMIM:613495
Immunodeficiency With Hyper-Igm, Type 5	Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Decrease...	OMIM:608106
Immunodeficiency 18	Defective T cell proliferation, Decreased proportion of CD3-positive T cells, Lymphopenia	OMIM:615615
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ...	OMIM:616452
Immunodeficiency 35	Recurrent mycobacterial infections, Recurrent fungal infections, Recurrent viral infections, Incr...	OMIM:611521
Immunodeficiency, Common Variable, 3	Decreased circulating IgA level, Reduced isohemagglutinin level, Recurrent bacterial infections, ...	OMIM:613493
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent protozoan infections, Recurrent bacterial infections, Abnormality of T cell physiology,...	OMIM:308220
Immunoglobulin A Deficiency 1	Decreased circulating IgA level, Recurrent infection of the gastrointestinal tract, Recurrent inf...	OMIM:137100
Immunodeficiency, Common Variable, 7	Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin...	OMIM:614699
Short Stature Due To Ghsr Deficiency	Decreased body weight, Hypoglycemia, Delayed puberty, Decreased serum insulin-like growth factor ...	ORPHA:314811
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Splenomegaly, Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Hypersplenism	OMIM:183350
Agammaglobulinemia 2, Autosomal Recessive	Decreased circulating IgA level, Recurrent bacterial infections, Decreased circulating total IgM,...	OMIM:613500
Immunoglobulin A Deficiency 2	Decreased circulating IgA level, Recurrent sinopulmonary infections, Recurrent infection of the g...	OMIM:609529
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Reticular Dysgenesis	Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Impaired T cell function, Leukope...	OMIM:267500
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Hyperinsulinemic Hypoglycemia, Familial, 2	Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyp...	OMIM:601820
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:613502
Glycogen Storage Disease Vi	Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia, Hypertriglyceride...	OMIM:232700
Histiocytosis, Familial Lipochrome	Increased circulating antibody level, Recurrent infections	OMIM:235900
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:619707
Insulin Autoimmune Syndrome	Increased circulating antibody level, Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive...	ORPHA:411593
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, Recurrent infections, Recurrent otitis media	OMIM:616941
Persistent Polyclonal B-Cell Lymphocytosis	Decreased circulating total IgM, Recurrent infections	OMIM:606445
Agammaglobulinemia 3, Autosomal Recessive	Recurrent bacterial infections, Recurrent bronchitis, Recurrent otitis media, Agammaglobulinemia,...	OMIM:613501
Lymphoid System Deterioration, Progressive	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:247630
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Decreased lymphocyte proliferation in response to anti-CD3, Hypoplasia of the thymus, B lymphocyt...	OMIM:619313
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating IgG level, Recurrent bacterial infections,...	OMIM:612692
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Caspase 8 Deficiency	Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly...	OMIM:607271
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Increased circulating antibody level, Failure to thrive, Hepatomegaly, Splenomegaly, Extramedulla...	OMIM:615285
Immunoglobulin M, Level Of	Decreased circulating total IgM	OMIM:308250
Isolated Growth Hormone Deficiency, Type Ia	Hypoglycemia, Reduced circulating growth hormone concentration, Decreased serum insulin-like grow...	OMIM:262400
Immunodeficiency 95	Increased circulating IgG3 level, Recurrent viral upper respiratory tract infections, Decreased c...	OMIM:619773
Hyperinsulinemic Hypoglycemia, Familial, 7	Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,...	OMIM:610021
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Abnormal circulating insulin concentration, Decreased circulating free T3, Increased circulating ...	ORPHA:171706
Hyperimmunoglobulin G1(A1) Syndrome	Increased circulating IgA level, Increased circulating IgG level	OMIM:144120
Immunodeficiency 105	Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat...	OMIM:619924
Immunodeficiency 50	Recurrent urinary tract infections, Decreased circulating antibody level, Recurrent respiratory i...	OMIM:300988
Combined Oxidative Phosphorylation Deficiency 34	Failure to thrive, Hepatomegaly, Hypoglycemia, Primary adrenal insufficiency, Hypogonadism, Pancy...	OMIM:617872
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Neonatal hypoglycemia, Large for gestational age, Truncal obesity	OMIM:240900
Short Stature Due To Partial Ghr Deficiency	Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed puberty	ORPHA:314802
Immunodeficiency 86	Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level	OMIM:619549
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Decreased circulating IgG level, Cervical lymphadenopathy, Abnormally low T cell receptor excisio...	OMIM:618987
Immunodeficiency 14A, Autosomal Dominant	Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor...	OMIM:615513
Immunodeficiency, Common Variable, 14	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:617765
Immunodeficiency 64	Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Increased circulati...	OMIM:618534
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Lack of T cell function, Failure to thrive, Lymphopenia, Absence of lymph node germinal center, T...	ORPHA:277
Hyperinsulinism Due To Insr Deficiency	Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr...	ORPHA:263458
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Hypoglycemia, Failure to thrive, Anemia	OMIM:610090
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Recurrent bronchopulmonary infections	OMIM:610798
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Small for gestational age, Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells...	OMIM:617241
Immune Deficiency Disease	Recurrent bacterial infections, Decreased circulating total IgM, Recurrent viral infections	OMIM:242850
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive	Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Decreased cir...	OMIM:618944
Hyperinsulinism Due To Hnf1A Deficiency	Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Small for gestational age, Maturit...	ORPHA:324575
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Splenomegaly, Mediastinal lymphadenopathy,...	OMIM:300853
Severe Combined Immunodeficiency, X-Linked	Decreased circulating IgA level, Recurrent fungal infections, Decreased circulating IgG level, Ch...	OMIM:300400
Hyperinsulinism Due To Glucokinase Deficiency	Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyper...	ORPHA:79299
Immunodeficiency, Common Variable, 1	Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Hepatomega...	OMIM:607594
Growth Hormone Insensitivity Syndrome	Failure to thrive, Type II diabetes mellitus, Truncal obesity, Hypoglycemia, Hypogonadism, Insuli...	ORPHA:181393
Immunodeficiency 33	Recurrent bacterial infections, Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Autoimmune Lymphoproliferative Syndrome	Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Hepatomega...	OMIM:601859
