banner
Genes Phenotypes Help, News, Blog

Gene: Pou2f2 MGI:101897

Log in to follow
Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
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.

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
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco... OMIM:615897
Immunodeficiency 62
Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Decreased circulating total ... OMIM:618459
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... OMIM:619707
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Decreased circulating total IgM, Lymphocytosis OMIM:606445
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, B lymphocytopenia, Abnormally l... OMIM:618987
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... OMIM:613493
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Decreased ... OMIM:619924
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati... OMIM:613500
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... OMIM:617765
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... ORPHA:859
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec... OMIM:613502
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... OMIM:153600
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Immunodeficiency 44
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... OMIM:616636
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro... OMIM:618944
Immunodeficiency 50
Lymphopenia, Neutropenia, Decreased circulating antibody level OMIM:300988
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, B lymphocytopeni... OMIM:612692
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level OMIM:616911
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... OMIM:615206
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Reduced natural killer cell activity,... OMIM:300400
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Decreased circulating total IgM... OMIM:619281
Immunodeficiency 70
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... 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
Chronic Hiccup
Abnormal eating behavior, Dehydration, Depression ORPHA:396
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Decreased proporti... OMIM:611926
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased circulating IgM le... OMIM:615513
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Partial absence of specific antibody response ... OMIM:301082
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia OMIM:615214
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ... OMIM:619705
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Immunodeficiency, Common Variable, 1
Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Dec... OMIM:607594
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... OMIM:605258
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Immunodeficiency 61
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased ... OMIM:300310
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:615401
Immunodeficiency With Hyper-Igm, Type 5
Increased circulating IgM level, Decreased circulating IgG level, Impaired Ig class switch recomb... OMIM:608106
Immunodeficiency 85 And Autoimmunity
Lymphopenia, Decreased circulating total IgM, T lymphocytopenia, Decreased circulating IgE, Decre... OMIM:619510
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level OMIM:616873
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu... OMIM:619846
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreased lymphocyte proli... OMIM:615592
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis OMIM:235900
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... OMIM:613501
Immunodeficiency, Common Variable, 7
Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par... OMIM:614699
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Genital edema, Abnormal immunoglobulin level, Increased T cell count, Increased circulating IgE l... ORPHA:98813
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased... OMIM:618394
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level OMIM:247800
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:312863
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG OMIM:613495
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Death in infancy, Impulsivity, Aggressive behavior, Lethargy OMIM:605899
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death, Eosinophilia, Neutropenia OMIM:257100
Immunodeficiency 95
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level OMIM:619773
Immunodeficiency 11B With Atopic Dermatitis
Decreased circulating total IgM, Increased circulating IgE level, Eosinophilia OMIM:617638
Autoinflammatory Disease, Systemic, X-Linked
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:301081
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Partial absence of specific antibody response to tetanus vaccine, Reduced nat... OMIM:618261
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopenia, Decreas... OMIM:614069
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T cell pr... OMIM:619774
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophi... ORPHA:331206
Central Diabetes Insipidus
Anorexia, Dehydration, Depression, Lethargy, Polydipsia ORPHA:178029
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Isovaleric Acidemia
Pancytopenia, Dehydration, Leukopenia, Bone marrow hypocellularity, Lethargy, Thrombocytopenia OMIM:243500
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Decreased lymphocyte proliferation in response to anti-CD3, Splenomegaly, Absent ci... OMIM:620282
Cernunnos-Xlf Deficiency
Thrombocytopenia, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Lym... ORPHA:169079
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM, Telangiectases of the cheeks, Livedo OMIM:615139
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Reticular Dysgenesis
Abnormality of neutrophils, Dehydration, Decreased circulating antibody level, Leukopenia, Anemia ORPHA:33355
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... OMIM:610163
Methemoglobinemia, Beta Type
Cyanosis, Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis, Methemoglobinemia OMIM:617973
Immunodeficiency 97 With Autoinflammation
Lymphopenia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, E... OMIM:619802
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Vitamin B12-Responsive Methylmalonic Acidemia
Lethargy, Anemia, Dehydration ORPHA:28
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Lethargy, Anorexia ORPHA:79283
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased proportion of class-switched memory B cells, Decreased... OMIM:614878
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Lymphopenia, Splenomegaly, Decreased circulating total IgM, Leukopenia, Decreased circulating IgG... OMIM:620210
Sneddon Syndrome
Cutis marmorata, Livedo reticularis, Livedo, Decreased circulating total IgM, Livedo racemosa, Ly... OMIM:182410
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Abnormal proportion of... OMIM:212050
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Death in infancy, Autoimmune thrombocytopenia, Sple... OMIM:617514
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Increased circulating IgE level, Decreased circulating total IgM, Cutaneous abscess,... OMIM:619752
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Edema, Pedal edema, Stillbirth, Lymphopenia OMIM:152800
Immunodeficiency 76
Splenomegaly, T lymphocytopenia, B lymphocytopenia, Death in childhood, Lymphopenia OMIM:619164
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Decreased ci... OMIM:616100
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... OMIM:619220
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology OMIM:615617
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Death in infancy, Dehydration OMIM:251850
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anorexia, Splenomegaly, Dehydration, Anemia, Neutropenia, Lethargy, Thrombocytopenia ORPHA:79312
Whim Syndrome 1
Decreased circulating IgG level, Neutropenia, Decreased circulating antibody level OMIM:193670
Immunodeficiency 43
Decreased specific antibody response to polysaccharide vaccine, Lung abscess, Abnormal circulatin... OMIM:241600
Inflammatory Skin And Bowel Disease, Neonatal, 2
Increased circulating IgE level, Polyhydramnios, Dehydration OMIM:616069
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Lethargy, Death in childhood OMIM:618683
Immunodeficiency 48
Absence of CD8-positive T cells, Splenomegaly, Panhypogammaglobulinemia OMIM:269840
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Decreased sp... OMIM:617006
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... OMIM:202700
