Leber's hereditary optic neuropathy
GPTKB entity
Statements (28)
Predicate | Object |
---|---|
gptkbp:instanceOf |
genetic disorder
mitochondrial disease hereditary optic neuropathy |
gptkbp:affects |
optic nerve
|
gptkbp:cause |
vision loss
|
gptkbp:diagnosedBy |
genetic testing
|
gptkbp:firstDescribed |
1871
Theodore Leber |
gptkbp:hasOrphanetID |
ORPHA:526
|
https://www.w3.org/2000/01/rdf-schema#label |
Leber's hereditary optic neuropathy
|
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 gptkb:Volk_Leber |
gptkbp:bfsLayer |
7
|