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Gene: Pou2f2 MGI:101897

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

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
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 specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, Abnormally low T cell receptor ... OMIM:618987
Immunodeficiency 24
Partial absence of specific antibody response to tetanus vaccine, Defective T cell proliferation,... OMIM:615897
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Lymphocytosis, Splenomegaly OMIM:606445
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Chronic decreased circulating total IgG, R... OMIM:613493
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Defective B cell differentiation, Decrease... OMIM:617765
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
Transcobalamin Deficiency
Decreased circulating antibody level, Lymphopenia, Neutropenia, Thrombocytopenia, Pancytopenia, D... ORPHA:859
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytohemagglutin... OMIM:153600
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia OMIM:616941
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased proportion of class-switched memory B cells, Cutaneous abscess, Increased circulating I... OMIM:618944
Immunodeficiency With Hyper-Igm, Type 3
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, Ne... OMIM:606843
Immunodeficiency 11
Decreased circulating antibody level OMIM:615206
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:615214
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Neutropenia OMIM:300988
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Decreased circulating antibody level, Agammaglobulinemia OMIM:616911
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia, Agammaglobulinemia OMIM:200900
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, Thrombocytosis, Leukocytosis, Decreased circulating total IgM, B lymphocytopenia, De... OMIM:619281
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Severe Combined Immunodeficiency, X-Linked
T lymphocytopenia, Decreased circulating IgE, Impaired lymphocyte transformation with phytohemagg... OMIM:300400
Immunodeficiency 70
Decreased circulating antibody level, Decreased proportion of CD4-positive helper T cells, Decrea... 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
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Neutropenia in presence of anti-neutropil ... OMIM:607594
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased circulating I... OMIM:615513
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... OMIM:611926
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Immunodeficiency 60
Decreased proportion of memory B cells, Decreased circulating IgE, Decreased basophil count, Panc... OMIM:618394
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... OMIM:608106
Immunodeficiency, Common Variable, 13
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level OMIM:235900
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia OMIM:615592
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Agammaglobulinemia 2, Autosomal Recessive
Agammaglobulinemia OMIM:613500
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Cernunnos-Xlf Deficiency
T lymphocytopenia, Decreased circulating antibody level, Lymphopenia, Thrombocytopenia, B lymphoc... ORPHA:169079
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG OMIM:613495
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 CD4-positive helper T cells, Decreased circulating IgG level, Decreased p... OMIM:312863
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death, Neutropenia, Eosinophilia OMIM:257100
Immunodeficiency, Common Variable, 7
Reduced isohemagglutinin level, Decreased circulating total IgG, Decreased circulating IgA level,... OMIM:614699
Isovaleric Acidemia
Coma, Lethargy, Thrombocytopenia, Pancytopenia, Dehydration, Leukopenia, Bone marrow hypocellularity OMIM:243500
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Decreased circulating antibody level, Decreased proportion of CD3-po... ORPHA:331206
Lymphoproliferative Syndrome 3
Partial absence of specific antibody response to tetanus vaccine, Reduced natural killer cell cou... OMIM:618261
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:613501
Chronic Hiccup
Abnormal eating behavior, Dehydration ORPHA:396
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
Ataxia, Unsteady gait, Decreased circulating IgA level, Decreased circulating total IgM, Decrease... OMIM:300861
Gilbert Syndrome
Jaundice, Dehydration OMIM:143500
Vitamin B12-Responsive Methylmalonic Acidemia
Coma, Dehydration, Lethargy, Anemia ORPHA:28
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgG level, Increased circulating IgA level OMIM:144120
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating antibody level OMIM:617744
Spastic Ataxia-Corneal Dystrophy Syndrome
Spastic ataxia, Decreased circulating antibody level, Gait disturbance, Ataxia ORPHA:2572
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig... OMIM:605258
Methemoglobinemia, Beta Type
Methemoglobinemia, Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia, Cyanosis OMIM:617973
Immunodeficiency 25
T lymphocytopenia, Increased circulating IgM level, Increased circulating IgE level, Autoimmune h... OMIM:610163
Immunodeficiency 48
Panhypogammaglobulinemia, Splenomegaly OMIM:269840
Breath-Holding Spells
Iron deficiency anemia, Cyanosis, Loss of consciousness OMIM:607578
Transcobalamin Ii Deficiency
Lethargy, Neutropenia, Ataxia, Reticulocytopenia, Pancytopenia, Decreased circulating IgA level, ... OMIM:275350
Immune Deficiency Disease
Decreased circulating total IgM OMIM:242850
Lymphangiectasia, Intestinal
Stillbirth, Lymphopenia, Pedal edema, Edema, Decreased circulating IgG level OMIM:152800
Reticular Dysgenesis
Abnormality of neutrophils, Decreased circulating antibody level, Dehydration, Anemia, Leukopenia ORPHA:33355
Autoimmune Lymphoproliferative Syndrome, Type V
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased circulating antibody level, L... OMIM:616100
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia OMIM:251190
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased circulating IgM level, Increased proportion autoreactive unresp... OMIM:618534
