DNA2-related mitochondrial DNA deletion syndrome
ORPHA:352470DiseaseAutosomal dominantAll ages
Ассоциированные гены1
Фенотипы (HPO)20
Очень частый (80–99%)2
HP:0000590Progressive external ophthalmoplegia
HP:0003325Limb-girdle muscle weakness
Частый (30–79%)18
HP:0003198Myopathy
HP:0003307Hyperlordosis
HP:0003326Myalgia
HP:0003391Gowers sign
HP:0003394Muscle spasm
HP:0003737Mitochondrial myopathy
HP:0004673Decreased facial expression
HP:0007970Congenital ptosis
HP:0008331Elevated creatine kinase after exercise
HP:0040013Decreased mitochondrial number
HP:0000716Depression
HP:0001288Gait disturbance
HP:0001290Generalized hypotonia
HP:0001533Slender build
HP:0001558Decreased fetal movement
HP:0002828Multiple joint contractures
HP:0002870Obstructive sleep apnea
HP:0002875Exertional dyspnea
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 4 | 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)