Argininosuccinic aciduria
ORPHA:23DiseaseAutosomal recessiveAll ages
Ассоциированные гены1
Фенотипы (HPO)51
Очень частый (80–99%)4
HP:0001987Hyperammonemia
HP:0003217Hyperglutaminemia
HP:0003355Aminoaciduria
HP:0005961Hypoargininemia
Частый (30–79%)18
HP:0000822Hypertension
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001251Ataxia
HP:0001254Lethargy
HP:0001328Specific learning disability
HP:0001950Respiratory alkalosis
HP:0002013Vomiting
HP:0002240Hepatomegaly
HP:0002329Drowsiness
HP:0002353EEG abnormality
HP:0002789Tachypnea
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0011966Elevated plasma citrulline
HP:0012758Neurodevelopmental delay
HP:0025630Argininosuccinic aciduria
HP:0032470Monilethrix
HP:0032491Increased circulating argininosuccinic acid
Периодический (5–29%)28
HP:0000083Renal insufficiency
HP:0000670Carious teeth
HP:0000709Psychosis
HP:0000742Self-mutilation
HP:0000750Delayed speech and language development
HP:0000964Eczematoid dermatitis
HP:0001270Motor delay
HP:0001324Muscle weakness
HP:0001332Dystonia
HP:0001337Tremor
HP:0001394Cirrhosis
HP:0001395Hepatic fibrosis
HP:0001399Hepatic failure
HP:0001894Thrombocytosis
HP:0002014Diarrhea
HP:0002155Hypertriglyceridemia
HP:0002232Patchy alopecia
HP:0002283Global brain atrophy
HP:0002900Hypokalemia
HP:0003218Oroticaciduria
HP:0003777Pili torti
HP:0006280Chronic pancreatitis
HP:0006970Periventricular leukomalacia
HP:0007018Attention deficit hyperactivity disorder
HP:0007183Focal T2 hyperintense basal ganglia lesion
HP:0009886Trichorrhexis nodosa
HP:0011362Abnormal hair quantity
HP:0011675Arrhythmia
Очень редкий (1–4%)1
HP:0001402Hepatocellular carcinoma
Эпидемиология4
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.46 | United States | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.69 | Finland | Value and class |
| Point prevalence | 1-9 / 100 000 | 1 | Europe | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.05 | Austria | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)