MELAS
ORPHA:550DiseaseMitochondrial inheritance, Not applicableAdolescent, Adult, Childhood
Ассоциированные гены14
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| MT-TQ | mitochondrially encoded tRNA-Gln (CAA/G) | Candidate gene tested in | Non-coding RNA | 590030 |
| MT-CO1 | mitochondrially encoded cytochrome c oxidase I | Disease-causing germline mutation(s) in | gene with protein product | 516030 |
| MT-CO2 | mitochondrially encoded cytochrome c oxidase II | Disease-causing germline mutation(s) in | gene with protein product | 516040 |
| MT-CO3 | mitochondrially encoded cytochrome c oxidase III | Candidate gene tested in | gene with protein product | 516050 |
| MT-ND1 | mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Disease-causing germline mutation(s) in | gene with protein product | 516000 |
| MT-ND4 | mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Disease-causing germline mutation(s) in | gene with protein product | 516003 |
| MT-ND5 | mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Disease-causing germline mutation(s) in | gene with protein product | 516005 |
| MT-ND6 | mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Disease-causing germline mutation(s) in | gene with protein product | 516006 |
| MT-TL1 | mitochondrially encoded tRNA-Leu (UUA/G) 1 | Disease-causing germline mutation(s) in | Non-coding RNA | 590050 |
| MT-TW | mitochondrially encoded tRNA-Trp (UGA/G) | Disease-causing germline mutation(s) in | Non-coding RNA | 590095 |
| MT-TH | mitochondrially encoded tRNA-His (CAU/C) | Candidate gene tested 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 |
Фенотипы (HPO)87
Очень частый (80–99%)13
HP:0000726Dementia
HP:0001250Seizure
HP:0001324Muscle weakness
HP:0002076Migraine
HP:0002151Increased circulating lactate concentration
HP:0002353EEG abnormality
HP:0002381Aphasia
HP:0002401Stroke-like episode
HP:0003128Lactic acidosis
HP:0003200Ragged-red muscle fibers
HP:0008316Abnormal mitochondria in muscle tissue
HP:0012429Aplasia/Hypoplasia of the cerebral white matter
HP:0012766Widened cerebral subarachnoid space
Частый (30–79%)26
HP:0000407Sensorineural hearing impairment
HP:0000572Visual loss
HP:0000709Psychosis
HP:0000716Depression
HP:0000736Short attention span
HP:0000739Anxiety
HP:0000819Diabetes mellitus
HP:0001251Ataxia
HP:0001269Hemiparesis
HP:0001288Gait disturbance
HP:0001298Encephalopathy
HP:0001328Specific learning disability
HP:0001336Myoclonus
HP:0002013Vomiting
HP:0002069Bilateral tonic-clonic seizure
HP:0002135Basal ganglia calcification
HP:0002331Recurrent paroxysmal headache
HP:0002354Memory impairment
HP:0002490Increased CSF lactate
HP:0002922Increased CSF protein concentration
HP:0003198Myopathy
HP:0004322Short stature
HP:0007159Fluctuations in consciousness
HP:0007359Focal-onset seizure
HP:0009830Peripheral neuropathy
HP:0010794Impaired visuospatial constructive cognition
Периодический (5–29%)45
HP:0000093Proteinuria
HP:0000097Focal segmental glomerulosclerosis
HP:0000112Nephropathy
HP:0000114Proximal tubulopathy
HP:0000580Pigmentary retinopathy
HP:0000590Progressive external ophthalmoplegia
HP:0000648Optic atrophy
HP:0000751Personality changes
HP:0000998Hypertrichosis
HP:0001045Vitiligo
HP:0001263Global developmental delay
HP:0001270Motor delay
HP:0001274Agenesis of corpus callosum
HP:0001345Psychotic mentation
HP:0001508Failure to thrive
HP:0001638Cardiomyopathy
HP:0001639Hypertrophic cardiomyopathy
HP:0001644Dilated cardiomyopathy
HP:0001716Wolff-Parkinson-White syndrome
HP:0001903Anemia
HP:0001945Fever
HP:0002014Diarrhea
HP:0002019Constipation
HP:0002079Hypoplasia of the corpus callosum
HP:0002092Pulmonary arterial hypertension
HP:0002120Cerebral cortical atrophy
HP:0002579Gastrointestinal dysmotility
HP:0003477Peripheral axonal neuropathy
HP:0003546Exercise intolerance
HP:0004372Reduced consciousness/confusion
HP:0004389Intestinal pseudo-obstruction
HP:0005157Concentric hypertrophic cardiomyopathy
HP:0005978Type II diabetes mellitus
HP:0007067Distal peripheral sensory neuropathy
HP:0007141Sensorimotor neuropathy
HP:0007302Bipolar affective disorder
HP:0007327Mixed demyelinating and axonal polyneuropathy
HP:0010783Erythema
HP:0011442Abnormality of central motor function
HP:0012444Brain atrophy
HP:0012707Elevated brain lactate level by MRS
HP:0025268Stuttering
HP:0031546Cardiac conduction abnormality
HP:0100027Recurrent pancreatitis
HP:0100651Type I diabetes mellitus
Очень редкий (1–4%)3
HP:0000044Hypogonadotropic hypogonadism
HP:0000821Hypothyroidism
HP:0000829Hypoparathyroidism
Эпидемиология5
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.18 | Japan | Value and class |
| Point prevalence | Unknown | — | Worldwide | Class only |
| Point prevalence | 1-9 / 1 000 000 | 0.6 | Europe | Value and class |
| Point prevalence | 1-9 / 100 000 | 1.63 | Finland | Value and class |
| Point prevalence | >1 / 1000 | 236 | Specific population | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)