KEGG   DISEASE: H00997Help
Entry
H00997                      Disease                                

Name
CATSHL syndrome
Description
CATSHL syndrome is characterised by camptodactyly, tall stature, scoliosis, and hearing loss. The syndrome is caused by a missense mutation in the FGFR3 gene. FGFR3 is a negative regulator of bone growth, and its mutations are well known to cause a variety of short-limbed bone dysplasias and craniosynostosis syndromes. The finding of CATSHL syndrome indicates that abnormal FGFR3 signaling can cause human anomalies by promoting as well as inhibiting endochondral bone growth.
Category
Developmental disorder; Nervous system disease
BRITE hierarchy
Pathway
MAPK signaling pathway
Regulation of actin cytoskeleton
Gene
FGFR3 [HSA:2261] [KO:K05094]
Comment
Mutations in FGFR3 cause different disorders.
FGFR3-related short limb skeletal dysplasias [DS:H00505]
Muenke craniosynostosis [DS:H00458]
Lacrimo-auriculo-dento-digital syndrome [DS:H00642]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
  Authors
Toydemir RM, Brassington AE, Bayrak-Toydemir P, Krakowiak PA, Jorde LB, Whitby FG, Longo N, Viskochil DH, Carey JC, Bamshad MJ
  Title
A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome.
  Journal
Am J Hum Genet 79:935-41 (2006)

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