Autosomal recessive progressive external ophthalmoplegia
ORPHA:254886DiseaseAutosomal recessiveAll ages
Ассоциированные гены4
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| POLG | DNA polymerase gamma, catalytic subunit | Disease-causing germline mutation(s) in | gene with protein product | 174763 |
| TK2 | thymidine kinase 2 | Disease-causing germline mutation(s) in | gene with protein product | 188250 |
| TOP3A | DNA topoisomerase III alpha | Disease-causing germline mutation(s) in | gene with protein product | 601243 |
| RRM1 | ribonucleotide reductase catalytic subunit M1 | Disease-causing germline mutation(s) in | gene with protein product | 180410 |
Фенотипы (HPO)42
Частый (30–79%)12
HP:0000298Mask-like facies
HP:0000544External ophthalmoplegia
HP:0001638Cardiomyopathy
HP:0002015Dysphagia
HP:0003198Myopathy
HP:0003200Ragged-red muscle fibers
HP:0003390Sensory axonal neuropathy
HP:0003401Paresthesia
HP:0003688Cytochrome C oxidase-negative muscle fibers
HP:0003737Mitochondrial myopathy
HP:0009830Peripheral neuropathy
HP:0010628Facial palsy
Периодический (5–29%)27
HP:0000365Hearing impairment
HP:0000479Abnormal retinal morphology
HP:0000505Visual impairment
HP:0000508Ptosis
HP:0000648Optic atrophy
HP:0000716Depression
HP:0001251Ataxia
HP:0001265Hyporeflexia
HP:0001272Cerebellar atrophy
HP:0001621Weak voice
HP:0002059Cerebral atrophy
HP:0002067Bradykinesia
HP:0002345Action tremor
HP:0002362Shuffling gait
HP:0002396Cogwheel rigidity
HP:0002500Abnormal cerebral white matter morphology
HP:0002548Parkinsonism with favorable response to dopaminergic medication
HP:0002921Abnormality of the cerebrospinal fluid
HP:0002936Distal sensory impairment
HP:0003546Exercise intolerance
HP:0003552Muscle stiffness
HP:0003701Proximal muscle weakness
HP:0007641Dyschromatopsia
HP:0025403Stooped posture
HP:0030237Hand muscle weakness
HP:0100295Muscle fiber atrophy
HP:0100653Optic neuritis
Очень редкий (1–4%)3
HP:0003236Elevated circulating creatine kinase concentration
HP:0003691Scapular winging
HP:0100543Cognitive impairment
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)