Hyperprolinemia type 2
ORPHA:79101DiseaseAutosomal recessiveAll ages
Ассоциированные гены1
Фенотипы (HPO)51
Очень частый (80–99%)10
HP:0000708Atypical behavior
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001263Global developmental delay
HP:0002921Abnormality of the cerebrospinal fluid
HP:0003080Hydroxyprolinuria
HP:0003137Prolinuria
HP:0008358Hyperprolinemia
HP:0012379Abnormal enzyme/coenzyme activity
HP:0012402Increased urine alpha-ketoglutarate concentration
Частый (30–79%)12
HP:0000750Delayed speech and language development
HP:0002154Hyperglycinemia
HP:0002197Generalized-onset seizure
HP:0002317Unsteady gait
HP:0002360Sleep abnormality
HP:0002922Increased CSF protein concentration
HP:0003348Hyperalaninemia
HP:0003394Muscle spasm
HP:0003546Exercise intolerance
HP:0008326Reduced circulating vitamin B6 level
HP:0011199EEG with generalized sharp slow waves
HP:0012432Chronic fatigue
Периодический (5–29%)29
HP:0000083Renal insufficiency
HP:0000496Abnormality of eye movement
HP:0000511Vertical supranuclear gaze palsy
HP:0000597Ophthalmoparesis
HP:0000716Depression
HP:0000718Aggressive behavior
HP:0000729Autistic behavior
HP:0000736Short attention span
HP:0000738Hallucinations
HP:0000739Anxiety
HP:0001284Areflexia
HP:0001289Confusion
HP:0001298Encephalopathy
HP:0001345Psychotic mentation
HP:0002014Diarrhea
HP:0002015Dysphagia
HP:0002027Abdominal pain
HP:0002133Status epilepticus
HP:0002373Febrile seizure (within the age range of 3 months to 6 years)
HP:0002490Increased CSF lactate
HP:0002936Distal sensory impairment
HP:0003326Myalgia
HP:0009088Speech articulation difficulties
HP:0009830Peripheral neuropathy
HP:0010819Atonic seizure
HP:0011152Early onset absence seizures
HP:0011342Mild global developmental delay
HP:0011968Feeding difficulties
HP:0012534Dysesthesia
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)