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Adult-onset distal myopathy due to VCP mutation

1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

17q11.2 microduplication syndrome

1 OMIM reference -
1 associated gene
17 signs/symptoms

Adult-onset distal myopathy due to VCP mutation

17q11.2 microduplication syndrome

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	VCP	(0.68)	NF1

Citations in the biomedical literature:

Adult-onset distal myopathy due to VCP mutation		17q11.2 microduplication syndrome
	Synonym(s): (no synonyms)		Synonym(s): - Dup(17)(q11.2) - Grisart-DestrÃ©e syndrome - Trisomy 17q11.2

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - 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: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

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

17q11.2 microduplication syndrome
	Very frequent - Total / partial trisomy / duplication Frequent - Alopecia - Enamel anomaly - Intellectual deficit / mental / psychomotor retardation / learning disability - Microcephaly - Short stature / dwarfism / nanism Occasional - Absent / decreased lashes - Absent / decreased / thin eyebrows - Bifid tip / cleft nose / supernumerary nose - Flared / thick ala nasi - Flat cheek bones / malar hypoplasia - Long midface - Macroorchidism / macrotestes - Nasal septum deviation - Seizures / epilepsy / absences / spasms / status epilepticus - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Thin / retracted lips
Adult-onset distal myopathy due to VCP mutation
(no data available)