Gene: Pou2f2 MGI:101897

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

POU domain, class 2, transcription factor 2

Synonyms:

Otf2, Oct2d, Oct2a, Otf-2, Oct2c, Oct2b, Oct-2

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 Pou2f2 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 Pou2f2 (0 diseases)
Human diseases predicted to be associated with Pou2f2 (740 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Pou2f2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Lymphoid System Deterioration, Progressive	Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I...	OMIM:247630
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha...	OMIM:616452
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, Decreased circulating total IgM, Decreased ...	OMIM:618987
Immunodeficiency 24	Decreased circulating IgG level, Lymphopenia, Defective T cell proliferation, Decreased specific ...	OMIM:615897
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:619707
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia	OMIM:233650
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Persistent Polyclonal B-Cell Lymphocytosis	Decreased circulating total IgM, Lymphocytosis, Splenomegaly	OMIM:606445
Immunoglobulin M, Level Of	Decreased circulating total IgM	OMIM:308250
Lymphoma, Hodgkin, Classic	Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM	OMIM:236000
Immunodeficiency, Common Variable, 3	Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,...	OMIM:613493
Immunodeficiency, Common Variable, 4	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:613494
Immunodeficiency 105	Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Hepatosplenomegaly...	OMIM:619924
Agammaglobulinemia 2, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating total IgM, Absent circulating B cells, Aga...	OMIM:613500
Immunodeficiency, Common Variable, 14	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:617765
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Transcobalamin Deficiency	Decreased circulating IgA level, Neutropenia, Lymphopenia, Decreased circulating IgG level, Decre...	ORPHA:859
Immunoerythromyeloid Hypoplasia	Decreased circulating IgG level, Erythroid hypoplasia	OMIM:242880
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Decreased circulating IgG level, T lymphocytopenia	OMIM:242870
Immunodeficiency 86	Increased circulating IgM level, Decreased circulating IgG level, Impaired oxidative burst	OMIM:619549
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:613502
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Impaired lymphocyte transformation with phytohemagglutinin, Leukemia, Polyclonal elevation of IgM...	OMIM:153600
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Neutropenia	OMIM:610798
Immunodeficiency 44	Decreased circulating total IgM, Decreased circulating IgA level, Lymphopenia, Abnormal circulati...	OMIM:616636
Immunodeficiency 11	Decreased circulating antibody level	OMIM:615206
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati...	OMIM:606843
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:612692
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive	Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Decreased cir...	OMIM:618944
Agammaglobulinemia 7, Autosomal Recessive	Agammaglobulinemia, Neutropenia	OMIM:615214
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, B lymphocytopenia	OMIM:616941
Immunodeficiency 50	Decreased circulating antibody level, Lymphopenia, Neutropenia	OMIM:300988
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Decreased circulating antibody level	OMIM:616911
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD8-pos...	OMIM:619824
Caspase 8 Deficiency	Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95-induced lymphocyte...	OMIM:607271
Immune Deficiency, Familial Variable	Decreased circulating IgA level, Decreased circulating IgG level	OMIM:146830
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia	OMIM:200900
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating IgG level, Neutrophilia, Leukocytosis, Dec...	OMIM:619281
Severe Combined Immunodeficiency, X-Linked	Decreased circulating IgA level, Decreased circulating IgG level, Hypoplasia of the thymus, Decre...	OMIM:300400
Immunodeficiency 70	Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Decreased ci...	OMIM:618969
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Immunodeficiency, Common Variable, 1	Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ...	OMIM:607594
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:611926
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Decreased circulating IgA level, Neutropenia i...	OMIM:301082
Immunodeficiency 14A, Autosomal Dominant	Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor...	OMIM:615513
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating IgG level, Decreased circulating total IgM, B lymphocytopenia, Decreased pr...	OMIM:619705
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level	OMIM:235550
Agammaglobulinemia 5, Autosomal Dominant	Agammaglobulinemia	OMIM:613506
Immunoglobulin A Deficiency 2	Decreased circulating IgA level, Abnormal lymphocyte morphology	OMIM:609529
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Decreased circulating antibody level, B lymphocytopenia, Pancytopenia	OMIM:616873
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat...	OMIM:619510
Immunodeficiency With Hyper-Igm, Type 5	Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig...	OMIM:608106
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphopenia, Absent specific antibody response, Autoimmune thrombocytopenia, Decreased proportion...	OMIM:619846
Immunodeficiency 15B	Agammaglobulinemia, Decreased circulating antibody level	OMIM:615592
Immunoglobulin Kappa Light Chain Deficiency	Abnormal immunoglobulin level	OMIM:614102
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased basophi...	OMIM:618394
Cernunnos-Xlf Deficiency	Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Anemia, ...	ORPHA:169079
Histiocytosis, Familial Lipochrome	Histiocytosis, Increased circulating antibody level	OMIM:235900
Immunodeficiency, Common Variable, 7	Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin...	OMIM:614699
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased specific anti-polysaccharide antibody level, Decreased specific antibody response to pr...	ORPHA:70593
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis	OMIM:247800
