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KEGG

DISEASE: Beare-Stevenson syndrome

Entry

H01989                      Disease

Name

Beare-Stevenson syndrome;
Beare-Stevenson cutis gyrata syndrome

Supergrp

Syndromic craniosynostoses [DS:H00458]

Description

Beare-Stevenson cutis gyrata syndrome (BSTVS) is an extremely rare autosomal dominant condition characterized by the furrowed skin disorder called cutis gyrata, acanthosis nigricans, craniosynostosis, craniofacial dysmorphism, digital anomalies, umbilical and anogenital abnormalities and early death. Mutations of FGFR2 have been identified.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD24  Syndromes with skeletal anomalies as a major feature
    H01989  Beare-Stevenson syndrome
Pathway-based classification of diseases [BR:br08402]
Signal transduction
  nt06526  MAPK signaling
   H01989  Beare-Stevenson syndrome

Pathway

MAPK signaling pathway

Network

nt06526 MAPK signaling

Gene

FGFR2 [HSA:2263] [KO:K05093]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

Authors

Fonseca R, Costa-Lima MA, Cosentino V, Orioli IM

Title

Second case of Beare-Stevenson syndrome with an FGFR2 Ser372Cys mutation.

Journal

Am J Med Genet A 146A:658-60 (2008)
DOI:10.1002/ajmg.a.32176

Reference

Authors

Przylepa KA, Paznekas W, Zhang M, Golabi M, Bias W, Bamshad MJ, Carey JC, Hall BD, Stevenson R, Orlow S, Cohen MM Jr, Jabs EW

Title

Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome.

Journal

Nat Genet 13:492-4 (1996)
DOI:10.1038/ng0896-492

LinkDB

» Japanese version

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