Hyperlysinemia
ORPHA:2203DiseaseAutosomal recessiveAll ages
Ассоциированные гены1
Фенотипы (HPO)57
Частый (30–79%)22
HP:0000252Microcephaly
HP:0000708Atypical behavior
HP:0000736Short attention span
HP:0000750Delayed speech and language development
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001263Global developmental delay
HP:0001987Hyperammonemia
HP:0002161Hyperlysinemia
HP:0003131Cystinuria
HP:0003268Argininuria
HP:0003297Hyperlysinuria
HP:0004322Short stature
HP:0008947Floppy infant
HP:0010850EEG with spike-wave complexes
HP:0012379Abnormal enzyme/coenzyme activity
HP:0012403Decreased urine alpha-ketoglutarate concentration
HP:0012758Neurodevelopmental delay
HP:0500163Hypoornithinemia
HP:0500204Decreased CSF arginine concentration
HP:0500208Increased CSF lysine concentration
HP:0500243Abnormal CSF ornithine concentration
Периодический (5–29%)35
HP:0025331Upgaze palsy
HP:0030051Tip-toe gait
HP:0031867Neck hypertonia
HP:0040288Nasogastric tube feeding
HP:0045074Thin eyebrow
HP:0100022Abnormality of movement
HP:0000218High palate
HP:0000319Smooth philtrum
HP:0000457Depressed nasal ridge
HP:0000486Strabismus
HP:0000601Hypotelorism
HP:0000752Hyperactivity
HP:0001264Spastic diplegia
HP:0001285Spastic tetraparesis
HP:0001310Dysmetria
HP:0001337Tremor
HP:0001348Brisk reflexes
HP:0001363Craniosynostosis
HP:0001508Failure to thrive
HP:0001999Abnormal facial shape
HP:0002013Vomiting
HP:0002015Dysphagia
HP:0002020Gastroesophageal reflux
HP:0002033Poor suck
HP:0002179Opisthotonus
HP:0002275Poor motor coordination
HP:0002312Clumsiness
HP:0004971Pulmonary artery hypoplasia
HP:0006532Recurrent pneumonia
HP:0006889Intellectual disability, borderline
HP:0008589Hypoplastic helices
HP:0009739Hypoplasia of the antihelix
HP:0011171Simple febrile seizures
HP:0011342Mild global developmental delay
HP:0011968Feeding difficulties
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)