Combined Immunodeficiency, X-Linked	Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells...	OMIM:312863
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neonatal death, Neutropenia	OMIM:257100
Immunodeficiency, Common Variable, 5	Chronic decreased circulating total IgG	OMIM:613495
Isovaleric Acidemia	Coma, Dehydration, Leukopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Lethargy	OMIM:243500
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating IgG level, Decreased circulating total IgM, Hepatosplenomegaly, B lymphocyt...	OMIM:301081
Immunodeficiency 95	Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level	OMIM:619773
Lymphoproliferative Syndrome 3	Partial absence of specific antibody response to tetanus vaccine, Hepatosplenomegaly, Decreased c...	OMIM:618261
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Decreased circulating IgA level, Decreased lymphocyte proliferation in res...	ORPHA:331206
Immunodeficiency 96	Increased mean corpuscular volume, Decreased circulating IgA level, Decreased circulating IgG lev...	OMIM:619774
Chronic Hiccup	Dehydration, Abnormal eating behavior	ORPHA:396
Agammaglobulinemia 3, Autosomal Recessive	Agammaglobulinemia, Neutropenia	OMIM:613501
Immunodeficiency 84	Perianal abscess, B lymphocytopenia, Splenomegaly	OMIM:619437
Hyperimmunoglobulin G1(A1) Syndrome	Increased circulating IgA level, Increased circulating IgG level	OMIM:144120
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM	OMIM:300861
Vitamin B12-Responsive Methylmalonic Acidemia	Anemia, Dehydration, Coma, Lethargy	ORPHA:28
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig...	OMIM:605258
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia	ORPHA:2643
Reticular Dysgenesis	Dehydration, Leukopenia, Abnormality of neutrophils, Decreased circulating antibody level, Anemia	ORPHA:33355
Immunodeficiency 25	Increased circulating IgA level, Eosinophilia, Increased circulating IgG level, T lymphocytopenia...	OMIM:610163
Methemoglobinemia, Beta Type	Methemoglobinemia, Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia, Cyanosis	OMIM:617973
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Telangiectases of the cheeks, Decreased circulating total IgM, Livedo	OMIM:615139
Breath-Holding Spells	Cyanosis, Iron deficiency anemia, Loss of consciousness	OMIM:607578
Immunodeficiency 97 With Autoinflammation	Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Lymphopeni...	OMIM:619802
Immunodeficiency 76	Lymphopenia, Splenomegaly, Death in childhood, B lymphocytopenia, T lymphocytopenia	OMIM:619164
Immune Deficiency Disease	Decreased circulating total IgM	OMIM:242850
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant	Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat...	OMIM:619752
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating IgA level, Decreased proportion of class-switched memory B cells, Decreased...	OMIM:614878
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n...	OMIM:212050
Lymphangiectasia, Intestinal	Lymphopenia, Decreased circulating IgG level, Pedal edema, Edema, Stillbirth	OMIM:152800
Sneddon Syndrome	Lymphopenia, Livedo, Cutis marmorata, Decreased circulating total IgM, Livedo reticularis, Livedo...	OMIM:182410
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Increased circulating antibody level, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neu...	OMIM:615285
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Splenomegaly, Decr...	OMIM:616100
Immunodeficiency 64	Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG level, Incre...	OMIM:618534
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen...	OMIM:617514
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia	OMIM:251190
Central Diabetes Insipidus	Excessive daytime somnolence, Dehydration, Lethargy, Polydipsia	ORPHA:178029
Transcobalamin Ii Deficiency	Decreased circulating IgA level, Neutropenia, Decreased circulating IgG level, Decreased circulat...	OMIM:275350
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Dehydration, Death in infancy	OMIM:251850
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Acrocyanosis	ORPHA:86918
Immunodeficiency 37	Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an...	OMIM:616098
Neutropenia, Chronic Familial	Increased circulating antibody level, Neutropenia	OMIM:162700
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb...	OMIM:619220
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Death in childhood, Bradykinesia, Lethargy	OMIM:618683
Immunodeficiency 48	Absence of CD8-positive T cells, Panhypogammaglobulinemia, Splenomegaly	OMIM:269840
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Bullous Dystrophy, Hereditary Macular Type	Death in childhood, Acrocyanosis	OMIM:302000
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp...	OMIM:617006
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Lymphopenia, ...	ORPHA:35078
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen...	OMIM:202700
Immunodeficiency 57 With Autoinflammation	B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Perianal abscess, Par...	OMIM:618108
Immunodeficiency 72 With Autoinflammation	Hepatosplenomegaly, Increased circulating IgG level, Increased B cell count, Increased circulatin...	OMIM:618982
Vitamin B12-Unresponsive Methylmalonic Acidemia	Coma, Dehydration, Leukopenia, Macrocytic anemia, Anemia, Thrombocytopenia, Lethargy	ORPHA:27
Immunodeficiency, Common Variable, 11	Decreased proportion of class-switched memory B cells, Decreased circulating IgG level, Increased...	OMIM:615767
Spastic Ataxia-Corneal Dystrophy Syndrome	Decreased circulating antibody level	ORPHA:2572
Immunodeficiency 15A	Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of CD4-posi...	OMIM:618204
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive	Eosinophilia, Decreased circulating total IgM, Increased circulating IgG level, Decreased proport...	OMIM:243700
Alpha-Methylacetoacetic Aciduria	Dehydration	OMIM:203750
Primary Intestinal Lymphangiectasia	Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat...	ORPHA:90362
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Lack of T cell function, Lymphopenia, B lymphocytopenia, Abnormality of humoral immunity, T lymph...	ORPHA:277
Cyanosis, Transient Neonatal	Methemoglobinemia, Anemia, Cyanosis, Reticulocytosis, Jaundice	OMIM:613977
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Coma, Splenomegaly, Dehydration, Neutropenia, Anemia, Thrombocytopenia, Lethargy	ORPHA:79312
Whim Syndrome 1	Decreased circulating antibody level, Decreased circulating IgG level, Neutropenia	OMIM:193670