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Par... OMIM:618108
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... OMIM:618982
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Decreased circulating IgG level, Increased... OMIM:615767
Primary Intestinal Lymphangiectasia
Lymphopenia, Generalized edema, Edema, Pericardial effusion, Decreased circulating antibody level... ORPHA:90362
Immunodeficiency 22
Abscess, Thrombocytopenia, Decreased circulating total IgM, Decreased circulating IgE, Decreased ... OMIM:615758
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Increased circulating IgE level, Increased circulating IgG level, Decreased circula... OMIM:243700
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... ORPHA:35078
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:618204
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Cyanosis, Transient Neonatal
Reticulocytosis, Cyanosis, Jaundice, Methemoglobinemia, Anemia OMIM:613977
Transcobalamin Ii Deficiency
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased circulating t... OMIM:275350
Perching Syndrome
Cyanosis, Dysphagia OMIM:617055
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Death in infancy, Splenomegaly, Leukocytosis, Death in adolescence, Decreased circulating antibod... OMIM:618042
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... OMIM:601859
Immunodeficiency 46
Anemia, Neutropenia, Intermittent thrombocytopenia, Decreased circulating antibody level OMIM:616740
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat... OMIM:617241
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Increased circulating IgE level, Lack of T cell function, T lymphocytopenia, Abnormality of humor... ORPHA:277
Vitamin B12-Unresponsive Methylmalonic Acidemia
Macrocytic anemia, Thrombocytopenia, Dehydration, Leukopenia, Lethargy, Anemia ORPHA:27
Diabetes Mellitus, Transient Neonatal, 1
Dehydration OMIM:601410
Early Myoclonic Encephalopathy
Lethargy, Dysphagia ORPHA:1935
Diarrhea 4, Malabsorptive, Congenital
Dehydration OMIM:610370
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Splenomegaly, Chronic lymphatic leukemia, Increased circulating ... OMIM:616005
Familial Cold Urticaria
Urticaria, Polydipsia, Erythema, Dehydration ORPHA:47045
Combined Oxidative Phosphorylation Deficiency 2
Neonatal death, Lethargy, Edema OMIM:610498
Hypothyroidism, Congenital, Nongoitrous, 7
Lethargy OMIM:618573
Mitochondrial Complex I Deficiency, Nuclear Type 3
Lethargy, Death in childhood OMIM:618224
Lactase Deficiency, Congenital
Dehydration OMIM:223000
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased circulating a... OMIM:615285
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Panhypogammaglobulinemia, B lymphocytopenia OMIM:601457
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells OMIM:619693
Classic Glucose Transporter Type 1 Deficiency Syndrome
Abnormal erythrocyte morphology, Lethargy, Cyanosis ORPHA:71277
Gaba-Transaminase Deficiency
Lethargy, Death in childhood OMIM:613163
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Anemia, Hepatosplenomegaly OMIM:273680
Mu-Heavy Chain Disease
Splenomegaly, Abnormal B cell count, Increased circulating antibody level, Anemia ORPHA:100024
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Absent specific antibody response, Lymphopenia, Severe B lymphocytopenia, Aplasia of the thymus, ... OMIM:102700
Combined Malonic And Methylmalonic Aciduria
Dehydration OMIM:614265
Evans Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Jaundice, Neutropenia in presence of an... ORPHA:1959
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hyperactivity OMIM:274270
Immunodeficiency 92
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt... OMIM:619652
Glut1 Deficiency Syndrome 1
Lethargy, Paroxysmal lethargy OMIM:606777
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell activity, Spleno... OMIM:308240
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne... ORPHA:436159
Congenital Disorder Of Glycosylation, Type Iir
Decreased proportion of CD4-positive T cells, Jaundice, Ascites, Decreased circulating antibody l... OMIM:301045
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Increased... OMIM:614470
Breath-Holding Spells
Iron deficiency anemia, Cyanosis OMIM:607578
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Decrease... OMIM:300853
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Homocystinuria Without Methylmalonic Aciduria
Lethargy ORPHA:622
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Dehydration OMIM:602199
Isobutyryl-Coa Dehydrogenase Deficiency
Dehydration ORPHA:79159
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple... OMIM:614700
Bone Marrow Failure Syndrome 4
Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocyt... OMIM:618116
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Hepatosplenomegaly, Abnormal natural killer cell physiology, Decreased circulating ... OMIM:613101
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lethargy OMIM:613710
Hypercalcemia, Infantile, 1
Lethargy, Dehydration OMIM:143880
Hereditary Central Diabetes Insipidus
Lethargy, Polydipsia ORPHA:30925
Severe Canavan Disease
Lethargy, Oral-pharyngeal dysphagia ORPHA:314911
Immunoneurologic Disorder, X-Linked
Neonatal death, Decreased circulating IgG2 level OMIM:300076
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased circulating IgG level, Pancytopenia, Decreased lymphocyte proliferation in response to ... OMIM:618986
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Abnormal circulating IgM level, Increased circulating IgA level, Increas... OMIM:618048
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T... OMIM:619767
Agammaglobulinemia, X-Linked
Agammaglobulinemia, Decreased circulating total IgM, T lymphocytopenia, Decreased circulating IgE... OMIM:300755
Myeloma, Multiple
Paraproteinemia OMIM:254500
Combined Oxidative Phosphorylation Deficiency 47
Dehydration, Dysphagia OMIM:618958
Methylmalonic Acidemia With Homocystinuria
Lethargy ORPHA:26
Autoimmune Lymphoproliferative Syndrome
Hydrops fetalis, Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decrease... ORPHA:3261
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, Decreased proportion ... ORPHA:169154
Developmental And Epileptic Encephalopathy 92
Lethargy OMIM:617829
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circula... OMIM:308230
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Anemia ORPHA:158014
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Increased circulating IgM level, Monocytosis, Neutropenia, Monocytopen... ORPHA:2688
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Lethargy, Sideroblastic anemia, Dysphagia OMIM:613561
Phosphoserine Aminotransferase Deficiency
Death in infancy, Cyanotic episode OMIM:610992
High Altitude Pulmonary Edema
Cyanosis, Anorexia, Leukocytosis, Hypoxemia, Pulmonary edema ORPHA:330012
N-Acetylglutamate Synthase Deficiency
Lethargy, Aggressive behavior OMIM:237310
Immunodeficiency, Common Variable, 10
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:615577
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... OMIM:603909
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Lethargy OMIM:617900
Autosomal Agammaglobulinemia
Agammaglobulinemia, Dehydration, Neutropenia ORPHA:33110
Developmental And Epileptic Encephalopathy 40
Lethargy OMIM:617065
Thiamine-Responsive Megaloblastic Anemia Syndrome
Anorexia, Lethargy, Thrombocytopenia, Megaloblastic anemia ORPHA:49827
Propionic Acidemia
Pancytopenia, Dehydration, Anemia, Neutropenia, Lethargy, Thrombocytopenia OMIM:606054
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Dehydration, Leukopenia, Neutropenia, Lethargy, Thrombocytopenia OMIM:251000
Combined Oxidative Phosphorylation Deficiency 52
Lethargy, Anorexia, Death in infancy OMIM:619386
Congenital Pulmonary Lymphangiectasia
Cyanosis, Splenomegaly, Hydrops fetalis, Chylopericardium, Pleural effusion, Ascites ORPHA:2414
Netherton Syndrome
Urticaria, Increased circulating IgE level, Dehydration, Decreased circulating antibody level ORPHA:634
Immunodeficiency 17
Death in infancy, Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Chro... OMIM:615607
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Decreased... OMIM:617780
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Congenital Disorder Of Glycosylation, Type Ig
Edema, Polyhydramnios, Decreased circulating total IgM, Lethargy, Decreased circulating IgG level... OMIM:607143
Immunodeficiency 83, Susceptibility To Viral Infections
Lethargy OMIM:613002
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease... OMIM:600802
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Eosinophilia, Hepatosplenomegaly, Increased circulating antibody level, Decreased ly... ORPHA:169160
