Genetic recurrent myoglobinuria
ORPHA:99845DiseaseAutosomal dominant, Autosomal recessive, Not applicableChildhood
Ассоциированные гены4
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| MT-CO1 | mitochondrially encoded cytochrome c oxidase I | Disease-causing germline mutation(s) in | gene with protein product | 516030 |
| MT-CO3 | mitochondrially encoded cytochrome c oxidase III | Disease-causing germline mutation(s) in | gene with protein product | 516050 |
| LPIN1 | lipin 1 | Disease-causing germline mutation(s) in | gene with protein product | 605518 |
| OBSCN | obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF | Disease-causing germline mutation(s) in | gene with protein product | 608616 |
Фенотипы (HPO)32
Облигатный (100%)1
HP:0003652Recurrent myoglobinuria
Очень частый (80–99%)4
HP:0001324Muscle weakness
HP:0001945Fever
HP:0030234Highly elevated creatine kinase
HP:0040319Dark urine
Частый (30–79%)11
HP:0000083Renal insufficiency
HP:0001315Reduced tendon reflexes
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0003554Type 2 muscle fiber atrophy
HP:0003558Viral infection-induced rhabdomyolysis
HP:0003738Exercise-induced myalgia
HP:0008305Exercise-induced myoglobinuria
HP:0010969Abnormality of glycolipid metabolism
HP:0012544Elevated circulating aldolase concentration
HP:0025435Increased circulating lactate dehydrogenase concentration
HP:0100614Myositis
Периодический (5–29%)15
HP:0001288Gait disturbance
HP:0000467Neck muscle weakness
HP:0001919Acute kidney injury
HP:0002153Hyperkalemia
HP:0002167Abnormality of speech or vocalization
HP:0002901Hypocalcemia
HP:0002905Hyperphosphatemia
HP:0003394Muscle spasm
HP:0005216Impaired mastication
HP:0007340Lower limb muscle weakness
HP:0008997Proximal muscle weakness in upper limbs
HP:0011675Arrhythmia
HP:0030195Fatigable weakness of swallowing muscles
HP:0045037Abnormality of jaw muscles
HP:0100520Oliguria
Очень редкий (1–4%)1
HP:0005521Disseminated intravascular coagulation
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)