ODCs

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Wiskott-Aldrich syndrome

4 OMIM references -
2 associated genes
50 signs/symptoms

PROTEIN INTERACTIONS: 2
COMMON SIGNS: 4

Pyogenic arthritis - pyoderma gangrenosum - acne

1 OMIM reference -
1 associated gene
18 signs/symptoms

Wiskott-Aldrich syndrome

Pyogenic arthritis - pyoderma gangrenosum - acne

WAS	(UniProt - OMIM)		PSTPIP1	(UniProt - OMIM)
WIPF1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	WAS WIPF1	(0.97) (0.63)	PSTPIP1 PSTPIP1

Citations in the biomedical literature:

Wiskott-Aldrich syndrome		Pyogenic arthritis - pyoderma gangrenosum - acne
	Synonym(s): - Eczema-thrombocytopenia-immunodeficiency syndrome - WAS		Synonym(s): - FRA - Familial recurrent arthritis - PAPA syndrome

	Classification (Orphanet): - Rare genetic disease - Rare hematologic disease - Rare immune disease - Rare oncologic disease - Rare skin disease		Classification (Orphanet): - Rare genetic disease - Rare immune disease - Rare skin disease - Rare systemic or rheumatologic disease

	Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -		Classification (ICD10): (no data available)

	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 / 1 000 000 Average age onset: childhood 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


COMMON SIGNS	- Arthritis / synovitis / synovial proliferation - Asthenia / fatigue / weakness - Chronic skin infection / ulcerations / ulcers / cancrum - Fever / chilling

Wiskott-Aldrich syndrome		Pyogenic arthritis - pyoderma gangrenosum - acne
	Very frequent - Bruisability - Chronic obstructive pulmonary disease / COPD / obstructive respiratory syndrome - Chronic / relapsing otitis - 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 - 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 - Cardiac rhythm disorder / arrhythmia - 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		Very frequent - Acne / acnea - Autosomal dominant inheritance - Pustula / pustulosis - Restricted joint mobility / joint stiffness / ankylosis Frequent - Articular / joint pain / arthralgia - Lymphadenopathy / polyadenopathies - Monoclonal immunoglobulins / gammapathy / dysglobulinemia Occasional - Biological inflammatory syndrome / increased erythrocyte sedimentation rate / CRP - Bone marrow failure / pancytopenia - Functional colopathy / irritable bowel syndrome - Furuncle / cutaneous abscess / hidrosadenitis suppurativa - Insulin-dependent / type 1 diabetes - Myositis - Proteinuria