CORS
MCID: JBR006
MIFTS: 42

Joubert Syndrome with Oculorenal Anomalies (CORS)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Joubert Syndrome with Oculorenal Anomalies

MalaCards integrated aliases for Joubert Syndrome with Oculorenal Anomalies:

Name: Joubert Syndrome with Oculorenal Anomalies 53
Arima Syndrome 53 59 73
Joubert Syndrome with Senior-Loken Syndrome 53 59
Joubert Syndrome with Oculorenal Defect 53 59
Cerebello-Oculo-Renal Syndrome 53 6
Cerebellooculorenal Syndrome 53 59
Dekaban-Arima Syndrome 53 59
Joubert Syndrome 5 53 73
Js Type B 53 59
Js-or 53 59
Cors 53 59
Joubert Syndrome with Bilateral Chorioretinal Coloboma 53
Chorioretinal Coloboma with Cerebellar Vermis Aplasia 53
Cerebro-Oculo-Hepato-Renal Syndrome 53
Familial Aplasia of the Vermis 73
Dekaban Arima Syndrome 53

Characteristics:

Orphanet epidemiological data:

59
joubert syndrome with oculorenal defect
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



Summaries for Joubert Syndrome with Oculorenal Anomalies

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2318Disease definitionJoubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with both renal and ocular disease.EpidemiologyPrevalence is unknown.Clinical descriptionPatients present retinal involvement (manifesting with either Leber congenital amaurosis (LCA, see this term), or progressive retinal dystrophy) and nephronophthisis (NPH, usually juvenile). Retinal involvement is present at birth (LCA) or may manifest later in life. Juvenile NPH usually becomes clinically symptomatic towards the late first decade or the early second decade of life.EtiologyAbout 50% of patients carry mutations in the CEP290 gene (12q21.33), transmitted in an autosomal recessive manner.Visit the Orphanet disease page for more resources.

MalaCards based summary : Joubert Syndrome with Oculorenal Anomalies, also known as arima syndrome, is related to nephronophthisis and joubert syndrome 1, and has symptoms including ataxia An important gene associated with Joubert Syndrome with Oculorenal Anomalies is TMEM231 (Transmembrane Protein 231), and among its related pathways/superpathways is Organelle biogenesis and maintenance. The drug Liver Extracts has been mentioned in the context of this disorder. Affiliated tissues include brain, heart and eye, and related phenotypes are hydrocephalus and ptosis

Related Diseases for Joubert Syndrome with Oculorenal Anomalies

Diseases related to Joubert Syndrome with Oculorenal Anomalies via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 214)
# Related Disease Score Top Affiliating Genes
1 nephronophthisis 29.1 CC2D2A CEP290 TMEM216 ZNF423
2 joubert syndrome 1 28.4 CC2D2A CEP290 TMEM138 TMEM216 TMEM231 TMEM237
3 meckel syndrome, type 1 28.2 CC2D2A CEP290 TMEM138 TMEM216 TMEM231 TMEM237
4 cor triatriatum 12.7
5 cor triatriatum sinister 12.6
6 arima syndrome 12.5
7 joubert syndrome 5 12.5
8 cor triatriatum dexter 12.4
9 acute cor pulmonale 12.3
10 cor biloculare 12.2
11 joubert syndrome 2 11.5
12 joubert syndrome 7 11.5
13 pulmonary alveolar microlithiasis 11.4
14 medulloblastoma 11.1
15 aortic aneurysm, familial thoracic 1 11.1
16 beryllium disease 11.1
17 pulmonary embolism 10.9
18 pulmonary hypertension 10.4
19 pulmonary disease, chronic obstructive 10.3
20 atrial fibrillation 10.3
21 atrial heart septal defect 10.3
22 lung disease 10.3
23 heart disease 10.2
24 male infertility 10.2
25 infertility 10.2
26 situs inversus 10.2
27 dextrocardia with situs inversus 10.2
28 cystic fibrosis 10.2
29 acute respiratory distress syndrome 10.2
30 respiratory failure 10.2
31 tetralogy of fallot 10.1
32 atrioventricular septal defect 10.1
33 myocardial infarction 10.1
34 pulmonary edema 10.1
35 bronchitis 10.1
36 retinoblastoma 10.1
37 bilateral retinoblastoma 10.1
38 asthma 10.0
39 patent foramen ovale 10.0
40 pulmonary tuberculosis 10.0
41 atrial septal defect coronary sinus 10.0
42 pulmonary emphysema 10.0
43 mitral valve insufficiency 10.0
44 ventricular septal defect 10.0
45 pneumonia 10.0
46 aortic coarctation 10.0
47 transposition of the great arteries 10.0
48 syncope 10.0
49 meckel syndrome, type 5 10.0 TMEM138 TMEM237
50 hypoplastic left heart syndrome 1 10.0

