KEGG DISEASE: 両大血管右室起始症

DISEASE: 両大血管右室起始症

エントリ

H00918

名称

両大血管右室起始症

概要

Double outlet right ventricle (DORV) is a clinically significant congenital heart defect. DORV is a condition in which the aorta rises from the right ventricle and is associated with ventricular septal defect. Chromosomal abnormalities are present in some cases of DORV. Trisomies 13 and 18, and del 22q11 are the most commonly associated cytogenetic lesions. Mutations in the CFC1 and GDF1 genes were the most commonly reported monogenic loci associated with DORV in humans.

カテゴリ

循環器系疾患

階層分類

ICD-11 による疾患分類 [BR:jp08403]
20 発達異常
  主に1つの体系に影響する構造的発達異常
   循環器系の構造的発達異常
    心臓または大血管の構造的発達異常
     LA85  房室または心室大血管結合の先天異常
      H00918  両大血管右室起始症
指定難病 [jp08407.html]
H00918

病因遺伝子

NKX2-5 [HSA:1482] [KO:K09345]
CFC1 [HSA:55997] [KO:K25454]
GDF1 [HSA:2657] [KO:K05495]

See also H01525 22q11.2 deletion syndrome.

リンク

ICD-11:

ICD-10:

MeSH:

OMIM:

文献

PMID:18456715

著者

Obler D, Juraszek AL, Smoot LB, Natowicz MR

タイトル

Double outlet right ventricle: aetiologies and associations.

雑誌

J Med Genet 45:481-97 (2008)
DOI:10.1136/jmg.2008.057984

文献

PMID:14607454 (NKX2-5)

著者

McElhinney DB, Geiger E, Blinder J, Benson DW, Goldmuntz E

タイトル

NKX2.5 mutations in patients with congenital heart disease.

雑誌

J Am Coll Cardiol 42:1650-5 (2003)
DOI:10.1016/j.jacc.2003.05.004

文献

PMID:11799476 (CFC1)

著者

Goldmuntz E, Bamford R, Karkera JD, dela Cruz J, Roessler E, Muenke M

タイトル

CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle.

雑誌

Am J Hum Genet 70:776-80 (2002)
DOI:10.1086/339079

文献

PMID:17924340 (GDF1)

著者

Karkera JD, Lee JS, Roessler E, Banerjee-Basu S, Ouspenskaia MV, Mez J, Goldmuntz E, Bowers P, Towbin J, Belmont JW, Baxevanis AD, Schier AF, Muenke M

タイトル

Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans.

雑誌

Am J Hum Genet 81:987-94 (2007)
DOI:10.1086/522890

» English version

All links

Disease (1)   
   OMIM (1)   
Gene (6)   
   KEGG ORTHOLOGY (3)   
   KEGG GENES (3)   
Literature (4)   
   PubMed (4)   
All databases (11)   

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