Autosomal dominant optic atrophy, classic form
ORPHA:98673DiseaseAutosomal dominantAdolescent, Adult, Childhood
Ассоциированные гены2
Фенотипы (HPO)44
Очень частый (80–99%)2
HP:0000505Visual impairment
HP:0000648Optic atrophy
Частый (30–79%)7
HP:0000407Sensorineural hearing impairment
HP:0000551Color vision defect
HP:0000602Ophthalmoplegia
HP:0007141Sensorimotor neuropathy
HP:0012511Temporal optic disc pallor
HP:0025514Morning glory anomaly
HP:0030515Moderately reduced visual acuity
Периодический (5–29%)5
HP:0000508Ptosis
HP:0000603Central scotoma
HP:0001251Ataxia
HP:0001288Gait disturbance
HP:0003198Myopathy
Очень редкий (1–4%)30
HP:0000135Hypogonadism
HP:0000518Cataract
HP:0000639Nystagmus
HP:0000726Dementia
HP:0000738Hallucinations
HP:0000819Diabetes mellitus
HP:0000821Hypothyroidism
HP:0001250Seizure
HP:0001257Spasticity
HP:0001258Spastic paraplegia
HP:0001263Global developmental delay
HP:0001269Hemiparesis
HP:0001272Cerebellar atrophy
HP:0001284Areflexia
HP:0001761Pes cavus
HP:0001972Macrocytic anemia
HP:0002015Dysphagia
HP:0002076Migraine
HP:0002135Basal ganglia calcification
HP:0002518Abnormal periventricular white matter morphology
HP:0003202Skeletal muscle atrophy
HP:0003326Myalgia
HP:0003691Scapular winging
HP:0007366Atrophy/Degeneration affecting the brainstem
HP:0007371Corpus callosum atrophy
HP:0009921Duane anomaly
HP:0011968Feeding difficulties
HP:0012378Fatigue
HP:0030319Weakness of facial musculature
HP:0100543Cognitive impairment
Эпидемиология4
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 2 | Worldwide | Value and class |
| Point prevalence | 1-5 / 10 000 | 10 | Denmark | Value and class |
| Point prevalence | 1-9 / 100 000 | 2.86 | United Kingdom | Value and class |
| Point prevalence | 6-9 / 10 000 | 83.33 | Specific population | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)