Joubert syndrome with oculorenal defect
General Information (adopted from Orphanet):
Synonyms, Signs: |
JS-OR CORS JS type B Arima syndrome Joubert syndrome with Senior-Loken syndrome Dekaban-Arima syndrome Cerebello-oculo-renal syndrome |
Number of Symptoms | 62 |
OrphanetNr: | 2318 |
OMIM Id: |
243910
608091 610188 612285 614424 614465 614844 |
ICD-10: |
H35.5 Q04.3 Q61.5 |
UMLs: |
|
MeSH: |
|
MedDRA: |
|
Snomed: |
|
Prevalence, inheritance and age of onset:
Prevalence: | No data available. |
Inheritance: |
Autosomal recessive [Orphanet] |
Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
Parent Diseases: |
Familial cystic renal disease
-Rare genetic disease -Rare renal disease Genetic syndrome with a cerebellar malformation as major feature -Rare genetic disease Joubert syndrome and related disorders -Rare eye disease -Rare genetic disease -Rare neurologic disease Oculomotor apraxia or related oculomotor disease -Rare eye disease -Rare genetic disease Syndrome with a cerebellar malformation as major feature -Rare developmental defect during embryogenesis -Rare neurologic disease Syndromic retinitis pigmentosa -Rare eye disease -Rare genetic disease |
Symptom Information:
|
(HPO:0000108) | Renal corticomedullary cysts | 21 / 7739 | ||||
|
(HPO:0000090) | Nephronophthisis | 42 / 7739 | ||||
|
(HPO:0000083) | Renal insufficiency | Occasional [Orphanet] | 232 / 7739 | |||
|
(HPO:0005576) | Tubulointerstitial fibrosis | 32 / 7739 | ||||
|
(HPO:0000113) | Polycystic kidney dysplasia | 75 / 7739 | ||||
|
(HPO:0003774) | Stage 5 chronic kidney disease | 78 / 7739 | ||||
|
(HPO:0000112) | Nephropathy | Very frequent [Orphanet] | 92 / 7739 | |||
|
(HPO:0000092) | Tubular atrophy | 28 / 7739 | ||||
|
(HPO:0000463) | Anteverted nares | Occasional [Orphanet] | 305 / 7739 | |||
|
(HPO:0000341) | Narrow forehead | Frequent [Orphanet] | 96 / 7739 | |||
|
(HPO:0002084) | Encephalocele | Occasional [Orphanet] | 70 / 7739 | |||
|
(HPO:0000426) | Prominent nasal bridge | Occasional [Orphanet] | 121 / 7739 | |||
|
(HPO:0000276) | Long face | Frequent [Orphanet] | 109 / 7739 | |||
|
(HPO:0002553) | Highly arched eyebrow | Occasional [Orphanet] | 92 / 7739 | |||
|
(HPO:0000154) | Wide mouth | 137 / 7739 | ||||
|
(HPO:0000479) | Abnormality of the retina | Frequent [Orphanet] | 74 / 7739 | |||
|
(HPO:0000567) | Chorioretinal coloboma | 26 / 7739 | ||||
|
(HPO:0000612) | Iris coloboma | Frequent [Orphanet] | 116 / 7739 | |||
|
(HPO:0000572) | Visual loss | Frequent [Orphanet] | 272 / 7739 | |||
|
(HPO:0000486) | Strabismus | Occasional [Orphanet] | 576 / 7739 | |||
|
(HPO:0000550) | Undetectable electroretinogram | 25 / 7739 | ||||
|
(HPO:0000556) | Retinal dystrophy | 65 / 7739 | ||||
|
(HPO:0000639) | Nystagmus | Frequent [Orphanet] | 555 / 7739 | |||
|
(HPO:0000508) | Ptosis | Frequent [Orphanet] | 459 / 7739 | |||
|
(HPO:0000618) | Blindness | 124 / 7739 | ||||
|
(HPO:0000357) | Abnormal location of ears | Frequent [Orphanet] | 328 / 7739 | |||
|
(HPO:0001251) | Ataxia | 413 / 7739 | ||||
|
(HPO:0002066) | Gait ataxia | Very frequent [Orphanet] | 327 / 7739 | |||
|
(HPO:0001250) | Seizures | Occasional [Orphanet] | 1245 / 7739 | |||
|
(HPO:0010864) | Intellectual disability, severe | 120 / 7739 | ||||
|
(HPO:0002251) | Aganglionic megacolon | Occasional [Orphanet] | 78 / 7739 | |||
|
(HPO:0001263) | Global developmental delay | 853 / 7739 | ||||
|
(HPO:0006887) | Intellectual disability, progressive | 68 / 7739 | ||||
|
(HPO:0000864) | Abnormality of the hypothalamus-pituitary axis | Occasional [Orphanet] | 23 / 7739 | |||
|
(HPO:0002436) | Occipital meningocele | 4 / 7739 | ||||
|
(HPO:0001829) | Foot polydactyly | Occasional [Orphanet] | 41 / 7739 | |||
|
(HPO:0001161) | Hand polydactyly | Occasional [Orphanet] | 71 / 7739 | |||
|
(HPO:0001830) | Postaxial foot polydactyly | 37 / 7739 | ||||
|
(HPO:0002650) | Scoliosis | Occasional [Orphanet] | 705 / 7739 | |||
|
(HPO:0001162) | Postaxial hand polydactyly | 119 / 7739 | ||||
|
(HPO:0002240) | Hepatomegaly | 467 / 7739 | ||||
|
(HPO:0001395) | Hepatic fibrosis | 67 / 7739 | ||||
|
(HPO:0001397) | Hepatic steatosis | 75 / 7739 | ||||
|
(HPO:0030680) | Abnormality of cardiovascular system morphology | Occasional [Orphanet] | 355 / 7739 | |||
|
(HPO:0002094) | Dyspnea | 132 / 7739 | ||||
|
(HPO:0002789) | Tachypnea | 48 / 7739 | ||||
|
(HPO:0002104) | Apnea | Very frequent [Orphanet] | 106 / 7739 | |||
|
(HPO:0002793) | Abnormal pattern of respiration | Very frequent [Orphanet] | 26 / 7739 | |||
|
(HPO:0001252) | Muscular hypotonia | Very frequent [Orphanet] | 990 / 7739 | |||
|
(HPO:0002282) | Heterotopia | 21 / 7739 | ||||
|
(HPO:0006817) | Aplasia/Hypoplasia of the cerebellar vermis | 15 / 7739 | ||||
|
(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
|
(HPO:0002365) | Hypoplasia of the brainstem | 41 / 7739 | ||||
|
(HPO:0007370) | Aplasia/Hypoplasia of the corpus callosum | Occasional [Orphanet] | 180 / 7739 | |||
|
(HPO:0002335) | Agenesis of cerebellar vermis | 25 / 7739 | ||||
|
(HPO:0000238) | Hydrocephalus | Occasional [Orphanet] | 278 / 7739 | |||
|
(HPO:0002508) | Brainstem dysplasia | 5 / 7739 | ||||
|
(HPO:0002198) | Dilated fourth ventricle | 12 / 7739 | ||||
|
(HPO:0002419) | Molar tooth sign on MRI | 27 / 7739 | ||||
|
(HPO:0002334) | Abnormality of the cerebellar vermis | Very frequent [Orphanet] | 137 / 7739 | |||
|
(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 | |||
|
(HPO:0002536) | Abnormal cortical gyration | Occasional [Orphanet] | 72 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
---|