Purine nucleoside phosphorylase deficiency
ORPHA:760DiseaseAutosomal recessiveAdolescent, Childhood, Infancy
Ассоциированные гены1
Фенотипы (HPO)29
Очень частый (80–99%)2
HP:0002843Abnormal T cell morphology
HP:0011935Decreased urinary urate
Частый (30–79%)9
HP:0000707Abnormality of the nervous system
HP:0001890Autoimmune hemolytic anemia
HP:0002205Recurrent respiratory infections
HP:0002719Recurrent infections
HP:0002960Autoimmunity
HP:0003537Hypouricemia
HP:0004430Severe combined immunodeficiency
HP:0005363Humoral immunodeficiency
HP:0032166Unusual gastrointestinal infection
Периодический (5–29%)14
HP:0000708Atypical behavior
HP:0000752Hyperactivity
HP:0001249Intellectual disability
HP:0001251Ataxia
HP:0001252Hypotonia
HP:0001257Spasticity
HP:0001263Global developmental delay
HP:0001276Hypertonia
HP:0001888Lymphopenia
HP:0002313Spastic paraparesis
HP:0002664Neoplasm
HP:0011442Abnormality of central motor function
HP:0045080Decreased proportion of CD3-positive T cells
HP:0100021Cerebral palsy
Очень редкий (1–4%)4
HP:0000407Sensorineural hearing impairment
HP:0001297Stroke
HP:0001973Autoimmune thrombocytopenia
HP:0002725Systemic lupus erythematosus
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 72 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)