Isolated ATP synthase deficiency
ORPHA:254913DiseaseAutosomal recessiveNeonatal
Ассоциированные гены7
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| MT-ATP6 | mitochondrially encoded ATP synthase membrane subunit 6 | Disease-causing germline mutation(s) in | gene with protein product | 516060 |
| ATP5MK | ATP synthase membrane subunit k | Disease-causing germline mutation(s) in | gene with protein product | 615204 |
| MT-ATP8 | mitochondrially encoded ATP synthase membrane subunit 8 | Disease-causing germline mutation(s) in | gene with protein product | 516070 |
| ATPAF2 | ATP synthase mitochondrial F1 complex assembly factor 2 | Disease-causing germline mutation(s) in | gene with protein product | 608918 |
| ATP5F1E | ATP synthase F1 subunit epsilon | Disease-causing germline mutation(s) in | gene with protein product | 606153 |
| ATP5F1A | ATP synthase F1 subunit alpha | Disease-causing germline mutation(s) in | gene with protein product | 164360 |
| ATP5F1D | ATP synthase F1 subunit delta | Disease-causing germline mutation(s) in | gene with protein product | 603150 |
Фенотипы (HPO)40
Частый (30–79%)16
HP:0001250Seizure
HP:0001251Ataxia
HP:0001252Hypotonia
HP:0001270Motor delay
HP:0001298Encephalopathy
HP:0001324Muscle weakness
HP:0001639Hypertrophic cardiomyopathy
HP:0001644Dilated cardiomyopathy
HP:0001987Hyperammonemia
HP:0002098Respiratory distress
HP:0003128Lactic acidosis
HP:0003348Hyperalaninemia
HP:00035353-Methylglutaconic aciduria
HP:0009830Peripheral neuropathy
HP:0011675Arrhythmia
HP:0012758Neurodevelopmental delay
Периодический (5–29%)23
HP:0000089Renal hypoplasia
HP:0000135Hypogonadism
HP:0000252Microcephaly
HP:0000407Sensorineural hearing impairment
HP:0000486Strabismus
HP:0000508Ptosis
HP:0000510Rod-cone dystrophy
HP:0000518Cataract
HP:0000618Blindness
HP:0000639Nystagmus
HP:0000648Optic atrophy
HP:0000821Hypothyroidism
HP:0001254Lethargy
HP:0001258Spastic paraplegia
HP:0001260Dysarthria
HP:0001272Cerebellar atrophy
HP:0001332Dystonia
HP:0002120Cerebral cortical atrophy
HP:0002240Hepatomegaly
HP:0002445Tetraplegia
HP:0003546Exercise intolerance
HP:0004322Short stature
HP:0032794Myoclonic seizure
Очень редкий (1–4%)1
HP:0000602Ophthalmoplegia
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)