DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect
ORPHA:330050Etiological subtypeAutosomal dominantChildhood, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)30
Очень частый (80–99%)1
HP:0012103Abnormality of the mitochondrion
Частый (30–79%)11
HP:0000639Nystagmus
HP:0000648Optic atrophy
HP:0001250Seizure
HP:0001263Global developmental delay
HP:0001344Absent speech
HP:0002133Status epilepticus
HP:0002151Increased circulating lactate concentration
HP:0002376Developmental regression
HP:0002540Inability to walk
HP:0012707Elevated brain lactate level by MRS
HP:0410263Brain imaging abnormality
Периодический (5–29%)18
HP:0000486Strabismus
HP:0001272Cerebellar atrophy
HP:0001288Gait disturbance
HP:0001332Dystonia
HP:0001337Tremor
HP:0001488Bilateral ptosis
HP:0002069Bilateral tonic-clonic seizure
HP:0002123Generalized myoclonic seizure
HP:0002381Aphasia
HP:0002384Focal impaired awareness seizure
HP:0002506Diffuse cerebral atrophy
HP:0002650Scoliosis
HP:0003202Skeletal muscle atrophy
HP:0006801Hyperactive deep tendon reflexes
HP:0007359Focal-onset seizure
HP:0010553Oculogyric crisis
HP:0011471Gastrostomy tube feeding in infancy
HP:0012569Delayed menarche
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 11 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)