Joubert syndrome with hepatic defect
ORPHA:1454DiseaseAutosomal recessiveNeonatal
Ассоциированные гены4
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| TMEM67 | transmembrane protein 67 | Disease-causing germline mutation(s) in | gene with protein product | 609884 |
| RPGRIP1L | RPGRIP1 like | Disease-causing germline mutation(s) in | gene with protein product | 610937 |
| CC2D2A | coiled-coil and C2 domain containing 2A | Disease-causing germline mutation(s) in | gene with protein product | 612013 |
| INPP5E | inositol polyphosphate-5-phosphatase E | Disease-causing germline mutation(s) in | gene with protein product | 613037 |
Фенотипы (HPO)48
Очень частый (80–99%)12
HP:0000657Oculomotor apraxia
HP:0001251Ataxia
HP:0001252Hypotonia
HP:0001320Cerebellar vermis hypoplasia
HP:0002104Apnea
HP:0002240Hepatomegaly
HP:0002342Intellectual disability, moderate
HP:0002612Congenital hepatic fibrosis
HP:0002793Abnormal pattern of respiration
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0005248Intrahepatic biliary atresia
HP:0007360Aplasia/Hypoplasia of the cerebellum
Частый (30–79%)11
HP:0000112Nephropathy
HP:0000276Long face
HP:0000505Visual impairment
HP:0000567Chorioretinal coloboma
HP:0000588Optic disc coloboma
HP:0000612Iris coloboma
HP:0000639Nystagmus
HP:0001288Gait disturbance
HP:0001347Hyperreflexia
HP:0004422Biparietal narrowing
HP:0008872Feeding difficulties in infancy
Периодический (5–29%)25
HP:0000003Multicystic kidney dysplasia
HP:0000023Inguinal hernia
HP:0000083Renal insufficiency
HP:0000202Orofacial cleft
HP:0000238Hydrocephalus
HP:0000256Macrocephaly
HP:0000369Low-set ears
HP:0000426Prominent nasal bridge
HP:0000463Anteverted nares
HP:0000486Strabismus
HP:0000508Ptosis
HP:0000864Abnormality of the hypothalamus-pituitary axis
HP:0001162Postaxial hand polydactyly
HP:0001250Seizure
HP:0001337Tremor
HP:0001394Cirrhosis
HP:0001409Portal hypertension
HP:0001744Splenomegaly
HP:0002085Occipital encephalocele
HP:0002269Abnormality of neuronal migration
HP:0002553Highly arched eyebrow
HP:0002650Scoliosis
HP:0002896Neoplasm of the liver
HP:0007370Aplasia/Hypoplasia of the corpus callosum
HP:0100626Chronic hepatic failure
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 8 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)