Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation
ORPHA:324525DiseaseNo data availableInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)20
Частый (30–79%)12
HP:0001263Global developmental delay
HP:0001508Failure to thrive
HP:0001511Intrauterine growth retardation
HP:0001638Cardiomyopathy
HP:0002059Cerebral atrophy
HP:0002093Respiratory insufficiency
HP:0002151Increased circulating lactate concentration
HP:0003236Elevated circulating creatine kinase concentration
HP:0008872Feeding difficulties in infancy
HP:0008947Floppy infant
HP:0011923Decreased activity of mitochondrial complex I
HP:0012622Chronic kidney disease
Периодический (5–29%)8
HP:0001250Seizure
HP:0001947Renal tubular acidosis
HP:0002490Increased CSF lactate
HP:0002521Hypsarrhythmia
HP:0003348Hyperalaninemia
HP:00035353-Methylglutaconic aciduria
HP:0004322Short stature
HP:0011924Decreased activity of mitochondrial complex III
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)