Joubert syndrome with renal defect
ORPHA:220497Malformation syndromeAutosomal recessiveInfancy, Neonatal
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| NPHP1 | nephrocystin 1 | Disease-causing germline mutation(s) in | gene with protein product | 607100 |
| RPGRIP1L | RPGRIP1 like | Disease-causing germline mutation(s) in | gene with protein product | 610937 |
| TMEM237 | transmembrane protein 237 | Disease-causing germline mutation(s) in | gene with protein product | 614423 |
Фенотипы (HPO)36
Очень частый (80–99%)10
HP:0000112Nephropathy
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%)6
HP:0000276Long face
HP:0000358Posteriorly rotated ears
HP:0000639Nystagmus
HP:0001288Gait disturbance
HP:0004422Biparietal narrowing
HP:0011968Feeding difficulties
Периодический (5–29%)20
HP:0000083Renal insufficiency
HP:0000175Cleft palate
HP:0000202Orofacial cleft
HP:0000238Hydrocephalus
HP:0000426Prominent nasal bridge
HP:0000463Anteverted nares
HP:0000486Strabismus
HP:0000508Ptosis
HP:0000612Iris coloboma
HP:0000864Abnormality of the hypothalamus-pituitary axis
HP:0001161Hand polydactyly
HP:0001250Seizure
HP:0001274Agenesis of corpus callosum
HP:0001337Tremor
HP:0002084Encephalocele
HP:0002126Polymicrogyria
HP:0002251Aganglionic megacolon
HP:0002553Highly arched eyebrow
HP:0002650Scoliosis
HP:0030680Abnormal cardiovascular system morphology
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)