Autosomal recessive cerebellar ataxia due to STUB1 deficiency
ORPHA:412057DiseaseAutosomal recessiveAdolescent, Adult, Childhood
Ассоциированные гены1
Фенотипы (HPO)54
Очень частый (80–99%)4
HP:0001260Dysarthria
HP:0001272Cerebellar atrophy
HP:0002070Limb ataxia
HP:0002078Truncal ataxia
Частый (30–79%)9
HP:0001166Arachnodactyly
HP:0001181Adducted thumb
HP:0001288Gait disturbance
HP:0001347Hyperreflexia
HP:0002172Postural instability
HP:0002317Unsteady gait
HP:0005328Progeroid facial appearance
HP:0010831Impaired proprioception
HP:0012896Abnormal motor evoked potentials
Периодический (5–29%)24
HP:0000135Hypogonadism
HP:0000365Hearing impairment
HP:0000602Ophthalmoplegia
HP:0000639Nystagmus
HP:0000640Gaze-evoked nystagmus
HP:0000666Horizontal nystagmus
HP:0001263Global developmental delay
HP:0001321Cerebellar hypoplasia
HP:0002015Dysphagia
HP:0002061Lower limb spasticity
HP:0002063Rigidity
HP:0002167Abnormality of speech or vocalization
HP:0002174Postural tremor
HP:0002346Head tremor
HP:0002354Memory impairment
HP:0002378Hand tremor
HP:0003693Distal amyotrophy
HP:0006801Hyperactive deep tendon reflexes
HP:0007371Corpus callosum atrophy
HP:0011098Speech apraxia
HP:0011448Ankle clonus
HP:0012104Parietal cortical atrophy
HP:0012110Hypoplasia of the pons
HP:0100543Cognitive impairment
Очень редкий (1–4%)17
HP:0001094Iridocyclitis
HP:0001105Retinal atrophy
HP:0001152Saccadic smooth pursuit
HP:0001250Seizure
HP:0001596Alopecia
HP:0001733Pancreatitis
HP:0001999Abnormal facial shape
HP:0002679Abnormality of the sella turcica
HP:0005978Type II diabetes mellitus
HP:0012547Abnormal involuntary eye movements
HP:0012569Delayed menarche
HP:0100651Type I diabetes mellitus
HP:0000501Glaucoma
HP:0000657Oculomotor apraxia
HP:0000789Infertility
HP:0000821Hypothyroidism
HP:0000876Oligomenorrhea
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)