WISKOTT-ALDRICH SYNDROME, AUTOSOMAL DOMINANT FORM

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 38
OrphanetNr:
OMIM Id: 600903
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant 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:0000112) Nephropathy 92 / 7739
2
 (HPO:0000246) Sinusitis 73 / 7739
3
 (HPO:0000421) Epistaxis 85 / 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:0002014) Diarrhea 225 / 7739
9
 (HPO:0002037) Inflammation of the large intestine 25 / 7739
10
 (HPO:0000964) Eczema 81 / 7739
11
 (HPO:0011944) Small vessel vasculitis 3 / 7739
12
 (HPO:0005310) Large vessel vasculitis 2 / 7739
13
 (HPO:0003010) Prolonged bleeding time 88 / 7739
14
 (HPO:0001888) Lymphopenia 43 / 7739
15
 (HPO:0001873) Thrombocytopenia 224 / 7739
16
 (HPO:0002963) Abnormal delayed hypersensitivity skin test 2 / 7739
17
 (HPO:0005537) Decreased mean platelet volume 7 / 7739
18
 (HPO:0002848) Specific anti-polysaccharide antibody deficiency 2 / 7739
19
 (HPO:0003261) Increased IgA level 12 / 7739
20
 (HPO:0002850) IgM deficiency 18 / 7739
21
 (HPO:0003212) Increased IgE level 13 / 7739
22
 (HPO:0001878) Hemolytic anemia 83 / 7739
23
 (HPO:0002971) Absent microvilli on the surface of peripheral blood lymphocytes 2 / 7739
24
 (HPO:0001983) Reduced lymphocyte surface expression of CD43 2 / 7739
25
 (HPO:0001891) Iron deficiency anemia 22 / 7739
26
 (HPO:0003565) Elevated erythrocyte sedimentation rate 31 / 7739
27
 (HPO:0002090) Pneumonia 59 / 7739
28
 (HPO:0002783) Recurrent lower respiratory tract infections 8 / 7739
29
 (OMIM) Decreased CD3+ cells subset 1 / 7739
30
 (OMIM) Small and large vessel vasculitis 2 / 7739
31
 (OMIM) Moderately depressed antibody response to polysaccharide antigens 2 / 7739
32
 (OMIM) Normal IgG levels 2 / 7739
33
 (OMIM) Decreased CD4+ cells subset 1 / 7739
34
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
35
 (HPO:0040184) Oral bleeding 2 / 7739
36
 (OMIM) Decreased CD8+ cells subset 1 / 7739
37
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
38
 (OMIM) Raised C-reactive protein 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: