Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
ORPHA:508542DiseaseAutosomal recessiveNeonatal
Ассоциированные гены1
Фенотипы (HPO)38
Очень частый (80–99%)2
HP:0001903Anemia
HP:0005528Bone marrow hypocellularity
Частый (30–79%)17
HP:0000280Coarse facial features
HP:0001249Intellectual disability
HP:0001635Congestive heart failure
HP:0001873Thrombocytopenia
HP:0001875Decreased total neutrophil count
HP:0001882Leukopenia
HP:0001888Lymphopenia
HP:0001896Reticulocytopenia
HP:0001999Abnormal facial shape
HP:0002788Recurrent upper respiratory tract infections
HP:0002863Myelodysplasia
HP:0004322Short stature
HP:0006872Cerebral hypoplasia
HP:0010976Decreased total B cell count
HP:0012758Neurodevelopmental delay
HP:0031688Erythroid dysplasia
HP:0031689Megakaryocyte dysplasia
Периодический (5–29%)19
HP:0000212Gingival overgrowth
HP:0000243Trigonocephaly
HP:0000365Hearing impairment
HP:0000518Cataract
HP:0000684Delayed eruption of teeth
HP:0000765Abnormal thorax morphology
HP:0000916Broad clavicles
HP:0000958Dry skin
HP:0000964Eczematoid dermatitis
HP:0001156Brachydactyly
HP:0001482Subcutaneous nodule
HP:0002783Recurrent lower respiratory tract infections
HP:0004991Rhizomelic arm shortening
HP:0005180Tricuspid regurgitation
HP:0005792Short humerus
HP:0010049Short metacarpal
HP:0011800Midface retrusion
HP:0012490Panniculitis
HP:0012817Noncompaction cardiomyopathy
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 5 | 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)