Multiple pterygium syndrome, escobar variant; EVMPS

Disease ID:335
Name:Multiple pterygium syndrome, escobar variant; EVMPS
Associated with:1 target
Synonyms
Autosomal recessive multiple pterygium syndrome | Autosomal recessive non-lethal multiple pterygium | Escobar syndrome
Description
A fetal akinesia deformation sequence (FADS) disorder
Database Links
OMIM: 265000
Orphanet: ORPHA2990

Targets

nicotinic acetylcholine receptor γ subunit
References:  1-2
Mutations:  nicotinic acetylcholine receptor γ subunit is associated with 12 mutation. Click here for details

Ligands

No ligand related data available for Multiple pterygium syndrome, escobar variant; EVMPS

References

Show »

1. Hoffmann K, Muller JS, Stricker S, Megarbane A, Rajab A, Lindner TH, Cohen M, Chouery E, Adaimy L, Ghanem I et al.. (2006) Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. Am. J. Hum. Genet., 79 (2): 303-12. [PMID:16826520]

2. 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]

3. 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]