Pituitary Hormone Deficiency, Combined, 4	Hypoglycemia, Hypothyroidism, Impaired growth-hormone response to insulin stimulation test, Adren...	OMIM:262700
Cernunnos-Xlf Deficiency	Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Anemia, ...	ORPHA:169079
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypoglycemia, Hypertriglyceridemia	ORPHA:366
Mu-Heavy Chain Disease	Increased circulating antibody level, Hepatomegaly, Splenomegaly, Abnormal B cell count, Weight l...	ORPHA:100024
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Decreased circulating antibody level, B lymphocytopenia, Pancytopenia	OMIM:616873
Immunodeficiency 104	Hepatomegaly, Splenomegaly, T lymphocytopenia, Failure to thrive secondary to recurrent infection...	OMIM:608971
Homozygous 11P15-P14 Deletion Syndrome	Hypoglycemia, Failure to thrive, Hyperinsulinemia	OMIM:606528
Hypoglycemia, Leucine-Induced	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
Obesity Due To Congenital Leptin Deficiency	Hyperinsulinemia, Hypoplasia of the ovary, Decreased serum testosterone concentration, Hypergonad...	ORPHA:66628
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
3-Methylglutaconic Aciduria Type 4	Hypoglycemia, Failure to thrive, Thrombocytopenia	ORPHA:67048
3-Methylglutaconic Aciduria Type 1	Hypoglycemia, Failure to thrive, Hepatomegaly	ORPHA:67046
Mirage Syndrome	Adrenal insufficiency, Decreased body weight, Lymphopenia, Cryptorchidism, Hypergonadotropic hypo...	OMIM:617053
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hypoglycemia, Hepatomegaly	OMIM:615158
Wiskott-Aldrich Syndrome 2	Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Thrombocytope...	OMIM:614493
Immunodeficiency 84	Perianal abscess, B lymphocytopenia, Splenomegaly	OMIM:619437
Monocyte Chemotactic Disorder	Cutaneous anergy	OMIM:252250
Griscelli Syndrome, Type 2	Hepatosplenomegaly, Reduced delayed hypersensitivity, Hemophagocytosis	OMIM:607624
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoglycemia, Hepatomegaly	OMIM:609016
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n...	OMIM:212050
Polyendocrine-Polyneuropathy Syndrome	Hypoglycemia, Hypogonadism, Central hypothyroidism	OMIM:616113
Obesity Due To Leptin Receptor Gene Deficiency	Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad...	ORPHA:179494
Immunodeficiency 25	Recurrent candida infections, Increased circulating IgA level, Complete or near-complete absence ...	OMIM:610163
Glycogen Storage Disease Ixa1	Hepatomegaly, Splenomegaly, Hypoglycemia, Hypertriglyceridemia, Hypercholesterolemia	OMIM:306000
Glucocorticoid Deficiency 3	Recurrent hypoglycemia	OMIM:609197
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone	Hypoglycemia	OMIM:223500
Agammaglobulinemia 8B, Autosomal Recessive	Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Decreased pr...	OMIM:619824
Immunodeficiency, Common Variable, 2	Decreased circulating IgA level, Decreased circulating IgG level, Partial absence of specific ant...	OMIM:240500
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Failure to thrive, B lymphocytopenia, T lymphocytopenia, Panhypogammaglobulinemia, Failure to thr...	OMIM:601457
Immunodeficiency 44	Decreased circulating IgA level, Decreased circulating total IgM, Abnormal circulating IgG level	OMIM:616636
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ...	ORPHA:169154
Fructose And Galactose Intolerance	Hypoglycemia	OMIM:229500
Immunodeficiency 76	Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy	OMIM:619164
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,...	ORPHA:276608
Immunodeficiency 15B	Agammaglobulinemia, Decreased circulating antibody level	OMIM:615592
Immunodeficiency 96	Decreased circulating IgA level, Defective T cell proliferation, Decreased circulating IgG level,...	OMIM:619774
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphopenia, Absent specific antibody response, Follicular hyperplasia, Autoimmune thrombocytopen...	OMIM:619846
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Decreased lymphocyte proliferation in response to anti-CD3, Failure to thrive, Lymphopenia, Absen...	OMIM:600802
Immunodeficiency 102	Decreased circulating IgA level, Partial absence of specific antibody response to Haemophilus inf...	OMIM:301082
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Diffuse pancreatic islet hyperplas...	ORPHA:276580
Immunodeficiency 72 With Autoinflammation	Recurrent infections, Increased circulating IgE level, Increased circulating IgG level, Recurrent...	OMIM:618982
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Failure to thrive, Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, H...	ORPHA:369
Glycogen Storage Disease Ixc	Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypoglycemia, Hypertri...	OMIM:613027
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Abnor...	ORPHA:331206
Autoimmune Lymphoproliferative Syndrome, Type Iia	Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Hepatomega...	OMIM:603909
Immunodeficiency 81	Impaired collagen-induced platelet aggregation, Abnormally low T cell receptor excision circle le...	OMIM:619374
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Small for gestational age, Diab...	OMIM:262190
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis	OMIM:261650
Insulin-Resistance Syndrome Type B	Hyperinsulinemia, Glycosuria, Abnormality of circulating leptin level, Polycystic ovaries, Increa...	ORPHA:2298
Transcobalamin Deficiency	Decreased circulating IgA level, Decreased circulating antibody level, Decreased circulating IgG ...	ORPHA:859
Mehmo Syndrome	Decreased response to growth hormone stimulation test, Small for gestational age, Hypoglycemia, M...	OMIM:300148
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Diffuse pancreatic islet hyperplas...	ORPHA:276575
Hyperinsulinism Due To Ucp2 Deficiency	Hyperinsulinemic hypoglycemia, Hepatomegaly, Diffuse pancreatic islet hyperplasia, Hypoketotic hy...	ORPHA:276556
Galactokinase Deficiency	Failure to thrive, Hyperinsulinemia, Hepatomegaly, Small for gestational age, Hypergonadotropic h...	ORPHA:79237
T-Cell Immunodeficiency With Thymic Aplasia	Failure to thrive, Lymphopenia, Aplasia of the thymus, Abnormally low T cell receptor excision ci...	OMIM:242700
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Recurrent lower respiratory tract infections, Decreased circulating total IgM, Recurrent upper re...	OMIM:615139
Immunodeficiency With Hyper-Igm, Type 1	Hepatomegaly, Impaired memory B cell generation, Absence of lymph node germinal center, Decreased...	OMIM:308230
Immunodeficiency 57 With Autoinflammation	Failure to thrive, B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Pe...	OMIM:618108
Candidiasis, Familial, 1	Abnormality of the endocrine system, Cutaneous anergy	OMIM:114580
Mody	Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Hyperinsulinemic hypogly...	ORPHA:552
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat...	OMIM:619510
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Failure to thrive, Microvesicular hepatic steatosis, Cirrhosis, Cholestasis, Hypoglycemia, Jaundice	OMIM:617156
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased specific anti-polysaccharide antibody level, Decreased specific antibody response to pr...	ORPHA:70593
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Decreased helper T cell proportion, T lymphocytopenia	OMIM:601705
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Recurrent lower respiratory tract infections, Increased circulating IgM level, Increased circulat...	OMIM:619220
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Abnormally low T cell receptor excision circle level, T lymphocytopenia	OMIM:618806
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu...	ORPHA:79644
Ornithine Transcarbamylase Deficiency	Hypoglycemia, Splenomegaly	ORPHA:664
Reticular Dysgenesis	Failure to thrive, Leukopenia, Abnormality of neutrophils, Weight loss, Decreased circulating ant...	ORPHA:33355
Neonatal Hemochromatosis	Hypoglycemia, Prolonged neonatal jaundice, Congenital hepatic fibrosis	ORPHA:446
Corticosterone Methyloxidase Type Ii Deficiency	Failure to thrive, Decreased circulating aldosterone level, Increased circulating 18-hydroxycorti...	OMIM:610600
Immunodeficiency 70	Decreased circulating total IgA, Decreased circulating total IgM, Recurrent sinusitis, Decreased ...	OMIM:618969
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Decreased lymphocyte proliferation in response to anti-CD3, Partial absence of specific antibody ...	OMIM:618986
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Decreased cir...	ORPHA:35078
Endocardial Fibroelastosis	Hypoglycemia, Cryptorchidism, Anterior hypopituitarism	ORPHA:2022
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Hypoglycemia, Decreased body weight, Neonatal hypoglycemia, Small for gestational age	ORPHA:231140
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:611926
Immunodeficiency By Defective Expression Of Mhc Class Ii	Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Failure to th...	ORPHA:572
Lissencephaly Syndrome, Norman-Roberts Type	Hypoplastic spleen	ORPHA:89844
Acute Erythroid Leukemia	Leukopenia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocellularity, Anemia	ORPHA:318
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:619281
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Recurrent mycobacterial infections, Recurrent gastroenteritis, Decreased circulating IgA level, R...	ORPHA:275
Combined Oxidative Phosphorylation Deficiency 10	Hypoglycemia, Failure to thrive, Small for gestational age	OMIM:614702
Asplenia, Isolated Congenital	Thrombocytosis, Asplenia, Howell-Jolly bodies	OMIM:271400
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Recurrent candida infections, Decreased lymphocyte proliferation in response to mitogen, Increase...	ORPHA:169160
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Failure to thrive, Decreased circulating androgen concentration, Decreased response to growth hor...	ORPHA:293978
Orthostatic Hypotension 2	Hypoglycemia, Anemia	OMIM:618182
Late-Onset Familial Hypoaldosteronism	Failure to thrive, Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, Incr...	ORPHA:556037
Gracile Bone Dysplasia	Failure to thrive, Hypoplastic spleen, Asplenia	OMIM:602361
Combined Oxidative Phosphorylation Deficiency 41	Hypoglycemia, Anemia, Decreased circulating cortisol level	OMIM:618838
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Failure to thrive, Pancreatitis, Hepatomegaly, Leukopenia, Hypoglycemia, Neutropenia, Thrombocyto...	OMIM:251000
Nephrotic Syndrome, Type 14	Adrenal insufficiency, Lymphopenia, Hypoglycemia, Hypothyroidism, Hypertriglyceridemia, Hypogonad...	OMIM:617575
Glucocorticoid Deficiency 1	Failure to thrive, Decreased circulating cortisol level, Increased circulating ACTH level, Abnorm...	OMIM:202200
Glycerol Kinase Deficiency	Adrenal insufficiency, Small for gestational age, Hypoglycemia, Hypertriglyceridemia, Adrenocorti...	OMIM:307030
Immunodeficiency 37	Decreased circulating antibody level, Recurrent infections	OMIM:616098
Early-Onset Familial Hypoaldosteronism	Failure to thrive, Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, Incr...	ORPHA:556030
Bone Marrow Failure Syndrome 2	Bone marrow hypocellularity, Leukopenia, Anemia, Thrombocytopenia	OMIM:615715
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating IgG level, Decreased circulating total IgM, B lymphocytopenia, Decreased pr...	OMIM:619705
Combined Oxidative Phosphorylation Deficiency 40	Hypoglycemia, Anemia, Neonatal death, Decreased circulating cortisol level	OMIM:618835
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased specific anti-polysaccharide antibody level, Decreased lymphocyte proliferation in resp...	OMIM:606367
Combined Oxidative Phosphorylation Deficiency 42	Hypoglycemia, Anemia, Neonatal death, Decreased circulating cortisol level	OMIM:618839
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive	Recurrent fungal infections, Decreased circulating total IgM, Recurrent bacterial infections, Inc...	OMIM:243700
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11	Hypoglycemia, Small for gestational age	ORPHA:231147
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hypoglycemia, Failure to thrive, Hepatic steatosis, Hepatomegaly	OMIM:619048
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Pituitary Hormone Deficiency, Combined, 2	Adrenal insufficiency, Reduced circulating prolactin concentration, Panhypopituitarism, Hypothyro...	OMIM:262600
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatocellular necrosis, Failure to thrive, Hepatomegaly, Micronodular cirrhosis, Periportal fibr...	OMIM:251880
Immunodeficiency, Common Variable, 10	Onychomycosis, Decreased circulating IgA level, Decreased circulating IgG level, Frequent Giardia...	OMIM:615577
Glycogen Storage Disease Iii	Hypoglycemia, Hepatic fibrosis, Hyperlipidemia, Hepatomegaly	OMIM:232400
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Recur...	ORPHA:276
Insulinoma	Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl...	ORPHA:97279
Short Chain Acyl-Coa Dehydrogenase Deficiency	Ketotic hypoglycemia, Failure to thrive, Hepatic steatosis	ORPHA:26792
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Decreased circulating cortisol level, Ovarian cyst, Abnormal response to ACTH stimulation test, I...	ORPHA:90793
Neuronal Intestinal Pseudoobstruction	Decreased circulating antibody level, Recurrent infections	ORPHA:99811
Carnitine Deficiency, Systemic Primary	Failure to thrive, Hepatomegaly, Hypoglycemia, Decreased carnitine level in liver, Impaired gluco...	OMIM:212140
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Neonatal hypoglycemia, Failure to thrive, Splenomegaly, Macrocytic anemia	OMIM:619046
Combined Oxidative Phosphorylation Deficiency 47	Hypoglycemia, Failure to thrive, Cryptorchidism, Hepatomegaly	OMIM:618958
Immunodeficiency 13	Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Mitochondrial Complex Iii Deficiency, Nuclear Type 9	Hypoglycemia	OMIM:616111
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Increased body weight, Polycystic ovari...	ORPHA:264580
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy...	ORPHA:231154
Hyperinsulinism-Hyperammonemia Syndrome	Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia	ORPHA:35878
Pyridoxal Phosphate-Responsive Seizures	Hypoglycemia, Failure to thrive, Pyridoxine-responsive sideroblastic anemia	ORPHA:79096
Pearson Syndrome	Exocrine pancreatic insufficiency, Hepatomegaly, Steatorrhea, Glycosuria, Hypoplastic spleen, Pan...	ORPHA:699
Acth Deficiency, Isolated	Adrenocorticotropic hormone deficiency, Decreased circulating cortisol level, Cholestasis, Adrena...	OMIM:201400
Purine Nucleoside Phosphorylase Deficiency	Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Neutropenia in pres...	OMIM:613179
