| H01246 | |
| H番号 | H01246 |
| 名称 | 非症候群性先天性ばち指 |
| 概要 | Isolated congenital nail clubbing (ICNC) is a rare autosomal recessive disorder characterised by enlargement of the terminal segments of fingers and toes with thickened nails due to proliferation of the connective tissues and abnormal function of the nail matrix. It has been reported that mutation in the HPGD gene underlies ICNC. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | HPGD [HSA:3248] [KO:K00069] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LB80.1 ICD-10: Q68.1 MeSH: D010004 OMIM: 119900 |
| 文献 | PMID:18805827 著者 Tariq M, Azeem Z, Ali G, Chishti MS, Ahmad W タイトル Mutation in the HPGD gene encoding NAD+ dependent 15-hydroxyprostaglandin dehydrogenase underlies isolated congenital nail clubbing (ICNC). 雑誌 J Med Genet 46:14-20 (2009) DOI:10.1136/jmg.2008.061234 |