Wiskott-aldrich syndrome, autosomal dominant

Preferred Label : Wiskott-aldrich syndrome, autosomal dominant;

Type : Other, mainly phenotypes with suspected mendelian basis;

Description : Neri et al. (1995) raised the possibility of an autosomal dominant form of Wiskott-Aldrich syndrome on the basis of a 3-generation family in which several members presented clinical and laboratory findings of WAS (301000), including decreased CD43 expression on T lymphocytes. The gene for CD43, or sialophorin (SPN; 182160), is located on 16p11.2. However, no alteration of CD43 was found: Southern blot analysis failed to detect gross abnormalities of the CD43 gene and genotype analysis showed that the affected family members did not share a common CD43 allele. *FIELD* RF 1. Neri, G.; Bellacosa, A.; Rocca, B.; De Cristofaro, R.; Della Ventura, M.; Maggiano, N.; Landolfi, R.: Wiskott-Aldrich syndrome: an autosomal dominant variant. (Abstract) Am. J. Hum. Genet. 57: A98 only, 1995. *FIELD* CD Victor A. McKusick: 11/1/1995 *FIELD* ED mark: 11/1/1995 *FIELD* CS Autosomal dominant; Autosomal recessive;

Inheritance : Autosomal dominant; Autosomal recessive;

Laboratory abnormalities : Prolonged bleeding time; Increased IgE levels; Reduced IgM levels; Raised C-reactive protein; Normal IgG levels; Raised erythrocyte sedimentation rate; Increased IgA levels;

Prefixed ID : 600903;

Details

Origin ID

600903;

UMLS CUI

C5542398;

Currated CISMeF NLP mapping
- Wiskott-Aldrich syndrome, autosomal dominant form [MeSH concept]
- Wiskott-Aldrich syndrome, autosomal dominant form [MeSH Supplementary Concept]
HPO term(s)
- Abnormal delayed hypersensitivity skin test [HPO term]
- Absent microvilli on the surface of peripheral blood lymphocytes [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Decreased circulating total IgM [HPO term]
- Decreased mean platelet volume [HPO term]
- Decreased specific anti-polysaccharide antibody level [HPO term]
- Diarrhea [HPO term]
- Eczema [HPO term]
- Elevated erythrocyte sedimentation rate [HPO term]
- Epistaxis [HPO term]
- Gingival bleeding [HPO term]
- Hemolytic anemia [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]
- Meningitis [HPO term]
- Nephropathy [HPO term]
- Oral bleeding [HPO term]
- Oral bleeding [HPO term]
- Otitis media [HPO term]
- Pneumonia [HPO term]
- Prolonged bleeding time [HPO term]
- Recurrent lower respiratory tract infections [HPO term]
- Recurrent upper respiratory tract infections [HPO term]
- Reduced lymphocyte surface expression of CD43 [HPO term]
- Sinusitis [HPO term]
- Small vessel vasculitis [HPO term]
- Thrombocytopenia [HPO term]
ORDO concept(s)
- Wiskott-Aldrich syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Wiskott-Aldrich syndrome, autosomal dominant form [MeSH Supplementary Concept]
- Wiskott-Aldrich syndrome, autosomal dominant form [MeSH concept]

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