Isolated complex I deficiency
ORPHA:2609DiseaseAutosomal recessive, Mitochondrial inheritance, X-linked dominantAll ages
Ассоциированные гены29
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| TMEM126B | transmembrane protein 126B | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 615533 |
| NDUFAF8 | NADH:ubiquinone oxidoreductase complex assembly factor 8 | Disease-causing germline mutation(s) in | gene with protein product | 618461 |
| TIMMDC1 | translocase of inner mitochondrial membrane domain containing 1 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 615534 |
| NDUFB11 | NADH:ubiquinone oxidoreductase subunit B11 | Candidate gene tested in | gene with protein product | 300403 |
| NDUFA6 | NADH:ubiquinone oxidoreductase subunit A6 | Disease-causing germline mutation(s) in | gene with protein product | 602138 |
| MT-ND1 | mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Disease-causing germline mutation(s) in | gene with protein product | 516000 |
| MT-ND2 | mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Disease-causing germline mutation(s) in | gene with protein product | 516001 |
| MT-ND3 | mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Disease-causing germline mutation(s) in | gene with protein product | 516002 |
| NDUFAF2 | NADH:ubiquinone oxidoreductase complex assembly factor 2 | Disease-causing germline mutation(s) in | gene with protein product | 609653 |
| NDUFS1 | NADH:ubiquinone oxidoreductase core subunit S1 | Disease-causing germline mutation(s) in | gene with protein product | 157655 |
| NDUFS2 | NADH:ubiquinone oxidoreductase core subunit S2 | Disease-causing germline mutation(s) in | gene with protein product | 602985 |
| NDUFS3 | NADH:ubiquinone oxidoreductase core subunit S3 | Disease-causing germline mutation(s) in | gene with protein product | 603846 |
| NDUFS4 | NADH:ubiquinone oxidoreductase subunit S4 | Disease-causing germline mutation(s) in | gene with protein product | 602694 |
| NDUFS6 | NADH:ubiquinone oxidoreductase subunit S6 | Disease-causing germline mutation(s) in | gene with protein product | 603848 |
| NDUFS7 | NADH:ubiquinone oxidoreductase core subunit S7 | Disease-causing germline mutation(s) in | gene with protein product | 601825 |
| NDUFS8 | NADH:ubiquinone oxidoreductase core subunit S8 | Disease-causing germline mutation(s) in | gene with protein product | 602141 |
| NDUFV1 | NADH:ubiquinone oxidoreductase core subunit V1 | Disease-causing germline mutation(s) in | gene with protein product | 161015 |
| NDUFV2 | NADH:ubiquinone oxidoreductase core subunit V2 | Disease-causing germline mutation(s) in | gene with protein product | 600532 |
| NDUFA1 | NADH:ubiquinone oxidoreductase subunit A1 | Disease-causing germline mutation(s) in | gene with protein product | 300078 |
| NDUFAF4 | NADH:ubiquinone oxidoreductase complex assembly factor 4 | Disease-causing germline mutation(s) in | gene with protein product | 611776 |
| NDUFAF5 | NADH:ubiquinone oxidoreductase complex assembly factor 5 | Disease-causing germline mutation(s) in | gene with protein product | 612360 |
| NDUFA11 | NADH:ubiquinone oxidoreductase subunit A11 | Disease-causing germline mutation(s) in | gene with protein product | 612638 |
| NDUFAF3 | NADH:ubiquinone oxidoreductase complex assembly factor 3 | Disease-causing germline mutation(s) in | gene with protein product | 612911 |
| NUBPL | NUBP iron-sulfur cluster assembly factor, mitochondrial | Disease-causing germline mutation(s) in | gene with protein product | 613621 |
| FOXRED1 | FAD dependent oxidoreductase domain containing 1 | Disease-causing germline mutation(s) in | gene with protein product | 613622 |
| NDUFAF1 | NADH:ubiquinone oxidoreductase complex assembly factor 1 | Disease-causing germline mutation(s) in | gene with protein product | 606934 |
| NDUFB9 | NADH:ubiquinone oxidoreductase subunit B9 | Disease-causing germline mutation(s) in | gene with protein product | 601445 |
| NDUFB3 | NADH:ubiquinone oxidoreductase subunit B3 | Disease-causing germline mutation(s) in | gene with protein product | 603839 |
| NDUFB10 | NADH:ubiquinone oxidoreductase subunit B10 | Disease-causing germline mutation(s) in | gene with protein product | 603843 |
Фенотипы (HPO)37
Облигатный (100%)1
HP:0011923Decreased activity of mitochondrial complex I
Очень частый (80–99%)31
HP:0000114Proximal tubulopathy
HP:0000407Sensorineural hearing impairment
HP:0000486Strabismus
HP:0000508Ptosis
HP:0000543Optic disc pallor
HP:0000639Nystagmus
HP:0000817Reduced eye contact
HP:0001138Optic neuropathy
HP:0001251Ataxia
HP:0001252Hypotonia
HP:0001254Lethargy
HP:0001263Global developmental delay
HP:0001298Encephalopathy
HP:0001324Muscle weakness
HP:0001508Failure to thrive
HP:0001511Intrauterine growth retardation
HP:0001639Hypertrophic cardiomyopathy
HP:0001943Hypoglycemia
HP:0002013Vomiting
HP:0002093Respiratory insufficiency
HP:0002240Hepatomegaly
HP:0002352Leukoencephalopathy
HP:0002415Leukodystrophy
HP:0002421Poor head control
HP:0002490Increased CSF lactate
HP:0003128Lactic acidosis
HP:0003542Increased serum pyruvate
HP:0003737Mitochondrial myopathy
HP:0007704Paroxysmal involuntary eye movements
HP:0008316Abnormal mitochondria in muscle tissue
HP:0012748Focal T2 hyperintense brainstem lesion
Периодический (5–29%)5
HP:0000252Microcephaly
HP:0000618Blindness
HP:0000819Diabetes mellitus
HP:0011968Feeding difficulties
HP:0025116Fetal distress
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)