H01201 | |
H number | H01201 |
Name | Jensen syndrome; Opticoacoustic nerve atrophy |
Description | Jensen syndrome is X-linked deafness syndromes associated with progressive visual deterioration, dystonia, dementia, and psychiatric abnormalities. Causative mutations were identified within the deafness-dystonia peptide (TIMM8a) gene. |
Category | Inherited metabolic disorder, Mitochondrial disease |
Network | - |
Gene | TIMM8A [HSA:1678] [KO:K17780] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | Mohr-Tranebjaerg syndrome [DS:H00989] is also caused by defects in TIMM8A. |
Other DBs | ICD-11: 5C53.2Y ICD-10: H47.2 H90.3 MeSH: C537568 OMIM: 311150 |
Reference | PMID:11803487 AUTHORS Tranebjaerg L, Jensen PK, Van Ghelue M, Vnencak-Jones CL, Sund S, Elgjo K, Jakobsen J, Lindal S, Warburg M, Fuglsang-Frederiksen A, Skullerud K TITLE Neuronal cell death in the visual cortex is a prominent feature of the X-linked recessive mitochondrial deafness-dystonia syndrome caused by mutations in the TIMM8a gene. JOURNAL Ophthalmic Genet 22:207-23 (2001) DOI:10.1076/opge.22.4.207.2220 |