Posterior column ataxia-retinitis pigmentosa syndrome
ORPHA:88628DiseaseAutosomal recessiveChildhood
Ассоциированные гены1
Фенотипы (HPO)31
Очень частый (80–99%)3
HP:0001251Ataxia
HP:0002166Impaired vibration sensation in the lower limbs
HP:0010831Impaired proprioception
Частый (30–79%)11
HP:0000510Rod-cone dystrophy
HP:0000572Visual loss
HP:0000580Pigmentary retinopathy
HP:0000662Nyctalopia
HP:0001249Intellectual disability
HP:0001288Gait disturbance
HP:0001290Generalized hypotonia
HP:0002066Gait ataxia
HP:0007737Bone spicule pigmentation of the retina
HP:0040078Axonal degeneration
HP:0045010Abnormality of peripheral nerves
Периодический (5–29%)16
HP:0012532Chronic pain
HP:0012785Flexion contracture of finger
HP:0030147Truncal titubation
HP:0040132Abnormal sensory nerve conduction velocity
HP:0000518Cataract
HP:0001250Seizure
HP:0001284Areflexia
HP:0002143Abnormality of the spinal cord
HP:0002194Delayed gross motor development
HP:0002403Positive Romberg sign
HP:0002579Gastrointestinal dysmotility
HP:0002650Scoliosis
HP:0002754Osteomyelitis
HP:0002808Kyphosis
HP:0003394Muscle spasm
HP:0012385Camptodactyly
Очень редкий (1–4%)1
HP:0002607Bowel incontinence
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 20 | Worldwide | Case(s) |
| 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)