| H00515 | |
| H番号 | H00515 |
| 名称 | 骨発生不全症 II 型 |
| 概要 | Atelosteogenesis type II (AO2) is a neonatally lethal chondrodysplasia, characterized by severely shortened limbs, small chest, scoliosis, clubfoot, abducted thumbs and great toes, and cleft palate. AO2 is an autosomal recessive disorder caused by mutations in the DTDST gene. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | DTDST [HSA:1836] [KO:K14701] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD24.03 ICD-10: Q77.5 MeSH: C535395 OMIM: 256050 |
| 文献 | PMID:11448940 著者 Karniski LP タイトル Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype. 雑誌 Hum Mol Genet 10:1485-90 (2001) DOI:10.1093/hmg/10.14.1485 PMID:8571951 著者 Hastbacka J, Superti-Furga A, Wilcox WR, Rimoin DL, Cohn DH, Lander ES タイトル Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias. 雑誌 Am J Hum Genet 58:255-62 (1996) |