ODCs

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Granulomatosis with polyangiitis

1 OMIM reference -
4 associated genes
66 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 19

Wiskott-Aldrich syndrome

4 OMIM references -
2 associated genes
50 signs/symptoms

Granulomatosis with polyangiitis

Wiskott-Aldrich syndrome

CTLA4	(UniProt - OMIM)	WAS	(UniProt - OMIM)
HLA-DPB1	(UniProt - OMIM)	WIPF1	(UniProt - OMIM)
PRTN3	(UniProt - OMIM)
PTPN22	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PTPN22	(0.68)	WAS

Citations in the biomedical literature:

Granulomatosis with polyangiitis		Wiskott-Aldrich syndrome
	Synonym(s): - GPA - Wegener granulomatosis		Synonym(s): - Eczema-thrombocytopenia-immunodeficiency syndrome - WAS

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

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

	Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: variable Average age of death: - Type of inheritance: sporadic		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: 1 OMIM reference - 1 MeSH reference: D014890		External references: 4 OMIM references - 1 MeSH reference: D014923


COMMON SIGNS	- Asthenia / fatigue / weakness - Autoimmunity / autoimmune reaction / autoantibodies - Cardiac rhythm disorder / arrhythmia - Chronic obstructive pulmonary disease / COPD / obstructive respiratory syndrome - Chronic skin infection / ulcerations / ulcers / cancrum - Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis - Chronic / relapsing otitis - Epistaxis / nose bleeding - Fever / chilling - Lung / pulmonary / alveolar hemorrhage / hematoma - Meningitis / meningeal syndrome - Nasal congestion / sinusitis / rhinitis / rhinorrhea - Peripheral neuropathy - Purpura / petichiae - Renal glomerular defect / glomerulopathy - Repeat respiratory infections - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Thoracic / chest pain - Vascularitis / vasculitides / arteritis

Granulomatosis with polyangiitis		Wiskott-Aldrich syndrome
	Very frequent - Anomalies of nose and olfaction - Articular / joint pain / arthralgia - Enanthema / aphtosa / aphta / leukoplakia - Ground-glass / reticular / alveolar / interstitial lung / pulmonary opacity - Hematuria / microhematuria - Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness - Transient cerebral ischemia / stroke - Weight loss / loss of appetite / break in weight curve / general health alteration Frequent - Acute abdominal pain / colic - Biological inflammatory syndrome / increased erythrocyte sedimentation rate / CRP - Cough - Cutaneous rash - Follicular / erythematous / edematous papules / milium - Hemoptysis - Hypothalamic-hypophyseal axis anomalies / hypothalamus / pituitary anomalies - Lung fibrosis - Lung / pulmonary infiltrates - Nausea / vomiting / regurgitation / merycism / hyperemesis - Neuritis / polyneuritis / multineuritis - Palpebral edema / periorbital edema - Proteinuria Occasional - Abnormal pleura / hydrothorax / pleuresia / pleural effusion / chylothorax - Angor pectoris / myocardial infarction - Chronic arterial hypertension - Cranial nerves palsy - Diabetes insipidus - Facial pain / cephalalgia / migraine - Gangrena / necrosis - Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia - Hemiplegia / diplegia / hemiparesia / limb palsy - Interstitial / restrictive pneumopathy / restrictive respiratory syndrome - Intestinal obstruction / ileus - Intestinal perforation - Megaureter / hydronephrosis / pyeloureteral junction syndrome - Myalgia / muscular pain - Pancreatitis - Pericardium anomalies / pericarditis / absence / cysts / pericardial effusion - Proptosis / exophthalmos - Prostatic inflammation / prostatitis - Renal failure - Retinopathy - Seizures / epilepsy / absences / spasms / status epilepticus - Sensitive trouble / deficit - Sensorineural deafness / hearing loss - Ureteral stenosis / narrowing - Venous thrombosis / phlebitis / thrombophlebitis - Visual loss / blindness / amblyopia		Very frequent - Bruisability - Immunodeficiency / increased susceptibility to infections / recurrent infections - Platelets shape anomalies - Thrombocytopenia / thrombopenia - X-linked recessive inheritance Frequent - Anaemia - 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 Occasional - Arthritis / synovitis / synovial proliferation - Collapse / sudden death / cardiac arrest / cardiorespiratory arrest - Early death / lethality - Encephalitis - Hyperostosis - Internal hemorrhage - Intracranial / cerebral / meningeal hemorrhage - Lymphoma - Metrorrhagia / menorrhagia / hemorrhagic cycles / hyper / poly / spanio / dysmenorrhea - Mucosal / cutaneous hemorrhage - Myeloproliferative syndrome / chronic leukemia - Neoplasms / tumors - Platelets function anomaly - Polynuclear cells / neutrophils anomalies / neutropenia - Renal disease / nephropathy - Sepsis severe / septicemia - Thymic aplasia / hypoplasia - Urticaria