| H00997 | |
| H番号 | H00997 |
| 名称 | CATSHL 症候群 |
| 概要 | 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. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | FGFR3 [HSA:2261] [KO:K05094] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | 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] |
| リンク | ICD-11: LD2F.1Y ICD-10: Q87.2 MeSH: C537975 OMIM: 610474 |
| 文献 | PMID:17033969 著者 Toydemir RM, Brassington AE, Bayrak-Toydemir P, Krakowiak PA, Jorde LB, Whitby FG, Longo N, Viskochil DH, Carey JC, Bamshad MJ タイトル A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome. 雑誌 Am J Hum Genet 79:935-41 (2006) DOI:10.1086/508433 |