| H00987 | |
| H number | H00987 |
| Name | Fetal akinesia deformation sequence; Pena-Shokeir syndrome, type 1 |
| Description | 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. |
| Category | Congenital malformation |
| Network | - |
| Gene | (FADS1) MUSK [HSA:4593] [KO:K05129] (FADS2) RAPSN [HSA:5913] [KO:K24924] (FADS3) DOK7 [HSA:285489] [KO:K24038] (FADS4) NUP88 [HSA:4927] [KO:K14318] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD2F.1Y ICD-10: Q87.8 MeSH: C536647 OMIM: 208150 618388 618389 618393 |
| Reference | PMID:18252226 AUTHORS 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 TITLE Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders. JOURNAL Am J Hum Genet 82:464-76 (2008) DOI:10.1016/j.ajhg.2007.11.006 PMID:18179903 AUTHORS Vogt J, Harrison BJ, Spearman H, Cossins J, Vermeer S, ten Cate LN, Morgan NV, Beeson D, Maher ER TITLE Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients. JOURNAL Am J Hum Genet 82:222-7 (2008) DOI:10.1016/j.ajhg.2007.09.016 PMID:19261599 AUTHORS Vogt J, Morgan NV, Marton T, Maxwell S, Harrison BJ, Beeson D, Maher ER TITLE Germline mutation in DOK7 associated with fetal akinesia deformation sequence. JOURNAL J Med Genet 46:338-40 (2009) DOI:10.1136/jmg.2008.065425 PMID:25537362 AUTHORS 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 TITLE Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence. JOURNAL Eur J Hum Genet 23:1151-7 (2015) DOI:10.1038/ejhg.2014.273 PMID:30543681 AUTHORS 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 TITLE Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence. JOURNAL PLoS Genet 14:e1007845 (2018) DOI:10.1371/journal.pgen.1007845 |