Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
ORPHA:1933DiseaseMitochondrial inheritanceInfancy
Ассоциированные гены1
Фенотипы (HPO)23
Очень частый (80–99%)23
HP:0000252Microcephaly
HP:0000407Sensorineural hearing impairment
HP:0000505Visual impairment
HP:0000508Ptosis
HP:0000512Abnormal electroretinogram
HP:0000649Abnormality of visual evoked potentials
HP:0000708Atypical behavior
HP:0000762Decreased nerve conduction velocity
HP:0001250Seizure
HP:0001251Ataxia
HP:0001263Global developmental delay
HP:0001265Hyporeflexia
HP:0002119Ventriculomegaly
HP:0002194Delayed gross motor development
HP:0002230Generalized hirsutism
HP:0002514Cerebral calcification
HP:0003202Skeletal muscle atrophy
HP:0003236Elevated circulating creatine kinase concentration
HP:0003355Aminoaciduria
HP:0004322Short stature
HP:0004326Cachexia
HP:0006887Intellectual disability, progressive
HP:0012120Methylmalonic aciduria
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 2 | 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)