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Immunodeficiency, Common Variable, 6
Complete or near-complete absence of specific antibody response to tetanus vaccine, Chronic decre... OMIM:613496
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Lethal Infantile Mitochondrial Myopathy
Lethargy ORPHA:254857
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level ORPHA:99811
Dihydrolipoamide Dehydrogenase Deficiency
Lethargy, Death in childhood OMIM:246900
Mogs-Cdg
Generalized edema, Pulmonary edema, Edema, Polyhydramnios, Hepatosplenomegaly, Decreased circulat... ORPHA:79330
Xq28 (MECP2) duplication
Dysphagia, Depression, Death in childhood, Abnormal repetitive mannerisms, Decreased circulating ... DECIPHER:45
Cyclic Vomiting Syndrome
Lethargy, Attention deficit hyperactivity disorder, Anorexia OMIM:500007
Crigler-Najjar Syndrome
Lethargy, Jaundice ORPHA:205
Immunodeficiency, Common Variable, 2
Impaired T cell function, Splenomegaly, Decreased circulating IgG level, Partial absence of speci... OMIM:240500
Beta-Ketothiolase Deficiency
Edema, Anorexia, Leukocytosis, Dehydration, Apathy, Agitation, Oral aversion, Thrombocytosis ORPHA:134
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Death in infancy, Decreased circulating total IgG, Splenomeg... OMIM:300972
Lymphoproliferative Syndrome 1
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Pericardial effusion, Thr... OMIM:613011
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased lymphocyte proliferation in response to anti-CD3, Abnormal T cell subset distribution, ... ORPHA:221139
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Increased circulating IgE level, B lymphocytopenia ORPHA:217390
Febrile Infection-Related Epilepsy Syndrome
Lethargy ORPHA:163703
Staphylococcal Necrotizing Pneumonia
Neutrophilia, Leukocytosis, Hypoxemia, Leukopenia, Pleural empyema, Addictive alcohol use, Lethar... ORPHA:36238
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphedema, Lymphopenia, Decreased circulating antibody level ORPHA:1116
Immunodeficiency 27A
Anorexia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Increased circulating IgG level, Increa... OMIM:209950
Idiopathic Congenital Hypothyroidism
Facial edema, Lethargy, Prolonged neonatal jaundice ORPHA:95717
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Anorexia, Thrombocytopenia, Erythema, Reticulocytopenia, Hydr... OMIM:557000
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent throm... OMIM:150550
Ebola Hemorrhagic Fever
Leukopenia, Increased circulating antibody level, Dysphagia, Lethargy, Lymphopenia, Thrombocytopenia ORPHA:319218
Mitochondrial Complex I Deficiency, Nuclear Type 4
Lethargy, Death in childhood OMIM:618225
Alpha-Heavy Chain Disease
Splenomegaly, Ascites, Dysgammaglobulinemia, Anemia ORPHA:100025
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Anorexia, Hepatosplenomegaly, Decreased mean corpuscular volum... OMIM:611590
Combined Malonic And Methylmalonic Acidemia
Dehydration ORPHA:289504
Classic Galactosemia
Abnormal erythrocyte enzyme level, Jaundice, Depression, Attention deficit hyperactivity disorder... ORPHA:79239
Methylmalonic Aciduria, Cblb Type
Pancytopenia, Dehydration, Anemia, Neutropenia, Lethargy, Thrombocytopenia OMIM:251110
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, In... OMIM:615559
Short Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy ORPHA:26792
Laryngeal Abductor Paralysis
Cyanosis, Dysphagia OMIM:150260
Dengue Fever
Petechiae, Leukopenia, Ascites, Lethargy, Bruising susceptibility, Thrombocytopenia ORPHA:99828
Immunodeficiency 68
T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess OMIM:612260
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased circulating IgG level, Lymphopenia, Decreased proportion of naive T cells, Abnormal imm... ORPHA:276
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Lymp... OMIM:300291
Transient Neonatal Diabetes Mellitus
Dehydration ORPHA:99886
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, Intestinal lymphedema, Edema, Lymphedema, Chylous ascites, Decr... ORPHA:90363
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Lethargy, Agitation ORPHA:276608
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Bone marrow hypocellularity, Hemoph... OMIM:301078
Activated Pi3K-Delta Syndrome
Splenomegaly, Increased circulating IgM level, B lymphocytopenia, Decreased circulating antibody ... ORPHA:397596
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... OMIM:619632
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Lethargy, Death in infancy, Death in childhood OMIM:619064
Netherton Syndrome
Hypernatremic dehydration, Angioedema, Increased circulating IgE level, Hypereosinophilia, Urtica... OMIM:256500
3-Hydroxy-3-Methylglutaric Aciduria
Thrombocytosis, Edema, Anorexia, Leukocytosis, Jaundice, Dehydration, Leukopenia, Apathy, Letharg... ORPHA:20
Carnitine Deficiency, Systemic Primary
Lethargy, Dehydration OMIM:212140
Mitochondrial Complex I Deficiency, Nuclear Type 9
Neonatal death, Lethargy OMIM:618232
Dyskeratosis Congenita, Autosomal Recessive 5
Leukopenia, Bone marrow hypocellularity, Decreased circulating antibody level OMIM:615190
Dyskeratosis Congenita, Digenic
Decreased circulating total IgM, Dysphagia, Decreased circulating IgG level, Anemia, Decreased ci... OMIM:620040
Hyperinsulinism Due To Ucp2 Deficiency
Lethargy, Agitation, Polyphagia ORPHA:276556
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Aplastic anemia, Splenomegaly, Decreased circulating antibody level, Hemophagocytosis OMIM:300635
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Agammaglobulinemia 1, Autosomal Recessive
Decreased circulating antibody level, Agammaglobulinemia, Rectal abscess, B lymphocytopenia, Neut... OMIM:601495
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Tempi Syndrome
Transudative pleural effusion, Telangiectasia, Hypoxemia, Increased circulating IgG level, Facial... ORPHA:284227
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Eosinophilia, Edema, Muscular edema, Acrocyanosis ORPHA:3165
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in... OMIM:619313
Neuralgic Amyotrophy
Acrocyanosis ORPHA:2901
Selective Igm Deficiency
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Decreased proportion o... ORPHA:331235
Cerebrooculofacioskeletal Syndrome 1
Dehydration, Death in childhood OMIM:214150
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Lethargy, Agitation, Polyphagia ORPHA:276575
Pontocerebellar Hypoplasia, Type 6
Lethargy, Death in childhood OMIM:611523
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Lethargy, Thrombocytopenia, Anemia, Neutropenia ORPHA:289916
Kimura Disease
Increased circulating IgE level, Eosinophilia ORPHA:482
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Lethargy, Agitation, Polyphagia ORPHA:276580
Combined Oxidative Phosphorylation Deficiency 11
Death in infancy, Polyhydramnios, Stillbirth, Death in childhood, Neonatal death, Lethargy OMIM:614922
Hyperphenylalaninemia, Bh4-Deficient, B
Lethargy, Dysphagia OMIM:233910
Hyperlysinuria With Hyperammonemia
Lethargy OMIM:238750
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis ORPHA:91130
Congenital Heart Block
Cyanosis, Pericardial effusion, Hydrops fetalis, Peripheral edema, Pleural effusion, Oligohydramnios ORPHA:60041
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Agammaglobulinemia, Decreased circulating antibody level OMIM:616910
Hyperinsulinism Due To Hnf1A Deficiency
Lethargy, Agitation, Polyphagia ORPHA:324575
Osteopetrosis, Autosomal Recessive 7
Death in infancy, Splenomegaly, Decreased circulating total IgM, Death in childhood, Decreased ci... OMIM:612301
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmune hemolytic anemia, Abnormal CD4:CD8 ratio, Autoimmune thrombocytopenia, N... ORPHA:572
Mitochondrial Complex I Deficiency, Nuclear Type 5
Lethargy, Dysphagia OMIM:618226
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia, Decreased circulating antibody level OMIM:616576
Congenital Enterocyte Heparan Sulfate Deficiency
Edema, Dehydration ORPHA:103910
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating IgA level, Decreased circulating antibody level OMIM:617744
Enteric Anendocrinosis
Dehydration ORPHA:83620
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Transient hypogammaglobulinemia of infancy OMIM:251240
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Death in infancy, Jaundice, Dehydration, Thrombocytopenia, Oligohydramnios OMIM:208085
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Death in adolescence, Dehydration, Death in childhood OMIM:560000
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Lymphopenia, Polyhydramnios, Decreased proportion of CD8-positive T cells, Increased circulating ... ORPHA:508533
