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Adult-onset distal myopathy due to VCP mutation

1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
12 signs/symptoms

Adult-onset distal myopathy due to VCP mutation

MMEP syndrome

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	VCP	(0.63)	SNX3

Citations in the biomedical literature:

Adult-onset distal myopathy due to VCP mutation		MMEP syndrome
	Synonym(s): (no synonyms)		Synonym(s): - MCOPS8 - Microcephaly - microphthalmia - ectrodactyly of lower limbs - prognathism - Syndromic microphthalmia type 8 - Viljoen-Smart syndrome

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic 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: (no data available)

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

MMEP syndrome
	Very frequent - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Cleft lip and palate - Intellectual deficit / mental / psychomotor retardation / learning disability - Median cleft lip - Microcephaly - Oligodactyly / ectrodactyly of toes - Prognathism / prognathia Frequent - Fingerlike / triphalangeal thumb - Undescended / ectopic testes / cryptorchidia / unfixed testes - Visual loss / blindness / amblyopia Occasional - Chromosomal or genetic anomaly - Ventricular septal defect / interventricular communication
Adult-onset distal myopathy due to VCP mutation
(no data available)