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Lethargy, Death in childhood, Ataxia, Bradykinesia OMIM:618683
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Increased circulating IgE level, Autoimmune thro... OMIM:102700
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia... OMIM:615285
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, Death in childhood, B lymphocytopenia, Splenomegaly OMIM:619164
Developmental And Epileptic Encephalopathy 92
Inability to walk, Dystonia, Lethargy, Difficulty walking, Ataxia OMIM:617829
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Central Diabetes Insipidus
Excessive daytime somnolence, Dehydration, Lethargy, Polydipsia ORPHA:178029
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Decreased circulating antibody lev... OMIM:617514
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
Diarrhea 2, With Microvillus Atrophy
Dehydration, Death in infancy OMIM:251850
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
T lymphocytopenia, Absent natural killer cells, Partial IgA deficiency, Lymphopenia, Impaired lym... ORPHA:35078
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp... OMIM:617006
Classic Glucose Transporter Type 1 Deficiency Syndrome
Dystonia, Lethargy, Abnormal erythrocyte morphology, Ataxia, Confusion, Cyanosis ORPHA:71277
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Agammaglobulinemia 4, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:613502
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Confusion, Lethargy OMIM:617900
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Lethargy, Ataxia, Confusion, Paroxysmal lethargy OMIM:606777
Vitamin B12-Unresponsive Methylmalonic Acidemia
Coma, Lethargy, Ataxia, Thrombocytopenia, Dehydration, Leukopenia, Anemia, Macrocytic anemia ORPHA:27
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgM level, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutro... OMIM:619220
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Coma, Dystonia, Lethargy, Neutropenia, Thrombocytopenia, Dehydration, Anemia, Splenomegaly ORPHA:79312
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Increased circ... OMIM:202700
Immunodeficiency 72 With Autoinflammation
Increased circulating IgE level, Increased circulating IgG level, Increased B cell count, Increas... OMIM:618982
Immunodeficiency 57 With Autoinflammation
Partial absence of specific antibody response to tetanus vaccine, T lymphocytopenia, Decreased ci... OMIM:618108
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Decreased circulating IgG level, Increased... OMIM:615767
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Cutaneous abscess, Decreased proportion of C... OMIM:618204
Ataxia-Pancytopenia Syndrome
Abnormality of neutrophils, Decreased circulating antibody level, Gait disturbance, Abnormal macr... ORPHA:2585
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Glycine Encephalopathy
Lethargy, Death in infancy, Hyperactivity OMIM:605899
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Increased circulating IgE level, Abnormality of humoral immunity, Lymphopenia,... ORPHA:277
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Cyanosis, Transient Neonatal
Reticulocytosis, Jaundice, Anemia, Methemoglobinemia, Cyanosis OMIM:613977
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Gait disturbance, Lethargy ORPHA:79283
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:601859
Mitochondrial Complex I Deficiency, Nuclear Type 3
Dystonia, Lethargy, Ataxia OMIM:618224
Immunodeficiency 83, Susceptibility To Viral Infections
Confusion, Lethargy OMIM:613002
Whim Syndrome 1
Decreased circulating antibody level, Decreased circulating IgG level, Neutropenia OMIM:193670
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, B lymphocytopenia, Panhypogammaglobulinemia OMIM:601457
Bone Marrow Failure Syndrome 5
Decreased circulating antibody level, Pure red cell aplasia, Anemia OMIM:618165
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Hepatosplenomegaly, Anemia OMIM:273680
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased circulating IgA level OMIM:614878
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Increased circulating IgM level, Decreased circulating antibody ... OMIM:308240
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgM level, Increased circulating IgE level, Decreased proportion of CD8-pos... OMIM:617241
Gaba-Transaminase Deficiency
Lethargy, Death in childhood OMIM:613163
Diarrhea 4, Malabsorptive, Congenital
Dehydration OMIM:610370
Familial Cold Urticaria
Dehydration, Polydipsia, Urticaria, Erythema ORPHA:47045
Lactase Deficiency, Congenital
Dehydration OMIM:223000
Hypothyroidism, Congenital, Nongoitrous, 7
Lethargy OMIM:618573
Diabetes Mellitus, Transient Neonatal, 1
Dehydration OMIM:601410
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Autoimmune hemolytic anemia, Reduced natur... OMIM:619374
Early Myoclonic Encephalopathy
Dysphagia, Lethargy ORPHA:1935
Mu-Heavy Chain Disease
Abnormal B cell count, Increased circulating antibody level, Anemia, Splenomegaly ORPHA:100024
Homocystinuria Without Methylmalonic Aciduria
Lethargy, Ataxia ORPHA:622
Immunodeficiency 61
Agammaglobulinemia, Attention deficit hyperactivity disorder OMIM:300310
Immunodeficiency 46
Decreased circulating antibody level, Intermittent thrombocytopenia, Neutropenia, Anemia OMIM:616740
X-Linked Lymphoproliferative Disease
Lymphocytosis, Pancytopenia, Histiocytosis, Increased B cell count, Increased proportion of CD25+... ORPHA:2442
Inflammatory Skin And Bowel Disease, Neonatal, 2
Dehydration, Edema OMIM:616069
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Difficulty walking, Lethargy OMIM:613710
Combined Malonic And Methylmalonic Aciduria
Dehydration OMIM:614265
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Congenital Disorder Of Glycosylation, Type Iir
Jaundice, Decreased circulating antibody level, Ascites, Decreased proportion of CD4-positive T c... OMIM:301045
Cholesterol Pneumonia
Cyanosis, Death in infancy OMIM:215030
Methylmalonic Acidemia With Homocystinuria
Gait disturbance, Lethargy ORPHA:26
Evans Syndrome
Lethargy, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of an... ORPHA:1959
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Autoimmune he... OMIM:614700
Bone Marrow Failure Syndrome 4
Decreased circulating antibody level, Thrombocytopenia, Anemia, Leukopenia, Bone marrow hypocellu... OMIM:618116
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Increased circulating ... OMIM:614470
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Abnormal natural killer cell physiology, Decreased circulating antibody level, ... OMIM:613101
Immunodeficiency 47
Decreased circulating antibody level, Leukopenia, Splenomegaly OMIM:300972
Severe Canavan Disease
Inability to walk, Lethargy, Oral-pharyngeal dysphagia ORPHA:314911
Cyanosis And Hepatic Disease
Cyanosis OMIM:219400
Agammaglobulinemia 1, Autosomal Recessive
Decreased circulating antibody level, B lymphocytopenia, Neutropenia, Agammaglobulinemia OMIM:601495
Immunodeficiency 13
T lymphocytopenia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Decreased CD... OMIM:615518
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Coma, Lethargy, Thrombocytopenia, Dehydration, Leukopenia OMIM:251000
Wiskott-Aldrich Syndrome, Autosomal Dominant
Iron deficiency anemia, Decreased mean platelet volume, Hemolytic anemia, Increased circulating I... OMIM:600903
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... ORPHA:231154
Neurodegeneration, Infantile-Onset, Biotin-Responsive
Decreased circulating IgG level OMIM:618973
Autosomal Recessive Dopa-Responsive Dystonia
Lethargy, Gait ataxia, Ataxia, Bradykinesia, Oculogyric crisis, Generalized dystonia, Focal dysto... ORPHA:101150
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Dehydration OMIM:602199
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Hydrops fetalis, Abnormal proportion of CD4-positive T cells, Abnormal serum inter... ORPHA:3261
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Megaloblastic anemia, Decreased circulating antibody level, Lymphopenia, Pancytop... OMIM:617780
Adult Idiopathic Neutropenia
Monocytosis, Monocytopenia, Increased circulating IgM level, Lymphopenia, Neutropenia ORPHA:2688
Isobutyryl-Coa Dehydrogenase Deficiency
Dehydration ORPHA:79159
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, T l... OMIM:618986
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hyperactivity OMIM:274270
Combined Malonic And Methylmalonic Acidemia
Dehydration, Dystonia ORPHA:289504
Myeloma, Multiple
Paraproteinemia OMIM:254500
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Autoimmune thrombocytopenia, Decreased specific anti-polysaccharide antibody level, Decreased pro... OMIM:300853
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Anemia ORPHA:158014
Hereditary Central Diabetes Insipidus
Polydipsia, Lethargy ORPHA:30925
Hyperchlorhidrosis, Isolated
Hypernatremic dehydration, Dehydration OMIM:143860
Combined Oxidative Phosphorylation Deficiency 47
Dysphagia, Dehydration OMIM:618958
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Hyperinsulinism Due To Ucp2 Deficiency
Lethargy, Polyphagia, Hypoglycemic coma, Drowsiness, Loss of consciousness ORPHA:276556
Combined Oxidative Phosphorylation Deficiency 2
Lethargy, Edema OMIM:610498
Immunodeficiency, Common Variable, 10
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:615577
Cirrhosis, Familial
Jaundice, Lethargy OMIM:215600
Developmental And Epileptic Encephalopathy 41
Inability to walk, Lethargy OMIM:617105
Immunoneurologic Disorder, X-Linked
Neonatal death, Decreased circulating IgG2 level OMIM:300076
Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia
Decreased circulating antibody level OMIM:618042
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating antibody level OMIM:614069
Mitochondrial Complex I Deficiency, Nuclear Type 5
Dysphagia, Dystonia, Lethargy, Ataxia OMIM:618226
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Obesity-Hypoventilation Syndrome
Cyanosis, Excessive daytime somnolence OMIM:257500
Propionic Acidemia
Coma, Dystonia, Lethargy, Neutropenia, Pancytopenia, Thrombocytopenia, Dehydration, Anemia OMIM:606054
Methylmalonic Aciduria, Cblb Type
Coma, Lethargy, Neutropenia, Pancytopenia, Thrombocytopenia, Dehydration, Anemia OMIM:251110
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Increased circulating IgE level, Decreased proportion of CD8-po... ORPHA:169154
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Lethargy, Polyphagia, Hypoglycemic coma, Drowsiness, Loss of consciousness ORPHA:276575
Immunodeficiency With Hyper-Igm, Type 1
Impaired memory B cell generation, Increased circulating IgM level, Hemolytic anemia, Decreased c... OMIM:308230
Hypercalcemia, Infantile, 1
Dehydration, Lethargy OMIM:143880
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Palpebral edema, Decreased circulating total IgM, Decreased specific antibody response to vaccina... ORPHA:221139
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, T lymphocytopenia, Absent natural killer cells, Lymphopenia, Impaired lymphocyt... OMIM:600802
Lujo Hemorrhagic Fever
Coma, Lethargy ORPHA:319213
Acquired Methemoglobinemia
Coma, Hypoxemia, Confusion, Drowsiness, Methemoglobinemia, Cyanosis, Loss of consciousness ORPHA:464453
N-Acetylglutamate Synthase Deficiency
Confusion, Coma, Lethargy OMIM:237310
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Lethargy, Polyphagia, Hypoglycemic coma, Drowsiness, Loss of consciousness ORPHA:276580
Autosomal Agammaglobulinemia
Dehydration, Agammaglobulinemia, Neutropenia ORPHA:33110
Netherton Syndrome
Increased circulating IgE level, Decreased circulating IgG level, Hypereosinophilia, Hypernatremi... OMIM:256500
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Increased circulating IgM level, Lymphedema, Ectodermal dysplasia... OMIM:300291
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Macrocephaly/Autism Syndrome
Decreased circulating antibody level, Lymphopenia, Splenomegaly OMIM:605309
Short Chain Acyl-Coa Dehydrogenase Deficiency
Dystonia, Lethargy ORPHA:26792
Hyperinsulinism Due To Hnf1A Deficiency
Lethargy, Polyphagia, Hypoglycemic coma, Drowsiness, Loss of consciousness ORPHA:324575
Beta-Ketothiolase Deficiency
Coma, Thrombocytosis, Oral aversion, Leukocytosis, Excessive daytime somnolence, Reduced consciou... ORPHA:134
Idiopathic Congenital Hypothyroidism
Prolonged neonatal jaundice, Lethargy, Facial edema ORPHA:95717
Methylmalonic Aciduria, Cbla Type
Coma, Lethargy, Neutropenia, Pancytopenia, Thrombocytopenia, Dehydration, Anemia OMIM:251100