Griscelli Syndrome
Abnormality of neutrophils, Splenomegaly, Jaundice, Pedal edema, Decreased circulating antibody l... ORPHA:381
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Normocytic anemia, Lethargy, Megaloblastic anemia OMIM:236270
Hemochromatosis, Type 2A
Splenomegaly, Lethargy OMIM:602390
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Eosinophilia, Splenomegaly, Increased circulating IgE level, B lymphocytop... OMIM:602450
Schnitzler Syndrome
Splenomegaly, Leukocytosis, Urticaria, Increased circulating IgM level, Anemia ORPHA:37748
Methylmalonic Aciduria, Cbla Type
Pancytopenia, Dehydration, Anemia, Neutropenia, Lethargy, Thrombocytopenia OMIM:251100
Harlequin Ichthyosis
Self-injurious behavior, Dehydration ORPHA:457
Cryptogenic Organizing Pneumonia
Neutrophilia, Cyanosis, Anorexia, Leukocytosis, Hypoxemia ORPHA:1302
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... OMIM:606367
Riboflavin Deficiency
Lethargy OMIM:615026
Ataxia-Telangiectasia
Telangiectasia of the skin, Prematurely aged appearance, Decreased circulating antibody level, Pr... ORPHA:100
Lambert Syndrome
Jaundice, Decreased circulating antibody level ORPHA:1296
Dihydropyrimidinase Deficiency
Lethargy OMIM:222748
Autosomal Recessive Dopa-Responsive Dystonia
Bradykinesia, Lethargy ORPHA:101150
Laryngotracheoesophageal Cleft
Impaired oropharyngeal swallow response, Cyanosis, Choking episodes ORPHA:2004
Wolcott-Rallison Syndrome
Jaundice, Dehydration, Iron deficiency anemia, Lymphocytosis, Neutropenia, Ascites ORPHA:1667
Lymphoproliferative Syndrome 2
Pancytopenia, Aplastic anemia, Splenomegaly, Hepatosplenomegaly, Decreased circulating antibody l... OMIM:615122
Glutaric Acidemia Type 3
Lethargy, Impulsivity ORPHA:35706
Central Neurocytoma
Lethargy, Depression ORPHA:73256
Benign Samaritan Congenital Myopathy
Lethargy ORPHA:324581
Idiopathic Intracranial Hypertension
Lethargy, Depression ORPHA:238624
Pseudo-Torch Syndrome 2
Petechiae, Lethargy, Pleural effusion, Ascites, Thrombocytopenia OMIM:617397
Leukodystrophy, Hypomyelinating, 24
B lymphocytopenia OMIM:619851
Cystinosis
Polydipsia, Abnormal repetitive mannerisms, Dehydration ORPHA:213
Mitochondrial Complex I Deficiency, Nuclear Type 6
Lethargy OMIM:618228
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Perianal erythema, Impaired T cell function, Splenomegaly, Perioral erythema, Lethargy OMIM:201100
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level, Abnormal T cell morphology OMIM:215250
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,... OMIM:603554
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Decreased circulating antibody level ORPHA:85317
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Lethargy OMIM:610006
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Dehydration OMIM:602722
Holocarboxylase Synthetase Deficiency
Lethargy, Thrombocytopenia, Anorexia ORPHA:79242
Infantile Liver Failure Syndrome 2
Lethargy, Jaundice OMIM:616483
Bloom Syndrome
Decreased circulating IgG level, Elevated hemoglobin A1c, Facial erythema, Decreased circulating ... OMIM:210900
Leukoencephalopathy With Vanishing White Matter 1
Lethargy OMIM:603896
Familial Thyroid Dyshormonogenesis
Facial edema, Lethargy, Prolonged neonatal jaundice ORPHA:95716
Lassa Fever
Miscarriage, Facial edema, Jaundice, Increased circulating IgM level, Dysphagia ORPHA:99824
Pyruvate Dehydrogenase E1-Alpha Deficiency
Lethargy OMIM:312170
Cholera
Palmoplantar cutis laxa, Lethargy, Miscarriage, Dehydration ORPHA:173
Hjv Or Hamp-Related Hemochromatosis
Lethargy ORPHA:79230
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Lethargy, Agitation, Abnormal repetitive mannerisms ORPHA:927
Bloom Syndrome
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Abscess, Telangiectasia, De... ORPHA:125
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Pancytopenia, Aggressive behavior, Erythema, Death in childhood, Lethargy, Cerebral edema OMIM:618321
Necrotizing Enterocolitis
Edema, Leukocytosis, Neutropenia, Lethargy, Ascites, Thrombocytopenia ORPHA:391673
Trichinellosis
Edema, Facial edema, Periorbital edema, Increased circulating IgE level, Apathy, Dysphagia, Lethargy ORPHA:863
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Petechiae, Reduced natural killer cell activit... ORPHA:540
Hereditary Methemoglobinemia
Cyanosis, Methemoglobinemia ORPHA:621
Alopecia Antibody Deficiency
Decreased circulating antibody level ORPHA:1006
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Decreased circulating total IgG, Anorexia, Splenomegaly, D... OMIM:619381
Methylmalonyl-Coa Epimerase Deficiency
Dehydration OMIM:251120
Thyroid Dyshormonogenesis 1
Lethargy OMIM:274400
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Dehydration OMIM:620126
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Death in infancy, Autoimmune hemolyti... OMIM:243150
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Dehydration OMIM:620125
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Splenomegaly, Increased circulating IgG level, Autoimmune hemolytic anemia, Decreased CD4:CD8 ratio OMIM:618495
Marburg Hemorrhagic Fever
Reticulocytosis, Lymphopenia, Anorexia, Aggressive behavior, Thrombocytopenia, Jaundice, Neutroph... ORPHA:99826
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Lethargy, Anemia, Death in childhood OMIM:615838
Meningococcal Meningitis
Anorexia, Lethargy, Petechiae, Purpura ORPHA:33475
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Lethargy, Normochromic anemia, Thrombocytopenia, Neutropenia OMIM:614857
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Methemoglobinemia, Polycythemia OMIM:250800
Zika Virus Disease
Miscarriage, Subcutaneous hemorrhage, Edema, Increased circulating IgM level, Thrombocytopenia ORPHA:448237
Citrullinemia Type Ii
Restlessness, Hyperactivity, Aggressive behavior, Abnormal eating behavior, Lethargy, Mania, Cere... ORPHA:247585
Dravet Syndrome
Bradykinesia, Obsessive-compulsive trait, Cyanotic episode, Impulsivity ORPHA:33069
Immunodeficiency 32B
Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Abnormal circulating ... OMIM:226990
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Increased circulating IgM level, Reduced natural killer cell count, T lymphocytopenia, Decreased ... OMIM:242860
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Dehydration OMIM:264350
3-Methylglutaconic Aciduria, Type Viib
Polyhydramnios, Dehydration, Leukopenia, Neutropenia, Thrombocytopenia OMIM:616271
Susac Syndrome
Lethargy, Apathy ORPHA:838
Congenital Short Bowel Syndrome
Dehydration OMIM:615237
Shigellosis
Abscess, Anorexia, Leukocytosis, Dehydration, Urticaria, Microangiopathic hemolytic anemia, Splen... ORPHA:810
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Lethargy OMIM:618120
Secondary Short Bowel Syndrome
Polyphagia, Dehydration ORPHA:95427
Tricuspid Atresia
Cyanosis ORPHA:1209
Corticosterone Methyloxidase Type Ii Deficiency
Dehydration OMIM:610600
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Anorexia, Megaloblastic anemia, Decreased circulating antibody level,... ORPHA:90045
Corticosterone Methyloxidase Type I Deficiency
Dehydration OMIM:203400
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Lymphopenia, Severe B lymphocytopenia, Thrombocytopenia, Decreased circulating ... OMIM:620005
Cirrhosis, Familial
Lethargy, Jaundice, Ascites OMIM:215600
Bone Marrow Failure Syndrome 5
Anemia, Erythroid hypoplasia, Pure red cell aplasia, Decreased circulating antibody level OMIM:618165
Hsd10 Disease, Infantile Type
Restlessness, Cyanosis, Paroxysmal bursts of laughter, Dysphagia ORPHA:391428
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Multiple Mitochondrial Dysfunctions Syndrome 1
Neonatal death, Lethargy, Death in infancy OMIM:605711
Infant Acute Respiratory Distress Syndrome
Hypoxemia, Cyanosis, Pulmonary edema ORPHA:70587
Sepsis In Premature Infants
Increased circulating interleukin 6 concentration, Cyanosis, Edema, Thrombocytopenia, Jaundice, L... ORPHA:90051
Glucose/Galactose Malabsorption
Hypertonic dehydration OMIM:606824
Immunodeficiency 67
Liver abscess, Transient neutropenia, Increased circulating IgE level OMIM:607676
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Lethargy OMIM:250620
Buerger Disease
Acrocyanosis ORPHA:36258
Acute Interstitial Pneumonia
Cyanosis, Pericardial effusion, Hypoxemia, Peripheral edema, Reduced hematocrit, Pleural effusion ORPHA:79126
Boutonneuse Fever
Increased circulating IgG level, Thrombocytopenia, Increased circulating IgM level, Leukopenia ORPHA:83313
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Lethargy, Death in infancy OMIM:614299
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Lethargy, Cerebral edema OMIM:237300
