Kearns-Sayre syndrome
ORPHA:480DiseaseAutosomal recessive, Mitochondrial inheritance, Not applicableAdolescent, Adult, Childhood, Infancy
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| MT-ATP8 | mitochondrially encoded ATP synthase membrane subunit 8 | Candidate gene tested in | gene with protein product | 516070 |
| RRM2B | ribonucleotide reductase regulatory TP53 inducible subunit M2B | Disease-causing germline mutation(s) in | gene with protein product | 604712 |
| MT-TL1 | mitochondrially encoded tRNA-Leu (UUA/G) 1 | Candidate gene tested in | Non-coding RNA | 590050 |
Фенотипы (HPO)30
Очень частый (80–99%)3
HP:0000580Pigmentary retinopathy
HP:0000590Progressive external ophthalmoplegia
HP:0001709Third degree atrioventricular block
Частый (30–79%)11
HP:0000365Hearing impairment
HP:0000508Ptosis
HP:0000830Anterior hypopituitarism
HP:0001251Ataxia
HP:0001252Hypotonia
HP:0001315Reduced tendon reflexes
HP:0002922Increased CSF protein concentration
HP:0003200Ragged-red muscle fibers
HP:0003202Skeletal muscle atrophy
HP:0003457EMG abnormality
HP:0004622Progressive intervertebral space narrowing
Периодический (5–29%)16
HP:0000467Neck muscle weakness
HP:0000726Dementia
HP:0000819Diabetes mellitus
HP:0000823Delayed puberty
HP:0000829Hypoparathyroidism
HP:0001324Muscle weakness
HP:0001337Tremor
HP:0001638Cardiomyopathy
HP:0001947Renal tubular acidosis
HP:0002015Dysphagia
HP:0002750Delayed skeletal maturation
HP:0003546Exercise intolerance
HP:0004322Short stature
HP:0004374Hemiplegia/hemiparesis
HP:0012622Chronic kidney disease
HP:0100543Cognitive impairment
Эпидемиология4
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 2 | Europe | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.8 | Finland | Value and class |
| Point prevalence | 1-9 / 100 000 | 1 | United Kingdom | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.3 | Israel | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)