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag	Monoclonal immunoglobulin M proteinemia	ORPHA:639
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Panhypogammaglobulinemia, B lymphocytopenia, T lymphocytopenia	OMIM:601457
Autoimmune Lymphoproliferative Syndrome	Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos...	OMIM:601859
Classic Glucose Transporter Type 1 Deficiency Syndrome	Cyanosis, Confusion, Lethargy, Abnormal erythrocyte morphology	ORPHA:71277
Hypothyroidism, Congenital, Nongoitrous, 7	Lethargy	OMIM:618573
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Leukocytosis, Splenomegaly, Death in childhood, Death in adolescence, Decreased circulating antib...	OMIM:618042
Immunodeficiency 36	Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Splenomegaly, B ly...	OMIM:616005
Bone Marrow Failure Syndrome 5	Anemia, Decreased circulating antibody level, Pure red cell aplasia	OMIM:618165
Ataxia-Pancytopenia Syndrome	Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno...	ORPHA:2585
Gaba-Transaminase Deficiency	Death in childhood, Lethargy	OMIM:613163
Diarrhea 4, Malabsorptive, Congenital	Dehydration	OMIM:610370
Glut1 Deficiency Syndrome 1	Confusion, Paroxysmal lethargy, Lethargy	OMIM:606777
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells, Decreased proportion of C...	OMIM:617241
Familial Cold Urticaria	Dehydration, Urticaria, Erythema, Polydipsia	ORPHA:47045
Lactase Deficiency, Congenital	Dehydration	OMIM:223000
Early Myoclonic Encephalopathy	Dysphagia, Lethargy	ORPHA:1935
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, Aplasia of the thymus, Absent specifi...	OMIM:102700
Immunodeficiency 46	Anemia, Decreased circulating antibody level, Intermittent thrombocytopenia, Neutropenia	OMIM:616740
Combined Oxidative Phosphorylation Deficiency 2	Lethargy, Neonatal death, Edema	OMIM:610498
Diabetes Mellitus, Transient Neonatal, 1	Dehydration	OMIM:601410
Thanatophoric Dysplasia, Glasgow Variant	Anemia, Hepatosplenomegaly, Neonatal death	OMIM:273680
Phosphoserine Aminotransferase Deficiency	Death in infancy, Cyanotic episode	OMIM:610992
Immunodeficiency 81	Impaired collagen-induced platelet aggregation, Abnormally low T cell receptor excision circle le...	OMIM:619374
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Absent circulating B cells, Thrombocytopenia	OMIM:619693
Mu-Heavy Chain Disease	Increased circulating antibody level, Anemia, Abnormal B cell count, Splenomegaly	ORPHA:100024
Glycine Encephalopathy	Death in infancy, Lethargy	OMIM:605899
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8	Confusion, Lethargy	OMIM:617900
Inflammatory Skin And Bowel Disease, Neonatal, 2	Dehydration, Edema	OMIM:616069
Immunoglobulin A Deficiency 1	Decreased circulating IgA level	OMIM:137100
Combined Malonic And Methylmalonic Aciduria	Dehydration	OMIM:614265
Immunodeficiency 92	Decreased circulating IgA level, Abnormal B cell proliferation, Decreased circulating IgG level, ...	OMIM:619652
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Lethargy	ORPHA:79283
X-Linked Lymphoproliferative Disease	Hemophagocytosis, Aplastic anemia, B lymphocytopenia, Increased proportion of CD25+ mast cells, P...	ORPHA:2442
Evans Syndrome	Neutropenia in presence of anti-neutropil antibodies, Petechiae, Bruising susceptibility, Autoimm...	ORPHA:1959
Cholesterol Pneumonia	Cyanosis, Death in infancy	OMIM:215030
Lymphoproliferative Syndrome, X-Linked, 1	Neutropenia, Decreased circulating IgG level, Lymphocytosis, Hemophagocytosis, Splenomegaly, Apla...	OMIM:308240
Congenital Disorder Of Glycosylation, Type Iir	Ascites, Decreased circulating antibody level, Jaundice, Decreased proportion of CD4-positive T c...	OMIM:301045
Immunodeficiency 83, Susceptibility To Viral Infections	Confusion, Lethargy	OMIM:613002
Cyanosis And Hepatic Disease	Cyanosis	OMIM:219400
Ras-Associated Autoimmune Leukoproliferative Disorder	Increased circulating antibody level, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thromb...	OMIM:614470
Immunodeficiency 13	Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy...	ORPHA:231154
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Homocystinuria Without Methylmalonic Aciduria	Lethargy	ORPHA:622
Immunodeficiency 61	Agammaglobulinemia	OMIM:300310
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Lethargy	OMIM:613710
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Dehydration, Neonatal death	OMIM:602199
Isobutyryl-Coa Dehydrogenase Deficiency	Dehydration	ORPHA:79159
Immunodeficiency, Common Variable, 8, With Autoimmunity	Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula...	OMIM:614700
Bone Marrow Failure Syndrome 4	Leukopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Anemia, Thrombocyt...	OMIM:618116
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Splenomegaly, Abnormal natural killer cell physiology, Hepatosplenomegaly, Decr...	OMIM:613101
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Splenomegaly, Autoimmune thrombocytopenia,...	OMIM:300853
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt...	OMIM:617780
Proteasome-Associated Autoinflammatory Syndrome 2	Increased circulating IgA level, Abnormal circulating IgM level, Increased circulating IgG level,...	OMIM:618048
Seizures, Benign Familial Infantile, 3	Cyanosis	OMIM:607745
Hereditary Central Diabetes Insipidus	Polydipsia, Lethargy	ORPHA:30925
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Coma, Dehydration, Leukopenia, Neutropenia, Thrombocytopenia, Lethargy	OMIM:251000
Hyperinsulinism Due To Ucp2 Deficiency	Polyphagia, Hypoglycemic coma, Drowsiness, Lethargy, Loss of consciousness	ORPHA:276556
Mitochondrial Complex I Deficiency, Nuclear Type 3	Lethargy	OMIM:618224
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Decreased lymphocyte proliferation in response to anti-CD3, Neutropenia, Lymphopenia, Decreased c...	OMIM:618986
Severe Canavan Disease	Lethargy, Oral-pharyngeal dysphagia	ORPHA:314911
Combined Oxidative Phosphorylation Deficiency 47	Dysphagia, Dehydration	OMIM:618958
Autoimmune Lymphoproliferative Syndrome	Urticaria, Abnormal proportion of CD8-positive T cells, Bone marrow hypocellularity, Reticulocyto...	ORPHA:3261
Immunoneurologic Disorder, X-Linked	Decreased circulating IgG2 level, Neonatal death	OMIM:300076
Agammaglobulinemia, X-Linked	Decreased circulating IgA level, Decreased circulating IgG level, Complete or near-complete absen...	OMIM:300755
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Methylmalonic Acidemia With Homocystinuria	Lethargy	ORPHA:26