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Impulsivity, Aggressive behavior, Tongue thrusting, Attention deficit hyperactivity dis... OMIM:619580
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Jaundice, Abnormal natural killer cell... ORPHA:79124
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Lethargy, Cerebral edema OMIM:201450
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased proportion of CD3-positive T cells, Decreased circulating IgG level, Decreased circulat... ORPHA:275
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Increased circulating IgA level, Leukocytosis, Increased circulating IgM level, Inc... OMIM:617099
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Neutropenia, Lethargy ORPHA:2169
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Dehydration OMIM:177735
Developmental And Epileptic Encephalopathy 41
Lethargy OMIM:617105
Maple Syrup Urine Disease
Lethargy, Cerebral edema OMIM:248600
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Icf Syndrome
Anemia, Lymphopenia, Abnormality of neutrophils, Decreased circulating antibody level ORPHA:2268
Insulinoma
Lethargy, Polyphagia ORPHA:97279
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Increased circulating IgE level, Decreased circulating IgA level, Cutaneous abscess... OMIM:618282
Pyruvate Dehydrogenase E3 Deficiency
Lethargy ORPHA:2394
Alternating Hemiplegia Of Childhood
Anorexia, Aggressive behavior, Oral-pharyngeal dysphagia, Impulsivity, Dehydration, Dysphagia, Fl... ORPHA:2131
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Neonatal death, Splenomegaly, Dehydration, Oligohydramnios OMIM:263200
Riddle Syndrome
Conjunctival telangiectasia, Erythema, Telangiectasia, Decreased circulating total IgM, Decreased... ORPHA:420741
Lamellar Ichthyosis
Dehydration ORPHA:313
Genetic Transient Congenital Hypothyroidism
Lethargy, Edema, Prolonged neonatal jaundice ORPHA:226316
Maternal Uniparental Disomy Of Chromosome 1
Pancytopenia, Panhypogammaglobulinemia ORPHA:251009
Typhoid
Splenomegaly, Lethargy ORPHA:99745
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Liver abscess, Decreased circulating total IgM, Decreased circulating IgG level, Decreased specif... ORPHA:183675
Hyperimmunoglobulinemia D With Periodic Fever
Increased circulating IgA level, Erythema, Urticaria, Acrocyanosis, Purpura ORPHA:343
Hyperchlorhidrosis, Isolated
Hypernatremic dehydration OMIM:143860
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Megaloblastic anemia, Jaundice, Hydrops fetalis, Dehydration, Neutropenia, Lethargy, Thrombocytop... ORPHA:79282
Roifman Syndrome
Hepatosplenomegaly, Decreased T cell activation, Eosinophilia, Decreased circulating antibody level ORPHA:353298
Acquired Methemoglobinemia
Hypoxemia, Cyanosis, Methemoglobinemia ORPHA:464453
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Lethargy, Death in infancy OMIM:604377
Familial Renal Glucosuria
Elevated hemoglobin A1c, Dehydration ORPHA:69076
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology OMIM:615966
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Edema, Decreased circulating antibody level, Iron deficiency anemia, Thrombocytosis, Ascites, Ane... OMIM:226300
Early-Onset Familial Hypoaldosteronism
Dehydration ORPHA:556030
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity OMIM:620133
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia, Hypertonic dehydration OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polydipsia, Hypertonic dehydration OMIM:304800
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Lethargy OMIM:600649
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Lethargy OMIM:238970
Asbestos Intoxication
Hypoxemia, Cyanosis, Oxygen desaturation on exertion, Edema ORPHA:2302
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis OMIM:263000
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Multifocal Atrial Tachycardia
Lethargy ORPHA:3282
Osteootohepatoenteric Syndrome
Dehydration, Anemia, Prolonged neonatal jaundice OMIM:619377
Encephalopathy, Ethylmalonic
Death in infancy, Acrocyanosis, Petechiae OMIM:602473
Immunodeficiency 12
Abnormal lymphocyte count, Absent isohemagglutinin level, Complete or near-complete absence of sp... OMIM:615468
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... OMIM:616084
Immunodeficiency 23
Hemolytic anemia, Abscess, Eosinophilia, Erythema, Increased circulating IgE level, Increased cir... OMIM:615816
Renal Hypoplasia
Polydipsia, Dehydration ORPHA:93101
Pyruvate Carboxylase Deficiency
Anorexia, Dehydration, Apathy, Compulsive behaviors, Abnormal temper tantrums, Recurrent hand fla... ORPHA:3008
Ring Chromosome 21 Syndrome
Cutaneous photosensitivity, Decreased circulating antibody level ORPHA:1445
Renal Hypoplasia, Bilateral
Lethargy, Oligohydramnios, Anemia, Edema ORPHA:97362
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy ORPHA:42
Citrullinemia Type I
Lethargy ORPHA:247525
Chiari Malformation Type Ii
Cyanosis, Dysphagia OMIM:207950
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... OMIM:615952
Pearson Syndrome
Reticulocytosis, Pancytopenia, Thrombocytopenia, Splenomegaly, Hydrops fetalis, Dehydration, Dysp... ORPHA:699
Encephalitis Lethargica
Lethargy, Increased circulating antibody level ORPHA:83600
Bare Lymphocyte Syndrome, Type Ii
Agammaglobulinemia, Cutaneous anergy, Panhypogammaglobulinemia, Neutropenia OMIM:209920
Isolated Atp Synthase Deficiency
Lethargy ORPHA:254913
Pyruvate Dehydrogenase Deficiency
Lethargy ORPHA:765
Generalized Pseudohypoaldosteronism Type 1
Dehydration ORPHA:171876
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Reticulocytosis, Leukocytosis, Schistocytosis, Dehydration, Microangiopathic hemolytic anemia, Dy... ORPHA:90038
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Death in infancy, Polyhydramnios, Jaundice, Lethargy, Ascites OMIM:617156
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Lethargy, Death in infancy OMIM:201475
Congenital Fibrinogen Deficiency
Splenic rupture, Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage ORPHA:335
Dend Syndrome
Elevated hemoglobin A1c, Dehydration ORPHA:79134
Laryngotracheal Angioma
Cyanosis ORPHA:137935
Poems Syndrome
Edema, Pericardial effusion, Ascites, Increased circulating antibody level, Thrombocytosis, Pleur... ORPHA:2905
Resistance To Thyrotropin-Releasing Hormone Syndrome
Lethargy, Depression, Prolonged neonatal jaundice ORPHA:99832
Vipoma
Anorexia, Erythema, Dehydration, Intermittent jaundice, Normochromic anemia, Ascites, Subcutaneou... ORPHA:97282
Angiostrongyliasis
Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ... ORPHA:74
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Lethargy, Agitation ORPHA:263455
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Dehydration OMIM:615453
Benign Familial Neonatal Epilepsy
Circumoral cyanosis ORPHA:1949
Spondyloepimetaphyseal Dysplasia, Krakow Type
Decreased circulating total IgM, Bruising susceptibility OMIM:618162
Carnitine Palmitoyl Transferase 1A Deficiency
Lethargy ORPHA:156
Carnitine-Acylcarnitine Translocase Deficiency
Lethargy, Cyanosis ORPHA:159
Choanal Atresia
Cyanosis, Choking episodes ORPHA:137914
Hypoadrenocorticism, Familial
Cyanosis OMIM:240200
Pulmonary Capillary Hemangiomatosis
Cyanosis, Pericardial effusion, Pedal edema, Hypoxemia, Pleural effusion, Pulmonary edema ORPHA:199241
Isolated Thyroid-Stimulating Hormone Deficiency
Facial edema, Depression, Attention deficit hyperactivity disorder, Prolonged neonatal jaundice, ... ORPHA:90674
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cyanotic episode ORPHA:284417
Adrenal Hypoplasia, Congenital
Dehydration OMIM:300200
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Pancytopenia, Megaloblastic anemia, Anemia, Neutropenia, Lethargy, Thrombocytopenia OMIM:277380
Methemoglobinemia And Ambiguous Genitalia
Cyanosis, Methemoglobinemia OMIM:250790
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Microcytic anemia, Hepatosplenomegaly, Decreased circulating antibody level OMIM:619750
Hyperoxaluria, Primary, Type I
Acrocyanosis, Cutis marmorata, Dehydration OMIM:259900
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis ORPHA:98913
Symptomatic Form Of Hfe-Related Hemochromatosis
Splenomegaly, Lethargy, Apathy, Joint swelling ORPHA:465508
Hypothyroidism Due To Tsh Receptor Mutations
Lethargy, Edema, Prolonged neonatal jaundice ORPHA:90673
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal death, Death in infancy, Cyanosis OMIM:265120
Sim1-Related Prader-Willi-Like Syndrome
Xerostomia, Skin-picking, Abnormal temper tantrums, Lethargy, Polyphagia ORPHA:398079
Microvillus Inclusion Disease
Dehydration ORPHA:2290
Neuroleptic Malignant Syndrome
