Treacher-Collins syndrome
ORPHA:861Malformation syndromeAutosomal dominant, Autosomal recessiveAntenatal, Neonatal
Ассоциированные гены4
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| POLR1B | RNA polymerase I subunit B | Disease-causing germline mutation(s) in | gene with protein product | 602000 |
| TCOF1 | treacle ribosome biogenesis factor 1 | Disease-causing germline mutation(s) in | gene with protein product | 606847 |
| POLR1D | RNA polymerase I and III subunit D | Disease-causing germline mutation(s) in | gene with protein product | 613715 |
| POLR1C | RNA polymerase I and III subunit C | Disease-causing germline mutation(s) in | gene with protein product | 610060 |
Фенотипы (HPO)68
Очень частый (80–99%)12
HP:0000272Malar flattening
HP:0000278Retrognathia
HP:0000327Hypoplasia of the maxilla
HP:0000347Micrognathia
HP:0000494Downslanted palpebral fissures
HP:0001999Abnormal facial shape
HP:0002652Skeletal dysplasia
HP:0004348Abnormality of bone mineral density
HP:0010669Hypoplasia of the zygomatic bone
HP:0010807Open bite
HP:0011219Short face
HP:0011800Midface retrusion
Частый (30–79%)19
HP:0000164Abnormality of the dentition
HP:0000294Low anterior hairline
HP:0000356Abnormality of the outer ear
HP:0000358Posteriorly rotated ears
HP:0000370Abnormality of the middle ear
HP:0000405Conductive hearing impairment
HP:0000413Atresia of the external auditory canal
HP:0000431Wide nasal bridge
HP:0000486Strabismus
HP:0000505Visual impairment
HP:0000561Absent eyelashes
HP:0000612Iris coloboma
HP:0000625Eyelid coloboma
HP:0000689Dental malocclusion
HP:0000750Delayed speech and language development
HP:0002007Frontal bossing
HP:0008551Microtia
HP:0009804Tooth agenesis
HP:0011386Narrow internal auditory canal
Периодический (5–29%)37
HP:0002381Aphasia
HP:0000028Cryptorchidism
HP:0000046Small scrotum
HP:0000143Rectovaginal fistula
HP:0000154Wide mouth
HP:0000160Narrow mouth
HP:0000162Glossoptosis
HP:0000175Cleft palate
HP:0000204Cleft upper lip
HP:0000218High palate
HP:0000248Brachycephaly
HP:0000316Hypertelorism
HP:0000384Preauricular skin tag
HP:0000453Choanal atresia
HP:0000518Cataract
HP:0000568Microphthalmia
HP:0000643Blepharospasm
HP:0000682Abnormality of dental enamel
HP:0000778Hypoplasia of the thymus
HP:0000834Abnormality of the adrenal glands
HP:0000925Abnormality of the vertebral column
HP:0001263Global developmental delay
HP:0001508Failure to thrive
HP:0001643Patent ductus arteriosus
HP:0002006Facial cleft
HP:0002084Encephalocele
HP:0002093Respiratory insufficiency
HP:0002575Tracheoesophageal fistula
HP:0005701Multiple enchondromatosis
HP:0005990Thyroid hypoplasia
HP:0006482Abnormal dental morphology
HP:0008736Hypoplasia of penis
HP:0008872Feeding difficulties in infancy
HP:0009554Preauricular hair displacement
HP:0009795Branchial fistula
HP:0011481Abnormal lacrimal duct morphology
HP:0030680Abnormal cardiovascular system morphology
Эпидемиология6
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.63 | France | Value and class |
| Point prevalence | 1-9 / 1 000 000 | — | France | Class only |
| Prevalence at birth | 1-9 / 100 000 | 6.9 | Japan | Value and class |
| Point prevalence | 1-9 / 100 000 | — | Japan | Class only |
| Prevalence at birth | 1-9 / 100 000 | 2 | Europe | Value and class |
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)