| H01036 | |
| H number | H01036 |
| Name | Posterior column ataxia with retinitis pigmentosa |
| Description | 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. |
| Category | Nervous system disease |
| Network | - |
| Gene | FLVCR1 [HSA:28982] [KO:K08220] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 8A03.1Y ICD-10: G11.1 MeSH: C536343 OMIM: 609033 |
| Reference | PMID:21267618 AUTHORS Ishiura H, Fukuda Y, Mitsui J, Nakahara Y, Ahsan B, Takahashi Y, Ichikawa Y, Goto J, Sakai T, Tsuji S TITLE Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1. JOURNAL Neurogenetics 12:117-21 (2011) DOI:10.1007/s10048-010-0271-4 |