KEGG   DISEASE: X-linked cardiac valvular dysplasia
Entry
H02230                      Disease                                
Name
X-linked cardiac valvular dysplasia;
X-linked myxomatous valvular dystrophy
  Supergrp
Mitral valve prolapse [DS:H01868]
Description
X-linked cardiac valvular dysplasia is characterized by mitral valve dystrophy frequently associated with degeneration of the aortic valves affecting males and, to a lower severity, females. It has been reported that mutations in FLNA encoding filamin A cause this disease.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Structural developmental anomalies primarily affecting one body system
   Structural developmental anomalies of the circulatory system
    Structural developmental anomaly of heart or great vessels
     LA87  Congenital anomaly of an atrioventricular valve or atrioventricular septum
      H02230  X-linked cardiac valvular dysplasia
Gene
FLNA [HSA:2316] [KO:K04437]
Other DBs
ICD-11: LA87
MeSH: C535576
OMIM: 314400
Reference
PMID:17190868
  Authors
Kyndt F, Gueffet JP, Probst V, Jaafar P, Legendre A, Le Bouffant F, Toquet C, Roy E, McGregor L, Lynch SA, Newbury-Ecob R, Tran V, Young I, Trochu JN, Le Marec H, Schott JJ
  Title
Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy.
  Journal
Circulation 115:40-9 (2007)
DOI:10.1161/CIRCULATIONAHA.106.622621
Reference
PMID:10841240
  Authors
Trochu JN, Kyndt F, Schott JJ, Gueffet JP, Probst V, Benichou B, Le Marec H
  Title
Clinical characteristics of a familial inherited myxomatous valvular dystrophy mapped to Xq28.
  Journal
J Am Coll Cardiol 35:1890-7 (2000)
DOI:10.1016/S0735-1097(00)00617-3
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