Leukocytosis, Dehydration, Agitation, Dysphagia, Thrombocytosis, Thrombocytopenia ORPHA:94093
Glucose-Galactose Malabsorption
Dehydration ORPHA:35710
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Lethargy ORPHA:2089
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Lethargy, Dysphagia OMIM:607483
Magel2-Related Prader-Willi-Like Syndrome
Impulsivity, Xerostomia, Abnormal temper tantrums, Compulsive behaviors, Skin-picking, Lethargy, ... ORPHA:398069
Pulmonary Alveolar Proteinosis, Acquired
Hypoxemia, Brain abscess, Cyanosis, Lung abscess OMIM:610910
Pgm3-Cdg
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Increased circulatin... ORPHA:443811
Aicardi-Goutieres Syndrome 1
Thrombocytopenia, Splenomegaly, Erythema, Prolonged neonatal jaundice, Acrocyanosis, Self-mutilat... OMIM:225750
Pulmonary Arteriovenous Malformation
Brain abscess, Cyanosis, Liver abscess, Telangiectasia, Hypoxemia, Iron deficiency anemia, Pleura... ORPHA:2038
Congenital Myasthenic Syndrome
Cyanosis, Choking episodes, Polyhydramnios, Dysphagia ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Cyanosis, Choking episodes, Polyhydramnios, Dysphagia ORPHA:98914
Rift Valley Fever
Miscarriage, Anorexia, Jaundice, Macular edema, Anemia, Increased circulating IgG level, Increase... ORPHA:319251
Isolated Right Ventricular Hypoplasia
Hypoxemia, Cyanosis, Pedal edema ORPHA:439
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Hypersplenism, Jaundice, Vacuolated lymphocytes, Dehydration, Hepatosplen... ORPHA:275761
Congenital Tufting Enteropathy
Dehydration ORPHA:92050
Diarrhea 1, Secretory Chloride, Congenital
Polyhydramnios, Dehydration OMIM:214700
Nephrogenic Diabetes Insipidus
Hypernatremic dehydration, Polydipsia, Polyhydramnios, Anorexia ORPHA:223
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Lethargy, Increased mean corpuscular volume, Megaloblastic anemia OMIM:277410
Carnitine Palmitoyltransferase I Deficiency
Lethargy OMIM:255120
Mitochondrial Trifunctional Protein Deficiency 1
Lethargy, Hydrops fetalis OMIM:609015
Scrub Typhus
Splenomegaly, Lethargy ORPHA:83317
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Decreased circulating total IgM, Decreased circulating IgA level ORPHA:369837
Mitochondrial Phosphate Carrier Deficiency
Cyanosis OMIM:610773
Oligomeganephronia
Polydipsia, Dehydration ORPHA:2260
Sting-Associated Vasculopathy, Infantile-Onset
Cutis marmorata, Increased circulating IgA level, Erythema, Livedo reticularis, Telangiectasia, I... OMIM:615934
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Lethargy, Death in infancy, Oligohydramnios OMIM:608836
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pericardial effusion, Lethargy, Jaundice ORPHA:26793
Ataxia-Telangiectasia
Decreased circulating IgG level, Decreased circulating IgG2 level, Acute lymphoblastic leukemia, ... OMIM:208900
Simple Cryoglobulinemia
Purpura, Monoclonal elevation of circulating IgA, Monoclonal immunoglobulin M proteinemia, Parapr... ORPHA:91139
Autoimmune Hepatitis
Spider hemangioma, Splenomegaly, Jaundice, Depression, Increased circulating IgG level, Increased... ORPHA:2137
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis, Dysphagia, Aggressive behavior ORPHA:488627
Dopamine Beta-Hydroxylase Deficiency
Anemia, Dehydration ORPHA:230
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Macrocytic anemia, Eosinophilia, Anorexia, Lethargy ORPHA:199299
Lysinuric Protein Intolerance
Thrombocytopenia, Decreased circulating antibody level, Hepatosplenomegaly, Abnormality of humora... ORPHA:470
Schimke Immunoosseous Dysplasia
Pancytopenia, Abnormal immunoglobulin level, Thrombocytopenia, Abnormal T cell morphology, Decrea... OMIM:242900
Immunodeficiency 59 And Hypoglycemia
Prolonged neonatal jaundice, Complete or near-complete absence of specific antibody response to u... OMIM:233600
Oculocerebrorenal Syndrome Of Lowe
Death in infancy, Thrombocytopenia, Dehydration, Depression, Joint swelling, Self-injurious behav... ORPHA:534
Immunodeficiency 58
Recurrent cutaneous abscess formation, Dysphagia, Decreased circulating antibody level, Cold urti... OMIM:618131
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Agammaglobulinemia, Anemia, Neutropenia, Thrombocytopenia ORPHA:47
Good Syndrome
Abnormal leukocyte morphology, Decreased circulating antibody level, Anemia, Dysphagia, Thrombocy... ORPHA:169105
Rasmussen Subacute Encephalitis
Hyperactivity, Decreased circulating total IgA, Attention deficit hyperactivity disorder ORPHA:1929
Chronic Pneumonitis Of Infancy
Hypoxemia, Cyanosis ORPHA:91359
Macrocephaly/Autism Syndrome
Splenomegaly, Lymphopenia, Decreased circulating antibody level OMIM:605309
Thymoma
Aplastic anemia, Pure red cell aplasia, Abnormal lymphocyte physiology, Abnormal lymphocyte proli... ORPHA:99867
Autosomal Dominant Progressive External Ophthalmoplegia
Bipolar affective disorder, Edema, Depression, Bradykinesia, Dysphagia, Lethargy ORPHA:254892
Congenital Disorder Of Glycosylation, Type Iil
Death in infancy, Pancytopenia, Impaired T cell function, Splenomegaly, Decreased specific anti-p... OMIM:614576
Restrictive Dermopathy 2
Cyanosis OMIM:619793
Methylmalonic Acidemia With Homocystinuria Type Cblf
Lethargy, Neutropenia, Megaloblastic anemia ORPHA:79284
Peroxisome Biogenesis Disorder 5A (Zellweger)
Death in infancy, Palpebral edema, Splenomegaly, Jaundice, Hepatosplenomegaly, Death in adolescen... OMIM:614866
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereosinophilia, In... OMIM:617388
Diarrhea 10, Protein-Losing Enteropathy Type
Death in infancy, Polyhydramnios, Pericardial effusion, Decreased circulating antibody level, Ana... OMIM:618183
Ogden Syndrome
Lethargy ORPHA:276432
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Lethargy OMIM:210200
Alg12-Cdg
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn... ORPHA:79324
Colchicine Poisoning
Leukocytosis, Dehydration ORPHA:31824
Wolfram Syndrome 2
Impaired collagen-induced platelet aggregation, Depression, Decreased circulating antibody level OMIM:604928
Acquired Purpura Fulminans
Acrocyanosis, Thrombocytopenia, Macular purpura ORPHA:49566
Diamond-Blackfan Anemia
Acute myeloid leukemia, Thrombocytosis, Nonimmune hydrops fetalis, Pure red cell aplasia, Erythro... ORPHA:124
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Holocarboxylase Synthetase Deficiency
Lethargy, Thrombocytopenia OMIM:253270
Congenital Disorder Of Glycosylation, Type Iib
Generalized edema, Decreased circulating IgA level, Decreased circulating antibody level OMIM:606056
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Death in infancy, Lymphopenia, Eosinophilia, Decreased circulating antibody level OMIM:617425
Primary Pulmonary Hypoplasia
Hypoxemia, Cyanosis ORPHA:2257
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Lethargy, Leukocytosis, Pleural effusion OMIM:620233
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow hypocellularity, ... ORPHA:508542
Mitochondrial Complex I Deficiency, Nuclear Type 1
Death in infancy, Cyanosis, Splenomegaly, Lethargy, Cerebral edema OMIM:252010
Aromatic L-Amino Acid Decarboxylase Deficiency
Lethargy, Tongue thrusting OMIM:608643
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Dehydration ORPHA:90791
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis OMIM:614407
Liver Failure, Infantile, Transient
Death in infancy, Jaundice, Decreased circulating IgG level OMIM:613070
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis ORPHA:444013
Mohr-Tranebjaerg Syndrome
Agammaglobulinemia, Attention deficit hyperactivity disorder, Dysphagia ORPHA:52368
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Anemia ORPHA:935
Distal Renal Tubular Acidosis
Hemolytic anemia, Polydipsia, Dehydration ORPHA:18
Fructose-1,6-Bisphosphatase Deficiency
Lethargy OMIM:229700
Carnitine-Acylcarnitine Translocase Deficiency
Lethargy OMIM:212138
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Decreased circulating total IgM, Severe B lymphocytopenia, B lymphocytopenia ORPHA:83617
Infantile Nephropathic Cystinosis
Polydipsia, Dehydration ORPHA:411629
Microsporidiosis
Brain abscess, Anorexia, Abnormality of the spleen, Dehydration, Decreased proportion of CD4-posi... ORPHA:2552
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Pancytopenia, Cutis marmorata, Splenomegaly, Leukocytosis, Decreased circulating antibody level, ... OMIM:615688
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis, Pericardial effusion, Anasarca, Peripheral edema, Pleural effusion, Ascites, Pulmonary ... OMIM:261740
Surfactant Metabolism Dysfunction, Pulmonary, 3
Hypoxemia, Death in infancy, Cyanosis, Neonatal death OMIM:610921
Okur-Chung Neurodevelopmental Syndrome
Polyhydramnios, Decreased circulating antibody level, Frequent temper tantrums, Attention deficit... OMIM:617062
