NARP syndrome
ORPHA:644DiseaseMitochondrial inheritanceChildhood
Ассоциированные гены1
Фенотипы (HPO)28
Частый (30–79%)27
HP:0000365Hearing impairment
HP:0000510Rod-cone dystrophy
HP:0000543Optic disc pallor
HP:0000618Blindness
HP:0000639Nystagmus
HP:0000726Dementia
HP:0000737Irritability
HP:0000763Sensory neuropathy
HP:0001133Constriction of peripheral visual field
HP:0001136Retinal arteriolar tortuosity
HP:0001250Seizure
HP:0001251Ataxia
HP:0001263Global developmental delay
HP:0002119Ventriculomegaly
HP:0002120Cerebral cortical atrophy
HP:0002315Headache
HP:0003394Muscle spasm
HP:0003487Babinski sign
HP:0003701Proximal muscle weakness
HP:0003739Myoclonic spasms
HP:0004322Short stature
HP:0007117Corticospinal tract atrophy
HP:0007240Progressive gait ataxia
HP:0007814Retinal pigment epithelial mottling
HP:0010864Intellectual disability, severe
HP:0012751Abnormal basal ganglia MRI signal intensity
HP:0030588Abnormal visual field test
Исключён (0%)1
HP:0008316Abnormal mitochondria in muscle tissue
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)