Hereditary folate malabsorption
ORPHA:90045DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)25
Очень частый (80–99%)12
HP:0000206Glossitis
HP:0000980Pallor
HP:0001263Global developmental delay
HP:0001508Failure to thrive
HP:0001889Megaloblastic anemia
HP:0002014Diarrhea
HP:0002017Nausea and vomiting
HP:0002039Anorexia
HP:0002715Abnormality of the immune system
HP:0004313Decreased circulating antibody level
HP:0100022Abnormality of movement
HP:0100825Cheilitis
Частый (30–79%)4
HP:0000708Atypical behavior
HP:0001250Seizure
HP:0002020Gastroesophageal reflux
HP:0009830Peripheral neuropathy
Периодический (5–29%)9
HP:0000010Recurrent urinary tract infections
HP:0001347Hyperreflexia
HP:0001873Thrombocytopenia
HP:0001876Pancytopenia
HP:0001880Eosinophilia
HP:0002205Recurrent respiratory infections
HP:0002514Cerebral calcification
HP:0002721Immunodeficiency
HP:0003202Skeletal muscle atrophy
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 30 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)