Multiple pterygium syndrome, lethal type; LMPS

Disease ID:647
Name:Multiple pterygium syndrome, lethal type; LMPS
Associated with:3 targets
Synonyms
Lethal multiple pterygium syndrome
Description
A fetal akinesia deformation sequence (FADS) disorder
Database Links
OMIM: 253290
Orphanet: ORPHA33108

Targets

nicotinic acetylcholine receptor α1 subunit
Comments:  Mutation in acetylcholine receptor subunits are associated with fetal akinesia deformation sequence (FADS) disorders including lethal multiple pterygium syndrome.
References:  1
Mutations:  nicotinic acetylcholine receptor α1 subunit is associated with 2 mutation. Click here for details
nicotinic acetylcholine receptor γ subunit
References:  1-2
Mutations:  nicotinic acetylcholine receptor γ subunit is associated with 3 mutation. Click here for details
nicotinic acetylcholine receptor δ subunit
Mutations:  nicotinic acetylcholine receptor δ subunit is associated with 3 mutation. Click here for details

Ligands

No ligand related data available for Multiple pterygium syndrome, lethal type; LMPS

References

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1. Michalk A, Stricker S, Becker J, Rupps R, Pantzar T, Miertus J, Botta G, Naretto VG, Janetzki C, Yaqoob N et al.. (2008) Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders. Am. J. Hum. Genet., 82 (2): 464-76. [PMID:18252226]

2. Morgan NV, Brueton LA, Cox P, Greally MT, Tolmie J, Pasha S, Aligianis IA, van Bokhoven H, Marton T, Al-Gazali L et al.. (2006) Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome. Am. J. Hum. Genet., 79 (2): 390-5. [PMID:16826531]