Wiskott-Aldrich Syndrome, Autosomal Dominant	Decreased specific anti-polysaccharide antibody level, Lymphopenia, Increased circulating IgA lev...	OMIM:600903
Adult Idiopathic Neutropenia	Lymphopenia, Monocytosis, Increased circulating IgM level, Neutropenia, Monocytopenia	ORPHA:2688
Seizures, Benign Familial Infantile, 1	Cyanosis	OMIM:601764
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Increased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen, ...	ORPHA:169154
Developmental And Epileptic Encephalopathy 92	Lethargy	OMIM:617829
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6	Lymphopenia, Abnormally low T cell receptor excision circle level, Decreased circulating antibody...	OMIM:619767
Obesity-Hypoventilation Syndrome	Excessive daytime somnolence, Cyanosis	OMIM:257500
Rosaï-Dorfman Disease	Anemia, Dysgammaglobulinemia	ORPHA:158014
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Polyphagia, Hypoglycemic coma, Drowsiness, Lethargy, Loss of consciousness	ORPHA:276575
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating antibody level	OMIM:614069
Netherton Syndrome	Urticaria, Decreased circulating IgG level, Hypernatremic dehydration, Angioedema, Hypereosinophi...	OMIM:256500
Acquired Methemoglobinemia	Methemoglobinemia, Coma, Cyanosis, Confusion, Drowsiness, Hypoxemia, Loss of consciousness	ORPHA:464453
Immunodeficiency, Common Variable, 10	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM	OMIM:615577
Methylmalonic Aciduria, Cblb Type	Neutropenia, Coma, Dehydration, Pancytopenia, Anemia, Thrombocytopenia, Lethargy	OMIM:251110
Propionic Acidemia	Neutropenia, Coma, Dehydration, Pancytopenia, Anemia, Thrombocytopenia, Lethargy	OMIM:606054
Autosomal Agammaglobulinemia	Agammaglobulinemia, Dehydration, Neutropenia	ORPHA:33110
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Polyphagia, Hypoglycemic coma, Drowsiness, Lethargy, Loss of consciousness	ORPHA:276580
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgA level...	OMIM:308230
N-Acetylglutamate Synthase Deficiency	Coma, Lethargy, Confusion	OMIM:237310
Autoimmune Lymphoproliferative Syndrome, Type Iia	Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos...	OMIM:603909
Hypercalcemia, Infantile, 1	Dehydration, Lethargy	OMIM:143880
Hyperinsulinism Due To Hnf1A Deficiency	Polyphagia, Hypoglycemic coma, Drowsiness, Lethargy, Loss of consciousness	ORPHA:324575
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Decreased lymphocyte proliferation in response to anti-CD3, Lymphopenia, T lymphocytopenia, Panhy...	OMIM:600802
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Idiopathic Congenital Hypothyroidism	Facial edema, Lethargy, Prolonged neonatal jaundice	ORPHA:95717
Developmental And Epileptic Encephalopathy 40	Lethargy	OMIM:617065
Developmental And Epileptic Encephalopathy 41	Lethargy	OMIM:617105
Netherton Syndrome	Dehydration, Decreased circulating antibody level, Increased circulating IgE level, Urticaria	ORPHA:634
Congenital Pulmonary Lymphangiectasia	Chylopericardium, Splenomegaly, Cyanosis, Hydrops fetalis, Pleural effusion, Ascites	ORPHA:2414
Methylmalonic Aciduria, Cbla Type	Neutropenia, Coma, Dehydration, Pancytopenia, Anemia, Thrombocytopenia, Lethargy	OMIM:251100
Dihydropyrimidine Dehydrogenase Deficiency	Lethargy	OMIM:274270
Lethal Infantile Mitochondrial Myopathy	Lethargy	ORPHA:254857
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Increased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen, ...	ORPHA:169160
Macrocephaly/Autism Syndrome	Decreased circulating antibody level, Lymphopenia, Splenomegaly	OMIM:605309
Hyperlysinuria With Hyperammonemia	Coma, Lethargy	OMIM:238750
Immunodeficiency 17	Death in childhood, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Abnormal B c...	OMIM:615607
Riddle Syndrome	Decreased circulating IgG level	OMIM:611943
Immunodeficiency, Common Variable, 6	Decreased specific pneumococcal antibody level, Complete or near-complete absence of specific ant...	OMIM:613496
Mitochondrial Complex I Deficiency, Nuclear Type 6	Lethargy	OMIM:618228
Beta-Ketothiolase Deficiency	Coma, Oral aversion, Leukocytosis, Dehydration, Thrombocytosis, Reduced consciousness/confusion, ...	ORPHA:134
Neuronal Intestinal Pseudoobstruction	Decreased circulating antibody level	ORPHA:99811
Crigler-Najjar Syndrome	Jaundice, Lethargy	ORPHA:205
Ectodermal Dysplasia And Immunodeficiency 1	Increased circulating IgA level, Abnormal circulating IgG level, Reduced natural killer cell acti...	OMIM:300291
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Drowsiness, Coma, Lethargy	ORPHA:276608
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphedema, Decreased circulating antibody level, Lymphopenia	ORPHA:1116
Immunodeficiency 47	Splenomegaly, Decreased circulating total IgA, Decreased circulating total IgM, Leukopenia, Chron...	OMIM:300972
Combined Immunodeficiency With Faciooculoskeletal Anomalies	Decreased lymphocyte proliferation in response to anti-CD3, Decreased lymphocyte proliferation in...	ORPHA:221139
Combined Immunodeficiency Due To Dock8 Deficiency	Increased circulating IgE level, B lymphocytopenia, T lymphocytopenia	ORPHA:217390
Mogs-Cdg	Decreased circulating IgA level, Pulmonary edema, Decreased circulating IgG level, Decreased circ...	ORPHA:79330
Ebola Hemorrhagic Fever	Increased circulating antibody level, Lymphopenia, Leukopenia, Dysphagia, Thrombocytopenia, Lethargy	ORPHA:319218
Immunodeficiency, Common Variable, 2	Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Partial absence o...	OMIM:240500
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Lethargy	OMIM:201470
Dengue Fever	Petechiae, Bruising susceptibility, Leukopenia, Thrombocytopenia, Ascites, Lethargy	ORPHA:99828
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased circulating antibody level, Absent isohemagglutinin level, Splenomegaly, Increased prop...	OMIM:615559
Immunodeficiency 27A	Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Increased circulating IgG level, T...	OMIM:209950
Transient Neonatal Diabetes Mellitus	Dehydration	ORPHA:99886
Febrile Infection-Related Epilepsy Syndrome	Lethargy	ORPHA:163703
Mitochondrial Complex I Deficiency, Nuclear Type 5	Dysphagia, Lethargy	OMIM:618226
Combined Malonic And Methylmalonic Acidemia	Dehydration	ORPHA:289504
Short Chain Acyl-Coa Dehydrogenase Deficiency	Lethargy	ORPHA:26792
Immunodeficiency 68	Abscess, Abnormal natural killer cell count, B lymphocytopenia, T lymphocytopenia	OMIM:612260
Apnea, Central Sleep	Cyanosis	OMIM:207720
