| H01363 | |
| H number | H01363 |
| Name | NARP syndrome; Neuropathy ataxia and retinis pigmentosa |
| Description | Neuropathy ataxia and retinis pigmentosa (NARP syndrome) is a mitochondrial disorder characterized by retinal, central and peripheral neurodegeneration. Point mutations of the mitochondrial DNA ATPase 6 gene cause this disease. |
| Category | Inherited metabolic disorder, Mitochondrial disease |
| Network | - |
| Gene | MT-ATP6 [HSA:4508] [KO:K02126] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 8C73.1 ICD-10: G31.8 MeSH: C537396 OMIM: 551500 |
| Reference | PMID:20953793 AUTHORS Gelfand JM, Duncan JL, Racine CA, Gillum LA, Chin CT, Zhang Y, Zhang Q, Wong LJ, Roorda A, Green AJ TITLE Heterogeneous patterns of tissue injury in NARP syndrome. JOURNAL J Neurol 258:440-8 (2011) DOI:10.1007/s00415-010-5775-1 |