Mitochondrial DNA-related progressive external ophthalmoplegia
ORPHA:663DiseaseMitochondrial inheritance, Not applicableAdolescent, Adult
Ассоциированные гены4
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| MT-TS1 | mitochondrially encoded tRNA-Ser (UCN) 1 | Disease-causing germline mutation(s) in | Non-coding RNA | 590080 |
| MT-TL2 | mitochondrially encoded tRNA-Leu (CUN) 2 | Disease-causing germline mutation(s) in | Non-coding RNA | 590055 |
| MT-TN | mitochondrially encoded tRNA-Asn (AAU/C) | Disease-causing germline mutation(s) in | Non-coding RNA | 590010 |
| MT-TL1 | mitochondrially encoded tRNA-Leu (UUA/G) 1 | Candidate gene tested in | Non-coding RNA | 590050 |
Фенотипы (HPO)17
Очень частый (80–99%)2
HP:0000590Progressive external ophthalmoplegia
HP:0003800Muscle abnormality related to mitochondrial dysfunction
Частый (30–79%)12
HP:0000508Ptosis
HP:0000821Hypothyroidism
HP:0001348Brisk reflexes
HP:0002091Restrictive ventilatory defect
HP:0002151Increased circulating lactate concentration
HP:0002747Respiratory insufficiency due to muscle weakness
HP:0003200Ragged-red muscle fibers
HP:0003327Axial muscle weakness
HP:0003457EMG abnormality
HP:0008180Mildly elevated creatine kinase
HP:0008316Abnormal mitochondria in muscle tissue
HP:0009073Progressive proximal muscle weakness
Периодический (5–29%)2
HP:0000716Depression
HP:0001256Intellectual disability, mild
Исключён (0%)1
HP:0000651Diplopia
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)