Joubert syndrome with ocular defect
ORPHA:220493Malformation syndromeAutosomal recessiveInfancy, Neonatal
Ассоциированные гены5
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| AHI1 | Abelson helper integration site 1 | Disease-causing germline mutation(s) in | gene with protein product | 608894 |
| MKS1 | MKS transition zone complex subunit 1 | Disease-causing germline mutation(s) in | gene with protein product | 609883 |
| INPP5E | inositol polyphosphate-5-phosphatase E | Disease-causing germline mutation(s) in | gene with protein product | 613037 |
| CEP41 | centrosomal protein 41 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 610523 |
| CEP120 | centrosomal protein 120 | Disease-causing germline mutation(s) in | gene with protein product | 613446 |
Фенотипы (HPO)40
Очень частый (80–99%)10
HP:0000556Retinal dystrophy
HP:0000657Oculomotor apraxia
HP:0001249Intellectual disability
HP:0001251Ataxia
HP:0001252Hypotonia
HP:0001263Global developmental delay
HP:0001320Cerebellar vermis hypoplasia
HP:0002104Apnea
HP:0002419Molar tooth sign on MRI
HP:0002793Abnormal pattern of respiration
Частый (30–79%)5
HP:0000276Long face
HP:0000639Nystagmus
HP:0001288Gait disturbance
HP:0004422Biparietal narrowing
HP:0011968Feeding difficulties
Периодический (5–29%)25
HP:0000486Strabismus
HP:0000508Ptosis
HP:0000572Visual loss
HP:0000612Iris coloboma
HP:0000864Abnormality of the hypothalamus-pituitary axis
HP:0001161Hand polydactyly
HP:0001250Seizure
HP:0001274Agenesis of corpus callosum
HP:0001337Tremor
HP:0001651Dextrocardia
HP:0001829Foot polydactyly
HP:0002084Encephalocele
HP:0002126Polymicrogyria
HP:0002251Aganglionic megacolon
HP:0002553Highly arched eyebrow
HP:0002650Scoliosis
HP:0003468Abnormal vertebral morphology
HP:0030680Abnormal cardiovascular system morphology
HP:0000175Cleft palate
HP:0000202Orofacial cleft
HP:0000238Hydrocephalus
HP:0000358Posteriorly rotated ears
HP:0000426Prominent nasal bridge
HP:0000463Anteverted nares
HP:0000480Retinal coloboma
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)