Propionic Acidemia	Failure to thrive, Neutropenia, Pancreatitis, Hepatomegaly, Hypoglycemia, Pancytopenia, Anemia, T...	OMIM:606054
3-Methylcrotonyl-Coa Carboxylase Deficiency	Hypoglycemia, Failure to thrive in infancy	ORPHA:6
2P21 Microdeletion Syndrome	Hypoglycemia, Failure to thrive, Hypogonadism	ORPHA:163693
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 27 concentration, Increased circulating IgA level, Reduced circul...	OMIM:619632
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Failure to thrive, Precocious puberty, Congenital hypothyroidism, Hypoglycemia, Cryptorchidism	OMIM:614736
Temple Syndrome	Precocious puberty, Type II diabetes mellitus, Decreased response to growth hormone stimulation t...	ORPHA:254516
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM	OMIM:300861
Shashi-Pena Syndrome	Hypoglycemia	OMIM:617190
Smith-Kingsmore Syndrome	Decreased circulating IgA level, Hypoglycemia, Large for gestational age, Cryptorchidism, Thrombo...	OMIM:616638
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Postprandial hyperglycemia, Failure to thrive, Hyperlipidemia, Ketotic hypoglycemia, Glycosuria	ORPHA:2089
Late-Onset Isolated Acth Deficiency	Hypoparathyroidism, Failure to thrive, Adrenocorticotropic hormone deficiency, Graves disease, Pi...	ORPHA:199299
Immunodeficiency 67	Increased circulating IgE level, Recurrent streptococcal infections, Recurrent staphylococcal inf...	OMIM:607676
Post-Traumatic Pituitary Deficiency	Abnormal prolactin level, Decreased response to growth hormone stimulation test, Hypogonadotropic...	ORPHA:95619
Immunodeficiency 17	Failure to thrive, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Abnormal B ce...	OMIM:615607
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Recurrent lower respiratory tract infections, Decreased circulating IgA level, Decreased circulat...	OMIM:617744
Glucocorticoid Deficiency 2	Decreased circulating cortisol level, Recurrent hypoglycemia, Increased circulating ACTH level	OMIM:607398
Lymphoproliferative Syndrome 1	Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Leukopenia, Autoimmune thrombocytope...	OMIM:613011
Pancreatic And Cerebellar Agenesis	Failure to thrive, Hypoglycemia, Pancreatic hypoplasia, Diabetes mellitus, Anemia, Hyperglycemia	OMIM:609069
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infections	ORPHA:2643
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:616100
Immunodeficiency 36	Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Splenomegaly, B ly...	OMIM:616005
Mitochondrial Pyruvate Carrier Deficiency	Hypoglycemia, Hepatomegaly	OMIM:614741
Stormorken-Sjaastad-Langslet Syndrome	Anemia, Asplenia	ORPHA:3204
Diabetes Mellitus, Permanent Neonatal, 4	Small for gestational age, Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellit...	OMIM:618858
Laron Syndrome	Abnormality of the endocrine system, Truncal obesity, Hypoglycemia, Delayed puberty, Hypercholest...	ORPHA:633
Combined Malonic And Methylmalonic Acidemia	Hypoglycemia, Failure to thrive	ORPHA:289504
Hyperinsulinism Due To Hnf4A Deficiency	Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Increased hepatic glycogen content...	ORPHA:263455
Hemochromatosis, Neonatal	Hepatocellular necrosis, Cirrhosis, Cholestasis, Hypoglycemia, Hepatic fibrosis, Prolonged neonat...	OMIM:231100
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:618394
Dihydrolipoamide Dehydrogenase Deficiency	Hypoglycemia, Hepatomegaly	OMIM:246900
Polyendocrine-Polyneuropathy Syndrome	Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Hypogonad...	ORPHA:453533
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Failure to thrive, Exocrine pancreatic insufficiency, Cholestatic liver disease, Hepatomegaly, Mi...	OMIM:619418
X-Linked Lymphoproliferative Disease	Hemophagocytosis, Cervical lymphadenopathy, Aplastic anemia, B lymphocytopenia, Increased proport...	ORPHA:2442
Blue Diaper Syndrome	Decreased circulating T4 concentration, Increased body weight, Elevated circulating thyroid-stimu...	ORPHA:94086
Congenital Isolated Acth Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Hepatitis, Hypoglycemic seizures, Prolo...	ORPHA:199296
Autoimmune Polyendocrinopathy Type 4	Thymoma, Hypergonadotropic hypogonadism, Leukopenia, Autoimmune thrombocytopenia, Macrocytic anem...	ORPHA:227990
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Failure to thrive, Microvesicular hepatic steatosis, Hepatomegaly, Cirrhosis, Macrovesicular hepa...	OMIM:256810
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Bronchiolitis, Decreased circulating IgA level, Recurrent sinopulmonary infections, Decreased cir...	OMIM:614878
Combined Oxidative Phosphorylation Deficiency 52	Hypoglycemia, Hepatic steatosis, Pancreatitis, Adrenal insufficiency	OMIM:619386
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatomegaly, Splenomegaly, Ketotic hypoglycemia, Cirrhosis, Increased body weight, Hepatocellula...	ORPHA:79240
Autoimmune Polyendocrinopathy Type 3	Thymoma, Graves disease, Hypergonadotropic hypogonadism, Leukopenia, Autoimmune thrombocytopenia,...	ORPHA:227982
Combined Oxidative Phosphorylation Deficiency 36	Hypoglycemia, Failure to thrive	OMIM:617950
Classic Galactosemia	Hepatomegaly, Abnormal erythrocyte enzyme level, Hypoglycemia, Delayed puberty, Cryptorchidism, J...	ORPHA:79239
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Failure to thrive, Microvesicular hepatic steatosis, Hypoglycemia, Increased hepatocellular lipid...	OMIM:220111
Immunodeficiency 59 And Hypoglycemia	Hepatomegaly, Hypoglycemia, Decreased proportion of class-switched memory B cells, Decreased circ...	OMIM:233600
Pituitary Stalk Interruption Syndrome	Failure to thrive, Abnormality of the hypothalamus-pituitary axis, Hypoglycemia, Adrenal hypoplas...	ORPHA:95496
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hypoglycemia, Hyperlipidemia	ORPHA:364
Adrenocortical Carcinoma	Paradoxical increased cortisol secretion on dexamethasone suppression test, Adrenocorticotropic h...	ORPHA:1501
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	Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Polycystic ovaries, Hepatocellular carc...	ORPHA:370
Proprotein Convertase 1/3 Deficiency	Reactive hypoglycemia, Hypogonadotropic hypogonadism, Obesity, Decreased circulating cortisol level	OMIM:600955
Propionic Acidemia	Hypoglycemia, Hepatomegaly	ORPHA:35
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Failure to thrive, Cholestatic liver disease, Hepatomegaly, Hypoketotic hypoglycemia, Hypoglycemia	ORPHA:5
Immunodeficiency 68	Lymphadenitis, Abscess, B lymphocytopenia, T lymphocytopenia, Abnormal natural killer cell count	OMIM:612260
Ectodermal Dysplasia And Immunodeficiency 1	Increased circulating IgA level, Abnormal circulating IgG level, Recurrent bacterial infections, ...	OMIM:300291
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:619752
Bare Lymphocyte Syndrome, Type Ii	Failure to thrive, Viral hepatitis, Biliary tract abnormality, Panhypogammaglobulinemia, Cholangi...	OMIM:209920
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Recurrent urinary tract infections, Increased circulating IgG level, Recurrent respiratory infect...	OMIM:618495
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Hypoglycemia, Small for gestational age	ORPHA:231137
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Hypoglycemia, Hypogonadotropic hypogonadism	ORPHA:48431
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Absent circulating B cells, Thrombocytopenia	OMIM:619693
