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4 OMIM references -
2 associated genes
50 signs/symptoms
PROTEIN INTERACTIONS: 1
48 OMIM references -
31 associated genes
No signs/symptoms info
Wiskott-Aldrich syndrome
Autosomal dominant nonsyndromic sensorineural deafness type DFNA

WAS ACTG1
WIPF1 CCDC50
CEACAM16
COCH
COL11A2
CRYM
DFNA5
DIABLO
DIAPH1
DIAPH3
EYA4
GJB2
GJB3
GJB6
GRHL2
KCNQ4
MIR96
MYH14
MYH9
MYO1A
MYO6
MYO7A
P2RX2
POU4F3
SIX1
SLC17A8
TECTA
TJP2
TMC1
TNC
WFS1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
WIPF1
(0.56)
ACTG1



Citations in the biomedical literature:


Wiskott-Aldrich syndrome
WAS WIPF1
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
ACTG1 CCDC50 CEACAM16 COCH COL11A2 CRYM
DFNA5 DIABLO DIAPH1 DIAPH3 EYA4 GJB2
GJB3 GJB6 GRHL2 KCNQ4 MIR96 MYH14
MYH9 MYO1A MYO6 MYO7A P2RX2 POU4F3
SIX1 SLC17A8 TECTA TJP2 TMC1 TNC
WFS1



Wiskott-Aldrich syndrome
Autosomal dominant nonsyndromic sensorineural deafness type DFNA

Synonym(s):
- Eczema-thrombocytopenia-immunodeficiency syndrome
- WAS

Synonym(s):
- Autosomal dominant isolated neurosensory deafness type DFNA
- Autosomal dominant isolated neurosensory hearing loss type DFNA
- Autosomal dominant isolated sensorineural deafness type DFNA
- Autosomal dominant isolated sensorineural hearing loss type DFNA
- Autosomal dominant nonsyndromic neurosensory deafness type DFNA
- Autosomal dominant nonsyndromic neurosensory hearing loss type DFNA
- Autosomal dominant nonsyndromic sensorineural hearing loss type DFNA

Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease
- Rare immune disease
- Rare oncologic disease
- Rare skin disease
Classification (Orphanet):
- Rare genetic disease
- Rare otorhinolaryngologic disease

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Diseases of the ear and mastoid process -

Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: x-linked recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant

External references:
4 OMIM references -
1 MeSH reference: D014923
External references:
48 OMIM references -
No MeSH references

Wiskott-Aldrich syndrome

Very frequent
- Bruisability
- Chronic obstructive pulmonary disease / COPD / obstructive respiratory syndrome
- Chronic / relapsing otitis
- Fever / chilling
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Nasal congestion / sinusitis / rhinitis / rhinorrhea
- Platelets shape anomalies
- Purpura / petichiae
- Repeat respiratory infections
- Thrombocytopenia / thrombopenia
- X-linked recessive inheritance

Frequent
- Anaemia
- Asthenia / fatigue / weakness
- Autoimmunity / autoimmune reaction / autoantibodies
- Epistaxis / nose bleeding
- Gingivorrhagia / gingival bleeding
- Hematomas
- Hemolytic anemia
- Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding
- Inflammatory intestinal disease
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Microcytic anemia
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction

Occasional
- Arthritis / synovitis / synovial proliferation
- Cardiac rhythm disorder / arrhythmia
- Chronic skin infection / ulcerations / ulcers / cancrum
- Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis
- Collapse / sudden death / cardiac arrest / cardiorespiratory arrest
- Early death / lethality
- Encephalitis
- Hyperostosis
- Internal hemorrhage
- Intracranial / cerebral / meningeal hemorrhage
- Lung / pulmonary / alveolar hemorrhage / hematoma
- Lymphoma
- Meningitis / meningeal syndrome
- Metrorrhagia / menorrhagia / hemorrhagic cycles / hyper / poly / spanio / dysmenorrhea
- Mucosal / cutaneous hemorrhage
- Myeloproliferative syndrome / chronic leukemia
- Neoplasms / tumors
- Peripheral neuropathy
- Platelets function anomaly
- Polynuclear cells / neutrophils anomalies / neutropenia
- Renal disease / nephropathy
- Renal glomerular defect / glomerulopathy
- Sepsis severe / septicemia
- Thoracic / chest pain
- Thymic aplasia / hypoplasia
- Urticaria
- Vascularitis / vasculitides / arteritis


Autosomal dominant nonsyndromic sensorineural deafness type DFNA

(no data available)