Wiskott-aldrich syndrome

Preferred Label : Wiskott-aldrich syndrome;

Symbol : WAS;

CISMeF acronym : IMD2; WAS; WAS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Immunodeficiency 2; Aldrich syndrome; WAS1; IMD2; Wiskott-aldrich syndrome 1; Eczema-thrombocytopenia-immunodeficiency syndrome;

Description : Wiskott-Aldrich syndrome is an X-linked recessive immunodeficiency characterized by thrombocytopenia, eczema, and recurrent infections (Lemahieu et al., 1999).;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the Wiskott-Aldrich syndrome protein gene (WASP, 301000.0001);

Laboratory abnormalities : Prolonged bleeding time; Normal IgG levels; Raised ESR; Raised CRP; Reduced IgM levels; Increased IgE levels; Increased IgA levels;

Prefixed ID : #301000;

Details

Origin ID

301000;

UMLS CUI

C0043194;

Automatic exact mappings (from CISMeF team)
- Am Ag [LOINC component]
- Americium [NCIt concept]
- Androgen Response Element [NCIt concept]
- Are [NCIt concept]
- Attometer [NCIt concept]
- BES [MeSH concept]
- BES [MeSH Supplementary Concept]
- Bachelor of Engineering [NCIt concept]
- Barrett Esophagus [NCIt concept]
- Beryllium [NCIt concept]
- DNA Insertion Elements [NCIt concept]
- WAS Gene [NCIt concept]
- WAS gene [LOINC component]
- WAS wt Allele [NCIt concept]
- WASF2 wt Allele [NCIt concept]
- WASP actin nucleation promoting factor [HGNC gene]
- WASP actin nucleation promoting factor [ORDO Gene]
- Washington [NCIt concept]
- Washo Language [NCIt concept]
- Wiskott-Aldrich Syndrome Protein [NCIt concept]
- bes [Substance BNPC]
- is (tumor staging) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Aldrich syndrome [MedDRA LLT]
- Wiskott Aldrich syndrome [Disease (Nov.)]
- Wiskott-Aldrich Syndrome [NCIt concept]
- Wiskott-Aldrich syndrome [PASCAL descriptor]
- Wiskott-Aldrich syndrome [ICD-10 Sub-category]
- Wiskott-Aldrich syndrome [DO Concept]
- Wiskott-Aldrich syndrome [ICD-11 More detail]
- Wiskott-Aldrich syndrome [ICD-10 Sub-category (who)]
- Wiskott-Aldrich syndrome [MedDRA Preferred Term]
- Wiskott-Aldrich syndrome [MeSH concept]
- Wiskott-Aldrich syndrome [ORDO Disease]
- Wiskott-Aldrich syndrome (disorder) [SNOMED CT concept]
- Wiskott-aldrich syndrome [ICD-9 code]
- wiskott-aldrich syndrome [MeSH Descriptor]
- wiskott-aldrich syndrome [SNOMED Notion]
DO Cross reference
- Wiskott-Aldrich syndrome [DO Concept]
False automatic mappings
- Armenia [NCIt concept]
- Belgium [NCIt concept]
- Benign exophthalmos syndrome [ORDO Disease]
- Iceland [NCIt concept]
- United Arab Emirates [NCIt concept]
Genes related to phenotype
- Wasp actin nucleation promoting factor [OMIM gene]
HPO term(s)
- Abnormal delayed hypersensitivity skin test [HPO term]
- Absent microvilli on the surface of peripheral blood lymphocytes [HPO term]
- Autoimmune hemolytic anemia [HPO term]
- Chronic diarrhea [HPO term]
- Decreased circulating total IgM [HPO term]
- Decreased mean platelet volume [HPO term]
- Decreased proportion of CD4-positive helper T cells [HPO term]
- Decreased proportion of CD8-positive T cells [HPO term]
- Decreased specific anti-polysaccharide antibody level [HPO term]
- Diarrhea [HPO term]
- Eczema [HPO term]
- Eosinophilia [HPO term]
- Epistaxis [HPO term]
- Gingival bleeding [HPO term]
- Hematemesis [HPO term]
- Impaired lymphocyte transformation with phytohemagglutinin [HPO term]
- Increased circulating IgA level [HPO term]
- Increased circulating IgE level [HPO term]
- Inflammation of the large intestine [HPO term]
- Iron deficiency anemia [HPO term]
- Large vessel vasculitis [HPO term]
- Lymphopenia [HPO term]
- Melena [HPO term]
- Nephropathy [HPO term]
- Oral bleeding [HPO term]
- Oral bleeding [HPO term]
- Petechiae [HPO term]
- Prolonged bleeding time [HPO term]
- Purpura [HPO term]
- Recurrent herpes [HPO term]
- Recurrent lower respiratory tract infections [HPO term]
- Recurrent meningitis [HPO term]
- Recurrent otitis media [HPO term]
- Recurrent pneumonia [HPO term]
- Recurrent sinusitis [HPO term]
- Recurrent upper respiratory tract infections [HPO term]
- Reduced lymphocyte surface expression of CD43 [HPO term]
- Sepsis [HPO term]
- Small vessel vasculitis [HPO term]
- Thrombocytopenia [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Wiskott-Aldrich syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Aldrich syndrome [MedDRA LLT]
- Wiskott Aldrich syndrome [Disease (Nov.)]
- Wiskott-Aldrich Syndrome [NCIt concept]
- Wiskott-Aldrich syndrome [ICD-10 Sub-category (who)]
- Wiskott-Aldrich syndrome [ORDO Disease]
- Wiskott-Aldrich syndrome [MeSH concept]
- Wiskott-Aldrich syndrome [MedDRA Preferred Term]
- Wiskott-Aldrich syndrome [ICD-10 Sub-category]
- Wiskott-Aldrich syndrome [DO Concept]
- Wiskott-Aldrich syndrome [PASCAL descriptor]
- Wiskott-Aldrich syndrome [ICD-11 More detail]
- Wiskott-Aldrich syndrome (disorder) [SNOMED CT concept]
- Wiskott-aldrich syndrome [ICD-9 code]
- wiskott-aldrich syndrome [SNOMED Notion]
- wiskott-aldrich syndrome [MeSH Descriptor]

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