KEGG DISEASE: Multiple pterygium syndrome

KEGG

DISEASE: Multiple pterygium syndrome

Entry

H00986                      Disease

Name

Multiple pterygium syndrome

Subgroup

Multiple pterygium syndrome, lethal type (LMPS)
Multiple pterygium syndrome, Escobar variant (EVMPS)

Description

The multiple pterygium syndromes (MPS) are a spectrum of phenotypically heterogenous disorders that can be divided into prenatally lethal (LMPS) and nonlethal Escobar (EVMPS) types. The clinical features of MPS are congenital joint contractures (arthrogryposis) and multiple skin webbing (pterygia). Patients may have other developmental defects such as micrognathia, ptosis, and cleft palate. The genes that encode subunits of the embryonal acetylcholine receptor are linked to this disease.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD26  Syndromes with limb anomalies as a major feature
    H00986  Multiple pterygium syndrome

Pathway

Neuroactive ligand-receptor interaction

Gene

(LMPS, EVMPS) CHRNG [HSA:1146] [KO:K04818]
(LMPS) CHRNA1 [HSA:1134] [KO:K04803]
(LMPS) CHRND [HSA:1144] [KO:K04816]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

Authors

Ramer JC, Ladda RL, Demuth WW

Title

Multiple pterygium syndrome. An overview.

Journal

Am J Dis Child 142:794-8 (1988)
DOI:10.1001/archpedi.1988.02150070108039

Reference

Authors

Thompson EM, Donnai D, Baraitser M, Hall CM, Pembrey ME, Fixsen J

Title

Multiple pterygium syndrome: evolution of the phenotype.

Journal

J Med Genet 24:733-49 (1987)
DOI:10.1136/jmg.24.12.733

Reference

Authors

Vogt J, Morgan NV, Rehal P, Faivre L, Brueton LA, Becker K, Fryns JP, Holder S, Islam L, Kivuva E, Lynch SA, Touraine R, Wilson LC, MacDonald F, Maher ER

Title

CHRNG genotype-phenotype correlations in the multiple pterygium syndromes.

Journal

J Med Genet 49:21-6 (2012)
DOI:10.1136/jmedgenet-2011-100378

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

Mayhew JF, Mychaskiw G

Title

Escobar syndrome: is this child prone to malignant hyperthermia?

Journal

Paediatr Anaesth 19:69-70 (2009)
DOI:10.1111/j.1460-9592.2008.02856.x

LinkDB

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