TRAPPC11-related limb-girdle muscular dystrophy R18
ORPHA:369840DiseaseAutosomal recessiveChildhood, Infancy
Ассоциированные гены1
Фенотипы (HPO)27
Частый (30–79%)18
HP:0000518Cataract
HP:0001265Hyporeflexia
HP:0001288Gait disturbance
HP:0001344Absent speech
HP:0002240Hepatomegaly
HP:0002515Waddling gait
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0003198Myopathy
HP:0003307Hyperlordosis
HP:0003326Myalgia
HP:0003394Muscle spasm
HP:0003560Muscular dystrophy
HP:0003701Proximal muscle weakness
HP:0006785Limb-girdle muscular dystrophy
HP:0006889Intellectual disability, borderline
HP:0012762Cerebral white matter atrophy
HP:0040081Abnormal circulating creatine kinase concentration
HP:0100295Muscle fiber atrophy
Периодический (5–29%)7
HP:0000252Microcephaly
HP:0001397Hepatic steatosis
HP:0002069Bilateral tonic-clonic seizure
HP:0002072Chorea
HP:0002078Truncal ataxia
HP:0008947Floppy infant
HP:0025313Exophoria
Исключён (0%)2
HP:0002091Restrictive ventilatory defect
HP:0005133Right ventricular dilatation
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 3 | 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)