Ornithine transcarbamylase deficiency
ORPHA:664DiseaseX-linked recessiveAll ages
Ассоциированные гены1
Фенотипы (HPO)29
Очень частый (80–99%)5
HP:0001399Hepatic failure
HP:0001744Splenomegaly
HP:0001943Hypoglycemia
HP:0001987Hyperammonemia
HP:0003355Aminoaciduria
Частый (30–79%)15
HP:0001250Seizure
HP:0001252Hypotonia
HP:0001254Lethargy
HP:0001259Coma
HP:0001298Encephalopathy
HP:0001950Respiratory alkalosis
HP:0002033Poor suck
HP:0002038Protein avoidance
HP:0002039Anorexia
HP:0002045Hypothermia
HP:0002329Drowsiness
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0003218Oroticaciduria
HP:0003572Low plasma citrulline
HP:0005961Hypoargininemia
Периодический (5–29%)9
HP:0000716Depression
HP:0000739Anxiety
HP:0001328Specific learning disability
HP:0001508Failure to thrive
HP:0002572Episodic vomiting
HP:0002908Conjugated hyperbilirubinemia
HP:0003645Prolonged partial thromboplastin time
HP:0007018Attention deficit hyperactivity disorder
HP:0031258Delirium
Эпидемиология7
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1 | Europe | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.4 | Italy | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.29 | Australia | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.6 | Finland | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.88 | Canada | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.77 | United States | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.77 | Worldwide | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)