Autosomal dominant optic atrophy and cataract
ORPHA:67036DiseaseAutosomal dominantChildhood
Ассоциированные гены1
Фенотипы (HPO)35
Облигатный (100%)1
HP:0000505Visual impairment
Очень частый (80–99%)2
HP:0000648Optic atrophy
HP:0007663Reduced visual acuity
Частый (30–79%)14
HP:0000518Cataract
HP:0000603Central scotoma
HP:0000639Nystagmus
HP:0001251Ataxia
HP:0001272Cerebellar atrophy
HP:0001284Areflexia
HP:0002174Postural tremor
HP:0002317Unsteady gait
HP:0002522Areflexia of lower limbs
HP:0003394Muscle spasm
HP:0003401Paresthesia
HP:0003474Somatic sensory dysfunction
HP:0010924Posterior cortical cataract
HP:0012531Pain
Периодический (5–29%)18
HP:0000552Tritanomaly
HP:0000618Blindness
HP:0000642Red-green dyschromatopsia
HP:0001172Abnormal thumb morphology
HP:0001315Reduced tendon reflexes
HP:0001377Limited elbow extension
HP:0001761Pes cavus
HP:0002322Resting tremor
HP:0002403Positive Romberg sign
HP:0003438Absent Achilles reflex
HP:0006248Limited wrist movement
HP:0007076Extrapyramidal muscular rigidity
HP:0007787Posterior subcapsular cataract
HP:0007795Anterior cortical cataract
HP:0007976Cerulean cataract
HP:0009468Deviation of the 2nd finger
HP:0010522Dyslexia
HP:0010923Anterior subcapsular cataract
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 3 | Worldwide | Family(ies) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)