MCID: JBR006
MIFTS: 43

Joubert Syndrome with Oculorenal Anomalies

Categories: Rare diseases, Neuronal diseases, Eye diseases, Nephrological diseases, Fetal diseases, Liver diseases, Genetic 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 TMEM237 (Transmembrane Protein 237), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. The drug Liver Extracts has been mentioned in the context of this disorder. Affiliated tissues include hypothalamus, pituitary and liver, and related phenotypes are renal insufficiency and nephropathy

Related Diseases for Joubert Syndrome with Oculorenal Anomalies

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 renal insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0000083
2 nephropathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000112
3 hydrocephalus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000238
4 long face 59 32 frequent (33%) Frequent (79-30%) HP:0000276
5 low-set, posteriorly rotated ears 59 32 frequent (33%) Frequent (79-30%) HP:0000368
6 prominent nasal bridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0000426
7 anteverted nares 59 32 occasional (7.5%) Occasional (29-5%) HP:0000463
8 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
9 ptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000508
10 retinal dystrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000556
11 chorioretinal coloboma 59 32 frequent (33%) Frequent (79-30%) HP:0000567
12 iris coloboma 59 32 frequent (33%) Frequent (79-30%) HP:0000612
13 blindness 59 32 frequent (33%) Frequent (79-30%) HP:0000618
14 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
15 autistic behavior 59 32 frequent (33%) Frequent (79-30%) HP:0000729
16 abnormality of the hypothalamus-pituitary axis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000864
17 hand polydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001161
18 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
19 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
20 ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001251
21 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
22 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
23 cerebellar vermis hypoplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001320
24 foot polydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001829
25 encephalocele 59 32 occasional (7.5%) Occasional (29-5%) HP:0002084
26 apnea 59 32 hallmark (90%) Very frequent (99-80%) HP:0002104
27 aganglionic megacolon 59 32 occasional (7.5%) Occasional (29-5%) HP:0002251
28 abnormality of neuronal migration 59 32 occasional (7.5%) Occasional (29-5%) HP:0002269
29 molar tooth sign on mri 59 32 hallmark (90%) Very frequent (99-80%) HP:0002419
30 highly arched eyebrow 59 32 occasional (7.5%) Occasional (29-5%) HP:0002553
31 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
32 tachypnea 59 32 hallmark (90%) Very frequent (99-80%) HP:0002789
33 biparietal narrowing 59 32 frequent (33%) Frequent (79-30%) HP:0004422
34 aplasia/hypoplasia of the corpus callosum 59 32 occasional (7.5%) Occasional (29-5%) HP:0007370
35 visual impairment 59 Frequent (79-30%)
36 behavioral abnormality 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 Active, not recruiting 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
Hypothalamus, Pituitary, Liver, Heart, Brain, Eye

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 )
2017
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

Variations for Joubert Syndrome with Oculorenal Anomalies

ClinVar genetic disease variations for Joubert Syndrome with Oculorenal Anomalies:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NPHP4 NM_015102.4(NPHP4): c.2044C> T (p.Arg682Ter) single nucleotide variant Pathogenic/Likely pathogenic rs137852920 GRCh37 Chromosome 1, 5964776: 5964776
2 NPHP4 NM_015102.4(NPHP4): c.2044C> T (p.Arg682Ter) single nucleotide variant Pathogenic/Likely pathogenic rs137852920 GRCh38 Chromosome 1, 5904716: 5904716

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

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 9.8 CC2D2A CEP290 NPHP4 TMEM138 TMEM216 TMEM231
2 cytoskeleton GO:0005856 9.67 CC2D2A CEP290 NPHP4 TMEM216
3 cilium GO:0005929 9.5 CC2D2A CEP290 NPHP4 TMEM138 TMEM216 TMEM231
4 MKS complex GO:0036038 9.46 CC2D2A CEP290 TMEM216 TMEM231
5 ciliary basal body GO:0036064 9.4 CEP290 NPHP4
6 photoreceptor connecting cilium GO:0032391 9.32 CEP290 NPHP4
7 ciliary transition zone GO:0035869 9.1 CC2D2A CEP290 NPHP4 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 ciliary basal body-plasma membrane docking GO:0097711 9.46 CC2D2A CEP290 NPHP4 TMEM216
2 cilium assembly GO:0060271 9.43 CC2D2A CEP290 TMEM138 TMEM216 TMEM231 TMEM237
3 smoothened signaling pathway GO:0007224 9.32 CC2D2A TMEM231
4 non-motile cilium assembly GO:1905515 9.26 CC2D2A TMEM216
5 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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