BOR syndrome
ORPHA:107Malformation syndromeAutosomal dominantAntenatal, Childhood, Infancy, Neonatal
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| SIX1 | SIX homeobox 1 | Disease-causing germline mutation(s) in | gene with protein product | 601205 |
| EYA1 | EYA transcriptional coactivator and phosphatase 1 | Disease-causing germline mutation(s) in | gene with protein product | 601653 |
| SIX5 | SIX homeobox 5 | Disease-causing germline mutation(s) in | gene with protein product | 600963 |
Фенотипы (HPO)38
Очень частый (80–99%)4
HP:0000359Abnormality of the inner ear
HP:0000365Hearing impairment
HP:0000370Abnormality of the middle ear
HP:0004467Preauricular pit
Частый (30–79%)16
HP:0000384Preauricular skin tag
HP:0000394Lop ear
HP:0000402Stenosis of the external auditory canal
HP:0000405Conductive hearing impairment
HP:0000410Mixed hearing impairment
HP:0000413Atresia of the external auditory canal
HP:0004452Abnormality of the middle ear ossicles
HP:0008586Hypoplasia of the cochlea
HP:0008678Renal hypoplasia/aplasia
HP:0009794Branchial anomaly
HP:0009796Branchial cyst
HP:0011387Enlarged vestibular aqueduct
HP:0011388Enlarged cochlear aqueduct
HP:0011395Aplasia/Hypoplasia of the cochlea
HP:0100272Branchial sinus
HP:0000377Abnormal pinna morphology
Периодический (5–29%)18
HP:0000003Multicystic kidney dysplasia
HP:0000074Ureteropelvic junction obstruction
HP:0000076Vesicoureteral reflux
HP:0000083Renal insufficiency
HP:0000126Hydronephrosis
HP:0000175Cleft palate
HP:0000278Retrognathia
HP:0000324Facial asymmetry
HP:0000356Abnormality of the outer ear
HP:0000407Sensorineural hearing impairment
HP:0007925Lacrimal duct aplasia
HP:0008551Microtia
HP:0009798Euthyroid goiter
HP:0010628Facial palsy
HP:0011481Abnormal lacrimal duct morphology
HP:0040106Morphological abnormality of the lateral semicircular canal
HP:0100274Gustatory lacrimation
HP:0100581Dilatation of renal calices
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 2.5 | Canada | Value and class |
| Point prevalence | 1-9 / 100 000 | 2.5 | Worldwide | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)