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Hypoglycemia, Small for gestational age	OMIM:615160
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay	Recurrent hypoglycemia	OMIM:618158
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Failure to thrive, Small for gestational age, Truncal obesity, Hypoglycemia, Hypogonadism, Insuli...	ORPHA:73272
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Hypoglycemia, Failure to thrive, Neonatal death	OMIM:245400
Heme Oxygenase 1 Deficiency	Hepatomegaly, Coombs-positive hemolytic anemia, Cervical lymphadenopathy, Hemolytic anemia, Throm...	OMIM:614034
Agammaglobulinemia 1, Autosomal Recessive	Recurrent bacterial infections, Panhypogammaglobulinemia, Recurrent sinusitis, Decreased circulat...	OMIM:601495
Agammaglobulinemia, X-Linked	Decreased circulating IgA level, Decreased circulating IgG level, Enteroviral dermatomyositis syn...	OMIM:300755
Donohue Syndrome	Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Severe failure to thrive, Ovari...	OMIM:246200
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Asplenia	OMIM:618948
Laterality Defects, Autosomal Dominant	Asplenia	OMIM:601086
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Hypoglycemia, Adrenogenital syndrome, Adrenal hyperplasia	OMIM:201910
Familial Glucocorticoid Deficiency	Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Precocious pub...	ORPHA:361
Pyruvate Dehydrogenase E3 Deficiency	Hypoglycemia, Failure to thrive, Hepatomegaly	ORPHA:2394
Mitochondrial Complex I Deficiency, Nuclear Type 19	Hypoglycemia	OMIM:618241
Omenn Syndrome	Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B lymphocytopenia...	OMIM:603554
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD...	OMIM:150550
Glycogen Storage Disease Ib	Hyperlipidemia, Pancreatitis, Hepatomegaly, Splenomegaly, Pancreatic fibrosis, Hepatocellular car...	OMIM:232220
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Decreased body weight, Small for gestational age, Hypoglycemia, Hypothyroidism, Delayed puberty, ...	ORPHA:391408
Thymic Aplasia	Decreased lymphocyte proliferation in response to mitogen, Decreased proportion of naive T cells,...	ORPHA:83471
Autoimmune Polyendocrine Syndrome, Type Ii	Thymoma, Exocrine pancreatic insufficiency, Type II diabetes mellitus, Hyperthyroidism, Steatorrh...	OMIM:269200
Immunodeficiency 92	Decreased circulating IgA level, Decreased circulating IgG level, Lymphocytosis, Leukocytosis, B ...	OMIM:619652
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hepatomegaly, Inappropriate antidiuretic hormone secretion, Hepatosplenomegaly, Absence of lymph ...	ORPHA:79124
Beta-Ketothiolase Deficiency	Hepatomegaly, Leukocytosis, Hypoglycemia, Thrombocytosis, Weight loss, Hyperglycemia	ORPHA:134
Sheehan Syndrome	Adrenocorticotropic hormone deficiency, Central adrenal insufficiency, Reduced circulating prolac...	ORPHA:91355
Schimke Immuno-Osseous Dysplasia	Failure to thrive, Hyperlipidemia, Pancreatitis, Lymphopenia, Small for gestational age, Abnormal...	ORPHA:1830
Solitary Fibrous Tumor/Hemangiopericytoma	Neoplasm of the liver, Hypoinsulinemia, Abnormality of the peritoneum, Hypoglycemia, Recurrent hy...	ORPHA:2126
Riboflavin Deficiency	Hypoglycemia	OMIM:615026
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyperactive renin-angiotensin system, Failure to thrive, Decreased circulating cortisol level, In...	ORPHA:90790
Fanconi-Bickel Syndrome	Postprandial hyperglycemia, Failure to thrive, Hepatomegaly, Increased hepatic glycogen content, ...	ORPHA:2088
Pituitary Apoplexy	Adrenocorticotropic hormone deficiency, Pituitary adenoma, Elevated circulating growth hormone co...	ORPHA:95613
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Cholestasis, Hepatic fibrosis, Stillbirth, Asplenia	OMIM:615415
Orotic Aciduria	Hypochromia, Failure to thrive, Folate-unresponsive megaloblastic anemia, Anisocytosis, Impaired ...	OMIM:258900
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Hypoglycemia, Failure to thrive, Hypothyroidism, Neutropenia	OMIM:618005
Pyridoxine-Dependent Epilepsy	Hypoglycemia	ORPHA:3006
Addison Disease	Hypoparathyroidism, Thymoma, Decreased circulating aldosterone level, Failure to thrive, Decrease...	ORPHA:85138
Isobutyryl-Coa Dehydrogenase Deficiency	Ketotic hypoglycemia	ORPHA:79159
Multiple Endocrine Neoplasia, Type I	Pituitary adenoma, Elevated circulating growth hormone concentration, Glucagonoma, Parathyroid ad...	OMIM:131100
Proteasome-Associated Autoinflammatory Syndrome 2	Increased circulating IgA level, Abnormal circulating IgM level, Increased circulating IgG level,...	OMIM:618048
Carnitine Palmitoyl Transferase 1A Deficiency	Hypoglycemia, Hepatomegaly, Transient hyperlipidemia	ORPHA:156
Hsd10 Mitochondrial Disease	Hypoglycemia	OMIM:300438
Hypoglossia With Situs Inversus	Polysplenia, Asplenia	OMIM:612776
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Increased serum testosterone level, Decreased circulating aldosterone level, Adrenocorticotropic ...	ORPHA:90791
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Hypoglycemia, Failure to thrive	OMIM:614739
Pyruvate Carboxylase Deficiency	Hypoglycemia, Hepatomegaly	OMIM:266150
Congenital Disorder Of Glycosylation, Type Iil	Decreased specific anti-polysaccharide antibody level, Failure to thrive, Hepatomegaly, Splenomeg...	OMIM:614576
Dicarboxylic Aminoaciduria	Fasting hypoglycemia	OMIM:222730
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hypoglycemia, Anemia, Hepatomegaly	OMIM:246450
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Failure to thrive, Decreased serum testosterone concentration, Decreased circulating androgen con...	ORPHA:90796
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Failure to thrive, Decreased serum testosterone concentration, Hepatomegaly, Splenomegaly, Impair...	OMIM:201100
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating IgG level, Decreased circulating total IgM, Hepatosplenomegaly, B lymphocyt...	OMIM:301081
Epidermodysplasia Verruciformis, Susceptibility To, 5	Lymphopenia, T lymphocytopenia	OMIM:618309
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Hypoglycemia, Impaired gluconeogenesis, Fasting hypoglycemia, Hepatic steatosis, In...	OMIM:261680
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hypoglycemia, Cachexia, Hepatic steatosis, Hepatomegaly	ORPHA:42
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hypoglycemia, Thrombocytopenia, Microvesicular hepatic steatosis	OMIM:611126
3-Methylglutaconic Aciduria Type 7	Neonatal hypoglycemia, Hypothyroidism, Infection associated neutropenia, Neutropenia, Bone marrow...	ORPHA:445038
Acute Adrenal Insufficiency	Failure to thrive, Decreased circulating aldosterone level, Decreased circulating cortisol level,...	ORPHA:95409
Microphthalmia, Syndromic 9	Cryptorchidism, Hypoplastic spleen, Multilobulated spleen	OMIM:601186
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Hypoglycemia	OMIM:610006
Pgm3-Cdg	Cutaneous abscess, Failure to thrive, Abnormal proportion of CD8-positive T cells, Increased circ...	ORPHA:443811
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Failure to thrive, Hyperlipidemia, Hepatomegaly, Pancreatitis, Abnormal myeloid leukocyte morphol...	ORPHA:79259
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Small for gestational age, Hypothyroidism, Delayed puberty, Recurrent hypoglycemia, Cryptorchidism	OMIM:616817
Immunodeficiency 98 With Autoinflammation, X-Linked	Decreased circulating IgG level, Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytope...	OMIM:301078
Epilepsy-Telangiectasia Syndrome	Decreased circulating IgA level, Decreased circulating antibody level	ORPHA:1951
Ataxia-Telangiectasia	Glucose intolerance, Decreased circulating IgA level, Failure to thrive, Decreased circulating Ig...	OMIM:208900
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Cholelithiasis, Hypoparathyroidism, Adrenal insufficiency, Chronic active hepatitis, Decreased ci...	OMIM:240300
Shigellosis	Splenic abscess, Leukocytosis, Peritonitis, Abscess, Cholestasis, Hypoglycemia, Microangiopathic ...	ORPHA:810
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Hypoglycemia, Thrombocytopenia	OMIM:617710
Glucocorticoid Resistance, Generalized	Hypoglycemia	OMIM:615962
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia	Abdominal obesity, Glucose intolerance, Paradoxical increased cortisol secretion on dexamethasone...	ORPHA:189427
Pigmented Nodular Adrenocortical Disease, Primary, 2	Paradoxical increased cortisol secretion on dexamethasone suppression test, Pigmented micronodula...	OMIM:610475
Combined Immunodeficiency Due To Dock8 Deficiency	Increased circulating IgE level, B lymphocytopenia, T lymphocytopenia	ORPHA:217390
Wiskott-Aldrich Syndrome, Autosomal Dominant	Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Lymphopen...	OMIM:600903
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Failure to thrive, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyperinsuline...	ORPHA:71212
Hypotonia-Cystinuria Syndrome	Neonatal hypoglycemia, Hypergonadotropic hypogonadism, Failure to thrive, Decreased response to g...	OMIM:606407
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hepatomegaly, Glycosuria, Hypoglycemia, Large for gestational age, Diabetes mellitus	OMIM:616026
Alg12-Cdg	Failure to thrive, Partial absence of specific antibody response to Haemophilus influenzae type b...	ORPHA:79324
Stormorken Syndrome	Anemia, Thrombocytopenia, Asplenia, Howell-Jolly bodies	OMIM:185070
Mitochondrial Complex I Deficiency, Nuclear Type 33	Hypoglycemia	OMIM:618253
3-Hydroxy-3-Methylglutaric Aciduria	Lipid accumulation in hepatocytes, Hepatomegaly, Leukocytosis, Leukopenia, Acute pancreatitis, No...	ORPHA:20
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormal resp...	ORPHA:95699
Silver-Russell Syndrome 1	Decreased response to growth hormone stimulation test, Small for gestational age, Hepatocellular ...	OMIM:180860
Silver-Russell Syndrome Due To A Point Mutation	Hypoglycemia, Cryptorchidism, Hypothyroidism, Small for gestational age	ORPHA:397590
Timothy Syndrome	Hypoglycemia, Hypothyroidism	OMIM:601005
Carnitine Palmitoyltransferase I Deficiency	Hypoketotic hypoglycemia, Hepatic steatosis, Hepatomegaly, Transient hyperlipidemia	OMIM:255120
Hypoadrenocorticism, Familial	Hypoglycemia, Adrenal hypoplasia, Adrenal insufficiency	OMIM:240200
Leukodystrophy, Hypomyelinating, 24	B lymphocytopenia	OMIM:619851
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Decreased circulating IgA level, Decreased circulating IgG level, Recurrent tonsillitis, Decrease...	ORPHA:183675
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Decreased circulating IgA level, Lymphopenia, Splenomegaly, Absent specific antibody response, Ap...	OMIM:102700
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgA level, Decreased circulating antibody level, Decreased circulating IgG ...	OMIM:617062
Wiskott-Aldrich Syndrome	Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Lymphopen...	OMIM:301000
Pigmented Nodular Adrenocortical Disease, Primary, 1	Paradoxical increased cortisol secretion on dexamethasone suppression test, Increased serum testo...	OMIM:610489
Primary Pigmented Nodular Adrenocortical Disease	Abdominal obesity, Glucose intolerance, Paradoxical increased cortisol secretion on dexamethasone...	ORPHA:189439
Congenital Disorder Of Glycosylation, Type Iie	Failure to thrive, Hepatomegaly, Splenomegaly, Hypoglycemia, Jaundice	OMIM:608779
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Splenomegaly, Cirrhosis, Pancreatic fibrosis, Hyperechogenic pancreas, Malformation...	OMIM:208540
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Hypoglycemia, Acute hepatic steatosis, Failure to thrive	OMIM:210200
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Hypoglycemia	OMIM:618120
Cog8-Cdg	Hypoglycemia, Failure to thrive	ORPHA:95428
Cholestasis, Progressive Familial Intrahepatic, 5	Hypoglycemia, Cirrhosis, Failure to thrive, Jaundice	OMIM:617049
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Fasting hypoglycemia, Decreased response to growth hormone stimulation test	ORPHA:436174
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Glycosuria, Neonatal death, Hypoglycemia, Hepatic periportal necrosis, Hepatic stea...	OMIM:231680
Malonyl-Coa Decarboxylase Deficiency	Hypoglycemia	OMIM:248360
Hepatocellular Carcinoma	Abnormality of the hepatic vasculature, Type II diabetes mellitus, Hepatomegaly, Hemobilia, Polyc...	ORPHA:88673
Dopamine Beta-Hydroxylase Deficiency	Hypoglycemia, Anemia, Hyperinsulinemia, Insulin resistance	ORPHA:230
Acyl-Coa Dehydrogenase 9 Deficiency	Nonketotic hypoglycemia, Failure to thrive, Thrombocytopenia, Hepatic steatosis	ORPHA:99901
Glutaric Acidemia I	Hypoglycemia, Failure to thrive, Hepatomegaly	OMIM:231670
Vici Syndrome	Failure to thrive, Decreased circulating IgG level, Decreased T cell activation, Decreased propor...	OMIM:242840
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Failure to thrive, Defective T cell proliferation, Leukocytosis, Hypochromic anemia, Increased ci...	OMIM:618213
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Failure to thrive, Small for gestational age, Neonatal death, Hypoglycemia, Neonatal hypoglycemia	OMIM:619055
Bachmann-Bupp Syndrome	Hypoglycemia, Cryptorchidism, Large for gestational age	OMIM:619075
Silver-Russell Syndrome 2	Neonatal hypoglycemia	OMIM:618905
Xq28 (MECP2) duplication	Decreased circulating IgA level, Recurrent respiratory infections	DECIPHER:45
3-Methylglutaconic Aciduria, Type Viib	Leukopenia, Neutropenia, Neonatal hypoglycemia, Thrombocytopenia, Hepatic steatosis	OMIM:616271
Infantile Liver Failure Syndrome 2	Hypoglycemia, Jaundice	OMIM:616483
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Decreased re...	ORPHA:226307
Histidinuria-Renal Tubular Defect Syndrome	Hypoglycemia	ORPHA:2158
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Neonatal hypoglycemia, Decreased circulating IgA level, Cryptorchidism, Large for gestational age	ORPHA:457485
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Neonatal hypoglycemia, Hypoglycemia, Fasting hypoglycemia, Hepatic steatosis	ORPHA:348
Silver-Russell Syndrome	Precocious puberty, Cachexia, Decreased testicular size, Insulin resistance, Recurrent hypoglycem...	ORPHA:813
Immunodeficiency, Common Variable, 8, With Autoimmunity	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:614700
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hypoketotic hypoglycemia, Hepatomegaly, Macrovesicular hepatic steatosis	OMIM:600649
Carnitine-Acylcarnitine Translocase Deficiency	Hypoglycemia, Hepatic steatosis, Hepatomegaly, Neonatal hypoglycemia	OMIM:212138
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hypoglycemia, Hepatic steatosis, Hepatomegaly	OMIM:201450
