KEGG DISEASE: Marden-Walker syndrome

DISEASE: Marden-Walker syndrome

Entry

H03031                      Disease

Name

Marden-Walker syndrome

Description

Marden-Walker syndrome (MWKS) is a very rare disorder characterized by joint contractures, cleft palate, blepharophimosis, immobile facies, diminished muscular bulk, developmental delay, and hindbrain malformations. It has been reported that mutations in PIEZO2 cause this syndrome. PIEZO2 encodes a widely expressed stretch-activated ion channel.

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
    H03031  Marden-Walker syndrome

Gene

PIEZO2 [HSA:63895] [KO:K22128]

Other DBs

ICD-11:

LD26.41

MeSH:

C535910

OMIM:

248700

Reference

PMID:24726473

Authors

McMillin MJ, Beck AE, Chong JX, Shively KM, Buckingham KJ, Gildersleeve HI, Aracena MI, Aylsworth AS, Bitoun P, Carey JC, Clericuzio CL, Crow YJ, Curry CJ, Devriendt K, Everman DB, Fryer A, Gibson K, Giovannucci Uzielli ML, Graham JM Jr, Hall JG, Hecht JT, Heidenreich RA, Hurst JA, Irani S, Krapels IP, Leroy JG, Mowat D, Plant GT, Robertson SP, Schorry EK, Scott RH, Seaver LH, Sherr E, Splitt M, Stewart H, Stumpel C, Temel SG, Weaver DD, Whiteford M, Williams MS, Tabor HK, Smith JD, Shendure J, Nickerson DA, Bamshad MJ

Title

Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.

Journal

Am J Hum Genet 94:734-44 (2014)
DOI:10.1016/j.ajhg.2014.03.015

Reference

PMID:33369052

Authors

Seidahmed MZ, Maddirevula S, Miqdad AM, Al Faifi A, Al Samadi A, Alkuraya FS

Title

Confirming the involvement of PIEZO2 in the etiology of Marden-Walker syndrome.

Journal

Am J Med Genet A 185:945-948 (2021)
DOI:10.1002/ajmg.a.62052

Reference

PMID:7679543

Authors

Ramer JC, Frankel CA, Ladda RL

Title

Marden-Walker phenotype: spectrum of variability in three infants.

Journal

Am J Med Genet 45:285-91 (1993)
DOI:10.1002/ajmg.1320450302

LinkDB

» Japanese version

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