Graphical network of the top 20 diseases related to Joubert Syndrome with Oculorenal Anomalies:



Diseases related to Joubert Syndrome with Oculorenal Anomalies

Symptoms & Phenotypes for Joubert Syndrome with Oculorenal Anomalies

Human phenotypes related to Joubert Syndrome with Oculorenal Anomalies:

59 32 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hydrocephalus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000238
2 ptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000508
3 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
4 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
5 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
6 ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001251
7 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
8 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
9 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
10 anteverted nares 59 32 occasional (7.5%) Occasional (29-5%) HP:0000463
11 blindness 59 32 frequent (33%) Frequent (79-30%) HP:0000618
12 renal insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0000083
13 nephropathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000112
14 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
15 biparietal narrowing 59 32 frequent (33%) Frequent (79-30%) HP:0004422
16 apnea 59 32 hallmark (90%) Very frequent (99-80%) HP:0002104
17 abnormality of neuronal migration 59 32 occasional (7.5%) Occasional (29-5%) HP:0002269
18 prominent nasal bridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0000426
19 aganglionic megacolon 59 32 occasional (7.5%) Occasional (29-5%) HP:0002251
20 chorioretinal coloboma 59 32 frequent (33%) Frequent (79-30%) HP:0000567
21 low-set, posteriorly rotated ears 59 32 frequent (33%) Frequent (79-30%) HP:0000368
22 long face 59 32 frequent (33%) Frequent (79-30%) HP:0000276
23 hand polydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001161
24 foot polydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001829
25 highly arched eyebrow 59 32 occasional (7.5%) Occasional (29-5%) HP:0002553
26 iris coloboma 59 32 frequent (33%) Frequent (79-30%) HP:0000612
27 aplasia/hypoplasia of the corpus callosum 59 32 occasional (7.5%) Occasional (29-5%) HP:0007370
28 encephalocele 59 32 occasional (7.5%) Occasional (29-5%) HP:0002084
29 autistic behavior 59 32 frequent (33%) Frequent (79-30%) HP:0000729
30 abnormality of the hypothalamus-pituitary axis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000864
31 tachypnea 59 32 hallmark (90%) Very frequent (99-80%) HP:0002789
32 retinal dystrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000556
33 cerebellar vermis hypoplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001320
34 molar tooth sign on mri 59 32 hallmark (90%) Very frequent (99-80%) HP:0002419
35 behavioral abnormality 59 Frequent (79-30%)
36 visual impairment 59 Frequent (79-30%)
37 malformation of the heart and great vessels 59 Occasional (29-5%)
38 abnormality of cardiovascular system morphology 32 occasional (7.5%) HP:0030680

UMLS symptoms related to Joubert Syndrome with Oculorenal Anomalies:


ataxia

Drugs & Therapeutics for Joubert Syndrome with Oculorenal Anomalies

Drugs for Joubert Syndrome with Oculorenal Anomalies (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Liver Extracts

