HSD10 disease
ORPHA:391417DiseaseX-linked dominantChildhood, Infancy, Neonatal
Фенотипы (HPO)37
Очень частый (80–99%)1
HP:0012073Abnormal urinary acylglycine profile
Частый (30–79%)8
HP:0000529Progressive visual loss
HP:0000750Delayed speech and language development
HP:0001250Seizure
HP:0001263Global developmental delay
HP:0001328Specific learning disability
HP:0002342Intellectual disability, moderate
HP:0002376Developmental regression
HP:0040155Elevated urinary 3-hydroxybutyric acid
Периодический (5–29%)15
HP:0000365Hearing impairment
HP:0000648Optic atrophy
HP:0000708Atypical behavior
HP:0000729Autistic behavior
HP:0000736Short attention span
HP:0001251Ataxia
HP:0001260Dysarthria
HP:0001266Choreoathetosis
HP:0001288Gait disturbance
HP:0001336Myoclonus
HP:0004925Chronic lactic acidosis
HP:0006892Frontotemporal cerebral atrophy
HP:0007042Focal white matter lesions
HP:0008947Floppy infant
HP:0012433Abnormal social behavior
Очень редкий (1–4%)13
HP:0000252Microcephaly
HP:0000639Nystagmus
HP:0001337Tremor
HP:0001347Hyperreflexia
HP:0002015Dysphagia
HP:0002063Rigidity
HP:0002119Ventriculomegaly
HP:0002307Drooling
HP:0002313Spastic paraparesis
HP:0002579Gastrointestinal dysmotility
HP:0007030Nonprogressive encephalopathy
HP:0008897Postnatal growth retardation
HP:0011470Nasogastric tube feeding in infancy
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 37 | 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)