ODCs

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1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
26 signs/symptoms

Adult-onset distal myopathy due to VCP mutation

X-linked dominant chondrodysplasia, Chassaing-Lacombe type


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	VCP	(0.62)	HDAC6

Citations in the biomedical literature:

Adult-onset distal myopathy due to VCP mutation		X-linked dominant chondrodysplasia, Chassaing-Lacombe type
	Synonym(s): (no synonyms)		Synonym(s): - X-linked dominant chondrodysplasia - hydrocephaly - microphthalmia

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

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): (no data available)

	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: x-linked dominant

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

X-linked dominant chondrodysplasia, Chassaing-Lacombe type
	Very frequent - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Flattened nose - Frontal bossing / prominent forehead - Hydrocephaly - Low set ears / posteriorly rotated ears - Metacarpal anomalies / Archibald's sign - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Platyspondyly - Rhizomelic micromelia - Short foot / brachydactyly of toes - Short hand / brachydactyly - Short stature / dwarfism / nanism - Short / small nose - X-linked dominant inheritance Frequent - Ankle anomalies - Asymmetry of the body / hemiatrophy / hemihyperthrophy - Death in infancy - Intellectual deficit / mental / psychomotor retardation / learning disability - Intrauterine growth retardation - Rib structure anomalies Occasional - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Macrostomia / big mouth - Micrognathia / retrognathia / micrognathism / retrognathism - Short philtrum
Adult-onset distal myopathy due to VCP mutation
(no data available)