MERRF

ORPHA:551DiseaseMitochondrial inheritanceAdult, Childhood

Ассоциированные гены10

Ген	Полное название	Тип связи	Тип гена	OMIM
MT-TP	mitochondrially encoded tRNA-Pro (CCN)	Disease-causing germline mutation(s) in	Non-coding RNA	590075
MT-ND5	mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5	Disease-causing germline mutation(s) in	gene with protein product	516005
MT-TL1	mitochondrially encoded tRNA-Leu (UUA/G) 1	Disease-causing germline mutation(s) in	Non-coding RNA	590050
MT-TK	mitochondrially encoded tRNA-Lys (AAA/G)	Disease-causing germline mutation(s) in	Non-coding RNA	590060
MT-RNR1	mitochondrially encoded 12S rRNA	Candidate gene tested in	Non-coding RNA	561000
MT-TQ	mitochondrially encoded tRNA-Gln (CAA/G)	Candidate gene tested in	Non-coding RNA	590030
MT-TH	mitochondrially encoded tRNA-His (CAU/C)	Disease-causing germline mutation(s) in	Non-coding RNA	590040
MT-TS1	mitochondrially encoded tRNA-Ser (UCN) 1	Disease-causing germline mutation(s) in	Non-coding RNA	590080
MT-TS2	mitochondrially encoded tRNA-Ser (AGU/C) 2	Candidate gene tested in	Non-coding RNA	590085
MT-TF	mitochondrially encoded tRNA-Phe (UUU/C)	Disease-causing germline mutation(s) in	Non-coding RNA	590070

Очень частый (80–99%)7

HP:0000407Sensorineural hearing impairment

HP:0001251Ataxia

HP:0002123Generalized myoclonic seizure

HP:0003198Myopathy

HP:0003200Ragged-red muscle fibers

HP:0003457EMG abnormality

HP:0100022Abnormality of movement

Частый (30–79%)4

HP:0000648Optic atrophy

HP:0001012Multiple lipomas

HP:0004322Short stature

HP:0100543Cognitive impairment

Тип оценки	Класс распространённости	Среднее (на 100к)	Регион	Квалификация
Prevalence at birth	1-9 / 1 000 000	0.494	Sweden	Value and class
Point prevalence	Unknown	—	Europe	Class only

Источник: Open Targets Platform (в реальном времени)

Источник: ClinicalTrials.gov (в реальном времени)