BRESEK syndrome
ORPHA:85284Malformation syndromeX-linked dominantChildhood
Ассоциированные гены1
Фенотипы (HPO)29
Очень частый (80–99%)13
HP:0000028Cryptorchidism
HP:0000089Renal hypoplasia
HP:0000238Hydrocephalus
HP:0000252Microcephaly
HP:0000369Low-set ears
HP:0000411Protruding ear
HP:0000609Optic nerve hypoplasia
HP:0001263Global developmental delay
HP:0001510Growth delay
HP:0001596Alopecia
HP:0005343Hypoplasia of the bladder
HP:0010864Intellectual disability, severe
HP:0012443Abnormality of brain morphology
Частый (30–79%)15
HP:0000076Vesicoureteral reflux
HP:0000110Renal dysplasia
HP:0000175Cleft palate
HP:0000365Hearing impairment
HP:0000444Convex nasal ridge
HP:0000568Microphthalmia
HP:0000612Iris coloboma
HP:0001162Postaxial hand polydactyly
HP:0001357Plagiocephaly
HP:0001511Intrauterine growth retardation
HP:0002251Aganglionic megacolon
HP:0002650Scoliosis
HP:0002937Hemivertebrae
HP:0003811Neonatal death
HP:0008734Decreased testicular size
Периодический (5–29%)1
HP:0008064Ichthyosis
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)