Hereditary hollow viscus myopathy

MedGen UID:: 120590
•Concept ID:: C0266833
•: Disease or Syndrome

Synonym:	Familial visceral myopathy
SNOMED CT:	Hereditary hollow viscus myopathy (63684002); Familial visceral myopathy (63684002)
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal dominant inheritance (Orphanet)

Related gene: Gene(s) associated with related conditions. For conditions in a hierarchy, the parent condition will list the genes associated with the children conditions.	ACTG2

Monarch Initiative:	MONDO:0016829
Orphanet:	ORPHA2604

Definition

A rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhea, dysphagia, and/or urinary tract infections. [from SNOMEDCT_US]