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4 OMIM references -
2 associated genes
50 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Wiskott-Aldrich syndrome
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B

WAS DNM2
WIPF1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
WAS
(0.63)
DNM2



Citations in the biomedical literature:


Wiskott-Aldrich syndrome
WAS WIPF1
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
DNM2



Wiskott-Aldrich syndrome
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B

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

Synonym(s):
- CMTDIB

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

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Diseases of the nervous system -

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: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant

External references:
4 OMIM references -
1 MeSH reference: D014923
External references:
1 OMIM reference -
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 intermediate Charcot-Marie-Tooth disease type B

(no data available)