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Death in infancy, Lethargy	OMIM:614299
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased proportion of naive T cells, Decreased circulating IgA level, Decreased lymphocyte prol...	ORPHA:276
Lymphoproliferative Syndrome 1	Decreased circulating IgG level, Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Decreased...	OMIM:613011
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Coma, Neutropenia, Anemia, Thrombocytopenia, Lethargy	ORPHA:289916
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD...	OMIM:150550
Immunodeficiency 98 With Autoinflammation, X-Linked	Decreased circulating IgG level, Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytope...	OMIM:301078
Familial Renal Glucosuria	Dehydration	ORPHA:69076
Wiskott-Aldrich Syndrome	Decreased specific anti-polysaccharide antibody level, Lymphopenia, Increased circulating IgA lev...	OMIM:301000
Secondary Intestinal Lymphangiectasia	Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG1 level, Chylous ascites, ...	ORPHA:90363
Encephalopathy, Recurrent, Of Childhood	Lethargy	OMIM:130950
Dyskeratosis Congenita, Digenic	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:620040
Tempi Syndrome	Increased hematocrit, Polycythemia, Increased circulating IgG level, Facial erythema, Hypoxemia, ...	ORPHA:284227
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 27 concentration, Increased circulating IgA level, Reduced circul...	OMIM:619632
Multiple Mitochondrial Dysfunctions Syndrome 1	Lethargy	OMIM:605711
Laryngeal Abductor Paralysis	Dysphagia, Cyanosis	OMIM:150260
Alpha-Heavy Chain Disease	Anemia, Ascites, Dysgammaglobulinemia, Splenomegaly	ORPHA:100025
Staphylococcal Necrotizing Pneumonia	Neutrophilia, Leukocytosis, Pleural empyema, Leukopenia, Confusion, Pleural effusion, Hypoxemia, ...	ORPHA:36238
Omenn Syndrome	Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B lymphocytopenia...	OMIM:603554
Mitochondrial Complex I Deficiency, Nuclear Type 4	Lethargy	OMIM:618225
Agammaglobulinemia 1, Autosomal Recessive	B lymphocytopenia, Panhypogammaglobulinemia, Decreased circulating antibody level, Rectal abscess...	OMIM:601495
Osteopetrosis, Autosomal Recessive 7	Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Death in childhoo...	OMIM:612301
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Death in childhood, Death in infancy, Lethargy	OMIM:619064
Hernia, Anterior Diaphragmatic	Neonatal death	OMIM:306950
Pyruvate Dehydrogenase E1-Alpha Deficiency	Lethargy	OMIM:312170
Lymphoproliferative Syndrome, X-Linked, 2	Hemophagocytosis, Splenomegaly, Aplastic anemia, Decreased circulating antibody level, Pancytopenia	OMIM:300635
Cryofibrinogenemia, Familial Primary	Acrocyanosis	OMIM:123540
Eosinophilic Fasciitis	Muscular edema, Abnormal eosinophil morphology, Eosinophilia, Edema, Acrocyanosis	ORPHA:3165
Epilepsy-Telangiectasia Syndrome	Decreased circulating IgA level, Decreased circulating antibody level	ORPHA:1951
Dyskeratosis Congenita, Autosomal Recessive 5	Bone marrow hypocellularity, Leukopenia, Decreased circulating antibody level	OMIM:615190
Leukodystrophy, Hypomyelinating, 24	B lymphocytopenia	OMIM:619851
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Megaloblastic anemia, Lethargy	OMIM:236270
Cerebrooculofacioskeletal Syndrome 1	Dehydration, Death in childhood	OMIM:214150
Neuralgic Amyotrophy	Acrocyanosis	ORPHA:2901
Glycerol Kinase Deficiency	Coma, Lethargy, Loss of consciousness	OMIM:307030
Kimura Disease	Eosinophilia, Increased circulating IgE level	ORPHA:482
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Decreased lymphocyte proliferation in response to anti-CD3, Hypoplasia of the thymus, B lymphocyt...	OMIM:619313
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Dehydration, Thrombocytopenia, Death in infancy, Oligohydramnios, Jaundice	OMIM:208085
Pearson Marrow-Pancreas Syndrome	Hypoplastic anemia, Neutropenia, Sideroblastic anemia, Dehydration, Death in childhood, Hydrops f...	OMIM:557000
Immunodeficiency By Defective Expression Of Mhc Class Ii	Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Neutropenia i...	ORPHA:572
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Agammaglobulinemia, Decreased circulating antibody level	OMIM:616910
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased circulating IgA level, Decreased circulating antibody level	OMIM:617744
Combined Oxidative Phosphorylation Deficiency 52	Death in infancy, Lethargy	OMIM:619386
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia	Transient hypogammaglobulinemia of infancy	OMIM:251240
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Coma, Delirium, Confusion, Drowsiness, Lethargy, Loss of consciousness	ORPHA:927
Dihydrolipoamide Dehydrogenase Deficiency	Lethargy	OMIM:246900
Thiamine-Responsive Megaloblastic Anemia Syndrome	Megaloblastic anemia, Thrombocytopenia, Lethargy	ORPHA:49827
3-Hydroxy-3-Methylglutaric Aciduria	Coma, Leukocytosis, Dehydration, Leukopenia, Thrombocytosis, Hypoglycemic coma, Edema, Anemia, Ja...	ORPHA:20
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Dehydration, Death in childhood, Death in adolescence	OMIM:560000
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Thrombocytopenia, Decreased circulating antibody level	OMIM:616576
Enteric Anendocrinosis	Dehydration	ORPHA:83620
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Cyanosis	ORPHA:91130
Congenital Enterocyte Heparan Sulfate Deficiency	Dehydration, Edema	ORPHA:103910
Hemochromatosis, Type 2A	Lethargy, Splenomegaly	OMIM:602390
Galactosemia	Ascites, Jaundice, Abnormal erythrocyte enzyme level, Lethargy	ORPHA:352
Griscelli Syndrome	Splenomegaly, Leukopenia, Thrombocytopenia, Abnormality of neutrophils, Pedal edema, Decreased ci...	ORPHA:381
Hyperphenylalaninemia, Bh4-Deficient, B	Dysphagia, Lethargy	OMIM:233910
Carnitine Deficiency, Systemic Primary	Excessive daytime somnolence, Coma, Confusion, Lethargy	OMIM:212140
Schnitzler Syndrome	Urticaria, Leukocytosis, Splenomegaly, Increased circulating IgM level, Anemia	ORPHA:37748
Familial Hemophagocytic Lymphohistiocytosis	Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration...	ORPHA:540
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased specific anti-polysaccharide antibody level, Decreased lymphocyte proliferation in resp...	OMIM:606367
X-Linked Immunoneurologic Disorder	Decreased circulating IgG2 level	ORPHA:2571
Riboflavin Deficiency	Lethargy	OMIM:615026
