Details of Disease | DrugMAP

General Information of Disease (ID: DISV2K69)

Disease Name	Multisystemic smooth muscle dysfunction syndrome
Synonyms	congenital mydriasis, patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy; mydriasis, congenital, with patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy; multisystemic smooth muscle dysfunction syndrome
Definition	Multisystemic smooth muscle dysfunction syndrome is a disease in which the activity of smooth muscle throughout the body is impaired. This leads to widespread problems including blood vessel abnormalities, a decreased response of the pupils to light, a weak bladder, and weakened contractions of the muscles used for the digestion of food (hypo peristalsis). A certain mutation in the ACTA2 gene has been shown to cause this condition insome individuals.
Disease Hierarchy	DISYKSRF: Genetic disease DISBI73X: Intestinal motility disease DISVS67S: Vascular disease DISV2K69: Multisystemic smooth muscle dysfunction syndrome
Disease Identifiers	MONDO ID MONDO_0013452 UMLS CUI C3151201 OMIM ID 613834 MedGen ID 462551 Orphanet ID 404463 SNOMED CT ID 782724001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
COL5A2	OT5VOSQE	Strong	Biomarker	[1]
STAMBPL1	OTI4CYTF	Strong	CausalMutation	[2]
ACTA2	OTEDLG8E	Definitive	Autosomal dominant	[3]
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References

1	Targeted genetic analysis in a large cohort of familial and sporadic cases of aneurysm or dissection of the thoracic aorta.Genet Med. 2018 Nov;20(11):1414-1422. doi: 10.1038/gim.2018.27. Epub 2018 Mar 15.
2	Neonatal stroke and progressive leukoencephalopathy in a child with an ACTA2 mutation.J Child Neurol. 2013 Apr;28(4):531-4. doi: 10.1177/0883073812446631. Epub 2012 Jun 29.
3	Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations. Genet Med. 2018 Oct;20(10):1206-1215. doi: 10.1038/gim.2017.245. Epub 2018 Jan 4.