Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome
ORPHA:363400DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)37
Облигатный (100%)1
HP:0002448Progressive encephalopathy
Очень частый (80–99%)7
HP:0000842Hyperinsulinemia
HP:0000855Insulin resistance
HP:0003758Reduced subcutaneous adipose tissue
HP:0007272Progressive psychomotor deterioration
HP:0009064Generalized lipodystrophy
HP:0025128Reduced intraabdominal adipose tissue
HP:0100543Cognitive impairment
Частый (30–79%)14
HP:0000280Coarse facial features
HP:0000750Delayed speech and language development
HP:0001250Seizure
HP:0001251Ataxia
HP:0001257Spasticity
HP:0001336Myoclonus
HP:0001337Tremor
HP:0001347Hyperreflexia
HP:0001348Brisk reflexes
HP:0001397Hepatic steatosis
HP:0002155Hypertriglyceridemia
HP:0002275Poor motor coordination
HP:0002360Sleep abnormality
HP:0007256Abnormal pyramidal sign
Периодический (5–29%)14
HP:0000752Hyperactivity
HP:0000822Hypertension
HP:0000956Acanthosis nigricans
HP:0001394Cirrhosis
HP:0002059Cerebral atrophy
HP:0002066Gait ataxia
HP:0002230Generalized hirsutism
HP:0002240Hepatomegaly
HP:0002273Tetraparesis
HP:0002340Caudate atrophy
HP:0002451Limb dystonia
HP:0002529Neuronal loss in central nervous system
HP:0002878Respiratory failure
HP:0003198Myopathy
Очень редкий (1–4%)1
HP:0002133Status epilepticus
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 10 | 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)