WISKOTT-ALDRICH SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 12
OrphanetNr:
OMIM Id: 277970
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0002573) Hematochezia 18 / 7739
2
 (HPO:0000964) Eczema 81 / 7739
3
 (HPO:0000979) Purpura 27 / 7739
4
 (HPO:0005537) Decreased mean platelet volume 7 / 7739
5
 (HPO:0001873) Thrombocytopenia 224 / 7739
6
 (HPO:0001892) Abnormal bleeding 85 / 7739
7
 (OMIM) Proneness to infection 1 / 7739
8
 (OMIM) Platelet surface glycoproteins abnormal 1 / 7739
9
 (OMIM) Predisposition to malignancy, esp. reticuloendothelial 1 / 7739
10
 (OMIM) Low IgM 1 / 7739
11
 (OMIM) Variable IgG 1 / 7739
12
 (OMIM) High IgA and IgE 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: