Mitochondrial neurogastrointestinal encephalomyopathy
ORPHA:298DiseaseAutosomal recessiveAdolescent, Adult, Childhood
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 |
| TYMP | thymidine phosphorylase | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 131222 |
| RRM2B | ribonucleotide reductase regulatory TP53 inducible subunit M2B | Disease-causing germline mutation(s) in | gene with protein product | 604712 |
| LIG3 | DNA ligase 3 | Disease-causing germline mutation(s) in | gene with protein product | 600940 |
Фенотипы (HPO)48
Очень частый (80–99%)14
HP:0000544External ophthalmoplegia
HP:0002013Vomiting
HP:0002015Dysphagia
HP:0002018Nausea
HP:0002020Gastroesophageal reflux
HP:0002027Abdominal pain
HP:0002352Leukoencephalopathy
HP:0002579Gastrointestinal dysmotility
HP:0003270Abdominal distention
HP:0004326Cachexia
HP:0004396Poor appetite
HP:0007141Sensorimotor neuropathy
HP:0012850Small intestinal dysmotility
HP:0025149Atrophic muscularis propria
Частый (30–79%)25
HP:0000407Sensorineural hearing impairment
HP:0000508Ptosis
HP:0000597Ophthalmoparesis
HP:0001155Abnormality of the hand
HP:0001824Weight loss
HP:0002014Diarrhea
HP:0002460Distal muscle weakness
HP:0002500Abnormal cerebral white matter morphology
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0002922Increased CSF protein concentration
HP:0003128Lactic acidosis
HP:0003200Ragged-red muscle fibers
HP:0003348Hyperalaninemia
HP:0003387Decreased number of large peripheral myelinated nerve fibers
HP:0003388Easy fatigability
HP:0003401Paresthesia
HP:0003431Decreased motor nerve conduction velocity
HP:0003448Decreased sensory nerve conduction velocity
HP:0003477Peripheral axonal neuropathy
HP:0007108Demyelinating peripheral neuropathy
HP:0008049Abnormality of the extraocular muscles
HP:0009027Foot dorsiflexor weakness
HP:0009830Peripheral neuropathy
HP:0011024Abnormality of the gastrointestinal tract
HP:0012103Abnormality of the mitochondrion
Периодический (5–29%)8
HP:0000044Hypogonadotropic hypogonadism
HP:0000815Hypergonadotropic hypogonadism
HP:0001249Intellectual disability
HP:0001394Cirrhosis
HP:0001403Macrovesicular hepatic steatosis
HP:0001903Anemia
HP:0003199Decreased muscle mass
HP:0025461Abnormal cell morphology
Очень редкий (1–4%)1
HP:0000726Dementia
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.1 | Europe | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.3 | Israel | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.5 | Specific population | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)