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Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Giant cell arteritis

1 OMIM reference -
1 associated gene
57 signs/symptoms

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

Giant cell arteritis

CBL

(UniProt - OMIM)

PTPN22

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CBL	(0.74)	PTPN22

Citations in the biomedical literature:

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia		Giant cell arteritis
	Synonym(s): - CBL syndrome - Noonan syndrome-like disorder with JMML		Synonym(s): - Horton disease - Temporal arteritis

	Classification (Orphanet): - Rare cardiac disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare oncologic disease		Classification (Orphanet): - Rare circulatory system disease - Rare renal disease - Rare systemic or rheumatologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the musculoskeletal system and connective tissue -

	Epidemiological data: (no data available)		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 - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D013700

Giant cell arteritis
	Very frequent - Anorexia - Arterial pulse abolition - Asthenia / fatigue / weakness - Claudication / pain on mastication / while chewing - Facial pain / cephalalgia / migraine - Fever / chilling - Restricted joint mobility / joint stiffness / ankylosis - 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 - Chronic skin infection / ulcerations / ulcers / cancrum - 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
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
(no data available)