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Lymphopenia, Aplasia of the thymus, Splenomegaly, Abnormally low T cell receptor excision circle ...	OMIM:602450
Insulinoma	Fluctuations in consciousness, Coma, Polyphagia, Reduced consciousness/confusion, Lethargy	ORPHA:97279
Trichinellosis	Facial edema, Confusion, Dysphagia, Edema, Periorbital edema, Excessive daytime somnolence, Reduc...	ORPHA:863
Selective Igm Deficiency	Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of transitional B cell...	ORPHA:331235
Lambert Syndrome	Decreased circulating antibody level, Jaundice	ORPHA:1296
Lymphoproliferative Syndrome 2	Decreased lymphocyte proliferation in response to mitogen, Hemophagocytosis, Splenomegaly, Hepato...	OMIM:615122
Classic Galactosemia	Ascites, Jaundice, Abnormal erythrocyte enzyme level, Lethargy	ORPHA:79239
Cholera	Miscarriage, Palmoplantar cutis laxa, Dehydration, Lethargy, Loss of consciousness	ORPHA:173
Autosomal Recessive Dopa-Responsive Dystonia	Bradykinesia, Lethargy	ORPHA:101150
Ataxia-Telangiectasia	Telangiectasia of the skin, Prematurely aged appearance, Mucosal telangiectasiae, Lymphopenia, De...	ORPHA:100
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Dehydration, Oligohydramnios, Neonatal death, Splenomegaly	OMIM:263200
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency	Decreased circulating IgG level, Edema, Neutropenia	OMIM:600351
Methylcobalamin Deficiency Type Cble	Increased mean corpuscular volume, Neutropenia, Macrocytic anemia, Drowsiness, Pancytopenia, Exce...	ORPHA:2169
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG level, Lymph...	ORPHA:508533
Wolcott-Rallison Syndrome	Lymphocytosis, Dehydration, Iron deficiency anemia, Neutropenia, Ascites, Jaundice	ORPHA:1667
Citrullinemia Type Ii	Fluctuations in consciousness, Coma, Delirium, Confusion, Abnormal eating behavior, Drowsiness, C...	ORPHA:247585
Laryngotracheoesophageal Cleft	Cyanosis, Choking episodes, Impaired oropharyngeal swallow response	ORPHA:2004
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Decreased circulating IgA level, Abnormal T cell morphology	OMIM:215250
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Decreased mean corpuscular volume, Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis, Lethargy	OMIM:611590
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Dehydration	OMIM:602722
Central Neurocytoma	Coma, Lethargy	ORPHA:73256
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Perioral erythema, Splenomegaly, Impaired T cell function, Perianal erythema, Lethargy	OMIM:201100
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Lethargy	OMIM:610006
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Anemia, Death in childhood, Coma, Lethargy	OMIM:615838
Pseudo-Torch Syndrome 2	Petechiae, Thrombocytopenia, Pleural effusion, Ascites, Lethargy	OMIM:617397
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Decreased circulating antibody level	ORPHA:85317
Benign Samaritan Congenital Myopathy	Lethargy	ORPHA:324581
Citrullinemia Type I	Coma, Lethargy, Loss of consciousness	ORPHA:247525
Infantile Liver Failure Syndrome 2	Jaundice, Lethargy	OMIM:616483
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To	Coma, Cerebral edema, Lethargy	OMIM:237300
Familial Thyroid Dyshormonogenesis	Facial edema, Lethargy, Prolonged neonatal jaundice	ORPHA:95716
Leukoencephalopathy With Vanishing White Matter	Lethargy	OMIM:603896
Myotonic Dystrophy 2	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:602668
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Coma, Leukocytosis, Dehydration, Schistocytosis, Excessive daytime somnolence, Microangiopathic h...	ORPHA:90038
Necrotizing Enterocolitis	Leukocytosis, Thrombocytopenia, Edema, Neutropenia, Ascites, Lethargy	ORPHA:391673
Thymic Tumor	Dysphagia, Palpebral edema, Dysgammaglobulinemia, Edema	ORPHA:100100
Hemochromatosis Type 2	Lethargy	ORPHA:79230
Lassa Fever	Miscarriage, Facial edema, Increased circulating IgM level, Dysphagia, Jaundice	ORPHA:99824
Carnitine Palmitoyl Transferase 1A Deficiency	Coma, Lethargy, Loss of consciousness	ORPHA:156
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Coma, Cerebral edema, Lethargy	OMIM:201450
Spinocerebellar Ataxia, X-Linked 3	Dysphagia, Death in infancy, Lethargy	OMIM:301790
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgA level, Decreased circulating antibody level, Decreased circulating IgG ...	OMIM:617062
Thyroid Dyshormonogenesis 1	Lethargy	OMIM:274400
Hereditary Methemoglobinemia	Methemoglobinemia, Cyanosis	ORPHA:621
Cystinosis	Dehydration, Polydipsia	ORPHA:213
Angiostrongyliasis	Increased circulating IgA level, Coma, Increased circulating IgG level, Increased circulating spe...	ORPHA:74
Marburg Hemorrhagic Fever	Increased circulating antibody level, Petechiae, Coma, Lymphopenia, Bruising susceptibility, Dehy...	ORPHA:99826
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Cyanosis, Polycythemia	OMIM:250800
Benign Familial Infantile Epilepsy	Cyanosis	ORPHA:306
Maple Syrup Urine Disease	Coma, Cerebral edema, Lethargy	OMIM:248600
Bloom Syndrome	Decreased circulating IgA level, Decreased circulating IgG level, Facial telangiectasia in butter...	OMIM:210900
Bloom Syndrome	Decreased circulating IgA level, Abnormal proportion of CD8-positive T cells, Decreased circulati...	ORPHA:125
Alopecia Antibody Deficiency	Decreased circulating antibody level	ORPHA:1006
Methylmalonyl-Coa Epimerase Deficiency	Dehydration	OMIM:251120
Cyclic Vomiting Syndrome	Lethargy	OMIM:500007
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Lymphopenia, Leukocytosis, Death in childhood, Hypoplasia of the thymus, Polyhydramnios, Thromboc...	OMIM:243150
Cirrhosis, Familial	Ascites, Jaundice, Lethargy	OMIM:215600
Zika Virus Disease	Miscarriage, Subcutaneous hemorrhage, Increased circulating IgM level, Edema, Thrombocytopenia	ORPHA:448237
Dihydropyrimidinase Deficiency	Excessive daytime somnolence, Lethargy	OMIM:222748
Meningococcal Meningitis	Petechiae, Drowsiness, Purpura, Reduced consciousness/confusion, Lethargy	ORPHA:33475
Typhoid	Coma, Lethargy, Splenomegaly	ORPHA:99745
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Thrombocytopenia, Normochromic anemia, Lethargy, Neutropenia	OMIM:614857
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Decreased circulating IgA level, Reduced natural killer cell count, Increased circulating IgM lev...	OMIM:242860
Multiple Carboxylase Deficiency	Coma, Lethargy	ORPHA:148
Congenital Fibrinogen Deficiency	Loss of consciousness, Bruising susceptibility, Subcutaneous hemorrhage, Cyanosis, Splenic rupture	ORPHA:335
