Tremor-ataxia-central hypomyelination syndrome
ORPHA:447896Clinical subtypeAutosomal recessiveChildhood, Infancy
Ассоциированные гены1
Фенотипы (HPO)41
Частый (30–79%)33
HP:0000044Hypogonadotropic hypogonadism
HP:0000511Vertical supranuclear gaze palsy
HP:0000545Myopia
HP:0000617Abnormality of ocular smooth pursuit
HP:0000639Nystagmus
HP:0000668Hypodontia
HP:0000677Oligodontia
HP:0000684Delayed eruption of teeth
HP:0000823Delayed puberty
HP:0001251Ataxia
HP:0001256Intellectual disability, mild
HP:0001257Spasticity
HP:0001263Global developmental delay
HP:0001310Dysmetria
HP:0001321Cerebellar hypoplasia
HP:0001332Dystonia
HP:0001347Hyperreflexia
HP:0002015Dysphagia
HP:0002079Hypoplasia of the corpus callosum
HP:0002080Intention tremor
HP:0002134Abnormality of the basal ganglia
HP:0002174Postural tremor
HP:0002312Clumsiness
HP:0002376Developmental regression
HP:0002403Positive Romberg sign
HP:0002415Leukodystrophy
HP:0002464Spastic dysarthria
HP:0002493Upper motor neuron dysfunction
HP:0003429CNS hypomyelination
HP:0003487Babinski sign
HP:0004322Short stature
HP:0005341Autonomic bladder dysfunction
HP:0025460High myoinositol in brain by MRS
Периодический (5–29%)6
HP:0000648Optic atrophy
HP:0002120Cerebral cortical atrophy
HP:0002166Impaired vibration sensation in the lower limbs
HP:0002307Drooling
HP:0006858Impaired distal proprioception
HP:0009830Peripheral neuropathy
Очень редкий (1–4%)2
HP:0000490Deeply set eye
HP:0007359Focal-onset seizure
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 7 | 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)