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis ORPHA:3304
Brucellosis
Liver abscess, Lung abscess, Miscarriage, Anorexia, Hypersplenism, Thrombocytopenia, Leukocytosis... ORPHA:1304
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Hydrops fetalis, Decreased circulatin... ORPHA:79329
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Cyanosis ORPHA:860
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Abnormal lymphocyte morphology, Decreased circulating antibody level, Severe B lymphocytopenia, A... ORPHA:293978
Smith-Kingsmore Syndrome
Thrombocytopenia, Decreased circulating IgA level OMIM:616638
Mucopolysaccharidosis-Plus Syndrome
Thrombocytopenia, Splenomegaly, Death in childhood, Increased circulating IgM level, Leukopenia, ... OMIM:617303
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Cyanosis, Generalized edema OMIM:617478
Congenital Disorder Of Glycosylation, Type Ia
Death in infancy, Nonimmune hydrops fetalis, Edema, Pericardial effusion, Abnormal subcutaneous f... OMIM:212065
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Lethargy, Jaundice OMIM:615751
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Reticulocytosis, Pancytopenia, Abnormal erythrocyte enzyme level, Thrombocytope... ORPHA:447
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Lethargy, Neutropenia, Thrombocytopenia, Megaloblastic anemia OMIM:277400
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis OMIM:261680
Posterior Urethral Valve
Lethargy, Oligohydramnios ORPHA:93110
Eosinophilic Granulomatosis With Polyangiitis
Cutis marmorata, Eosinophilia, Urticaria, Dysphagia, Acrocyanosis, Purpura ORPHA:183
Tick-Borne Encephalitis
Anorexia, Leukocytosis, Depression, Increased circulating IgG level, Increased circulating IgM le... ORPHA:297
Ethylene Glycol Poisoning
Cyanosis, Addictive alcohol use, Cerebral edema, Pulmonary edema ORPHA:31826
Vici Syndrome
Decreased circulating IgG2 level, Decreased circulating IgG level, Death in infancy ORPHA:1493
Complete Atrioventricular Septal Defect
Lethargy, Cyanosis ORPHA:1329
Citrullinemia, Classic
Lethargy, Cerebral edema OMIM:215700
Myasthenia Gravis
Hemolytic anemia, Acrocyanosis, Pure red cell aplasia, Dysphagia ORPHA:589
Meckel Syndrome 14
Increased nuchal translucency, Cyanosis, Oligohydramnios OMIM:619879
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Perianal abscess, Leukocytosis, Increased circulating IgE level, Increased circulating IgG level,... OMIM:618213
Common Variable Immunodeficiency
Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Decreased circulating antibody level... ORPHA:1572
Histiocytoid Cardiomyopathy
Lethargy, Cyanosis, Pulmonary edema ORPHA:137675
Multiple Myeloma
Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, Increased ci... ORPHA:29073
Immunodeficiency 56
Panhypogammaglobulinemia OMIM:615207
Amoebiasis Due To Free-Living Amoebae
Restlessness, Granuloma, Lethargy, Increased red blood cell count, Cerebral edema ORPHA:68
Tetrasomy 5P
Cyanosis ORPHA:3309
Bartter Syndrome, Type 3
Dehydration OMIM:607364
Cystinosis, Nephropathic
Oral-pharyngeal dysphagia, Splenomegaly, Dehydration, Dysphagia, Polydipsia OMIM:219800
Biotinidase Deficiency
Splenomegaly, Lethargy OMIM:253260
Juvenile Nephropathic Cystinosis
Polydipsia, Dehydration ORPHA:411634
Eisenmenger Syndrome
Brain abscess, Cyanosis, Hypochromic microcytic anemia, Pedal edema, Hypoxemia, Iron deficiency a... ORPHA:97214
Congenital Tricuspid Valve Dysplasia
Hypoxemia, Pericardial effusion, Cyanosis ORPHA:555874
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Panhypogammaglobulinemia, Absent circulating B cells OMIM:307200
Mitochondrial Trifunctional Protein Deficiency
Lethargy ORPHA:746
Bartter Syndrome, Type 2, Antenatal
Polydipsia, Impaired platelet aggregation, Polyhydramnios, Dehydration OMIM:241200
Primary Sjögren Syndrome
Normocytic anemia, Cutis marmorata, Decreased proportion of CD4-positive helper T cells, Xerostom... ORPHA:289390
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Lethargy, Cerebral edema OMIM:311250
Hereditary Fructose Intolerance
Lethargy, Jaundice ORPHA:469
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Lethargy ORPHA:71212
Multiple Endocrine Neoplasia Type 1
Anorexia, Lethargy, Dehydration, Depression ORPHA:652
Neurodegeneration And Seizures Due To Copper Transport Defect
Lethargy OMIM:620306
Waardenburg Syndrome Type 3
Acrocyanosis ORPHA:896
Igg4-Related Submandibular Gland Disease
Eosinophilia, Increased circulating IgG4 level, Facial edema, Periorbital edema, Increased circul... ORPHA:449432
Severe Generalized Junctional Epidermolysis Bullosa
Dehydration, Fragile skin, Anemia, Edema ORPHA:79404
Primary Biliary Cholangitis
Increased circulating IgA level, Jaundice, Increased circulating IgM level, Dermatographic urtica... ORPHA:186
Postinfectious Vasculitis
Palpable purpura, Cutis marmorata, Anorexia, Increased circulating IgA level, Abnormality of humo... ORPHA:48435
Argininosuccinic Aciduria
Lethargy, Cerebral edema OMIM:207900
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Lethargy OMIM:210210
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis ORPHA:1867
Autoimmune Pulmonary Alveolar Proteinosis
Hypoxemia, Cyanosis ORPHA:747
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Hyperactivity, Decreased circulating IgA level ORPHA:457485
Double Outlet Right Ventricle
Cyanosis ORPHA:3426
Esophageal Atresia
Oral aversion, Cyanosis, Polyhydramnios, Dysphagia ORPHA:1199
Vici Syndrome
Decreased circulating IgG level, Lymphopenia, Decreased T cell activation, Dysphagia, Leukopenia,... OMIM:242840
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hypersplenism, Splenomegaly, Pancytopenia, Decreased circulating IgA level OMIM:613385
Familial Hypoaldosteronism
Lethargy ORPHA:427
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Dehydration ORPHA:168558
Cowden Syndrome 1
Lymphopenia, Subcutaneous lipoma, Decreased circulating antibody level OMIM:158350
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Dehydration ORPHA:289548
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Lethargy OMIM:201470
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Lethargy ORPHA:395
Japanese Encephalitis
Neutrophilia, Anorexia, Increased circulating IgM level, Increased circulating antibody level, Ce... ORPHA:79139
Paternal Uniparental Disomy Of Chromosome 6
Dehydration, Oligohydramnios ORPHA:96191
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Cyanosis, Aggressive behavior, Depression, Self-injurious behavior, Compulsive behaviors, Polydip... ORPHA:293987
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Depression, Iron deficiency anemia, Thrombocytosis, Decreased circulating IgA ... OMIM:212750
Nijmegen Breakage Syndrome
Conjunctival telangiectasia, Autoimmune hemolytic anemia, Hyperactivity, Dysgammaglobulinemia, T ... OMIM:251260
Mannosidosis, Alpha B, Lysosomal
Splenomegaly, Vacuolated lymphocytes, Decreased circulating antibody level OMIM:248500
Kufor-Rakeb Syndrome
Bradykinesia, Lethargy, Apathy, Dysphagia ORPHA:306674
Primary Sclerosing Cholangitis
Abnormal eosinophil morphology, Spider hemangioma, Splenomegaly, Jaundice, Dilated superficial ab... ORPHA:171
Hennekam Syndrome
Lymphedema, Pericardial effusion, Splenomegaly, Hydrops fetalis, Decreased circulating antibody l... ORPHA:2136
Medulloblastoma
Lethargy ORPHA:616
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis ORPHA:2326
Proximal Renal Tubular Acidosis
Polydipsia, Dehydration ORPHA:47159
Criss-Cross Heart
Cyanosis ORPHA:1461
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... ORPHA:391487
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Neutrophilia, Anorexia, Pericardial effusion, Splenomegaly, Jaundice, Leukocytosis,... ORPHA:99827
Isolated Permanent Neonatal Diabetes Mellitus
Dehydration ORPHA:99885
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Facial edema, Lethargy, Prolonged neonatal jaundice ORPHA:226307
Trichothiodystrophy 1, Photosensitive
Death in infancy, Cutaneous photosensitivity, Decreased circulating IgG level, Telangiectasia OMIM:601675
Isolated Complex I Deficiency
Lethargy ORPHA:2609
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Miscarriage, Dehydration, Hypocapnia ORPHA:90794
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Autoimmune thrombocytopenia, Xerostomia, Decreased circulating antibody level,... ORPHA:227990
Biotinidase Deficiency
Lethargy ORPHA:79241
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean... OMIM:618278
Whim Syndrome
Lymphopenia, Neutropenia, Abnormal neutrophil morphology, Decreased circulating antibody level ORPHA:51636
Say-Barber-Miller Syndrome
Transient hypogammaglobulinemia of infancy, Abnormal T cell morphology, Decreased circulating ant... ORPHA:3132
