KEGG   DISEASE: 胎児無動変形シークエンス
エントリ  
H00987                                                             
名称    
胎児無動変形シークエンス
概要    
Fetal akinesia deformation sequence (FADS) is a heterogeneous disorder characterized by impaired fetal movement and resulting developmental defects. Fetal movement is essential for normal fetal development and growth. Intrauterine movement restriction causes growth retardation, congenital limb contractures, pterygia, pulmonary hypoplasia, and hydramnios.
カテゴリ  
先天奇形
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 20 発達異常
  多発性の発達異常または症候群
   LD2F  多発性の構造異常を伴う症候群, 主な体系の関与を伴わないもの
    H00987  胎児無動変形シークエンス
病因遺伝子 
(FADS1) MUSK [HSA:4593] [KO:K05129]
(FADS2) RAPSN [HSA:5913] [KO:K24924]
(FADS3) DOK7 [HSA:285489] [KO:K24038]
(FADS4) NUP88 [HSA:4927] [KO:K14318]
リンク   
ICD-11: LD2F.1Y
ICD-10: Q87.8
MeSH: C536647
OMIM: 208150 618388 618389 618393
文献    
PMID:18252226
  著者
Michalk A, Stricker S, Becker J, Rupps R, Pantzar T, Miertus J, Botta G, Naretto VG, Janetzki C, Yaqoob N, Ott CE, Seelow D, Wieczorek D, Fiebig B, Wirth B, Hoopmann M, Walther M, Korber F, Blankenburg M, Mundlos S, Heller R, Hoffmann K
  タイトル
Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders.
  雑誌
Am J Hum Genet 82:464-76 (2008)
DOI:10.1016/j.ajhg.2007.11.006
文献    
PMID:18179903
  著者
Vogt J, Harrison BJ, Spearman H, Cossins J, Vermeer S, ten Cate LN, Morgan NV, Beeson D, Maher ER
  タイトル
Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients.
  雑誌
Am J Hum Genet 82:222-7 (2008)
DOI:10.1016/j.ajhg.2007.09.016
文献    
PMID:19261599
  著者
Vogt J, Morgan NV, Marton T, Maxwell S, Harrison BJ, Beeson D, Maher ER
  タイトル
Germline mutation in DOK7 associated with fetal akinesia deformation sequence.
  雑誌
J Med Genet 46:338-40 (2009)
DOI:10.1136/jmg.2008.065425
文献    
PMID:25537362
  著者
Tan-Sindhunata MB, Mathijssen IB, Smit M, Baas F, de Vries JI, van der Voorn JP, Kluijt I, Hagen MA, Blom EW, Sistermans E, Meijers-Heijboer H, Waisfisz Q, Weiss MM, Groffen AJ
  タイトル
Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence.
  雑誌
Eur J Hum Genet 23:1151-7 (2015)
DOI:10.1038/ejhg.2014.273
文献    
PMID:30543681
  著者
Bonnin E, Cabochette P, Filosa A, Juhlen R, Komatsuzaki S, Hezwani M, Dickmanns A, Martinelli V, Vermeersch M, Supply L, Martins N, Pirenne L, Ravenscroft G, Lombard M, Port S, Spillner C, Janssens S, Roets E, Van Dorpe J, Lammens M, Kehlenbach RH, Ficner R, Laing NG, Hoffmann K, Vanhollebeke B, Fahrenkrog B
  タイトル
Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence.
  雑誌
PLoS Genet 14:e1007845 (2018)
DOI:10.1371/journal.pgen.1007845
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