Classic glucose transporter type 1 deficiency syndrome
ORPHA:71277DiseaseAutosomal dominant, Autosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)33
Очень частый (80–99%)11
HP:0000253Progressive microcephaly
HP:0001250Seizure
HP:0001251Ataxia
HP:0001257Spasticity
HP:0001263Global developmental delay
HP:0001298Encephalopathy
HP:0001332Dystonia
HP:0001877Abnormal erythrocyte morphology
HP:0002133Status epilepticus
HP:0002353EEG abnormality
HP:0011972Hypoglycorrhachia
Частый (30–79%)17
HP:0000750Delayed speech and language development
HP:0000961Cyanosis
HP:0001249Intellectual disability
HP:0001254Lethargy
HP:0001260Dysarthria
HP:0001266Choreoathetosis
HP:0001269Hemiparesis
HP:0001276Hypertonia
HP:0001289Confusion
HP:0002072Chorea
HP:0002315Headache
HP:0003470Paralysis
HP:0003552Muscle stiffness
HP:0007034Generalized hyperreflexia
HP:0007308Extrapyramidal dyskinesia
HP:0007704Paroxysmal involuntary eye movements
HP:0100660Dyskinesia
Периодический (5–29%)5
HP:0000486Strabismus
HP:0001336Myoclonus
HP:0002186Apraxia
HP:0002360Sleep abnormality
HP:0002871Central apnea
Эпидемиология4
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.26 | Norway | Value and class |
| Point prevalence | 1-9 / 100 000 | 1.11 | Australia | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.538 | Worldwide | Value and class |
| Point prevalence | 1-9 / 100 000 | 1.2 | Denmark | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)