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