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Lymphopenia, Splenomegaly, Aplasia of the thymus, Abnormally low T cell receptor excision circle ...	OMIM:602450
Glycogen Storage Disease Ia	Hyperlipidemia, Pancreatitis, Hepatomegaly, Hepatocellular carcinoma, Hypoglycemia, Delayed puber...	OMIM:232200
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoketotic hypoglycemia, Hepatic necrosis, Hepatic steatosis, Hypoglycemic seizures	OMIM:231530
Selective Igm Deficiency	Onychomycosis, Recurrent infection of the gastrointestinal tract, Chronic oral candidiasis, Recur...	ORPHA:331235
Dilated Cardiomyopathy With Ataxia	Microvesicular hepatic steatosis, Hypochromic microcytic anemia, Hypothyroidism, Neonatal hypogly...	ORPHA:66634
Glycogen Storage Disease Ixd	Hypoglycemia	OMIM:300559
Immunodeficiency 97 With Autoinflammation	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:619802
D-Glyceric Aciduria	Hypoglycemia, Failure to thrive	OMIM:220120
Combined Immunodeficiency With Faciooculoskeletal Anomalies	Decreased lymphocyte proliferation in response to anti-CD3, Decreased lymphocyte proliferation in...	ORPHA:221139
Intellectual Developmental Disorder, Autosomal Dominant 35	Hypoglycemia	OMIM:616355
Generalized Glucocorticoid Resistance Syndrome	Decreased circulating aldosterone level, Precocious puberty, Increased circulating cortisol level...	ORPHA:786
Maple Syrup Urine Disease	Hypoglycemia, Pancreatitis	OMIM:248600
Tyrosinemia, Type I	Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Hypoglycemia,...	OMIM:276700
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Increased hepatic glycogen content, Chronic hepatitis, Hypoglycemia, Hepatitis, Int...	OMIM:614921
Hsd10 Disease, Infantile Type	Hypoglycemia	ORPHA:391428
Leigh Syndrome	Hypoglycemia, Failure to thrive, Anemia, Neutropenia	ORPHA:506
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Failure to thrive, Decreased circulating aldosterone level, Adrenocorticotropic hormone excess, D...	ORPHA:289548
Hereditary Orotic Aciduria	Anemia, Impaired T cell function, Splenomegaly	ORPHA:30
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Failure to thrive, Microvesicular hepatic steatosis, Cholestasis, Hypoglycemia, Cholangitis	OMIM:124000
Rabson-Mendenhall Syndrome	Postprandial hyperglycemia, Increased serum testosterone level, Precocious puberty, Insulin resis...	ORPHA:769
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Small for gestational age, Hypoketotic hypoglycemia, Overweight, Increased circulat...	ORPHA:26793
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Failure to thrive, Decreased circulating aldosterone level, Adrenocorticotropic hormone excess, D...	ORPHA:168558
Mitochondrial Trifunctional Protein Deficiency	Hypoketotic hypoglycemia, Failure to thrive, Cholestasis, Small for gestational age	OMIM:609015
Monocarboxylate Transporter 1 Deficiency	Ketotic hypoglycemia	OMIM:616095
Intellectual Developmental Disorder, Autosomal Dominant 45	Neonatal hypoglycemia, Slender build	OMIM:617600
Combined Oxidative Phosphorylation Deficiency 37	Hypoglycemia, Bile duct proliferation, Failure to thrive, Macrovesicular hepatic steatosis	OMIM:618329
Basilicata-Akhtar Syndrome	Neonatal hypoglycemia, Precocious puberty	OMIM:301032
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Lipid accumulation in hepatocytes, Hepatomegaly, Hepatic calcification, Macrovesicular hepatic st...	OMIM:608836
Transcobalamin Ii Deficiency	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM	OMIM:275350
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Cholelithiasis, Precocious puberty, Hepatomegaly, Hepatosplenomegaly, Cholecystitis, Hypoglycemia...	OMIM:301066
Immunodeficiency 27A	Increased circulating IgM level, Increased circulating IgG level	OMIM:209950
Marburg Hemorrhagic Fever	Increased circulating antibody level, Pancreatitis, Lymphopenia, Orchitis, Leukopenia, Abnormal l...	ORPHA:99826
Dyskeratosis Congenita, Digenic	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:620040
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Megaloblastic anemia, Failure to thrive, Hypoglycemia, Neutropenia, Thrombocytopenia, Jaundice	ORPHA:79282
Congenital Disorder Of Glycosylation, Type Im	Hypoketotic hypoglycemia, Failure to thrive, Increased circulating free fatty acid level	OMIM:610768
Mitochondrial Trifunctional Protein Deficiency	Hypoparathyroidism, Hypoketotic hypoglycemia, Cholestasis, Diffuse hepatic steatosis, Failure to ...	ORPHA:746
Cushing Disease	Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, Ly...	ORPHA:96253
Gaisböck Syndrome	Increased hematocrit, Elevated plasma cell count, Increased mean corpuscular hemoglobin concentra...	ORPHA:90041
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Nonketotic hypoglycemia, Hepatic stea...	OMIM:201475
Multiple Acyl-Coa Dehydrogenase Deficiency	Hypoglycemia, Hepatic periportal necrosis, Hepatomegaly, Acute pancreatitis	ORPHA:26791
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyperactive renin-angiotensin system, Decreased circulating cortisol level, Abnormal response to ...	ORPHA:90794
Isolated Complex I Deficiency	Hypoglycemia, Failure to thrive, Hepatomegaly, Diabetes mellitus	ORPHA:2609
Fructose-1,6-Bisphosphatase Deficiency	Hypoglycemia, Hepatomegaly	OMIM:229700
Deeah Syndrome	Exocrine pancreatic insufficiency, Decreased body weight, Hepatomegaly, Decreased response to gro...	OMIM:619004
Immunodeficiency 23	Increased circulating IgG level, Recurrent staphylococcal infections, Chronic mucocutaneous candi...	OMIM:615816
Sneddon Syndrome	Decreased circulating total IgM	OMIM:182410
Holoprosencephaly	Panhypopituitarism, Abnormality of the spleen, Anterior hypopituitarism, Hypoglycemia, Diabetes m...	ORPHA:2162
Rajab Interstitial Lung Disease With Brain Calcifications 1	Slender build, Failure to thrive, Small for gestational age, Cirrhosis, Cholestasis, Hypoglycemia...	OMIM:613658
Cushing Syndrome Due To Ectopic Acth Secretion	Medullary thyroid carcinoma, Neuroendocrine neoplasm, Neoplasm of the thymus, Small intestine car...	ORPHA:99889
Tenorio Syndrome	Hypoglycemia, Hypoinsulinemia	OMIM:616260
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hypoglycemia	OMIM:615751
Microgastria-Limb Reduction Defects Association	Failure to thrive, Splenogonadal fusion, Biliary tract abnormality, Absent gallbladder, Cryptorch...	OMIM:156810
Sotos Syndrome	Glucose intolerance, Prolonged neonatal jaundice, Neonatal hypoglycemia, Increased body weight, C...	OMIM:117550
Leprechaunism	Postprandial hyperglycemia, Failure to thrive, Hyperinsulinemia, Hepatomegaly, Decreased body wei...	ORPHA:508
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Hypoglycemia, Failure to thrive	OMIM:210210
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Hypoglycemia, Supernumerary nipple	ORPHA:457279
Sweeney-Cox Syndrome	Bilateral cryptorchidism, Asplenia	OMIM:617746
Apparent Mineralocorticoid Excess	Decreased circulating renin level, Decreased circulating aldosterone level, Failure to thrive, Ab...	ORPHA:320
Bannayan-Riley-Ruvalcaba Syndrome	Thyroid carcinoma, Cachexia, Neoplasm of the adrenal cortex, Hypoglycemia, Hashimoto thyroiditis	ORPHA:109
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Decreased circulating IgA level	OMIM:215250
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Neonatal hypoglycemia, Obesity	OMIM:608624
Non-Acquired Panhypopituitarism	Ectopic anterior pituitary gland, Abnormal prolactin level, Decreased response to growth hormone ...	ORPHA:90695
