Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
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Preferred Name

VISCERAL MYOPATHY 1
Synonyms

VSCM1

MEGADUODENUM AND/OR MEGACYSTIS

VSCM

VISCERAL MYOPATHY

PSEUDOOBSTRUCTION, IDIOPATHIC INTESTINAL
ID

http://purl.bioontology.org/ontology/OMIM/155310
altLabel

VSCM1

MEGADUODENUM AND/OR MEGACYSTIS

VSCM

VISCERAL MYOPATHY

PSEUDOOBSTRUCTION, IDIOPATHIC INTESTINAL
cui

C1835084

C0042781

C1864996

C5542197
Gene Locus

2p13.1
Gene Symbol

ACTG2

MMIHS5

VSCM1

ACTA3
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU045187

http://purl.bioontology.org/ontology/OMIM/MTHU045178

http://purl.bioontology.org/ontology/OMIM/MTHU045176

http://purl.bioontology.org/ontology/OMIM/MTHU008370

http://purl.bioontology.org/ontology/OMIM/MTHU045189

http://purl.bioontology.org/ontology/OMIM/MTHU045185

http://purl.bioontology.org/ontology/OMIM/MTHU045184

http://purl.bioontology.org/ontology/OMIM/MTHU004590

http://purl.bioontology.org/ontology/OMIM/MTHU006664

http://purl.bioontology.org/ontology/OMIM/MTHU045182

http://purl.bioontology.org/ontology/OMIM/MTHU045192

http://purl.bioontology.org/ontology/OMIM/MTHU026060

http://purl.bioontology.org/ontology/OMIM/MTHU001907

http://purl.bioontology.org/ontology/OMIM/MTHU000226

http://purl.bioontology.org/ontology/OMIM/MTHU045177

http://purl.bioontology.org/ontology/OMIM/MTHU067263

http://purl.bioontology.org/ontology/OMIM/MTHU045190

http://purl.bioontology.org/ontology/OMIM/MTHU045188

http://purl.bioontology.org/ontology/OMIM/MTHU058258

http://purl.bioontology.org/ontology/OMIM/MTHU003881

http://purl.bioontology.org/ontology/OMIM/MTHU000225

http://purl.bioontology.org/ontology/OMIM/MTHU045186

http://purl.bioontology.org/ontology/OMIM/MTHU045179

http://purl.bioontology.org/ontology/OMIM/MTHU045191

http://purl.bioontology.org/ontology/OMIM/MTHU067264

http://purl.bioontology.org/ontology/OMIM/MTHU023587

http://purl.bioontology.org/ontology/OMIM/MTHU067265

http://purl.bioontology.org/ontology/OMIM/MTHU045181
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

155310
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

VISCERAL MYOPATHY 1
Scope Statement

De novo mutation (in some patients) [MISCELLANEOUS]

Caused by mutation in the enteric smooth muscle actin gamma-2 gene (ACTG2, 102545.0001) [MOLECULAR BASIS]

Marked inter- and intrafamilial variability, ranging from prenatal onset with severe symptoms to asymptomatic affected individuals [MISCELLANEOUS]
tui

T047
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