Cardiac valvular dysplasia, X-linked

Preferred Label : Cardiac valvular dysplasia, X-linked;

Symbol : CVDPX;

CISMeF acronym : CVD1; XMVD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Valvular heart disease, congenital; EDS5; XMVD; Myxomatous valvular dystrophy, X-linked; Ehlers-danlos syndrome, type V;

Description : X-linked cardiac valvular dysplasia is a rare X-linked form of heart disease characterized by mitral and/or aortic valve regurgitation. Only males have been diagnosed as affected, while carrier females are asymptomatic. The histologic features do not differ from the common severe and idiopathic mitral valve prolapse.;

Inheritance : X-linked;

Molecular basis : Caused by mutation in the filamin-A gene (FLNA, 300017.0030);

Prefixed ID : #314400;

Details

Origin ID

314400;

UMLS CUI

C0262436;

Automatic exact mappings (from CISMeF team)
- Congenital valvular dysplasia [ORDO Disease]
- FLNA wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Cardiac valvular dysplasia, X-linked [MeSH concept]
- Ehlers-Danlos syndrome, type 5 (disorder) [SNOMED CT concept]
- FLNA-related X-linked myxomatous valvular dysplasia [ORDO Disease]
- Filamin A-related X-linked myxomatous valvular dysplasia (disorder) [SNOMED CT concept]
- X-Linked Cardiac Valvular Dysplasia [NCIt concept]
- X-linked cardiac valvular dysplasia [DO Concept]
- cardiac valvular dysplasia, X-linked [MeSH Supplementary Concept]
DO Cross reference
- X-linked cardiac valvular dysplasia [DO Concept]
Genes related to phenotype
- Filamin a [OMIM gene]
HPO term(s)
- Abnormality of metabolism/homeostasis [HPO term]
- Aortic regurgitation [HPO term]
- Bicuspid aortic valve [HPO term]
- Congestive heart failure [HPO term]
- Cutis laxa [HPO term]
- Hypertelorism [HPO term]
- Joint laxity [HPO term]
- Joint stiffness [HPO term]
- Mitral regurgitation [HPO term]
- Mitral valve prolapse [HPO term]
- Prominent supraorbital ridges [HPO term]
- Ptosis [HPO term]
- Short chordae tendineae of the mitral valve [HPO term]
- Short chordae tendineae of the tricuspid valve [HPO term]
- Thick vermilion border [HPO term]
- Tricuspid regurgitation [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Congenital valvular dysplasia [ORDO Disease]
- FLNA-related X-linked myxomatous valvular dysplasia [ORDO Disease]
- X-linked Ehlers-Danlos syndrome [ORDO Disease]
See also inter- (CISMeF)
- Ehlers-Danlos Syndrome, Type V [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cardiac valvular dysplasia, X-linked [MeSH concept]
- Filamin A-related X-linked myxomatous valvular dysplasia (disorder) [SNOMED CT concept]
- X-Linked Cardiac Valvular Dysplasia [NCIt concept]
- cardiac valvular dysplasia, X-linked [MeSH Supplementary Concept]

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