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Erythema, Decreased circulating antibody level, Generalized abnormality of skin, Fragile skin, An... ORPHA:79396
Fucosidosis
Acrocyanosis, Vascular skin abnormality ORPHA:349
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Autoimmune thrombocytopenia, Xerostomia, Decreased circulating antibody level,... ORPHA:227982
Semilobar Holoprosencephaly
Depression, Apathy, Attention deficit hyperactivity disorder, Dysphagia, Lethargy ORPHA:220386
Alobar Holoprosencephaly
Depression, Apathy, Attention deficit hyperactivity disorder, Dysphagia, Lethargy ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Depression, Apathy, Attention deficit hyperactivity disorder, Dysphagia, Lethargy ORPHA:93926
Lobar Holoprosencephaly
Depression, Apathy, Attention deficit hyperactivity disorder, Dysphagia, Lethargy ORPHA:93924
Bartter Syndrome Type 4
Polyhydramnios, Dehydration ORPHA:89938
Tarp Syndrome
Extramedullary hematopoiesis, Cyanosis ORPHA:2886
Atrial Septal Defect, Ostium Primum Type
Peripheral edema, Cyanosis ORPHA:99106
Trichohepatoenteric Syndrome 1
Increased mean platelet volume, Polyhydramnios, Splenomegaly, Jaundice, Decreased circulating ant... OMIM:222470
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Thrombocytopenia, Hepatosplenomegaly, Increased circulating IgM level, Leukopenia, Bone marrow hy... ORPHA:505248
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Death in infancy, Cyanosis, Death in childhood OMIM:618426
Pulmonary Alveolar Microlithiasis
Hypoxemia, Peripheral edema, Cyanosis, Oxygen desaturation on exertion ORPHA:60025
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Cyanosis OMIM:610913
Exercise-Induced Malignant Hyperthermia
Hypocapnia, Thrombocytopenia, Lethargy, Flushing ORPHA:466650
Bartter Syndrome, Type 1, Antenatal
Polyhydramnios, Dehydration OMIM:601678
Cystic Fibrosis
Dehydration, Hepatosplenomegaly OMIM:219700
Heterotaxy, Visceral, 7, Autosomal
Cyanosis, Polysplenia OMIM:616749
Lipodystrophy, Congenital Generalized, Type 4
Splenomegaly, Dysphagia, Decreased circulating IgA level OMIM:613327
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Brain abscess, Cyanosis, Telangiectasia of the skin, Nail bed telang... OMIM:187300
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Brain abscess, Cyanosis, Nail bed telangiectasia, Polycythemia, Fing... OMIM:600376
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Increased circulating IgG level, Granuloma, Increased circulating IgM level ORPHA:562639
Absence Of The Pulmonary Artery
Pulmonary edema, Cyanosis, Pedal edema, Hypocapnia ORPHA:980
Igg4-Related Dacryoadenitis And Sialadenitis
Palpebral edema, Increased circulating IgG4 level, Increased circulating IgA level, Facial edema,... ORPHA:79078
Thrombocytopenia-Absent Radius Syndrome
Death in infancy, Edema of the dorsum of feet, Eosinophilia, Edema of the dorsum of hands, Leukoc... OMIM:274000
Dermatomyositis
Abnormal eosinophil morphology, Telangiectasia of the skin, Edema, Periorbital edema, Erythema, A... ORPHA:221
Congenital Tracheal Stenosis
Cyanosis, Fetal ascites, Polyhydramnios, Oligohydramnios ORPHA:141127
Glycine Encephalopathy
Lethargy ORPHA:407
Cardiac Valvular Dysplasia 2
Central cyanosis OMIM:620067
Primary Fanconi Renotubular Syndrome
Dehydration ORPHA:3337
Trichothiodystrophy
Prematurely aged appearance, Increased mean corpuscular hemoglobin concentration, Neutropenia, Cu... ORPHA:33364
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Lethargy ORPHA:415
Distal Deletion 19P
Decreased circulating antibody level ORPHA:96129
Atrial Septal Defect, Ostium Secundum Type
Cyanosis, Pedal edema ORPHA:99103
Fructose Intolerance, Hereditary
Lethargy, Jaundice OMIM:229600
Heterotaxy, Visceral, 1, X-Linked
Asplenia, Polyhydramnios, Cyanosis, Polysplenia OMIM:306955
Unilateral Polymicrogyria
Pseudobulbar paralysis, Cyanosis ORPHA:268943
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
T lymphocytopenia, Abnormal B cell morphology, Aplasia of the thymus OMIM:618223
Coccidioidomycosis
Abscess, Eosinophilia, Abnormality of the spleen, Increased circulating IgG level, Increased circ... ORPHA:228123
Pitt-Hopkins Syndrome
Self-injurious behavior, Acrocyanosis, Aggressive behavior ORPHA:2896
Dubowitz Syndrome
Acute lymphoblastic leukemia, Decreased circulating IgG level, Aplastic anemia, Decreased circula... OMIM:223370
Hydranencephaly
Lethargy ORPHA:2177
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis OMIM:617239
Syndromic Diarrhea
Increased mean platelet volume, Splenomegaly, Hypoplasia of the thymus, Thrombocytosis, Lymphopen... ORPHA:84064
Cardiac Valvular Dysplasia 1
Cyanosis, Hydrops fetalis, Edema OMIM:212093
Glycerol Kinase Deficiency
Lethargy OMIM:307030
Aicardi-Goutières Syndrome
Cutis marmorata, Neonatal alloimmune thrombocytopenia, Hepatosplenomegaly, Increased circulating ... ORPHA:51
Cartilage-Hair Hypoplasia
Neutropenia, Anemia, Decreased circulating antibody level ORPHA:175
Atrial Septal Defect, Coronary Sinus Type
Cyanosis ORPHA:99104
Leukocyte Adhesion Deficiency Type Ii
Neutrophilia, Palpebral edema, Abnormal isohemagglutinin level, Microcytic anemia, Leukocytosis, ... ORPHA:99843
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Acrocyanosis OMIM:223900
Hypothyroidism, Congenital, Nongoitrous, 2
Lethargy OMIM:218700
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Cyanosis, Lip telangiectasia, Tongue telangiectasia, Nasal mucosa te... OMIM:610655
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hepatosplenomegaly, Jaundice, Anemia, Decreased circulating antibody level ORPHA:247598
Monosomy 18Q
Decreased circulating IgA level ORPHA:1600
Pineoblastoma
Lethargy ORPHA:251909
Aortic Arch Interruption
Cyanosis, Pedal edema ORPHA:2299
Congenital Tracheomalacia
Cyanosis ORPHA:95430
Familial Dysautonomia
Acrocyanosis ORPHA:1764
Double Outlet Left Ventricle
Cyanosis ORPHA:3427
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level, Neutropenia OMIM:271510
Generalized Arterial Calcification Of Infancy
Cyanosis, Polyhydramnios, Edema, Pericardial effusion, Hydrops fetalis, Ascites ORPHA:51608
Hutchinson-Gilford Progeria Syndrome
Premature skin wrinkling, Prominent superficial blood vessels, Generalized abnormality of skin, C... ORPHA:740
Classical Ehlers-Danlos Syndrome
Prematurely aged appearance, Poor wound healing, Joint swelling, Blepharochalasis, Ecchymosis, Ac... ORPHA:287
Yellow Fever
Increased circulating interleukin 6 concentration, Neutrophilia, Leukocytosis, Jaundice, Increase... ORPHA:99829
Truncus Arteriosus
Cyanosis, Hypoplasia of the thymus, Pulmonary edema ORPHA:3384
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Cyanosis ORPHA:99050
Primary Hyperoxaluria
Acrocyanosis, Cutis marmorata ORPHA:416
Goodpasture Syndrome
Cyanosis, Anemia OMIM:233450
Congenitally Corrected Transposition Of The Great Arteries
Cyanosis ORPHA:216694
Viss Syndrome
Prominent superficial blood vessels, Polyhydramnios, Increased circulating IgE level, Hypereosino... OMIM:619472
Coffin-Lowry Syndrome
Acrocyanosis, Cutis marmorata OMIM:303600
Hypermobile Ehlers-Danlos Syndrome
Acrocyanosis, Depression ORPHA:285
Sponastrime Dysplasia
Neutropenia, Decreased circulating antibody level ORPHA:93357
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Decreased circulating IgG level, Secretory IgA deficiency, Dysphagia ORPHA:500150
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Asplenia, Dysphagia, Decreased circulating antibody level, Bruxism, Abnormal repetitive mannerisms ORPHA:261537
Mowat-Wilson Syndrome
Asplenia, Dysphagia, Decreased circulating antibody level, Bruxism, Abnormal repetitive mannerisms ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Asplenia, Dysphagia, Decreased circulating antibody level, Bruxism, Abnormal repetitive mannerisms ORPHA:261552
Congenital Total Pulmonary Venous Return Anomaly
Cyanosis ORPHA:99125

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Pou2f2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Pou2f2.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Pou2f1 and Pou2f2 cooperate to control the timing of cone photoreceptor production in the developing mouse retina. Development (Cambridge, England) (September 2020) Pou2f2tm1c(EUCOMM)Hmgu 32878923
Regulation of normal B-cell differentiation and malignant B-cell survival by OCT2. Proceedings of the National Academy of Sciences of the United States of America (March 2016) Pou2f2tm1c(EUCOMM)Hmgu Pou2f2tm1a(EUCOMM)Hmgu PMC4833274

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Pou2f2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Pou2f2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

The IMPC Newsletter

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

Subscribe to newsletter