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Adult-onset distal myopathy due to VCP mutation

1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

ALDH18A1-related De Barsy syndrome

1 OMIM reference -
1 associated gene
4 signs/symptoms

Adult-onset distal myopathy due to VCP mutation

ALDH18A1-related De Barsy syndrome

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	VCP	(0.63)	ALDH18A1

Citations in the biomedical literature:

Adult-onset distal myopathy due to VCP mutation		ALDH18A1-related De Barsy syndrome
	Synonym(s): (no synonyms)		Synonym(s): - Delta-1-pyrroline 5-carboxylate synthetase deficiency - Neurocutaneous syndrome, Bicknell type - P5CS deficiency

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare skin disease - Rare surgical thoracic 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: no data available Type of inheritance: autosomal recessive

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

ALDH18A1-related De Barsy syndrome
	Very frequent - Cataract / lens opacification - Hyperelastic skin / cutaneous hyperlaxity - Hyperextensible joints / articular hyperlaxity - Intellectual deficit / mental / psychomotor retardation / learning disability
Adult-onset distal myopathy due to VCP mutation
(no data available)