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Adult-onset distal myopathy due to VCP mutation

1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Alpha-1-antitrypsin deficiency

1 OMIM reference -
1 associated gene
6 signs/symptoms

Adult-onset distal myopathy due to VCP mutation

Alpha-1-antitrypsin deficiency

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	VCP	(0.63)	SERPINA1

Citations in the biomedical literature:

Adult-onset distal myopathy due to VCP mutation		Alpha-1-antitrypsin deficiency

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare hepatic disease - Rare renal disease - Rare respiratory disease

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	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: 1-5 / 10 000 Average age onset: variable Average age of death: - Type of inheritance: autosomal recessive

	External references: No OMIM references No MeSH references		External references: 1 OMIM reference - 2 MeSH references: C531610 / D019896

Alpha-1-antitrypsin deficiency
	Very frequent - Autosomal recessive inheritance - Emphysema - Hepatocellular liver disease / hepatic failure Frequent - Hepatitis / icterus / cholestasis - Hepatomegaly / liver enlargement (excluding storage disease) Occasional - Nephrotic syndrome
Adult-onset distal myopathy due to VCP mutation
(no data available)