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Granulomatosis with polyangiitis
1 OMIM reference -
4 associated genes
66 signs/symptoms
COMMON GENES: 1
COMMON SIGNS: 25
Giant cell arteritis
1 OMIM reference -
1 associated gene
57 signs/symptoms
Granulomatosis with polyangiitis
Giant cell arteritis

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

COMMON
GENES 		PTPN22


Citations in the biomedical literature:


Granulomatosis with polyangiitis
CTLA4 HLA-DPB1 PRTN3 PTPN22
Giant cell arteritis



Granulomatosis with polyangiitis
Giant cell arteritis

Synonym(s):
- GPA
- Wegener granulomatosis
Synonym(s):
- Horton disease
- Temporal arteritis
Classification (Orphanet):
- Rare neurologic disease
- Rare renal disease
- Rare respiratory disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Rare circulatory system disease
- Rare renal disease
- Rare systemic or rheumatologic disease
Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -
Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -
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: unknown
Average age onset: adulthood
Average age of death: normal
Type of inheritance: multigenic/multifactorial
External references:
1 OMIM reference -
1 MeSH reference: D014890
External references:
1 OMIM reference -
1 MeSH reference: D013700
COMMON
SIGNS 		- Abnormal pleura / hydrothorax / pleuresia / pleural effusion / chylothorax
- Acute abdominal pain / colic
- Angor pectoris / myocardial infarction
- Articular / joint pain / arthralgia
- Asthenia / fatigue / weakness
- Biological inflammatory syndrome / increased erythrocyte sedimentation rate / CRP
- Cardiac rhythm disorder / arrhythmia
- Chronic skin infection / ulcerations / ulcers / cancrum
- Cough
- Diabetes insipidus
- Epistaxis / nose bleeding
- Facial pain / cephalalgia / migraine
- Fever / chilling
- Gangrena / necrosis
- Hematuria / microhematuria
- Meningitis / meningeal syndrome
- Myalgia / muscular pain
- Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness
- Pericardium anomalies / pericarditis / absence / cysts / pericardial effusion
- Peripheral neuropathy
- Renal failure
- Transient cerebral ischemia / stroke
- Vascularitis / vasculitides / arteritis
- Visual loss / blindness / amblyopia
- Weight loss / loss of appetite / break in weight curve / general health alteration

Granulomatosis with polyangiitis
Giant cell arteritis

Very frequent
- Anomalies of nose and olfaction
- Autoimmunity / autoimmune reaction / autoantibodies
- Enanthema / aphtosa / aphta / leukoplakia
- Ground-glass / reticular / alveolar / interstitial lung / pulmonary opacity
- Nasal congestion / sinusitis / rhinitis / rhinorrhea
- Renal glomerular defect / glomerulopathy
- Repeat respiratory infections

Frequent
- Chronic obstructive pulmonary disease / COPD / obstructive respiratory syndrome
- Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis
- Cutaneous rash
- Follicular / erythematous / edematous papules / milium
- Hemoptysis
- Hypothalamic-hypophyseal axis anomalies / hypothalamus / pituitary anomalies
- Lung fibrosis
- Lung / pulmonary infiltrates
- Lung / pulmonary / alveolar hemorrhage / hematoma
- Nausea / vomiting / regurgitation / merycism / hyperemesis
- Neuritis / polyneuritis / multineuritis
- Palpebral edema / periorbital edema
- Proteinuria
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Thoracic / chest pain

Occasional
- Chronic arterial hypertension
- Chronic / relapsing otitis
- Cranial nerves palsy
- 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
- Pancreatitis
- Proptosis / exophthalmos
- Prostatic inflammation / prostatitis
- Purpura / petichiae
- Retinopathy
- Seizures / epilepsy / absences / spasms / status epilepticus
- Sensitive trouble / deficit
- Sensorineural deafness / hearing loss
- Ureteral stenosis / narrowing
- Venous thrombosis / phlebitis / thrombophlebitis


Very frequent
- Anorexia
- Arterial pulse abolition
- Claudication / pain on mastication / while chewing
- Restricted joint mobility / joint stiffness / ankylosis

Frequent
- Alopecia
- Arthritis / synovitis / synovial proliferation
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Ophthalmoplegia / ophthalmoparesis / oculomotor palsy

Occasional
- Acrocyanosis / Raynaud's phenomenon / vasomotor disorders
- Acute ischemic syndrome
- Aortic dissection
- Aortic root dilatation / dilation / aneurysm
- Arterial embolism / thrombosis
- Ataxia / incoordination / trouble of the equilibrium
- Collapse / sudden death / cardiac arrest / cardiorespiratory arrest
- Conductive deafness / hearing loss
- Diplopia / double vision
- Dizziness
- Glossitis
- Hearing loss / hypoacusia / deafness
- Hepatocellular liver disease / hepatic failure
- Hyperesthesia / allodynia / hyperalgia
- Hyperhidrosis / increased sweating
- Mediastinal / hilar adenopathies
- Mesenteric / intestinal infarction
- Muscle weakness / flaccidity
- Nystagmus
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Pharyngitis
- Platelet disorders / thrombopathies
- Ptosis
- Transient amaurosis / acute visual trouble