KEGG DISEASE: Barber-Say syndrome

DISEASE: Barber-Say syndrome

Entry

H01934                      Disease

Name

Barber-Say syndrome

Description

Barber-Say syndrome (BSS) is a rare autosomal dominant disorder characterized by generalized hypertrichosis especially at the back, other typical abnormalities of the skin, and facial dysmorphisms. It has been reported that BSS is due to mutations in TWIST2.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD27  Syndromes with skin or mucosal anomalies as a major feature
    H01934  Barber-Say syndrome

Gene

TWIST2 [HSA:117581] [KO:K09069]

Other DBs

ICD-11:

LD27.3

MeSH:

C537908

OMIM:

209885

Reference

PMID:26119818

Authors

Marchegiani S, Davis T, Tessadori F, van Haaften G, Brancati F, Hoischen A, Huang H, Valkanas E, Pusey B, Schanze D, Venselaar H, Vulto-van Silfhout AT, Wolfe LA, Tifft CJ, Zerfas PM, Zambruno G, Kariminejad A, Sabbagh-Kermani F, Lee J, Tsokos MG, Lee CC, Ferraz V, da Silva EM, Stevens CA, Roche N, Bartsch O, Farndon P, Bermejo-Sanchez E, Brooks BP, Maduro V, Dallapiccola B, Ramos FJ, Chung HY, Le Caignec C, Martins F, Jacyk WK, Mazzanti L, Brunner HG, Bakkers J, Lin S, Malicdan MC, Boerkoel CF, Gahl WA, de Vries BB, van Haelst MM, Zenker M, Markello TC

Title

Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes.

Journal

Am J Hum Genet 97:99-110 (2015)
DOI:10.1016/j.ajhg.2015.05.017

Reference

PMID:19760652

Authors

Haensel J, Kohlschmidt N, Pitz S, Keilmann A, Zenker M, Ullmann R, Haaf T, Bartsch O

Title

Case report supporting that the Barber-Say and ablepharon macrostomia syndromes could represent one disorder.

Journal

Am J Med Genet A 149A:2236-40 (2009)
DOI:10.1002/ajmg.a.32993

LinkDB

» Japanese version

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