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Adult-onset distal myopathy due to VCP mutation

1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 2

Essential thrombocythemia

3 OMIM references -
5 associated genes
17 signs/symptoms

Adult-onset distal myopathy due to VCP mutation

Essential thrombocythemia

VCP	(UniProt - OMIM)		CALR	(UniProt - OMIM)
			JAK2	(UniProt - OMIM)
			MPL	(UniProt - OMIM)
			TET2	(UniProt - OMIM)
			TP53	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	VCP VCP	(0.73) (0.55)	TP53 JAK2

Citations in the biomedical literature:

Adult-onset distal myopathy due to VCP mutation		Essential thrombocythemia
	Synonym(s): (no synonyms)		Synonym(s): - ET - Essential thrombocytosis

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare hematologic disease - Rare oncologic disease

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Neoplasms -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: adulthood Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: 1-5 / 10 000 Average age onset: adulthood Average age of death: normal Type of inheritance: sporadic

	External references: No OMIM references No MeSH references		External references: 3 OMIM references - 1 MeSH reference: D013920

Essential thrombocythemia
	Very frequent - Acute ischemic syndrome - Angor pectoris / myocardial infarction - Arterial embolism / thrombosis - Bone marrow anomalies - Cerebral vascular anomalies - Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding - Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness - Platelet disorders / thrombopathies - Platelets shape anomalies - Thoracic / chest pain - Transient amaurosis / acute visual trouble - Transient cerebral ischemia / stroke - Venous thrombosis / phlebitis / thrombophlebitis Frequent - Splenomegaly Occasional - Acute leukemia - Myelodysplastic syndrome - Myeloproliferative syndrome / chronic leukemia
Adult-onset distal myopathy due to VCP mutation
(no data available)