WISKOTT-ALDRICH SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs: IMMUNODEFICIENCY 2
ECZEMA-THROMBOCYTOPENIA-IMMUNODEFICIENCY SYNDROME
ALDRICH SYNDROME
WISKOTT-ALDRICH SYNDROME 1
WAS1
IMD2
WAS
Number of Symptoms 38
OrphanetNr:
OMIM Id: 301000
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000112) Nephropathy 92 / 7739
2
(HPO:0000421) Epistaxis 85 / 7739
3
(HPO:0000246) Sinusitis 73 / 7739
4
(HPO:0000225) Gingival bleeding 28 / 7739
5
(HPO:0002788) Recurrent upper respiratory tract infections 31 / 7739
6
(HPO:0000388) Otitis media 28 / 7739
7
(HPO:0001287) Meningitis 46 / 7739
8
(HPO:0002037) Inflammation of the large intestine 25 / 7739
9
(HPO:0002249) Melena 11 / 7739
10
(HPO:0002248) Hematemesis 12 / 7739
11
(HPO:0002014) Diarrhea 225 / 7739
12
(HPO:0000979) Purpura 27 / 7739
13
(HPO:0000964) Eczema 81 / 7739
14
(HPO:0000967) Petechiae 26 / 7739
15
(HPO:0005310) Large vessel vasculitis 2 / 7739
16
(HPO:0011944) Small vessel vasculitis 3 / 7739
17
(HPO:0002848) Specific anti-polysaccharide antibody deficiency 2 / 7739
18
(HPO:0003010) Prolonged bleeding time 88 / 7739
19
(HPO:0001878) Hemolytic anemia 83 / 7739
20
(HPO:0002971) Absent microvilli on the surface of peripheral blood lymphocytes 2 / 7739
21
(HPO:0003212) Increased IgE level 13 / 7739
22
(HPO:0001888) Lymphopenia 43 / 7739
23
(HPO:0003261) Increased IgA level 12 / 7739
24
(HPO:0001983) Reduced lymphocyte surface expression of CD43 2 / 7739
25
(HPO:0001873) Thrombocytopenia 224 / 7739
26
(HPO:0005537) Decreased mean platelet volume 7 / 7739
27
(HPO:0001891) Iron deficiency anemia 22 / 7739
28
(HPO:0002963) Abnormal delayed hypersensitivity skin test 2 / 7739
29
(HPO:0002850) IgM deficiency 18 / 7739
30
(HPO:0003565) Elevated erythrocyte sedimentation rate 31 / 7739
31
(HPO:0002783) Recurrent lower respiratory tract infections 8 / 7739
32
(HPO:0002090) Pneumonia 59 / 7739
33
(HPO:0001419) X-linked recessive inheritance 189 / 7739
34
(HPO:0040184) Oral bleeding 2 / 7739
35
(OMIM) Raised CRP 1 / 7739
36
(OMIM) Normal IgG levels 2 / 7739
37
(OMIM) Small and large vessel vasculitis 2 / 7739
38
(OMIM) Moderately depressed antibody response to polysaccharide antigens 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Wiskott-Aldrich syndrome is an X-linked recessive immunodeficiency characterized by thrombocytopenia, eczema, and recurrent infections (Lemahieu et al., 1999).
Clinical Description OMIM The manifestations of Wiskott-Aldrich syndrome are eczema, thrombocytopenia, proneness to infection, and bloody diarrhea. Death usually occurs before age 10 years. The original American kindred reported by Aldrich et al. (1954) was of Dutch extraction; the 3 patients ...
Genotype-Phenotype Correlations OMIM Schindelhauer et al. (1996) found no genotype/phenotype correlation emerge after a comparison of the identified mutations with the resulting clinical picture for a classical WAS phenotype. A mild course, reminiscent of X-linked thrombocytopenia, or an attenuated phenotype was ...
Molecular genetics OMIM Derry et al. (1994) found that the WAS gene was not expressed in 2 unrelated patients with Wiskott-Aldrich syndrome, 1 of whom had a single base deletion that produced a frameshift and premature termination of translation (300392.0001). Two ...
Population genetics OMIM Perry et al. (1980) found an incidence of 4.0 per million live male births in the United States.