KEGG DISEASE: Jackson-Weiss syndrome

DISEASE: Jackson-Weiss syndrome

Entry

H01988                      Disease

Name

Jackson-Weiss syndrome

Supergrp

Syndromic craniosynostoses [DS:H00458]

Description

Jackson-Weiss syndrome (JWS) is an autosomal dominant condition characterized by craniosynostosis, foot anomalies and great phenotypic variability. While mutations of multiple genes have been identified in syndromic craniosynostosis, the most frequently mutated gene is FGFR2. Mutations of FGFR1 have occasionally been identified in JWS.

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
    H01988  Jackson-Weiss syndrome
Pathway-based classification of diseases [BR:br08402]
Signal transduction
  nt06526  MAPK signaling
   H01988  Jackson-Weiss syndrome

Pathway

hsa04010

MAPK signaling pathway

Network

nt06526 MAPK signaling

Gene

FGFR1 [HSA:2260] [KO:K04362]
FGFR2 [HSA:2263] [KO:K05093]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

PMID:7874170

Authors

Jabs EW, Li X, Scott AF, Meyers G, Chen W, Eccles M, Mao JI, Charnas LR, Jackson CE, Jaye M

Title

Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2.

Journal

Nat Genet 8:275-9 (1994)
DOI:10.1038/ng1194-275

Reference

PMID:27683237

Authors

Ohishi A, Nishimura G, Kato F, Ono H, Maruwaka K, Ago M, Suzumura H, Hirose E, Uchida Y, Fukami M, Ogata T

Title

Mutation analysis of FGFR1-3 in 11 Japanese patients with syndromic craniosynostoses.

Journal

Am J Med Genet A 173:157-162 (2017)
DOI:10.1002/ajmg.a.37992

» Japanese version

All links

Network (3)   
   KEGG NETWORK (1)   
   KEGG VARIANT (2)   
Disease (1)   
   OMIM (1)   
Gene (4)   
   KEGG ORTHOLOGY (2)   
   KEGG GENES (2)   
Literature (2)   
   PubMed (2)   
All databases (10)   

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