| H01497 | |
| H番号 | H01497 |
| 名称 | 軸前性短指症候群 |
| 概要 | Temtamy preaxial brachydactyly syndrome (TPBS) is an autosomal recessive rare disorder that is caused by the mutations in the CHSY1 gene. CHSY1 encodes chondroitin synthase 1 involving in the biosynthesis of chondroitin sulfate and perhaps affecting bone morphogenetic protein (BMP) signaling. The loss-of-function mutations in the protein cause defects in multiple development processes. The major features include limb malformations, short stature, hearing loss, delayed motor and mental development, facial dysmorphism and dental anomalies. |
| カテゴリ | 先天奇形 |
| ネットワーク | nt06029(H01497) Glycosaminoglycan biosynthesis |
| 病因遺伝子 | CHSY1 [HSA:22856] [KO:K13499] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD26.6Y ICD-10: Q87.2 MeSH: C536958 OMIM: 605282 |
| 文献 | PMID:21129728 著者 Li Y, Laue K, Temtamy S, Aglan M, Kotan LD, Yigit G, Canan H, Pawlik B, Nurnberg G, Wakeling EL, Quarrell OW, Baessmann I, Lanktree MB, Yilmaz M, Hegele RA, Amr K, May KW, Nurnberg P, Topaloglu AK, Hammerschmidt M, Wollnik B タイトル Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling. 雑誌 Am J Hum Genet 87:757-67 (2010) DOI:10.1016/j.ajhg.2010.10.003 PMID:24269551 著者 Sher G, Naeem M タイトル A novel CHSY1 gene mutation underlies Temtamy preaxial brachydactyly syndrome in a Pakistani family. 雑誌 Eur J Med Genet 57:21-4 (2014) DOI:10.1016/j.ejmg.2013.11.001 |