Dihydrolipoamide Dehydrogenase Deficiency
Dystonia, Lethargy, Ataxia OMIM:246900
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Coma, Dystonia, Lethargy, Neutropenia, Thrombocytopenia, Anemia ORPHA:289916
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Impaired T cell function, Lethargy, Ataxia, Splenomegaly OMIM:201100
Pyruvate Dehydrogenase E1-Alpha Deficiency
Dystonia, Lethargy, Episodic ataxia OMIM:312170
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphedema, Decreased circulating antibody level, Lymphopenia ORPHA:1116
Wiskott-Aldrich Syndrome
Iron deficiency anemia, Decreased mean platelet volume, Increased circulating IgE level, Decrease... OMIM:301000
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level ORPHA:99811
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Increased circulating antibody level, Decreased proportion of CD3-positive T cells, Lymphopenia, ... ORPHA:169160
Immunodeficiency, Common Variable, 6
Chronic decreased circulating total IgG, Complete or near-complete absence of specific antibody r... OMIM:613496
Lethal Infantile Mitochondrial Myopathy
Lethargy ORPHA:254857
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Lethargy, Death in infancy, Ataxia OMIM:614299
Hyperlysinuria With Hyperammonemia
Coma, Lethargy OMIM:238750
Agammaglobulinemia 6, Autosomal Recessive
Agammaglobulinemia OMIM:612692
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Netherton Syndrome
Decreased circulating antibody level, Dehydration, Urticaria, Increased circulating IgE level ORPHA:634
Immunodeficiency 36
Decreased circulating antibody level, Lymphopenia, Chronic lymphatic leukemia, Splenomegaly OMIM:616005
Mitochondrial Complex I Deficiency, Nuclear Type 4
Lethargy, Ataxia OMIM:618225
Bloom Syndrome
Facial telangiectasia in butterfly midface distribution, Decreased circulating IgA level, Decreas... OMIM:210900
Ataxia-Telangiectasia
Prematurely aged appearance, Premature graying of hair, Decreased circulating antibody level, Gai... ORPHA:100
Eosinophilic Fasciitis
Acrocyanosis, Muscular edema, Edema, Abnormal eosinophil morphology, Eosinophilia ORPHA:3165
Neuralgic Amyotrophy
Acrocyanosis ORPHA:2901
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of class-switched memory B cells, Absent isohemagglutinin level, Increased p... OMIM:615559
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, B lymphocytopenia, Increased circulating IgE level ORPHA:217390
Immunodeficiency 27A
Thrombocytosis, Increased circulating IgM level, Leukocytosis, Histiocytosis, Increased circulati... OMIM:209950
Dopa-Responsive Dystonia
Inability to walk, Dystonia, Lethargy, Difficulty walking, Gait disturbance, Leg dystonia, Oculog... ORPHA:255
Classic Galactosemia
Dystonia, Lethargy, Gait disturbance, Ataxia, Jaundice, Ascites, Abnormal erythrocyte enzyme leve... ORPHA:79239
Congenital Pulmonary Lymphangiectasia
Hydrops fetalis, Pleural effusion, Ascites, Splenomegaly, Cyanosis, Chylopericardium ORPHA:2414
Mitochondrial Complex I Deficiency, Nuclear Type 6
Lethargy OMIM:618228
Galactosemia
Dystonia, Lethargy, Gait disturbance, Ataxia, Jaundice, Ascites, Abnormal erythrocyte enzyme leve... ORPHA:352
Lymphoproliferative Syndrome 1
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Pleural effusion, Pericardial effusion,... OMIM:613011
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Coma, Drowsiness, Lethargy ORPHA:276608
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Decreased proportion of CD4-positive helper T cells... ORPHA:276
Dengue Fever
Lethargy, Thrombocytopenia, Petechiae, Ascites, Leukopenia, Bruising susceptibility ORPHA:99828
Griscelli Syndrome
Premature graying of hair, Abnormality of neutrophils, Decreased circulating antibody level, Peda... ORPHA:381
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Megaloblastic anemia, Gait disturbance, Lethargy OMIM:236270
Immunodeficiency 68
Abscess, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Transient Neonatal Diabetes Mellitus
Dehydration ORPHA:99886
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Splenomega... OMIM:150550
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Lethargy OMIM:201470
Crigler-Najjar Syndrome
Jaundice, Lethargy ORPHA:205
Immunodeficiency, Common Variable, 2
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Impaired T ce... OMIM:240500
Apnea, Central Sleep
Cyanosis OMIM:207720
Alpha-Heavy Chain Disease
Dysgammaglobulinemia, Ascites, Anemia, Splenomegaly ORPHA:100025
Febrile Infection-Related Epilepsy Syndrome
Lethargy ORPHA:163703
Dyskeratosis Congenita, Autosomal Recessive 5
Decreased circulating antibody level, Bone marrow hypocellularity, Leukopenia OMIM:615190
Epilepsy-Telangiectasia Syndrome
Decreased circulating antibody level, Decreased circulating IgA level ORPHA:1951
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Decreased circulating antibody level, Thrombocytopenia OMIM:616576
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Coma, Delirium, Lethargy, Ataxia, Confusion, Drowsiness, Loss of consciousness ORPHA:927
Lymphoproliferative Syndrome, X-Linked, 2
Hemophagocytosis, Decreased circulating antibody level, Pancytopenia, Aplastic anemia, Splenomegaly OMIM:300635
Laryngeal Abductor Paralysis
Dysphagia, Cyanosis OMIM:150260
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Decreased circulating antibody level, Agammaglobulinemia OMIM:616910
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Dystonia, Lethargy, Death in infancy, Ataxia, Pancytopenia, Cerebral edema OMIM:618321
Ebola Hemorrhagic Fever
Thrombocytopenia, Coma, Lethargy, Leukopenia ORPHA:319218
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Decreased circulating antibody level, Gait disturbance, Ataxia ORPHA:85317
Cryptosporidiosis
Dysphagia, Decreased proportion of CD4-positive helper T cells, Dehydration, Abnormal T cell coun... ORPHA:1549
Omenn Syndrome
Severe B lymphocytopenia, Thrombocytopenia, Hypoplasia of the thymus, B lymphocytopenia, Anemia, ... OMIM:603554
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Transient hypogammaglobulinemia of infancy OMIM:251240
Kimura Disease
Increased circulating IgE level, Eosinophilia ORPHA:482
3-Hydroxy-3-Methylglutaric Aciduria
Coma, Lethargy, Thrombocytosis, Leukocytosis, Hypoglycemic coma, Ataxia, Jaundice, Dehydration, E... ORPHA:20
