| H01036 | |
| H番号 | H01036 |
| 名称 | 網膜色素変性症を伴う後索型失調症 |
| 概要 | Posterior column ataxia with retinitis pigmentosa (PCARP) is an autosomal recessive, childhood onset neurodegenerative disorder characterized by sensory ataxia and retinitis pigmentosa. It has been reported that PCARP is caused by mutations in FLVCR1, a gene encoding a heme-transporter protein. |
| カテゴリ | 神経系疾患 |
| ネットワーク | - |
| 病因遺伝子 | FLVCR1 [HSA:28982] [KO:K08220] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 8A03.1Y ICD-10: G11.1 MeSH: C536343 OMIM: 609033 |
| 文献 | PMID:21267618 著者 Ishiura H, Fukuda Y, Mitsui J, Nakahara Y, Ahsan B, Takahashi Y, Ichikawa Y, Goto J, Sakai T, Tsuji S タイトル Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1. 雑誌 Neurogenetics 12:117-21 (2011) DOI:10.1007/s10048-010-0271-4 |