Mitochondrial DNA-related cardiomyopathy and hearing loss
ORPHA:1349Malformation syndromeMitochondrial inheritanceAdult, Childhood
Ассоциированные гены1
Фенотипы (HPO)30
Очень частый (80–99%)7
HP:0000407Sensorineural hearing impairment
HP:0001251Ataxia
HP:0001288Gait disturbance
HP:0001324Muscle weakness
HP:0001350Slurred speech
HP:0001639Hypertrophic cardiomyopathy
HP:0011342Mild global developmental delay
Частый (30–79%)14
HP:0000590Progressive external ophthalmoplegia
HP:0000597Ophthalmoparesis
HP:0001268Mental deterioration
HP:0001298Encephalopathy
HP:0001635Congestive heart failure
HP:0001644Dilated cardiomyopathy
HP:0002094Dyspnea
HP:0002151Increased circulating lactate concentration
HP:0003200Ragged-red muscle fibers
HP:0003457EMG abnormality
HP:0003542Increased serum pyruvate
HP:0003546Exercise intolerance
HP:0012514Lower limb pain
HP:0030680Abnormal cardiovascular system morphology
Периодический (5–29%)9
HP:0000822Hypertension
HP:0001012Multiple lipomas
HP:0001347Hyperreflexia
HP:0002373Febrile seizure (within the age range of 3 months to 6 years)
HP:0003326Myalgia
HP:0009126Increased adipose tissue
HP:0009830Peripheral neuropathy
HP:0012378Fatigue
HP:0100749Chest pain
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 2 | Worldwide | Family(ies) |
| 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)