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Assessment of the Prevalence of Genes AHI1, NPHP1 and CEP290 in Joubert Syndrome Completed NCT00873678
2 Clinical and Molecular Investigations Into Ciliopathies Completed NCT00068224

Search NIH Clinical Center for Joubert Syndrome with Oculorenal Anomalies

Genetic Tests for Joubert Syndrome with Oculorenal Anomalies

Anatomical Context for Joubert Syndrome with Oculorenal Anomalies

MalaCards organs/tissues related to Joubert Syndrome with Oculorenal Anomalies:

41
Brain, Heart, Eye, Lung, Skin, Liver, Myeloid

Publications for Joubert Syndrome with Oculorenal Anomalies

Articles related to Joubert Syndrome with Oculorenal Anomalies:

# Title Authors Year
1
Arima syndrome caused by CEP290 specific variant and accompanied with pathological cilium; clinical comparison with Joubert syndrome and its related diseases. ( 29217415 )
2018
2
Nationwide survey of Arima syndrome: a note of doubt. ( 24054506 )
2014
3
Nationwide survey of Arima syndrome: revised diagnostic criteria from epidemiological analysis. ( 23845172 )
2014
4
Reply to the letter: &amp;quot;nationwide survey of Arima syndrome: revised diagnostic criteria from epidemiological analysis&amp;quot;. ( 24063856 )
2014
5
&amp;quot;Arima syndrome and bilateral retinoblastoma in interstitial deletion of 13q14.13-q32.3&amp;quot;: where is the molar tooth sign? ( 21041048 )
2011
6
Interstitial deletion of 13q14.13-q32.3 presenting with Arima syndrome and bilateral retinoblastoma. ( 20728296 )
2011
7
Renal disease in Arima syndrome is nephronophthisis as in other Joubert-related Cerebello-oculo-renal syndromes. ( 15384098 )
2004
8
Intraoperative QRS-interval changes caused by hyperkalaemia in an infant with Arima syndrome. ( 9742540 )
1998
9
Cerebro-oculo-hepato-renal syndrome (Arima' syndrome): a distinct clinicopathological entity. ( 3598133 )
1986

Variations for Joubert Syndrome with Oculorenal Anomalies

Expression for Joubert Syndrome with Oculorenal Anomalies

Search GEO for disease gene expression data for Joubert Syndrome with Oculorenal Anomalies.

Pathways for Joubert Syndrome with Oculorenal Anomalies

Pathways related to Joubert Syndrome with Oculorenal Anomalies according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.53 CC2D2A CEP290 TMEM216

GO Terms for Joubert Syndrome with Oculorenal Anomalies

Cellular components related to Joubert Syndrome with Oculorenal Anomalies according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.73 CC2D2A CEP290 TMEM138 TMEM216 TMEM231 TMEM237
2 cilium GO:0005929 9.63 CC2D2A CEP290 TMEM138 TMEM216 TMEM231 TMEM237
3 MKS complex GO:0036038 9.26 CC2D2A CEP290 TMEM216 TMEM231
4 ciliary transition zone GO:0035869 9.02 CC2D2A CEP290 TMEM216 TMEM231 TMEM237

Biological processes related to Joubert Syndrome with Oculorenal Anomalies according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 9.43 CC2D2A CEP290 TMEM138 TMEM216 TMEM231 TMEM237
2 camera-type eye development GO:0043010 9.37 CC2D2A TMEM231
3 ciliary basal body-plasma membrane docking GO:0097711 9.33 CC2D2A CEP290 TMEM216
4 smoothened signaling pathway GO:0007224 9.32 CC2D2A TMEM231
5 non-motile cilium assembly GO:1905515 9.26 CC2D2A TMEM216
6 cell projection organization GO:0030030 9.1 CC2D2A CEP290 TMEM138 TMEM216 TMEM231 TMEM237

Sources for Joubert Syndrome with Oculorenal Anomalies

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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