Duane retraction syndrome
ORPHA:233Malformation syndromeAutosomal dominant, Autosomal recessive, Not applicableInfancy, Neonatal
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| CHN1 | chimerin 1 | Disease-causing germline mutation(s) in | gene with protein product | 118423 |
| MAFB | MAF bZIP transcription factor B | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 608968 |
| SALL4 | spalt like transcription factor 4 | Disease-causing germline mutation(s) in | gene with protein product | 607343 |
Фенотипы (HPO)62
Очень частый (80–99%)6
HP:0000486Strabismus
HP:0000496Abnormality of eye movement
HP:0000657Oculomotor apraxia
HP:0009921Duane anomaly
HP:0012246Oculomotor nerve palsy
HP:0012745Short palpebral fissure
Частый (30–79%)8
HP:0000407Sensorineural hearing impairment
HP:0000463Anteverted nares
HP:0000490Deeply set eye
HP:0000542Impaired ocular adduction
HP:0000581Blepharophimosis
HP:0000634Impaired ocular abduction
HP:0002162Low posterior hairline
HP:0005640Abnormal vertebral segmentation and fusion
Периодический (5–29%)48
HP:0000086Ectopic kidney
HP:0000175Cleft palate
HP:0000232Everted lower lip vermilion
HP:0000252Microcephaly
HP:0000324Facial asymmetry
HP:0000347Micrognathia
HP:0000365Hearing impairment
HP:0000384Preauricular skin tag
HP:0000402Stenosis of the external auditory canal
HP:0000431Wide nasal bridge
HP:0000465Webbed neck
HP:0000470Short neck
HP:0000482Microcornea
HP:0000508Ptosis
HP:0000526Aniridia
HP:0000567Chorioretinal coloboma
HP:0000612Iris coloboma
HP:0000615Abnormal pupil morphology
HP:0000639Nystagmus
HP:0000643Blepharospasm
HP:0000646Amblyopia
HP:0001053Hypopigmented skin patches
HP:0001156Brachydactyly
HP:0001177Preaxial hand polydactyly
HP:0001199Triphalangeal thumb
HP:0001250Seizure
HP:0001263Global developmental delay
HP:0001357Plagiocephaly
HP:0001762Talipes equinovarus
HP:0002984Hypoplasia of the radius
HP:0003202Skeletal muscle atrophy
HP:0003298Spina bifida occulta
HP:0003312Abnormal form of the vertebral bodies
HP:0003974Absent radius
HP:0007400Irregular hyperpigmentation
HP:0007766Optic disc hypoplasia
HP:0007818Central heterochromia
HP:0007990Hypoplastic iris stroma
HP:0009601Aplasia/Hypoplasia of the thumb
HP:0011365Patchy hypopigmentation of hair
HP:0011386Narrow internal auditory canal
HP:0012385Camptodactyly
HP:0012732Anorectal anomaly
HP:0025186Marcus Gunn jaw winking synkinesis
HP:0030680Abnormal cardiovascular system morphology
HP:0031705Compensatory head posture
HP:0100274Gustatory lacrimation
HP:0000377Abnormal pinna morphology
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 10 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)