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Wiskott-Aldrich syndrome
4 OMIM references -
2 associated genes
40 connected diseases
50 signs/symptoms
Disease Type of connection
X-linked severe congenital neutropenia
X-linked thrombocytopenia with normal platelets
Familial isolated dilated cardiomyopathy
Pyogenic arthritis - pyoderma gangrenosum - acne
Distal 22q11.2 microdeletion syndrome
Atrial septal defect, ostium secundum type
Left ventricular noncompaction
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
X-linked agammaglobulinemia
Autosomal agammaglobulinemia
SHORT syndrome
Autosomal recessive lymphoproliferative disease
Severe combined immunodeficiency due to LCK deficiency
Giant cell glioblastoma
Gliosarcoma
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes
Giant cell arteritis
Granulomatosis with polyangiitis
Juvenile rheumatoid factor-negative polyarthritis
Oligoarticular juvenile arthritis
Pediatric systemic lupus erythematosus
T-B+ severe combined immunodeficiency due to CD45 deficiency
Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
Autosomal dominant Charcot-Marie-Tooth disease type 2M
Autosomal dominant centronuclear myopathy
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
Burkitt lymphoma
Fetal akinesia-cerebral and retinal hemorrhage syndrome
Juvenile myelomonocytic leukemia
Muscular dystrophy, Selcen type
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Precursor T-cell acute lymphoblastic leukemia
Young adult-onset Parkinsonism
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Baraitser-Winter syndrome
Neutrophil immunodeficiency syndrome
Combined immunodeficiency due to ZAP70 deficiency
Synonym(s):
- Eczema-thrombocytopenia-immunodeficiency syndrome
- WAS
Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease
- Rare immune disease
- Rare oncologic disease
- Rare skin disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
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
External references:
4 OMIM references -
1 MeSH reference: D014923
Gene symbol UniProt reference OMIM reference
WAS P42768300392
WIPF1 O43516602357
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