Visceral myopathy 1

Preferred Label : Visceral myopathy 1;

Symbol : VSCM1;

CISMeF acronym : MMIH; VSCM;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Pseudoobstruction, idiopathic intestinal; VSCM; Megaduodenum and/or megacystis; Visceral myopathy;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the enteric smooth muscle actin gamma-2 gene (ACTG2, 102545.0001);

Prefixed ID : #155310;

Détails

Origin ID

155310;

UMLS CUI

C5542197;

Automatic exact mappings (from CISMeF team)
- ACTG2 wt Allele [NCIt concept]
- Berdon's syndrome [MedDRA Preferred Term]
- Megacystis - microcolon - intestinal hypoperistalsis - hydronephrosis [ICD-11 More detail]
- Megacystis, microcolon, hypoperistalsis syndrome (disorder) [SNOMED CT concept]
- Megacystis-microcolon-intestinal hypoperistalsis syndrome [ORDO Disease]
- Megaduodenum and-or Megacystis [MeSH concept]
- Megaduodenum and-or Megacystis [MeSH Supplementary Concept]
- intestinal pseudo-obstruction [MeSH Descriptor]
- megacystis microcolon intestinal hypoperistalsis syndrome [MeSH Supplementary Concept]
- megacystis-microcolon-intestinal hypoperistalsis syndrome [DO Concept]
- visceral neuropathy, familial, autosomal dominant [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- visceral myopathy [MeSH concept]
DO Cross reference
- megacystis-microcolon-intestinal hypoperistalsis syndrome [DO Concept]
Genes related to phenotype
- Actin, gamma-2, smooth muscle, enteric [OMIM gene]
HPO term(s)
- Abdominal distention [HPO term]
- Abdominal pain [HPO term]
- Aganglionic megacolon [HPO term]
- Autosomal dominant inheritance [HPO term]
- Constipation [HPO term]
- Diarrhea [HPO term]
- Dysphagia [HPO term]
- Gastroparesis [HPO term]
- Hydronephrosis [HPO term]
- Intestinal pseudo-obstruction [HPO term]
- Malnutrition [HPO term]
- Megacystis [HPO term]
- Megaduodenum [HPO term]
- Microcolon [HPO term]
- Pancreatitis [HPO term]
- Polyhydramnios [HPO term]
- Urinary retention [HPO term]
- Vesicoureteral reflux [HPO term]
- Vomiting [HPO term]
ORDO concept(s)
- Familial visceral myopathy [ORDO Disease]
See also inter- (CISMeF)
- Hereditary hollow viscus myopathy (disorder) [SNOMED CT concept]
- visceral myopathy, familial [MeSH concept]
- visceral myopathy, familial [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Visceral Myopathy 1 [NCIt concept]
- visceral myopathy [MeSH concept]
Validated automatic mappings to BTNT
- Familial visceral myopathy [ORDO Disease]

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