| H00204 | |
| H番号 | H00204 |
| 名称 | Heimler 症候群 |
| 概要 | Heimler syndrome (HS) is a rare recessive disorder characterized by sensorineural hearing loss, amelogenesis imperfecta, nail abnormalities, and occasional or late-onset retinal pigmentation. It has been reported that HS is caused by hypomorphic mutations in the peroxisome biogenesis genes PEX1 and PEX6. HS is considered the mildest end of Zellweger syndrome spectrum disorders. |
| カテゴリ | 先天性代謝異常症, ペルオキシソーム病 |
| ネットワーク | - |
| 病因遺伝子 | (HMLR1) PEX1 [HSA:5189] [KO:K13338] (HMLR2) PEX6 [HSA:5190] [KO:K13339] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD27.0Y MeSH: C535994 OMIM: 234580 616617 |
| 文献 | PMID:32596134 著者 Barillari MR, Karali M, Di Iorio V, Contaldo M, Piccolo V, Esposito M, Costa G, Argenziano G, Serpico R, Carotenuto M, Cappuccio G, Banfi S, Melillo P, Simonelli F タイトル Mild form of Zellweger Spectrum Disorders (ZSD) due to variants in PEX1: Detailed clinical investigation in a 9-years-old female. 雑誌 Mol Genet Metab Rep 24:100615 (2020) DOI:10.1016/j.ymgmr.2020.100615 PMID:26387595 (PEX1, PEX6) 著者 Ratbi I, Falkenberg KD, Sommen M, Al-Sheqaih N, Guaoua S, Vandeweyer G, Urquhart JE, Chandler KE, Williams SG, Roberts NA, El Alloussi M, Black GC, Ferdinandusse S, Ramdi H, Heimler A, Fryer A, Lynch SA, Cooper N, Ong KR, Smith CE, Inglehearn CF, Mighell AJ, Elcock C, Poulter JA, Tischkowitz M, Davies SJ, Sefiani A, Mironov AA, Newman WG, Waterham HR, Van Camp G タイトル Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6. 雑誌 Am J Hum Genet 97:535-45 (2015) DOI:10.1016/j.ajhg.2015.08.011 |