Citrullinemia type II
ORPHA:247585DiseaseAutosomal recessiveAdult
Ассоциированные гены1
Фенотипы (HPO)46
Очень частый (80–99%)4
HP:0001397Hepatic steatosis
HP:0008281Acute hyperammonemia
HP:0011966Elevated plasma citrulline
HP:0045082Decreased body mass index
Частый (30–79%)24
HP:0000711Restlessness
HP:0000718Aggressive behavior
HP:0000737Irritability
HP:0000738Hallucinations
HP:0000746Delusion
HP:0001250Seizure
HP:0001254Lethargy
HP:0001289Confusion
HP:0001337Tremor
HP:0002155Hypertriglyceridemia
HP:0002240Hepatomegaly
HP:0002329Drowsiness
HP:0002354Memory impairment
HP:0002360Sleep abnormality
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0003073Hypoalbuminemia
HP:0003075Hypoproteinemia
HP:0003077Hyperlipidemia
HP:0007159Fluctuations in consciousness
HP:0012164Asterixis
HP:0030166Night sweats
HP:0030765Sleep terror
HP:0031258Delirium
HP:0100738Abnormal eating behavior
Периодический (5–29%)18
HP:0000709Psychosis
HP:0000752Hyperactivity
HP:0000805Enuresis
HP:0001259Coma
HP:0001263Global developmental delay
HP:0001395Hepatic fibrosis
HP:0001402Hepatocellular carcinoma
HP:0001733Pancreatitis
HP:0002013Vomiting
HP:0002014Diarrhea
HP:0002181Cerebral edema
HP:0002480Hepatic encephalopathy
HP:0003124Hypercholesterolemia
HP:0003233Decreased HDL cholesterol concentration
HP:0010529Echolalia
HP:0012569Delayed menarche
HP:0100754Mania
HP:0100785Insomnia
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)