KEGG DISEASE: Wieacker-Wolff syndrome

KEGG

DISEASE: Wieacker-Wolff syndrome

Entry

H02268                      Disease

Name

Wieacker-Wolff syndrome

Description

Wieacker-Wolff syndrome (WRWF) is a rare X-linked disorder characterized by congenital contractures of the feet at birth, muscle atrophy, dyspraxia of the eye, face, and tongue muscles, and mental retardation. WRWF is caused by mutations in the ZC4H2 gene, that is involved in human brain development.

Category

Musculoskeletal disease

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
    H02268  Wieacker-Wolff syndrome

Gene

ZC4H2 [HSA:55906] [KO:K24369]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

Hirata H, Nanda I, van Riesen A, McMichael G, Hu H, Hambrock M, Papon MA, Fischer U, Marouillat S, Ding C, Alirol S, Bienek M, Preisler-Adams S, Grimme A, Seelow D, Webster R, Haan E, MacLennan A, Stenzel W, Yap TY, Gardner A, Nguyen LS, Shaw M, Lebrun N, Haas SA, Kress W, Haaf T, Schellenberger E, Chelly J, Viot G, Shaffer LG, Rosenfeld JA, Kramer N, Falk R, El-Khechen D, Escobar LF, Hennekam R, Wieacker P, Hubner C, Ropers HH, Gecz J, Schuelke M, Laumonnier F, Kalscheuer VM

Title

ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity.

Journal

Am J Hum Genet 92:681-95 (2013)
DOI:10.1016/j.ajhg.2013.03.021

Reference

Authors

Zanzottera C, Milani D, Alfei E, Rizzo A, D'Arrigo S, Esposito S, Pantaleoni C

Title

ZC4H2 deletions can cause severe phenotype in female carriers.

Journal

Am J Med Genet A 173:1358-1363 (2017)
DOI:10.1002/ajmg.a.38155

Reference

Authors

Wieacker P, Wolff G, Wienker TF, Sauer M

Title

A new X-linked syndrome with muscle atrophy, congenital contractures, and oculomotor apraxia.

Journal

Am J Med Genet 20:597-606 (1985)
DOI:10.1002/ajmg.1320200405

LinkDB

» Japanese version

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