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Adult-onset distal myopathy due to VCP mutation

1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Enchondromatosis

1 OMIM reference -
3 associated genes
21 signs/symptoms

Adult-onset distal myopathy due to VCP mutation

Enchondromatosis

VCP	(UniProt - OMIM)		IDH1	(UniProt - OMIM)
			IDH2	(UniProt - OMIM)
			PTH1R	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	VCP	(0.63)	IDH1

Citations in the biomedical literature:

Adult-onset distal myopathy due to VCP mutation		Enchondromatosis
	Synonym(s): (no synonyms)		Synonym(s): - Ollier disease

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare oncologic disease

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

	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: 1-9 / 100 000 Average age onset: childhood Average age of death: - Type of inheritance: sporadic

	External references: No OMIM references No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D004687

Enchondromatosis
	Very frequent - Anomalies of cartilages, joints and periarticular tissue - Bone tumefaction / swelling - Cavernous / tuberous hemangioma - Metaphyseal anomaly - Osteolysis / osteoclasia / bone destruction / erosions - Short limbs / micromelia / brachymelia - Visceral angiomatosis (excluding skin) Frequent - Bone pain - Restricted joint mobility / joint stiffness / ankylosis - Subcutaneous nodules / lipomas / tumefaction / swelling Occasional - Anaemia - Bone / osseous neoplasm / tumor / carcinoma / cancer - Chronic skin infection / ulcerations / ulcers / cancrum - Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding - Lymphangioma / lymphatic malformations - Neoplasms / tumors - Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma) - Platyspondyly - Precocious puberty - Sarcoma - Venous thrombosis / phlebitis / thrombophlebitis
Adult-onset distal myopathy due to VCP mutation
(no data available)