Congenital Short Bowel Syndrome	Dehydration	OMIM:615237
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Decreased CD4:CD8 ratio, Increased circulating IgG level, Splenomegaly	OMIM:618495
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Severe B lymphocyt...	OMIM:620005
3-Methylglutaconic Aciduria, Type Viib	Dehydration, Leukopenia, Polyhydramnios, Neutropenia, Thrombocytopenia	OMIM:616271
Secondary Short Bowel Syndrome	Polyphagia, Dehydration	ORPHA:95427
Holocarboxylase Synthetase Deficiency	Thrombocytopenia, Coma, Lethargy	ORPHA:79242
Tricuspid Atresia	Cyanosis	ORPHA:1209
Immunodeficiency 67	Increased circulating IgE level, Liver abscess, Transient neutropenia	OMIM:607676
Xq28 (MECP2) duplication	Decreased circulating IgA level, Death in childhood, Dysphagia	DECIPHER:45
Susac Syndrome	Confusion, Lethargy	ORPHA:838
Myxedema	Lethargy	OMIM:255900
Corticosterone Methyloxidase Type Ii Deficiency	Dehydration	OMIM:610600
Corticosterone Methyloxidase Type I Deficiency	Dehydration	OMIM:203400
Glucose/Galactose Malabsorption	Hypertonic dehydration	OMIM:606824
Idiopathic Intracranial Hypertension	Lethargy	ORPHA:238624
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Coma, Lethargy, Loss of consciousness	ORPHA:42
Dopa-Responsive Dystonia	Lethargy	ORPHA:255
Cystic Fibrosis	Decreased circulating antibody level	ORPHA:586
Immunodeficiency 43	Decreased circulating IgG level	OMIM:241600
Harlequin Ichthyosis	Dehydration	ORPHA:457
Infant Acute Respiratory Distress Syndrome	Hypoxemia, Cyanosis, Pulmonary edema	ORPHA:70587
Pseudohypoaldosteronism, Type I, Autosomal Recessive	Dehydration	OMIM:264350
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Abnormal serum interferon-gamma level, Hepatosplenomegaly, Panhypogammaglobulinemia, T lymphocyto...	ORPHA:79124
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Lethargy	OMIM:618120
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Megaloblastic anemia, Dehydration, Hydrops fetalis, Delirium, Neutropenia, Thrombocytopenia, Jaun...	ORPHA:79282
Acute Interstitial Pneumonia	Hypoxemia, Cyanosis, Peripheral edema, Pleural effusion, Reduced hematocrit, Pericardial effusion	ORPHA:79126
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Increased circulating IgA level, Neutrophilia, Leukocytosis, Increased circulating IgM level, Inc...	OMIM:617099
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Coma, Confusion, Lethargy	OMIM:238970
Sepsis In Premature Infants	Increased circulating interleukin 6 concentration, Petechiae, Leukocytosis, Splenomegaly, Cyanosi...	ORPHA:90051
Cryptogenic Organizing Pneumonia	Hypoxemia, Cyanosis, Neutrophilia, Leukocytosis	ORPHA:1302
Buerger Disease	Acrocyanosis	ORPHA:36258
Boutonneuse Fever	Increased circulating IgM level, Leukopenia, Thrombocytopenia, Increased circulating IgG level	ORPHA:83313
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD3-pos...	ORPHA:275
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Decreased circulating IgA level, Decreased circulating IgG level, Decreased specific pneumococcal...	ORPHA:183675
Encephalitis Lethargica	Increased circulating antibody level, Coma, Lethargy	ORPHA:83600
O'Sullivan-Mcleod Syndrome	Increased circulating antibody level, Eosinophilia	ORPHA:99965
Postsynaptic Congenital Myasthenic Syndromes	Cyanosis, Drowsiness	ORPHA:98913
Hereditary Folate Malabsorption	Megaloblastic anemia, Eosinophilia, Decreased circulating antibody level, Pancytopenia, Thrombocy...	ORPHA:90045
Immunodeficiency 82 With Systemic Inflammation	Decreased lymphocyte proliferation in response to mitogen, Joint swelling, Decreased proportion o...	OMIM:619381
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia, Cyanosis	OMIM:250790
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Death in childhood, Erythema, Pancytopenia, Cerebral edema, Lethargy	OMIM:618321
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Acrocyanosis	ORPHA:2400
Lamellar Ichthyosis	Dehydration	ORPHA:313
Neuroleptic Malignant Syndrome	Coma, Leukocytosis, Dehydration, Delirium, Thrombocytosis, Reduced consciousness/confusion, Dysph...	ORPHA:94093
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Dehydration	OMIM:177735
Visceral Steatosis, Congenital	Jaundice, Coma, Neonatal death, Lethargy	OMIM:228100
Riddle Syndrome	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	ORPHA:420741
Mitochondrial Complex I Deficiency, Nuclear Type 9	Lethargy	OMIM:618232
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Coma, Dysphagia, Confusion, Lethargy	OMIM:607483
Icf Syndrome	Abnormality of neutrophils, Anemia, Decreased circulating antibody level, Lymphopenia	ORPHA:2268
Carnitine Palmitoyltransferase I Deficiency	Coma, Lethargy	OMIM:255120
Maternal Uniparental Disomy Of Chromosome 1	Panhypogammaglobulinemia, Pancytopenia	ORPHA:251009
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Iron deficiency anemia, Thrombocytosis, Decreased circulating antibody level, Edema, Generalized ...	OMIM:226300
Genetic Transient Congenital Hypothyroidism	Lethargy, Edema, Prolonged neonatal jaundice	ORPHA:226316
Hyperimmunoglobulinemia D With Periodic Fever	Urticaria, Increased circulating IgA level, Erythema, Purpura, Acrocyanosis	ORPHA:343
Motor Neuropathy, Peripheral, With Dysautonomia	Cyanosis	OMIM:252320
Early-Onset Familial Hypoaldosteronism	Dehydration	ORPHA:556030
Pyruvate Dehydrogenase E3 Deficiency	Lethargy	ORPHA:2394
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Hypertonic dehydration, Polydipsia	OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Hypertonic dehydration, Polydipsia	OMIM:304800
Shigellosis	Splenic abscess, Urticaria, Leukocytosis, Dehydration, Abscess, Purpura, Microangiopathic hemolyt...	ORPHA:810
Osteootohepatoenteric Syndrome	Anemia, Dehydration, Prolonged neonatal jaundice	OMIM:619377
Carnitine-Acylcarnitine Translocase Deficiency	Cyanosis, Coma, Lethargy	ORPHA:159
Interstitial Pneumonitis, Desquamative, Familial	Cyanosis	OMIM:263000
Renal Hypoplasia	Dehydration, Polydipsia	ORPHA:93101
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Lethargy	OMIM:600649
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Splenomegaly, Hypochromic microcytic anemia, Schistocytosis, B lymphocytopenia, Decreased circula...	OMIM:616084
Cleft Larynx, Posterior	Cyanosis	OMIM:215800
Scrub Typhus	Lethargy, Reduced consciousness/confusion, Splenomegaly	ORPHA:83317
Asbestos Intoxication	Oxygen desaturation on exertion, Cyanosis, Hypoxemia, Edema	ORPHA:2302
Combined Oxidative Phosphorylation Deficiency 11	Death in infancy, Lethargy	OMIM:614922
