Leber hereditary optic neuropathy
GPTKB entity
Statements (31)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
mitochondrial disease hereditary optic neuropathy |
| gptkbp:affects |
optic nerve
|
| gptkbp:category |
gptkb:mitochondrial_disorder
neuro-ophthalmology |
| gptkbp:firstDescribed |
1871
Theodore Leber |
| gptkbp:frequency |
higher in males
|
| https://www.w3.org/2000/01/rdf-schema#label |
Leber hereditary optic neuropathy
|
| gptkbp:ICD-10_code |
H47.2
|
| gptkbp:inheritance |
mitochondrial inheritance
|
| gptkbp:mutationAssociatedWith |
gptkb:MT-ND4
gptkb:MT-ND6 gptkb:MT-ND1 |
| gptkbp:OMIM |
535000
|
| gptkbp:onset |
young adulthood
|
| gptkbp:prevalence |
rare
|
| gptkbp:riskFactor |
alcohol consumption
smoking male sex |
| gptkbp:symptom |
central vision loss
optic nerve atrophy painless vision loss |
| gptkbp:treatment |
gptkb:idebenone
supportive care |
| gptkbp:bfsParent |
gptkb:ENSG00000198821
gptkb:MT-ND1 gptkb:MT-ND2 gptkb:NADH-ubiquinone_oxidoreductase_chain_1 |
| gptkbp:bfsLayer |
8
|