Primary Ciliary Dyskinesia	Polysplenia, Asplenia	ORPHA:244
Wars2-Related Combined Oxidative Phosphorylation Defect	Neonatal hypoglycemia, Thrombocytopenia	ORPHA:572798
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Failure to thrive, Precocious puberty, Decreased response to growth hormone stimulation test, Ins...	ORPHA:96182
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level	ORPHA:206594
Sting-Associated Vasculopathy, Infantile-Onset	Recurrent infections, Increased circulating IgA level, Increased circulating IgG level, Recurrent...	OMIM:615934
Mitochondrial Complex I Deficiency, Nuclear Type 1	Hypoglycemia, Failure to thrive, Hepatomegaly, Splenomegaly	OMIM:252010
Immunodeficiency 47	Decreased circulating total IgA, Decreased circulating total IgM, Recurrent bacterial infections,...	OMIM:300972
Sarcoidosis, Susceptibility To, 1	Increased circulating antibody level, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Ab...	OMIM:181000
Glycogen Storage Disease Ic	Chronic pancreatitis, Hyperlipidemia, Hepatomegaly, Hepatoblastoma, Hepatocellular carcinoma, Hyp...	OMIM:232240
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Hypoglycemia, Compensated hypothyroidism, Hypoglycemic seizures	ORPHA:480864
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Hypoglycemia, Decreased response to growth hormone stimulation test, Central adrenal insufficiency	OMIM:616007
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Hypoketotic hypoglycemia, Hepatic steatosis, Hepatomegaly	ORPHA:228305
Beckwith-Wiedemann Syndrome	Exocrine pancreatic insufficiency, Abnormal pancreas morphology, Hepatomegaly, Hepatoblastoma, Cr...	ORPHA:116
Simpson-Golabi-Behmel Syndrome	Hepatomegaly, Hepatoblastoma, Cryptorchidism, Splenomegaly, Supernumerary nipple, Hypoglycemia, P...	ORPHA:373
Cardiofacioneurodevelopmental Syndrome	Cryptorchidism, Asplenia, Abdominal situs inversus	OMIM:619123
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Hypoglycemia, Premature thelarche, Premature pubarche, Hypothyroidism	OMIM:616878
Carnitine-Acylcarnitine Translocase Deficiency	Fasting hypoglycemia, Hypoketotic hypoglycemia, Hepatomegaly	ORPHA:159
Angiostrongyliasis	Increased circulating specific IgE antibody, Increased circulating IgA level, Increased circulati...	ORPHA:74
Rasmussen Subacute Encephalitis	Decreased circulating total IgA	ORPHA:1929
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Decreased response to growth hormone stimulation test, Abnormal B cell morpho...	OMIM:618223
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Splenomegaly, Hypochromic microcytic anemia, Schistocytosis, B lymphocytopenia, Decreased circula...	OMIM:616084
Right Atrial Isomerism	Polysplenia, Abdominal situs ambiguus, Asplenia	OMIM:208530
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Decreased circulating IgA level, Increased circulating IgM level	OMIM:242860
Boutonneuse Fever	Increased circulating IgM level, Increased circulating IgG level	ORPHA:83313
Immunodeficiency 58	Failure to thrive, Decreased specific antibody response to vaccination, Decreased T cell activati...	OMIM:618131
Ciliary Dyskinesia, Primary, 1	Asplenia	OMIM:244400
Osteopetrosis, Autosomal Recessive 7	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:612301
Combined Oxidative Phosphorylation Defect Type 39	Neonatal hypoglycemia, Cryptorchidism	ORPHA:565624
Primary Intestinal Lymphangiectasia	Decreased circulating antibody level, Decreased circulating IgA level, Decreased circulating IgG ...	ORPHA:90362
Pyruvate Carboxylase Deficiency	Hypoglycemia, Failure to thrive, Hepatomegaly, Hyperglycemia	ORPHA:3008
Orthostatic Hypotension 1	Neonatal hypoglycemia, Reduced circulating prolactin concentration	OMIM:223360
Feingold Syndrome 1	Annular pancreas, Accessory spleen, Polysplenia, Asplenia	OMIM:164280
Carnitine Palmitoyltransferase Ii Deficiency	Hepatic calcification, Hypoketotic hypoglycemia, Hyperlipidemia, Hepatomegaly	ORPHA:157
Tempi Syndrome	Increased circulating IgG level	ORPHA:284227
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Hypoglycemia	OMIM:619355
Mosaic Trisomy 9	Abnormal liver lobulation, Cryptorchidism, Asplenia	ORPHA:99776
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Lymphopenia, Leukopenia, B lymphocytopenia, Neutropenia, Bone marrow hypocellularity, Anemia, Thr...	ORPHA:508542
Autoinflammation With Arthritis And Dyskeratosis	Increased circulating IgA level, Increased circulating IgG level	OMIM:617388
Visceral Steatosis, Congenital	Hypoglycemia, Jaundice, Hepatic steatosis, Neonatal death	OMIM:228100
Kabuki Syndrome 2	Neonatal hypoglycemia, Decreased body weight	OMIM:300867
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hyperlipidemia, Hepatomegaly, Hepatic calcification, Hypoketotic hypoglycemia, Hepatic steatosis	ORPHA:228308
Fructose Intolerance, Hereditary	Failure to thrive, Hepatomegaly, Cirrhosis, Glycosuria, Hypoglycemia, Hepatic steatosis, Jaundice	OMIM:229600
Cerebral Visual Impairment	Neonatal hypoglycemia	ORPHA:447788
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Hypoglycemia, Failure to thrive, Hepatic steatosis, Hepatomegaly	ORPHA:17
Simple Cryoglobulinemia	Complement deficiency, Monoclonal elevation of circulating IgA, Monoclonal elevation of IgG, Incr...	ORPHA:91139
Histiocytoid Cardiomyopathy	Hypoglycemia, Failure to thrive, Polycystic ovaries, Hepatomegaly	ORPHA:137675
Combined Pituitary Hormone Deficiencies, Genetic Forms	Ectopic anterior pituitary gland, Abnormal prolactin level, Decreased response to growth hormone ...	ORPHA:95494
Oculodentodigital Dysplasia	Hypoglycemia	ORPHA:2710
Congenital Alveolar Capillary Dysplasia	Annular pancreas, Absent gallbladder, Asplenia	ORPHA:210122
X-Linked Dominant Chondrodysplasia Punctata	Neonatal hypoglycemia	ORPHA:35173
Riddle Syndrome	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	ORPHA:420741
Acute Liver Failure	Adrenal insufficiency, Hepatocellular necrosis, Hypoglycemia, Hepatitis, Hepatic periportal necro...	ORPHA:90062
Cholera	Hypoglycemia	ORPHA:173
Mogs-Cdg	Decreased circulating antibody level, Decreased circulating IgA level, Decreased circulating IgG ...	ORPHA:79330
Bloom Syndrome	Recurrent gastroenteritis, Decreased circulating IgA level, Decreased circulating IgG level, Recu...	ORPHA:125
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Decreased circulating IgA level, Recurrent respiratory infections	OMIM:613385
Myotonic Dystrophy 2	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:602668
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Severe B lymphocyt...	OMIM:620005
Secondary Intestinal Lymphangiectasia	Decreased circulating IgA level, Decreased circulating total IgM, Decreased circulating antibody ...	ORPHA:90363
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG level, Decre...	ORPHA:508533
Lipodystrophy, Congenital Generalized, Type 4	Decreased circulating IgA level, Recurrent pneumonia, Recurrent infections	OMIM:613327
Igg4-Related Submandibular Gland Disease	Increased circulating antibody level, Complement deficiency, Increased circulating IgG level, Inc...	ORPHA:449432
Autoimmune Hepatitis	Increased circulating antibody level, Increased circulating IgG level	ORPHA:2137
Autoimmune Lymphoproliferative Syndrome	Decreased specific anti-polysaccharide antibody level, Increased circulating antibody level, Decr...	ORPHA:3261
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