Cytoscape Web
Click node...


4 OMIM references -
2 associated genes
50 signs/symptoms
PROTEIN INTERACTIONS: 3
COMMON SIGNS: 2
39 OMIM references -
38 associated genes
13 signs/symptoms
Wiskott-Aldrich syndrome
Familial isolated dilated cardiomyopathy

WAS ABCC9
WIPF1 ACTC1
ACTN2
BAG3
CRYAB
CSRP3
DES
DMD
DOLK
DSG2
FHL2
FKTN
GATAD1
LAMA4
LDB3
MYBPC3
MYH6
MYH7
MYPN
NEXN
PLN
PRDM16
PSEN1
PSEN2
RBM20
SCN5A
SDHA
SGCD
TAZ
TCAP
TMPO
TNNC1
TNNI3
TNNT2
TPM1
TTN
TXNRD2
VCL


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
WIPF1
WAS
WIPF1
(0.63)
(0.62)
(0.62)
BAG3
ACTC1
ACTC1



Citations in the biomedical literature:


Wiskott-Aldrich syndrome
WAS WIPF1
Familial isolated dilated cardiomyopathy
ABCC9 ACTC1 ACTN2 BAG3 CRYAB CSRP3
DES DMD DOLK DSG2 FHL2 FKTN
GATAD1 LAMA4 LDB3 MYBPC3 MYH6 MYH7
MYPN NEXN PLN PRDM16 PSEN1 PSEN2
RBM20 SCN5A SDHA SGCD TAZ TCAP
TMPO TNNC1 TNNI3 TNNT2 TPM1 TTN
TXNRD2 VCL



Wiskott-Aldrich syndrome
Familial isolated dilated cardiomyopathy

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

Synonym(s):
- Familial or idiopathic dilated cardiomyopathy

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

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Diseases of the circulatory 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: 1-5 / 10 000
Average age onset: variable
Average age of death: any age
Type of inheritance: autosomal dominant

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


COMMON
SIGNS
- Polynuclear cells / neutrophils anomalies / neutropenia
- X-linked recessive inheritance


Wiskott-Aldrich syndrome
Familial isolated dilated cardiomyopathy

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

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
- Renal disease / nephropathy
- Renal glomerular defect / glomerulopathy
- Sepsis severe / septicemia
- Thoracic / chest pain
- Thymic aplasia / hypoplasia
- Urticaria
- Vascularitis / vasculitides / arteritis


Very frequent
- Autosomal dominant inheritance
- Cardiomyopathy / hypertrophic / dilated

Occasional
- Abnormal EMG / electromyogram / electropmyography
- Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase
- Autosomal recessive inheritance
- Lipoatrophy
- Myopathy
- Palmoplantar hyperkeratosis / keratoderma
- Sensorineural deafness / hearing loss
- Stillbirth / neonatal death
- X-linked dominant inheritance