Glycerol Kinase Deficiency
Coma, Lethargy, Loss of consciousness OMIM:307030
Citrullinemia Type I
Coma, Lethargy, Ataxia, Torticollis, Loss of consciousness ORPHA:247525
Tempi Syndrome
Increased hematocrit, Facial erythema, Polycythemia, Increased circulating IgG level, Ascites, Hy... ORPHA:284227
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Death in childhood, Lethargy, Death in infancy OMIM:619064
Holocarboxylase Synthetase Deficiency
Coma, Lethargy, Ataxia, Desquamation of skin soon after birth, Thrombocytopenia ORPHA:79242
Secondary Intestinal Lymphangiectasia
Lymphedema, Pleural effusion, Decreased circulating antibody level, Pedal edema, Lymphopenia, Chy... ORPHA:90363
Hyperphenylalaninemia, Bh4-Deficient, B
Dysphagia, Dystonia, Lethargy OMIM:233910
Multiple Mitochondrial Dysfunctions Syndrome 1
Lethargy OMIM:605711
Immunodeficiency By Defective Expression Of Mhc Class Ii
T lymphocytopenia, Abnormal CD4:CD8 ratio, Autoimmune thrombocytopenia, Autoimmune hemolytic anem... ORPHA:572
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Jaundice, Dehydration, Death in infancy OMIM:208085
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Polyhydramnios, Inability to walk, T lymphocytopenia, Increased circulating IgE level, Decreased ... ORPHA:508533
Marburg Hemorrhagic Fever
Thrombocytopenia, Jaundice, Lethargy, Leukopenia ORPHA:99826
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Coma, Episodic ataxia, Lethargy, Ataxia, Cerebral edema OMIM:311250
Combined Oxidative Phosphorylation Deficiency 52
Lethargy, Death in infancy OMIM:619386
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis ORPHA:91130
Osteopetrosis, Autosomal Recessive 7
Death in infancy, Death in childhood, Decreased circulating IgA level, Anemia, Splenomegaly, Decr... OMIM:612301
Schnitzler Syndrome
Increased circulating IgM level, Leukocytosis, Anemia, Splenomegaly, Urticaria ORPHA:37748
Staphylococcal Necrotizing Pneumonia
Lethargy, Leukocytosis, Pleural effusion, Pleural empyema, Confusion, Leukopenia, Neutrophilia, H... ORPHA:36238
Lymphoproliferative Syndrome 2
Hemophagocytosis, Decreased circulating antibody level, Pancytopenia, Decreased lymphocyte prolif... OMIM:615122
Cyclic Vomiting Syndrome
Attention deficit hyperactivity disorder, Lethargy, Ataxia OMIM:500007
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Gait disturbance, Lethargy, Anemia, Ataxia OMIM:615838
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Hemolytic anemia, Increased circulating IgE level, Decreased specific anti-pol... OMIM:606367
Lambert Syndrome
Jaundice, Decreased circulating antibody level ORPHA:1296
Pseudo-Torch Syndrome 2
Thrombocytopenia, Petechiae, Lethargy, Ascites OMIM:617397
Xq28 (MECP2) duplication
Inability to walk, Gait ataxia, Dysphagia, Death in childhood, Decreased circulating IgA level DECIPHER:45
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Thrombocytopenia, Lethargy ORPHA:49827
Selective Igm Deficiency
Cutaneous abscess, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Dec... ORPHA:331235
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Difficulty walking, Neutropenia, Jaundice, Dehydration, As... ORPHA:1667
Familial Hemophagocytic Lymphohistiocytosis
Coma, Hemophagocytosis, Increased serum interferon-gamma level, Purpura, Decreased circulating an... ORPHA:540
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Decreased circulating IgG level, Edema, Neutropenia OMIM:600351
Congenital Enterocyte Heparan Sulfate Deficiency
Dehydration, Edema ORPHA:103910
Carnitine Deficiency, Systemic Primary
Confusion, Coma, Excessive daytime somnolence, Lethargy OMIM:212140
Leukoencephalopathy With Vanishing White Matter
Gait disturbance, Lethargy, Unsteady gait OMIM:603896
Citrullinemia Type Ii
Coma, Delirium, Lethargy, Confusion, Drowsiness, Abnormal eating behavior, Hyperactivity, Fluctua... ORPHA:247585
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Central Neurocytoma
Coma, Lethargy, Ataxia ORPHA:73256
Insulinoma
Coma, Lethargy, Polyphagia, Reduced consciousness/confusion, Fluctuations in consciousness ORPHA:97279
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Coma, Cerebral edema, Lethargy, Ataxia OMIM:237300
Hemochromatosis, Type 2A
Lethargy, Splenomegaly OMIM:602390
Enteric Anendocrinosis
Dehydration ORPHA:83620
Trichinellosis
Lethargy, Increased circulating IgE level, Dysphagia, Excessive daytime somnolence, Reduced consc... ORPHA:863
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Neonatal death, Splenomegaly, Oligohydramnios, Dehydration OMIM:263200
Hyperimmunoglobulinemia D With Periodic Fever
Acrocyanosis, Purpura, Ataxia, Erythema, Increased circulating IgA level, Urticaria ORPHA:343
Encephalopathy, Recurrent, Of Childhood
Athetosis, Lethargy, Truncal ataxia OMIM:130950
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Decreased circulating IgA level OMIM:215250
Methylcobalamin Deficiency Type Cble
Lethargy, Excessive daytime somnolence, Neutropenia, Pancytopenia, Drowsiness, Increased mean cor... ORPHA:2169
Rift Valley Fever
Coma, Lethargy, Purpura, Jaundice, Bruising susceptibility ORPHA:319251
Laryngotracheoesophageal Cleft
Choking episodes, Cyanosis, Impaired oropharyngeal swallow response ORPHA:2004
Cystinosis
Gait disturbance, Dehydration, Polydipsia ORPHA:213
Yellow Fever
Jaundice, Dehydration, Lethargy ORPHA:99829
Maple Syrup Urine Disease
Coma, Cerebral edema, Lethargy, Ataxia OMIM:248600
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Lethargy, Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular volume, Hepatosplenomegaly OMIM:611590
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating antibody level, Decreased circulating IgG level, Decreased circulating IgA ... OMIM:617062
Riddle Syndrome
Conjunctival telangiectasia, Gait disturbance, Ataxia, Erythema, Decreased circulating IgA level,... ORPHA:420741
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Dehydration OMIM:602722
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Lethargy, Gait imbalance OMIM:618120
Mohr-Tranebjaerg Syndrome
Inability to walk, Dystonia, Attention deficit hyperactivity disorder, Dysphagia, Agammaglobuline... ORPHA:52368
Spinocerebellar Ataxia, X-Linked 3
Dysphagia, Lethargy, Death in infancy, Dysmetria OMIM:301790
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Inability to walk, Coma, Dystonia, Lethargy, Gait ataxia, Dysphagia, Craniofacial dystonia, Confu... OMIM:607483
Immunodeficiency 67
Transient neutropenia, Increased circulating IgE level, Liver abscess OMIM:607676
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Dehydration, Ataxia OMIM:560000
Thymic Tumor
Dysphagia, Dysgammaglobulinemia, Edema, Palpebral edema ORPHA:100100
Familial Thyroid Dyshormonogenesis
Prolonged neonatal jaundice, Lethargy, Facial edema ORPHA:95716
Methylmalonyl-Coa Epimerase Deficiency
Dehydration OMIM:251120
Bloom Syndrome
Abnormal proportion of CD8-positive T cells, Decreased circulating antibody level, Acute myeloid ... ORPHA:125
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Thrombocytopenia, Lethargy, Neutropenia, Anemia OMIM:614857
Angiostrongyliasis
Coma, Increased circulating IgM level, Excessive daytime somnolence, Increased circulating specif... ORPHA:74
Multiple Carboxylase Deficiency
Coma, Lethargy, Ataxia ORPHA:148
Hemochromatosis Type 2
Lethargy ORPHA:79230
Buerger Disease
Acrocyanosis ORPHA:36258
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Lethargy OMIM:610006
Susac Syndrome
Confusion, Lethargy, Gait ataxia ORPHA:838
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Coma, Microangiopathic hemolytic anemia, Reticulocytosis, Leukocytosis, Excessive daytime somnole... ORPHA:90038
Benign Samaritan Congenital Myopathy
Lethargy ORPHA:324581
Necrotizing Enterocolitis
Lethargy, Leukocytosis, Neutropenia, Thrombocytopenia, Edema, Ascites ORPHA:391673
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Increased circulating IgM level, Reduced natural killer cell count, Decreased ... OMIM:242860
Typhoid
Coma, Lethargy, Ataxia, Splenomegaly ORPHA:99745
Alopecia Antibody Deficiency
Decreased circulating antibody level ORPHA:1006
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Cyanosis, Polycythemia OMIM:250800
Carnitine Palmitoyl Transferase 1A Deficiency
Coma, Lethargy, Loss of consciousness ORPHA:156
Thyroid Dyshormonogenesis 1
Lethargy OMIM:274400
Trichothiodystrophy 5, Nonphotosensitive
Decreased circulating antibody level, Progeroid facial appearance, Cutis marmorata, Cutaneous pho... OMIM:300953
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Coma, Cerebral edema, Lethargy OMIM:201450
Ring Chromosome 21 Syndrome
Cutaneous photosensitivity, Gait disturbance, Decreased circulating antibody level ORPHA:1445
Lassa Fever
Lethargy, Palpebral edema, Pleural effusion, Thrombocytopenia, Leukopenia ORPHA:99824
Dihydropyrimidinase Deficiency
Excessive daytime somnolence, Lethargy OMIM:222748
Hereditary Methemoglobinemia
Methemoglobinemia, Athetosis, Cyanosis, Limb dystonia ORPHA:621
Lichtenstein Syndrome
Decreased circulating IgA level, Neutropenia OMIM:246550
Infantile Liver Failure Syndrome 2
Jaundice, Lethargy OMIM:616483
Meningococcal Meningitis
Lethargy, Purpura, Reduced consciousness/confusion, Drowsiness, Petechiae ORPHA:33475
Pyruvate Dehydrogenase Deficiency
Gait disturbance, Dystonia, Lethargy, Ataxia ORPHA:765
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Coma, Lethargy, Ataxia, Loss of consciousness ORPHA:42
Immunodeficiency 43
Decreased circulating IgG level OMIM:241600
Hsd10 Disease, Infantile Type
Dysphagia, Dystonia, Loss of ability to walk, Cyanosis ORPHA:391428
Arthrogryposis Multiplex Congenita 6
Polyhydramnios, Akinesia, Death in infancy, Neonatal death, Death in childhood OMIM:619334
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Delirium, Hydrops fetalis, Lethargy, Megaloblastic anemia, Neutropenia, Ataxia, Thrombocytopenia,... ORPHA:79282
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Abnormal serum interleukin level, Decreased proportion of memory B cells, Panh... ORPHA:79124
Chiari Malformation Type Ii
Dysphagia, Cyanosis, Ataxia OMIM:207950
Boutonneuse Fever
Thrombocytopenia, Increased circulating IgG level, Increased circulating IgM level, Leukopenia ORPHA:83313
Corticosterone Methyloxidase Type Ii Deficiency
Dehydration OMIM:610600
Cirrhosis, Familial
Increased circulating antibody level OMIM:118900
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgM level, Leukocytosis, Increased proportion of CD4-positive T cells, Incr... OMIM:617099
Cystic Fibrosis
Decreased circulating antibody level ORPHA:586
Corticosterone Methyloxidase Type I Deficiency
Dehydration OMIM:203400
Tricuspid Atresia
Cyanosis ORPHA:1209
Maternal Uniparental Disomy Of Chromosome 1
Pancytopenia, Panhypogammaglobulinemia, Ataxia ORPHA:251009
Ataxia-Telangiectasia
Conjunctival telangiectasia, Defective B cell differentiation, Dystonia, T lymphocytopenia, Decre... OMIM:208900
Cholera
Palmoplantar cutis laxa, Dehydration, Lethargy, Loss of consciousness ORPHA:173
Myxedema
Lethargy OMIM:255900
Glucose/Galactose Malabsorption
Hypertonic dehydration OMIM:606824
Secondary Short Bowel Syndrome
Dehydration, Polyphagia ORPHA:95427
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Dehydration OMIM:264350
Congenital Fibrinogen Deficiency
Splenic rupture, Subcutaneous hemorrhage, Cyanosis, Bruising susceptibility, Loss of consciousness ORPHA:335
Immunodeficiency 23
Increased circulating IgM level, Increased circulating IgE level, Hemolytic anemia, Vasculitis in... OMIM:615816
Neuroleptic Malignant Syndrome
Coma, Delirium, Thrombocytosis, Leukocytosis, Dysphagia, Reduced consciousness/confusion, Thrombo... ORPHA:94093
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Dystonia, Lethargy, Spastic ataxia, Megaloblastic anemia, Increased mean corpuscular volume OMIM:277410
Primary Intestinal Lymphangiectasia
Iron deficiency anemia, Hydrops fetalis, Lymphedema, Pleural effusion, Pericardial effusion, Peda... ORPHA:90362
Encephalopathy, Ethylmalonic
Acrocyanosis, Petechiae, Ataxia OMIM:602473
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Confusion, Coma, Lethargy OMIM:238970
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Conjunctival telangiectasia, Dystonia, Death in infancy, Ataxia, Decreased circulating IgA level,... OMIM:208910
Sepsis In Premature Infants
Purpura, Leukocytosis, Neutropenia, Increased circulating interleukin 6, Jaundice, Petechiae, Thr... ORPHA:90051
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased proportion of CD3-positive T cells, Decreased circulating IgG level, Decreased circulat... ORPHA:275
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae, Ataxia ORPHA:51188
Icf Syndrome
Abnormality of neutrophils, Decreased circulating antibody level, Lymphopenia, Anemia ORPHA:2268
Pyruvate Dehydrogenase E3 Deficiency
Lethargy, Ataxia ORPHA:2394
Hereditary Folate Malabsorption
Megaloblastic anemia, Decreased circulating antibody level, Pancytopenia, Thrombocytopenia, Eosin... ORPHA:90045
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Idiopathic Intracranial Hypertension
Lethargy ORPHA:238624
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia, Cyanosis OMIM:250790
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Benign Familial Neonatal Epilepsy
Circumoral cyanosis ORPHA:1949
Thymoma
Hemolytic anemia, Decreased circulating antibody level, Abnormal lymphocyte morphology, Dysphagia... ORPHA:99867
Postsynaptic Congenital Myasthenic Syndromes
Drowsiness, Cyanosis ORPHA:98913
Congenital Myasthenic Syndrome
Polyhydramnios, Choking episodes, Difficulty walking, Dysphagia, Toe walking, Ataxia, Waddling ga... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Polyhydramnios, Choking episodes, Difficulty walking, Dysphagia, Toe walking, Ataxia, Waddling ga... ORPHA:98914
Poems Syndrome
Acrocyanosis, Thrombocytosis, Pleural effusion, Pericardial effusion, Increased circulating antib... ORPHA:2905
Harlequin Ichthyosis
Dehydration ORPHA:457
Infant Acute Respiratory Distress Syndrome
Hypoxemia, Cyanosis, Pulmonary edema ORPHA:70587
Acute Interstitial Pneumonia
Pleural effusion, Pericardial effusion, Peripheral edema, Reduced hematocrit, Hypoxemia, Cyanosis ORPHA:79126
Visceral Steatosis, Congenital
Coma, Neonatal death, Lethargy, Jaundice OMIM:228100
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Dehydration OMIM:177735
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis, Dystonia, Truncal ataxia OMIM:614407
Encephalitis Lethargica
Coma, Increased circulating antibody level, Lethargy ORPHA:83600
Pearson Syndrome
Hydrops fetalis, Reticulocytosis, Dysphagia, Neutropenia, Ataxia, Pancytopenia, Corneal stromal e... ORPHA:699
Cryptogenic Organizing Pneumonia
Neutrophilia, Cyanosis, Hypoxemia, Leukocytosis ORPHA:1302
Genetic Transient Congenital Hypothyroidism
Prolonged neonatal jaundice, Lethargy, Edema ORPHA:226316
Shigellosis
Abscess, Microangiopathic hemolytic anemia, Purpura, Splenic abscess, Leukocytosis, Thrombocytope... ORPHA:810
Early-Onset Familial Hypoaldosteronism
Dehydration ORPHA:556030
Carnitine Palmitoyltransferase I Deficiency
Coma, Lethargy OMIM:255120
Lamellar Ichthyosis
Dehydration ORPHA:313
Mitochondrial Complex I Deficiency, Nuclear Type 9
Lethargy OMIM:618232
Aicardi-Goutieres Syndrome 1
Acrocyanosis, Dystonia, Purpura, Prolonged neonatal jaundice, Thrombocytopenia, Petechiae, Spleno... OMIM:225750
Alternating Hemiplegia Of Childhood
Dystonia, Dysphagia, Flushing, Ataxia, Oral-pharyngeal dysphagia, Dehydration ORPHA:2131
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Thrombocytosis, Decreased circulating antibody level, Edema, Ascites, Gen... OMIM:226300
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis OMIM:263000
Renal Hypoplasia
Dehydration, Polydipsia ORPHA:93101
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypertonic dehydration, Polydipsia OMIM:125800
Diabetes Insipidus, Nephrogenic, X-Linked
Hypertonic dehydration, Polydipsia OMIM:304800
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Panhypogammaglobulinemia OMIM:602450
Motor Neuropathy, Peripheral, With Dysautonomia
Cyanosis OMIM:252320
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, Decreased circulating antibody level, Sideroblastic anemia, B lymp... OMIM:616084
Bare Lymphocyte Syndrome, Type Ii
Cutaneous anergy, Panhypogammaglobulinemia, Neutropenia, Agammaglobulinemia OMIM:209920
Roifman Syndrome
Decreased circulating antibody level, Hepatosplenomegaly, Eosinophilia ORPHA:353298
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Scrub Typhus
Lethargy, Reduced consciousness/confusion, Splenomegaly ORPHA:83317
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased circulating antibody level, N... OMIM:615952
Carnitine-Acylcarnitine Translocase Deficiency
Coma, Cyanosis, Lethargy ORPHA:159
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Difficulty walking, Dysphagia, Gait disturbance, Cyanosis, Gait imbalance ORPHA:488627
Combined Oxidative Phosphorylation Deficiency 11
Lethargy, Death in infancy OMIM:614922
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Lethargy, Megaloblastic anemia, Neutropenia, Pancytopenia, Thrombocytopenia OMIM:277380
Ogden Syndrome
Torticollis, Excessive daytime somnolence, Lethargy, Shuffling gait ORPHA:276432
Asbestos Intoxication
Oxygen desaturation on exertion, Cyanosis, Edema, Hypoxemia ORPHA:2302
Diarrhea 1, Secretory Chloride, Congenital
Polyhydramnios, Dehydration OMIM:214700
Colchicine Poisoning
Leukocytosis, Dehydration, Reduced consciousness/confusion ORPHA:31824
Hyperinsulinism Due To Hnf4A Deficiency
Coma, Drowsiness, Lethargy ORPHA:263455
Generalized Pseudohypoaldosteronism Type 1
Dehydration ORPHA:171876
Pyruvate Carboxylase Deficiency
Coma, Dystonia, Excessive daytime somnolence, Ataxia, Dehydration, Tip-toe gait ORPHA:3008
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Lethargy OMIM:600649
Pulmonary Capillary Hemangiomatosis
Pleural effusion, Pericardial effusion, Pedal edema, Hypoxemia, Pulmonary edema, Cyanosis ORPHA:199241
Holocarboxylase Synthetase Deficiency
Thrombocytopenia, Coma, Lethargy OMIM:253270
Hypothyroidism Due To Tsh Receptor Mutations
Prolonged neonatal jaundice, Lethargy, Edema ORPHA:90673
Rasmussen Subacute Encephalitis
Inability to walk, Decreased circulating total IgA, Hemidystonia, Hyperactivity, Attention defici... ORPHA:1929
Pgm3-Cdg
T lymphocytopenia, Abnormal CD4:CD8 ratio, Cutaneous abscess, Increased circulating IgE level, He... ORPHA:443811
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Coma, Lethargy OMIM:210200
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Decreased circulating total IgM, Decreased circulating IgA level ORPHA:369837
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Lethargy, Death in infancy OMIM:201475
Pulmonary Alveolar Proteinosis, Acquired
Lung abscess, Hypoxemia, Cyanosis, Brain abscess OMIM:610910
Tick-Borne Encephalitis
