Leber's hereditary optic neuropathy
GPTKB entity
Statements (27)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:genetic_disorder
gptkb:mitochondrial_disease gptkb:hereditary_optic_neuropathy |
| gptkbp:affects |
optic nerve
|
| gptkbp:cause |
vision loss
|
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
1871
Theodore Leber |
| gptkbp:hasOrphanetID |
ORPHA:526
|
| gptkbp:ICD-10_code |
H47.2
|
| gptkbp:inheritance |
mitochondrial
|
| gptkbp:mutationAssociatedWith |
gptkb:MT-ND4
gptkb:MT-ND6 gptkb:MT-ND1 |
| gptkbp:OMIM |
535000
|
| gptkbp:onset |
young adulthood
|
| gptkbp:prevalence |
rare
|
| gptkbp:sexBias |
more common in males
|
| gptkbp:symptom |
painless central vision loss
|
| gptkbp:treatment |
gptkb:idebenone
|
| gptkbp:bfsParent |
gptkb:ND1
gptkb:ND2 gptkb:ND5 gptkb:ND6 gptkb:Theodor_Leber |
| gptkbp:bfsLayer |
7
|
| https://www.w3.org/2000/01/rdf-schema#label |
Leber's hereditary optic neuropathy
|