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Giant cell arteritis

1 OMIM reference -
1 associated gene
57 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

Infantile myofibromatosis

2 OMIM references -
2 associated genes
31 signs/symptoms

Giant cell arteritis

Infantile myofibromatosis

PTPN22	(UniProt - OMIM)		NOTCH3	(UniProt - OMIM)
			PDGFRB	(UniProt - OMIM)


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

Citations in the biomedical literature:

Giant cell arteritis		Infantile myofibromatosis
	Synonym(s): - Horton disease - Temporal arteritis		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare circulatory system disease - Rare renal disease - Rare systemic or rheumatologic disease		Classification (Orphanet): - Rare genetic disease - Rare neurologic disease - Rare oncologic disease - Rare skin disease

	Classification (ICD10): - Diseases of the musculoskeletal system and connective tissue -		Classification (ICD10): - Neoplasms -

	Epidemiological data: Class of prevalence: unknown Average age onset: adulthood Average age of death: normal Type of inheritance: multigenic/multifactorial		Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: D013700		External references: 2 OMIM references - No MeSH references


COMMON SIGNS	- Chronic skin infection / ulcerations / ulcers / cancrum - Restricted joint mobility / joint stiffness / ankylosis

Giant cell arteritis		Infantile myofibromatosis
	Very frequent - Anorexia - Arterial pulse abolition - Asthenia / fatigue / weakness - Claudication / pain on mastication / while chewing - Facial pain / cephalalgia / migraine - Fever / chilling - Transient cerebral ischemia / stroke - Vascularitis / vasculitides / arteritis - Weight loss / loss of appetite / break in weight curve / general health alteration Frequent - Alopecia - Arthritis / synovitis / synovial proliferation - Biological inflammatory syndrome / increased erythrocyte sedimentation rate / CRP - Humour troubles / anxiety / depression / apathy / euphoria / irritability - Ophthalmoplegia / ophthalmoparesis / oculomotor palsy Occasional - Abnormal pleura / hydrothorax / pleuresia / pleural effusion / chylothorax - Acrocyanosis / Raynaud's phenomenon / vasomotor disorders - Acute abdominal pain / colic - Acute ischemic syndrome - Angor pectoris / myocardial infarction - Aortic dissection - Aortic root dilatation / dilation / aneurysm - Arterial embolism / thrombosis - Articular / joint pain / arthralgia - Ataxia / incoordination / trouble of the equilibrium - Cardiac rhythm disorder / arrhythmia - Collapse / sudden death / cardiac arrest / cardiorespiratory arrest - Conductive deafness / hearing loss - Cough - Diabetes insipidus - Diplopia / double vision - Dizziness - Epistaxis / nose bleeding - Gangrena / necrosis - Glossitis - Hearing loss / hypoacusia / deafness - Hematuria / microhematuria - Hepatocellular liver disease / hepatic failure - Hyperesthesia / allodynia / hyperalgia - Hyperhidrosis / increased sweating - Mediastinal / hilar adenopathies - Meningitis / meningeal syndrome - Mesenteric / intestinal infarction - Muscle weakness / flaccidity - Myalgia / muscular pain - Nystagmus - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness - Pericardium anomalies / pericarditis / absence / cysts / pericardial effusion - Peripheral neuropathy - Pharyngitis - Platelet disorders / thrombopathies - Ptosis - Renal failure - Transient amaurosis / acute visual trouble - Visual loss / blindness / amblyopia		Very frequent - Autosomal dominant inheritance - Bone cyst - Bone / osseous neoplasm / tumor / carcinoma / cancer - Fibromatosis / bone fibroma - Metaphyseal anomaly - Muscle anomalies - Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma - Subcutaneous nodules / lipomas / tumefaction / swelling Frequent - Anomalies of chest / thorax / trunk - Face / facial anomalies - Intestinal / colonic anomaly - Lung / bronchopulmonary neoplasm / tumor / carcinoma / cancer - Periarticular tissue anomaly / extraarticular calcifications - Skull / cranial anomalies - Thickened / hypertrophic / fibromatous gingivae Occasional - Anomalies of eyes and vision - Anomalies of spine, vertebrae and pelvis - Autosomal recessive inheritance - Benign tumor of the brain / nervous system - Early death / lethality - Hemiplegia / diplegia / hemiparesia / limb palsy - Hypercalcemia - Intestinal obstruction / ileus - Irregular / in bands / reticular skin hyperpigmentation - Osteolysis / osteoclasia / bone destruction / erosions - Pancreatic / pancreas neoplasm / tumor / carcinoma / cancer - Renal / kidney anomalies - Sacro-coccyx / sacrum anomaly - Tracheo-esophageal fistula / esophageal atresia / stenosis