Coma, Delirium, Increased circulating IgM level, Decreased vigilance, Leukocytosis, Dysphagia, Ex... ORPHA:297
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal death, Cyanosis, Death in infancy OMIM:265120
Dravet Syndrome
Progressive gait ataxia, Cyanotic episode, Bradykinesia ORPHA:33069
Laryngotracheal Angioma
Cyanosis ORPHA:137935
Microvillus Inclusion Disease
Dehydration ORPHA:2290
Adrenal Hypoplasia, Congenital
Dehydration OMIM:300200
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Dysphagia, Decreased circulating IgG level, Neutropenia OMIM:608809
Glucose-Galactose Malabsorption
Dehydration ORPHA:35710
Eosinophilic Granulomatosis With Polyangiitis
Acrocyanosis, Purpura, Dysphagia, Gait disturbance, Cutis marmorata, Urticaria, Eosinophilia ORPHA:183
Vipoma
Subcutaneous lipoma, Erythema, Intermittent jaundice, Dehydration, Normochromic anemia, Ascites ORPHA:97282
Igg4-Related Aortitis
Increased circulating IgE level, Increased circulating antibody level, Increased circulating IgG4... ORPHA:449400
Resistance To Thyrotropin-Releasing Hormone Syndrome
Prolonged neonatal jaundice, Lethargy ORPHA:99832
Hypoadrenocorticism, Familial
Cyanosis OMIM:240200
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Delirium, Lethargy, Megaloblastic anemia, Neutropenia, Confusion, Thrombocytopenia OMIM:277400
Ethylene Glycol Poisoning
Coma, Ataxia, Confusion, Drowsiness, Pulmonary edema, Cyanosis, Cerebral edema ORPHA:31826
Choanal Atresia
Choking episodes, Cyanosis ORPHA:137914
Citrullinemia, Classic
Coma, Cerebral edema, Lethargy, Ataxia OMIM:215700
Good Syndrome
Decreased circulating antibody level, Dysphagia, Thrombocytopenia, Anemia, Abnormal leukocyte mor... ORPHA:169105
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Lethargy ORPHA:2089
Waldenström Macroglobulinemia
Cryoglobulinemia, Purpura, Abnormality of neutrophils, Pleural effusion, Pedal edema, Reduced con... ORPHA:33226
Pulmonary Arteriovenous Malformation
Iron deficiency anemia, Pleural empyema, Liver abscess, Brain abscess, Hypoxemia, Cyanosis, Telan... ORPHA:2038
Mitochondrial Trifunctional Protein Deficiency
Hydrops fetalis, Lethargy OMIM:609015
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Vacuolated lymphocytes, Jaundice, Dehydration, Ascites, Anemia, Hypersple... ORPHA:275761
Aromatic L-Amino Acid Decarboxylase Deficiency
Lethargy, Blepharospasm, Oculogyric crisis, Torticollis, Limb dystonia, Athetosis OMIM:608643
Dend Syndrome
Elevated hemoglobin A1c, Dehydration ORPHA:79134
Glycogen Storage Disease Of Heart, Lethal Congenital
Pulmonary edema, Cyanosis, Ascites OMIM:261740
Immunodeficiency 58
Cold urticaria, Cutaneous abscess, Decreased circulating antibody level, Decreased specific antib... OMIM:618131
Lysinuric Protein Intolerance
Coma, Hemophagocytosis, Lethargy, Oral aversion, Decreased circulating antibody level, Abnormalit... ORPHA:470
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Severe B lymphocytopenia, Decreased circulating antibody level, Abnormal lymphocyte morphology, A... ORPHA:293978
Mucopolysaccharidosis-Plus Syndrome
Inability to walk, Increased circulating IgM level, Neutropenia, Thrombocytopenia, Splenomegaly, ... OMIM:617303
Symptomatic Form Of Hemochromatosis Type 1
Lethargy, Joint swelling, Splenomegaly ORPHA:465508
X-Linked Agammaglobulinemia
Neutropenia, Thrombocytopenia, Recurrent cutaneous abscess formation, Agammaglobulinemia, Anemia ORPHA:47
Dopamine Beta-Hydroxylase Deficiency
Dehydration, Anemia ORPHA:230
Fructose-1,6-Bisphosphatase Deficiency
Coma, Lethargy OMIM:229700
Zika Virus Disease
Thrombocytopenia, Subcutaneous hemorrhage, Increased circulating IgM level, Edema ORPHA:448237
Cushing Disease
Lethargy, Bruising susceptibility, Telangiectasia of the skin ORPHA:96253
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cyanotic episode ORPHA:284417
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Lethargy OMIM:615751
Immunodeficiency 59 And Hypoglycemia
Hypochromic anemia, Leukocytosis, Decreased circulating antibody level, Thrombocytopenia, Granulo... OMIM:233600
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura, Thrombocytopenia ORPHA:49566
Primary Biliary Cholangitis
Increased circulating IgM level, Excessive daytime somnolence, Jaundice, Ascites, Increased circu... ORPHA:186
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Lymphopenia, Erythema, Increased circulating IgG level, Cutis marmorata, Leukopen... OMIM:615934
Congenital Disorder Of Glycosylation, Type Iil
Peau d'orange, Decreased specific anti-polysaccharide antibody level, Death in infancy, Pancytope... OMIM:614576
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Severe B lymphocytopenia, B lymphocytopenia, Decreased circulating total IgM ORPHA:83617
Oligomeganephronia
Dehydration, Polydipsia ORPHA:2260
Sim1-Related Prader-Willi-Like Syndrome
Xerostomia, Lethargy, Polyphagia ORPHA:398079
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Hypereosinophilia, Increased circulating IgG level, Splenomegaly, In... OMIM:617388
Methylmalonic Acidemia With Homocystinuria Type Cblf
Megaloblastic anemia, Lethargy, Neutropenia ORPHA:79284
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Jaundice, Pericardial effusion, Lethargy ORPHA:26793
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Lethargy, Oligohydramnios OMIM:608836
Isolated Thyroid-Stimulating Hormone Deficiency
Prolonged neonatal jaundice, Lethargy, Attention deficit hyperactivity disorder, Facial edema ORPHA:90674
Kufor-Rakeb Syndrome
Lethargy, Difficulty walking, Dysphagia, Gait disturbance, Blepharospasm, Bradykinesia, Confusion... ORPHA:306674
Mitochondrial Phosphate Carrier Deficiency
Cyanosis OMIM:610773
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Neutropenia, Reticulocytopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Leukope... ORPHA:508542
Arnold-Chiari Malformation Type Ii
Difficulty walking, Dysphagia, Cyanosis, Ataxia ORPHA:1136
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Agammaglobulinemia, Anemia ORPHA:935
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Decreased circulating antibody level, Lymphopenia, Eosinophilia OMIM:617425
Autosomal Dominant Progressive External Ophthalmoplegia
Lethargy, Gait ataxia, Dysphagia, Gait disturbance, Ataxia, Bradykinesia, Edema ORPHA:254892
Mitochondrial Trifunctional Protein Deficiency
Coma, Lethargy, Toe walking