| H00987 | |
| H番号 | 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 |
| ネットワーク | - |
| 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] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| 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 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 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 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 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 |