Nijmegen breakage syndrome
ORPHA:647Malformation syndromeAutosomal recessiveAntenatal, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)49
Очень частый (80–99%)31
HP:0000252Microcephaly
HP:0000271Abnormality of the face
HP:0000278Retrognathia
HP:0000294Low anterior hairline
HP:0000340Sloping forehead
HP:0000364Hearing abnormality
HP:0000400Macrotia
HP:0000426Prominent nasal bridge
HP:0000444Convex nasal ridge
HP:0000448Prominent nose
HP:0000470Short neck
HP:0000582Upslanted palpebral fissure
HP:0001268Mental deterioration
HP:0001595Abnormality of the hair
HP:0001873Thrombocytopenia
HP:0001878Hemolytic anemia
HP:0001890Autoimmune hemolytic anemia
HP:0002002Deep philtrum
HP:0002023Anal atresia
HP:0002025Anal stenosis
HP:0002028Chronic diarrhea
HP:0002205Recurrent respiratory infections
HP:0003220Abnormality of chromosome stability
HP:0004322Short stature
HP:0004326Cachexia
HP:0005280Depressed nasal bridge
HP:0005425Recurrent sinopulmonary infections
HP:0006532Recurrent pneumonia
HP:0007018Attention deficit hyperactivity disorder
HP:0011362Abnormal hair quantity
HP:0012732Anorectal anomaly
Частый (30–79%)2
HP:0002664Neoplasm
HP:0100515Pollakisuria
Периодический (5–29%)16
HP:0000175Cleft palate
HP:0000492Abnormal eyelid morphology
HP:0000992Cutaneous photosensitivity
HP:0001324Muscle weakness
HP:0001480Freckling
HP:0002269Abnormality of neuronal migration
HP:0002488Acute leukemia
HP:0002665Lymphoma
HP:0002859Rhabdomyosarcoma
HP:0002878Respiratory failure
HP:0003011Abnormality of the musculature
HP:0003202Skeletal muscle atrophy
HP:0009733Glioma
HP:0012190T-cell lymphoma
HP:0012191B-cell lymphoma
HP:0100335Non-midline cleft of the upper lip
Эпидемиология8
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 1 | Worldwide | Value and class |
| Point prevalence | Unknown | — | Worldwide | Class only |
| Point prevalence | <1 / 1 000 000 | 0.7 | Russian Federation | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 3.1 | Poland | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 3.1 | Czech Republic | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 2.6 | Slovakia | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 2.3 | Belarus | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 1.3 | Ukraine | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)