Trichothiodystrophy 5, Nonphotosensitive	Cutis marmorata, Cutaneous photosensitivity, Decreased circulating antibody level, Progeroid faci...	OMIM:300953
Bare Lymphocyte Syndrome, Type Ii	Agammaglobulinemia, Cutaneous anergy, Panhypogammaglobulinemia, Neutropenia	OMIM:209920
Hyperchlorhidrosis, Isolated	Hypernatremic dehydration	OMIM:143860
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Megaloblastic anemia, Pancytopenia, Neutropenia, Thrombocytopenia, Lethargy	OMIM:277380
Holocarboxylase Synthetase Deficiency	Thrombocytopenia, Coma, Lethargy	OMIM:253270
Ring Chromosome 21 Syndrome	Cutaneous photosensitivity, Decreased circulating antibody level	ORPHA:1445
Pearson Syndrome	Neutropenia, Splenomegaly, Corneal stromal edema, Anemia, Dehydration, Hydrops fetalis, Dysphagia...	ORPHA:699
Poems Syndrome	Increased circulating antibody level, Polycythemia, Thrombocytosis, Pleural effusion, Edema, Asci...	ORPHA:2905
Hyperinsulinism Due To Hnf4A Deficiency	Drowsiness, Coma, Lethargy	ORPHA:263455
Encephalopathy, Ethylmalonic	Petechiae, Acrocyanosis, Death in infancy	OMIM:602473
Colchicine Poisoning	Leukocytosis, Dehydration, Reduced consciousness/confusion	ORPHA:31824
Immunodeficiency 23	Lymphopenia, Vasculitis in the skin, Eosinophilia, Abscess, Erythema, Increased circulating IgG l...	OMIM:615816
Pyruvate Dehydrogenase Deficiency	Lethargy	ORPHA:765
Roifman Syndrome	Eosinophilia, Decreased circulating antibody level, Hepatosplenomegaly	ORPHA:353298
Pulmonary Capillary Hemangiomatosis	Pulmonary edema, Cyanosis, Pedal edema, Pleural effusion, Hypoxemia, Pericardial effusion	ORPHA:199241
Hsd10 Disease, Infantile Type	Dysphagia, Cyanosis	ORPHA:391428
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Neutropenia in presence of anti-neutropil antibodies, Hepatosplenomegaly, Autoimmune thrombocytop...	OMIM:615952
Generalized Pseudohypoaldosteronism Type 1	Dehydration	ORPHA:171876
Hypothyroidism Due To Tsh Receptor Mutations	Lethargy, Edema, Prolonged neonatal jaundice	ORPHA:90673
Diarrhea 1, Secretory Chloride, Congenital	Polyhydramnios, Dehydration	OMIM:214700
Chiari Malformation Type Ii	Dysphagia, Cyanosis	OMIM:207950
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Death in infancy, Lethargy	OMIM:201475
Glutaric Acidemia Type 3	Lethargy	ORPHA:35706
Pulmonary Alveolar Proteinosis, Acquired	Lung abscess, Cyanosis, Brain abscess, Hypoxemia	OMIM:610910
Laryngotracheal Angioma	Cyanosis	ORPHA:137935
Dravet Syndrome	Bradykinesia, Cyanotic episode	ORPHA:33069
Dend Syndrome	Elevated hemoglobin A1c, Dehydration	ORPHA:79134
Microvillus Inclusion Disease	Dehydration	ORPHA:2290
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Increased mean corpuscular volume, Megaloblastic anemia, Lethargy	OMIM:277410
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Hepatosplenomegaly, Microcytic anemia, Decreased circulating antibody level	OMIM:619750
Benign Familial Neonatal Epilepsy	Circumoral cyanosis	ORPHA:1949
Alternating Hemiplegia Of Childhood	Dysphagia, Dehydration, Flushing, Oral-pharyngeal dysphagia	ORPHA:2131
Rift Valley Fever	Miscarriage, Macular edema, Increased circulating IgG level, Increased circulating IgM level, Red...	ORPHA:319251
Glucose-Galactose Malabsorption	Dehydration	ORPHA:35710
Surfactant Metabolism Dysfunction, Pulmonary, 1	Cyanosis, Neonatal death, Death in infancy	OMIM:265120
Hyperoxaluria, Primary, Type I	Cutis marmorata, Dehydration, Acrocyanosis	OMIM:259900
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema	Dysphagia, Decreased circulating IgG level, Neutropenia	OMIM:608809
Resistance To Thyrotropin-Releasing Hormone Syndrome	Lethargy, Prolonged neonatal jaundice	ORPHA:99832
Adrenal Hypoplasia, Congenital	Dehydration	OMIM:300200
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Coma, Lethargy	OMIM:210200
Pgm3-Cdg	Abnormal proportion of CD8-positive T cells, Lymphopenia, Neutropenia in presence of anti-neutrop...	ORPHA:443811
Fructose-1,6-Bisphosphatase Deficiency	Coma, Lethargy	OMIM:229700
Ogden Syndrome	Excessive daytime somnolence, Lethargy	ORPHA:276432
Lysosomal Acid Lipase Deficiency	Vacuolated lymphocytes, Dehydration, Hepatosplenomegaly, Bone-marrow foam cells, Anemia, Ascites,...	ORPHA:275761
Pulmonary Arteriovenous Malformation	Pleural empyema, Cyanosis, Brain abscess, Iron deficiency anemia, Hypoxemia, Telangiectasia, Live...	ORPHA:2038
Choanal Atresia	Cyanosis, Choking episodes	ORPHA:137914
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Lethargy	ORPHA:2089
Oligomeganephronia	Dehydration, Polydipsia	ORPHA:2260
Vipoma	Dehydration, Erythema, Subcutaneous lipoma, Ascites, Normochromic anemia, Intermittent jaundice	ORPHA:97282
Congenital Myasthenic Syndrome	Dysphagia, Polyhydramnios, Cyanosis, Choking episodes	ORPHA:590
Simple Cryoglobulinemia	Vascular skin abnormality, Complement deficiency, Monoclonal elevation of circulating IgA, Monocl...	ORPHA:91139
Presynaptic Congenital Myasthenic Syndromes	Dysphagia, Polyhydramnios, Cyanosis, Choking episodes	ORPHA:98914
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Decreased circulating IgA level, Decreased circulating total IgM	ORPHA:369837
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Megaloblastic anemia, Delirium, Confusion, Neutropenia, Thrombocytopenia, Lethargy	OMIM:277400
Hypoadrenocorticism, Familial	Cyanosis	OMIM:240200
Symptomatic Form Of Hemochromatosis Type 1	Joint swelling, Lethargy, Splenomegaly	ORPHA:465508
Tick-Borne Encephalitis	Coma, Leukocytosis, Decreased vigilance, Leukopenia, Delirium, Increased circulating IgG level, A...	ORPHA:297
Congenital Tufting Enteropathy	Dehydration	ORPHA:92050
Sting-Associated Vasculopathy, Infantile-Onset	Telangiectasia, Increased circulating IgA level, Lymphopenia, Cutis marmorata, Leukopenia, Erythe...	OMIM:615934
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Oligohydramnios, Death in infancy, Lethargy	OMIM:608836
Mitochondrial Trifunctional Protein Deficiency	Hydrops fetalis, Lethargy	OMIM:609015
Lysinuric Protein Intolerance	Increased circulating antibody level, Coma, Oral aversion, Hemophagocytosis, Complement deficienc...	ORPHA:470
Glycogen Storage Disease Of Heart, Lethal Congenital	Cyanosis, Ascites, Pulmonary edema	OMIM:261740
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Jaundice, Pericardial effusion, Lethargy	ORPHA:26793
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Severe B lymphocytopenia, Decreased circulating antibody level, Autoimmune thrombocytopenia, Abno...	ORPHA:293978
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