KEGG DISEASE: Fetal akinesia deformation sequence

KEGG

DISEASE: Fetal akinesia deformation sequence

Entry

H00987                      Disease

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

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2F  Syndromes with multiple structural anomalies, without predominant body system involvement
    H00987  Fetal akinesia deformation sequence

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]

Other DBs

ICD-11:

MeSH:

OMIM:

208150 618388 618389 618393

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

LinkDB

» Japanese version

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