Short-limb skeletal dysplasia with severe combined immunodeficiency
ORPHA:935DiseaseNot applicableInfancy, Neonatal
Фенотипы (HPO)18
Очень частый (80–99%)5
HP:0000944Abnormal metaphysis morphology
HP:0001888Lymphopenia
HP:0002205Recurrent respiratory infections
HP:0004430Severe combined immunodeficiency
HP:0005374Cellular immunodeficiency
Частый (30–79%)4
HP:0002213Fine hair
HP:0004349Reduced bone mineral density
HP:0004422Biparietal narrowing
HP:0004432Agammaglobulinemia
Периодический (5–29%)9
HP:0000023Inguinal hernia
HP:0000767Pectus excavatum
HP:0001732Abnormality of the pancreas
HP:0001903Anemia
HP:0002024Malabsorption
HP:0002251Aganglionic megacolon
HP:0003085Long fibula
HP:0011364White hair
HP:0100543Cognitive impairment
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 19 | 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)