Joubert syndrome with oculorenal defect
ORPHA:2318Malformation syndromeAutosomal recessiveInfancy, Neonatal
Ассоциированные гены7
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| CEP290 | centrosomal protein 290 | Disease-causing germline mutation(s) in | gene with protein product | 610142 |
| CC2D2A | coiled-coil and C2 domain containing 2A | Disease-causing germline mutation(s) in | gene with protein product | 612013 |
| TMEM216 | transmembrane protein 216 | Disease-causing germline mutation(s) in | gene with protein product | 613277 |
| TMEM237 | transmembrane protein 237 | Disease-causing germline mutation(s) in | gene with protein product | 614423 |
| TMEM138 | transmembrane protein 138 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 614459 |
| ZNF423 | zinc finger protein 423 | Disease-causing germline mutation(s) in | gene with protein product | 604557 |
| TMEM231 | transmembrane protein 231 | Disease-causing germline mutation(s) in | gene with protein product | 614949 |
Фенотипы (HPO)37
Очень частый (80–99%)10
HP:0000112Nephropathy
HP:0000556Retinal dystrophy
HP:0001249Intellectual disability
HP:0001251Ataxia
HP:0001252Hypotonia
HP:0001263Global developmental delay
HP:0001320Cerebellar vermis hypoplasia
HP:0002104Apnea
HP:0002419Molar tooth sign on MRI
HP:0002789Tachypnea
Частый (30–79%)11
HP:0000276Long face
HP:0000505Visual impairment
HP:0000508Ptosis
HP:0000567Chorioretinal coloboma
HP:0000612Iris coloboma
HP:0000618Blindness
HP:0000639Nystagmus
HP:0000708Atypical behavior
HP:0000729Autistic behavior
HP:0004422Biparietal narrowing
HP:0000358Posteriorly rotated ears
Периодический (5–29%)16
HP:0000083Renal insufficiency
HP:0000238Hydrocephalus
HP:0000426Prominent nasal bridge
HP:0000463Anteverted nares
HP:0000486Strabismus
HP:0000864Abnormality of the hypothalamus-pituitary axis
HP:0001161Hand polydactyly
HP:0001250Seizure
HP:0001829Foot polydactyly
HP:0002084Encephalocele
HP:0002251Aganglionic megacolon
HP:0002269Abnormality of neuronal migration
HP:0002553Highly arched eyebrow
HP:0002650Scoliosis
HP:0007370Aplasia/Hypoplasia of the corpus callosum
HP:0030680Abnormal cardiovascular system morphology
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
| Cases/families | — | 17 | Worldwide | Case(s) |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)