Kjellin syndrome
ORPHA:100996DiseaseAutosomal recessiveAdolescent, Adult, Childhood
Ассоциированные гены1
Фенотипы (HPO)38
Очень частый (80–99%)1
HP:0002079Hypoplasia of the corpus callosum
Частый (30–79%)25
HP:0000009Functional abnormality of the bladder
HP:0000580Pigmentary retinopathy
HP:0000639Nystagmus
HP:0001249Intellectual disability
HP:0001257Spasticity
HP:0001258Spastic paraplegia
HP:0001260Dysarthria
HP:0001288Gait disturbance
HP:0001317Abnormal cerebellum morphology
HP:0001324Muscle weakness
HP:0002061Lower limb spasticity
HP:0002071Abnormality of extrapyramidal motor function
HP:0002395Lower limb hyperreflexia
HP:0002500Abnormal cerebral white matter morphology
HP:0003477Peripheral axonal neuropathy
HP:0003484Upper limb muscle weakness
HP:0003487Babinski sign
HP:0006986Upper limb spasticity
HP:0007024Pseudobulbar paralysis
HP:0007108Demyelinating peripheral neuropathy
HP:0008969Leg muscle stiffness
HP:0012045Retinal flecks
HP:0030506Yellow/white lesions of the retina
HP:0030892Deep cerebral white matter hyperdensities
HP:0100543Cognitive impairment
Периодический (5–29%)12
HP:0000496Abnormality of eye movement
HP:0000708Atypical behavior
HP:0000726Dementia
HP:0000819Diabetes mellitus
HP:0001152Saccadic smooth pursuit
HP:0001250Seizure
HP:0001328Specific learning disability
HP:0001761Pes cavus
HP:0002145Frontotemporal dementia
HP:0002378Hand tremor
HP:0002495Impaired vibratory sensation
HP:0003693Distal amyotrophy
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 10 | 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)