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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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.

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 Similarity of
phenotypes
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
Ataxia-Telangiectasia