Leber hereditary optic neuropathy
ORPHA:104DiseaseMitochondrial inheritanceAdolescent, Adult
Ассоциированные гены12
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| NDUFS2 | NADH:ubiquinone oxidoreductase core subunit S2 | Disease-causing germline mutation(s) in | gene with protein product | 602985 |
| DNAJC30 | DnaJ heat shock protein family (Hsp40) member C30 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 618202 |
| MT-ATP6 | mitochondrially encoded ATP synthase membrane subunit 6 | Disease-causing germline mutation(s) in | gene with protein product | 516060 |
| MT-CO1 | mitochondrially encoded cytochrome c oxidase I | Candidate gene tested in | gene with protein product | 516030 |
| MT-CO3 | mitochondrially encoded cytochrome c oxidase III | Disease-causing germline mutation(s) in | gene with protein product | 516050 |
| MT-CYB | mitochondrially encoded cytochrome b | Disease-causing germline mutation(s) in | gene with protein product | 516020 |
| MT-ND1 | mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Disease-causing germline mutation(s) in | gene with protein product | 516000 |
| MT-ND2 | mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Disease-causing germline mutation(s) in | gene with protein product | 516001 |
| MT-ND4 | mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Disease-causing germline mutation(s) in | gene with protein product | 516003 |
| MT-ND4L | mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L | Disease-causing germline mutation(s) in | gene with protein product | 516004 |
| MT-ND5 | mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Disease-causing germline mutation(s) in | gene with protein product | 516005 |
| MT-ND6 | mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Disease-causing germline mutation(s) in | gene with protein product | 516006 |
Фенотипы (HPO)20
Очень частый (80–99%)2
HP:0007924Slow decrease in visual acuity
HP:0200125Mitochondrial respiratory chain defects
Частый (30–79%)7
HP:0000529Progressive visual loss
HP:0000576Centrocecal scotoma
HP:0000603Central scotoma
HP:0000622Blurred vision
HP:0000648Optic atrophy
HP:0007763Retinal telangiectasia
HP:0012841Retinal vascular tortuosity
Периодический (5–29%)11
HP:0000512Abnormal electroretinogram
HP:0000551Color vision defect
HP:0000649Abnormality of visual evoked potentials
HP:0001251Ataxia
HP:0002174Postural tremor
HP:0003198Myopathy
HP:0004309Ventricular preexcitation
HP:0009830Peripheral neuropathy
HP:0011675Arrhythmia
HP:0020120Retinal nerve fiber edema
HP:0032036Reduced contrast sensitivity
Эпидемиология7
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 2.6 | Netherlands | Value and class |
| Point prevalence | 1-9 / 100 000 | 4.3 | Worldwide | Value and class |
| Point prevalence | 1-9 / 100 000 | 2.3 | Europe | Value and class |
| Point prevalence | 1-9 / 100 000 | 3.22 | United Kingdom | Value and class |
| Point prevalence | 1-9 / 100 000 | 2 | Finland | Value and class |
| Point prevalence | 1-9 / 100 000 | 1.85 | Denmark | Value and class |
| Point prevalence | 1-9 / 100 000 | 1.9743 | Japan | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)