Autosomal dominant progressive external ophthalmoplegia
ORPHA:254892DiseaseAutosomal dominantAdolescent, Adult
Ассоциированные гены5
| 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 |
| POLG2 | DNA polymerase gamma 2, accessory subunit | Disease-causing germline mutation(s) in | gene with protein product | 604983 |
| SLC25A4 | solute carrier family 25 member 4 | Disease-causing germline mutation(s) in | gene with protein product | 103220 |
| TWNK | twinkle mtDNA helicase | Disease-causing germline mutation(s) in | gene with protein product | 606075 |
| RRM2B | ribonucleotide reductase regulatory TP53 inducible subunit M2B | Disease-causing germline mutation(s) in | gene with protein product | 604712 |
Фенотипы (HPO)81
Очень частый (80–99%)2
HP:0000508Ptosis
HP:0000544External ophthalmoplegia
Частый (30–79%)18
HP:0000338Hypomimic face
HP:0000496Abnormality of eye movement
HP:0000597Ophthalmoparesis
HP:0000602Ophthalmoplegia
HP:0002067Bradykinesia
HP:0002322Resting tremor
HP:0003198Myopathy
HP:0003200Ragged-red muscle fibers
HP:0003458EMG: myopathic abnormalities
HP:0003546Exercise intolerance
HP:0003547Shoulder girdle muscle weakness
HP:0003688Cytochrome C oxidase-negative muscle fibers
HP:0003690Limb muscle weakness
HP:0003731Quadriceps muscle weakness
HP:0003737Mitochondrial myopathy
HP:0010628Facial palsy
HP:0012103Abnormality of the mitochondrion
HP:0012378Fatigue
Периодический (5–29%)42
HP:0000365Hearing impairment
HP:0000505Visual impairment
HP:0000518Cataract
HP:0000716Depression
HP:0000739Anxiety
HP:0001251Ataxia
HP:0001254Lethargy
HP:0001260Dysarthria
HP:0001265Hyporeflexia
HP:0001272Cerebellar atrophy
HP:0001288Gait disturbance
HP:0001290Generalized hypotonia
HP:0001337Tremor
HP:0001349Facial diplegia
HP:0001508Failure to thrive
HP:0001644Dilated cardiomyopathy
HP:0001712Left ventricular hypertrophy
HP:0001952Glucose intolerance
HP:0002015Dysphagia
HP:0002019Constipation
HP:0002020Gastroesophageal reflux
HP:0002063Rigidity
HP:0002066Gait ataxia
HP:0002071Abnormality of extrapyramidal motor function
HP:0002093Respiratory insufficiency
HP:0002151Increased circulating lactate concentration
HP:0002359Frequent falls
HP:0002375Hypokinesia
HP:0002396Cogwheel rigidity
HP:0002578Gastroparesis
HP:0002875Exertional dyspnea
HP:0003236Elevated circulating creatine kinase concentration
HP:0003326Myalgia
HP:0003388Easy fatigability
HP:0003477Peripheral axonal neuropathy
HP:0003551Difficulty climbing stairs
HP:0004308Ventricular arrhythmia
HP:0005110Atrial fibrillation
HP:0007042Focal white matter lesions
HP:0009830Peripheral neuropathy
HP:0011675Arrhythmia
HP:0012664Reduced left ventricular ejection fraction
Очень редкий (1–4%)19
HP:0000017Nocturia
HP:0000819Diabetes mellitus
HP:0000821Hypothyroidism
HP:0000836Hyperthyroidism
HP:0000853Goiter
HP:0000939Osteoporosis
HP:0000969Edema
HP:0001250Seizure
HP:0001276Hypertonia
HP:0001392Abnormality of the liver
HP:0001946Ketosis
HP:0001962Palpitations
HP:0002076Migraine
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0003394Muscle spasm
HP:0003438Absent Achilles reflex
HP:0007302Bipolar affective disorder
HP:0100543Cognitive impairment
HP:0100704Cerebral visual impairment
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)