Acro-renal-ocular syndrome
ORPHA:959Malformation syndromeAutosomal dominantAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)44
Очень частый (80–99%)8
HP:0000085Horseshoe kidney
HP:0001172Abnormal thumb morphology
HP:0002818Abnormal morphology of the radius
HP:0004712Renal malrotation
HP:0004736Crossed fused renal ectopia
HP:0006501Aplasia/Hypoplasia of the radius
HP:0009650Short distal phalanx of the thumb
HP:0009778Short thumb
Частый (30–79%)16
HP:0000015Bladder diverticulum
HP:0000405Conductive hearing impairment
HP:0000407Sensorineural hearing impairment
HP:0000486Strabismus
HP:0000505Visual impairment
HP:0000588Optic disc coloboma
HP:0001177Preaxial hand polydactyly
HP:0001199Triphalangeal thumb
HP:0001852Sandal gap
HP:0003022Hypoplasia of the ulna
HP:0004059Radial club hand
HP:0007766Optic disc hypoplasia
HP:0008678Renal hypoplasia/aplasia
HP:0010059Broad hallux phalanx
HP:0010109Short hallux
HP:0012745Short palpebral fissure
Периодический (5–29%)20
HP:0000076Vesicoureteral reflux
HP:0000286Epicanthus
HP:0000316Hypertelorism
HP:0000482Microcornea
HP:0000508Ptosis
HP:0000518Cataract
HP:0000567Chorioretinal coloboma
HP:0000568Microphthalmia
HP:0000589Coloboma
HP:0000612Iris coloboma
HP:0000639Nystagmus
HP:0001636Tetralogy of Fallot
HP:0001770Toe syndactyly
HP:0001883Talipes
HP:0002251Aganglionic megacolon
HP:0002948Vertebral fusion
HP:0003422Vertebral segmentation defect
HP:0005792Short humerus
HP:0006101Finger syndactyly
HP:0008897Postnatal growth retardation
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 20 | Worldwide | Family(ies) |
| 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)