Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
ORPHA:415DiseaseAutosomal recessiveAdolescent, Adult, Childhood, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)40
Очень частый (80–99%)6
HP:0001347Hyperreflexia
HP:0001987Hyperammonemia
HP:0011965Abnormality of citrulline metabolism
HP:0012026Hyperornithinemia
HP:0012758Neurodevelopmental delay
HP:0100543Cognitive impairment
Частый (30–79%)24
HP:0001249Intellectual disability
HP:0001254Lethargy
HP:0001258Spastic paraplegia
HP:0001289Confusion
HP:0001290Generalized hypotonia
HP:0001328Specific learning disability
HP:0001410Decreased liver function
HP:0001508Failure to thrive
HP:0002038Protein avoidance
HP:0002073Progressive cerebellar ataxia
HP:0002120Cerebral cortical atrophy
HP:0002169Clonus
HP:0002240Hepatomegaly
HP:0002370Poor coordination
HP:0002495Impaired vibratory sensation
HP:0002572Episodic vomiting
HP:0002789Tachypnea
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0003218Oroticaciduria
HP:0006846Acute encephalopathy
HP:0007256Abnormal pyramidal sign
HP:0011098Speech apraxia
HP:0011968Feeding difficulties
HP:0012115Hepatitis
Периодический (5–29%)7
HP:0001250Seizure
HP:0001259Coma
HP:0001950Respiratory alkalosis
HP:0002064Spastic gait
HP:0002123Generalized myoclonic seizure
HP:0003256Abnormality of the coagulation cascade
HP:0007052Multifocal cerebral white matter abnormalities
Очень редкий (1–4%)3
HP:0000533Chorioretinal atrophy
HP:0001399Hepatic failure
HP:0040030Chorioretinal hypopigmentation
Эпидемиология4
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only |
| Cases/families | — | 111 | Worldwide | Case(s) |
| Prevalence at birth | <1 / 1 000 000 | — | United States | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)