Multisystemic smooth muscle dysfunction syndrome

Preferred Label : Multisystemic smooth muscle dysfunction syndrome;

Symbol : MSMDS;

CISMeF acronym : MSMDS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mydriasis, congenital, with patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the actin, alpha-2, smooth muscle, aorta gene (ACTA2, 102620.0004);

Prefixed ID : #613834;

Details

Origin ID

613834;

UMLS CUI

C3151201;

Currated CISMeF NLP mapping
- Multisystemic smooth muscle dysfunction syndrome [ORDO Disease]
- Multisystemic smooth muscle dysfunction syndrome (disorder) [SNOMED CT concept]
Genes related to phenotype
- Actin, alpha-2, smooth muscle, aorta [OMIM gene]
HPO term(s)
- Abnormal aortic morphology [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cryptorchidism [HPO term]
- Dilatation of the cerebral artery [HPO term]
- Hyperperistalsis [HPO term]
- Hypertension [HPO term]
- Intestinal malrotation [HPO term]
- Mydriasis [HPO term]
- Patent ductus arteriosus [HPO term]
- Periventricular white matter hyperintensities [HPO term]
- Pulmonary arterial hypertension [HPO term]
- Retinal infarction [HPO term]
- Tachypnea [HPO term]
- Thoracic aortic aneurysm [HPO term]
- Vascular dilatation [HPO term]
ORDO concept(s)
- Multisystemic smooth muscle dysfunction syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Multisystemic smooth muscle dysfunction syndrome [ORDO Disease]
- Multisystemic smooth muscle dysfunction syndrome (disorder) [SNOMED CT concept]

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