Details of Disease

General Information of Disease (ID: DISN2WU4)

Disease Name Cardiac valvular dysplasia, X-linked
Synonyms XMVD; myxomatous valvular dystrophy, X-linked; valvular heart disease, congenital; congenital valvular dysplasia; CVD1; cardiac valvular dysplasia, X-linked
Disease Hierarchy
DIS2ANVO: Congenital tricuspid malformation
DISMT2VZ: Cardiogenetic disease
DISN2WU4: Cardiac valvular dysplasia, X-linked
Disease Identifiers
MONDO ID
MONDO_0010753
MESH ID
C535576
UMLS CUI
C0262436
OMIM ID
314400
MedGen ID
78083
Orphanet ID
555877
SNOMED CT ID
1186709006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
FLNA TTSTRZY Strong X-linked [1]
FLNA TTSTRZY Strong Biomarker [1]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
FLNA OTYZ9JXM Strong X-linked [1]
MFAP4 OT5W64QY Strong Altered Expression [2]
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References

1 Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy. Circulation. 2007 Jan 2;115(1):40-9. doi: 10.1161/CIRCULATIONAHA.106.622621. Epub 2006 Dec 26.
2 Localization of microfibrillar-associated protein 4 (MFAP4) in human tissues: clinical evaluation of serum MFAP4 and its association with various cardiovascular conditions.PLoS One. 2013 Dec 13;8(12):e82243. doi: 10.1371/journal.pone.0082243. eCollection 2013.