Imerslund-Gräsbeck syndrome
ORPHA:35858DiseaseAutosomal recessiveChildhood
Ассоциированные гены2
Фенотипы (HPO)30
Облигатный (100%)3
HP:0100502Decreased circulating vitamin B12 concentration
HP:0200118Malabsorption of Vitamin B12
HP:0410216Abnormal blood 5-methyltetrahydrofolate level
Очень частый (80–99%)3
HP:0001889Megaloblastic anemia
HP:0001972Macrocytic anemia
HP:0004821Hypersegmentation of neutrophil nuclei
Частый (30–79%)7
HP:0000093Proteinuria
HP:0000980Pallor
HP:0001875Decreased total neutrophil count
HP:0001923Reticulocytosis
HP:0004823Anisopoikilocytosis
HP:0020061Abnormal hemoglobin concentration
HP:0032566Oval macrocytosis
Периодический (5–29%)16
HP:0000750Delayed speech and language development
HP:0001252Hypotonia
HP:0001508Failure to thrive
HP:0001649Tachycardia
HP:0001824Weight loss
HP:0001873Thrombocytopenia
HP:0001876Pancytopenia
HP:0001892Abnormal bleeding
HP:0002013Vomiting
HP:0000206Glossitis
HP:0000707Abnormality of the nervous system
HP:0002019Constipation
HP:0002376Developmental regression
HP:0004396Poor appetite
HP:0030318Angular cheilitis
HP:0031936Delayed ability to walk
Очень редкий (1–4%)1
HP:0002721Immunodeficiency
Эпидемиология4
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.5 | Finland | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.5 | Norway | Value and class |
| Point prevalence | Unknown | — | Worldwide | Class only |
| Point prevalence | 1-9 / 1 000 000 | 0.5 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)