| H01015 | |
| H番号 | H01015 |
| 名称 | Jalili 症候群 |
| 概要 | Jalili syndrome is a combination of recessively inherited cone-rod dystrophy and amelogenesis imperfecta. It is caused by mutations in the CNNM4 gene, encoding a putative metal transporter, that is expressed in the neural retina and in ameloblasts in the developing tooth. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | CNNM4 [HSA:26504] [KO:K16302] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | Cone-rod dystrophy and amelogenesis imperfecta are described in H00481 and H00645, respectively. |
| リンク | ICD-11: LA30.6 ICD-10: H35.5 MeSH: C536604 OMIM: 217080 |
| 文献 | PMID:19200525 著者 Parry DA, Mighell AJ, El-Sayed W, Shore RC, Jalili IK, Dollfus H, Bloch-Zupan A, Carlos R, Carr IM, Downey LM, Blain KM, Mansfield DC, Shahrabi M, Heidari M, Aref P, Abbasi M, Michaelides M, Moore AT, Kirkham J, Inglehearn CF タイトル Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta. 雑誌 Am J Hum Genet 84:266-73 (2009) DOI:10.1016/j.ajhg.2009.01.009 PMID:20706282 著者 Jalili IK タイトル Cone-rod dystrophy and amelogenesis imperfecta (Jalili syndrome): phenotypes and environs. 雑誌 Eye (Lond) 24:1659-68 (2010) DOI:10.1038/eye.2010.103 |