JS-R
MCID: JBR007
MIFTS: 31

Joubert Syndrome with Renal Anomalies (JS-R)

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

Aliases & Classifications for Joubert Syndrome with Renal Anomalies

Summaries for Joubert Syndrome with Renal Anomalies

MalaCards based summary : Joubert Syndrome with Renal Anomalies, also known as joubert syndrome 4, is related to joubert syndrome 4 and meckel syndrome, type 3, and has symptoms including ataxia An important gene associated with Joubert Syndrome with Renal Anomalies is TMEM237 (Transmembrane Protein 237), and among its related pathways/superpathways is Organelle biogenesis and maintenance. Affiliated tissues include kidney, heart and eye, and related phenotypes are agenesis of corpus callosum and hydrocephalus

Related Diseases for Joubert Syndrome with Renal Anomalies

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

# Related Disease Score Top Affiliating Genes
1 joubert syndrome 4 12.5
2 meckel syndrome, type 3 9.8 NPHP1 RPGRIP1L
3 joubert syndrome 14 9.8 RPGRIP1L TMEM237
4 nephronophthisis 9.8 NPHP1 RPGRIP1L
5 meckel syndrome, type 5 9.8 RPGRIP1L TMEM237
6 nephronophthisis 11 9.8 NPHP1 RPGRIP1L
7 meckel syndrome, type 6 9.8 NPHP1 RPGRIP1L
8 bardet-biedl syndrome 9.7 NPHP1 RPGRIP1L
9 meckel syndrome, type 1 9.6 NPHP1 RPGRIP1L TMEM237
10 joubert syndrome 1 9.6 NPHP1 RPGRIP1L TMEM237

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



Diseases related to Joubert Syndrome with Renal Anomalies

Symptoms & Phenotypes for Joubert Syndrome with Renal Anomalies

Human phenotypes related to Joubert Syndrome with Renal Anomalies:

59 32 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 agenesis of corpus callosum 59 32 occasional (7.5%) Occasional (29-5%) HP:0001274
2 hydrocephalus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000238
3 ptosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000508
4 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
5 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
6 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
7 ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001251
8 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
9 gait disturbance 59 32 frequent (33%) Frequent (79-30%) HP:0001288
10 tremor 59 32 occasional (7.5%) Occasional (29-5%) HP:0001337
11 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
12 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
13 anteverted nares 59 32 occasional (7.5%) Occasional (29-5%) HP:0000463
14 renal insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0000083
15 nephropathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000112
16 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
17 feeding difficulties 59 32 frequent (33%) Frequent (79-30%) HP:0011968
18 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
19 biparietal narrowing 59 32 frequent (33%) Frequent (79-30%) HP:0004422
20 apnea 59 32 hallmark (90%) Very frequent (99-80%) HP:0002104
21 prominent nasal bridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0000426
22 aganglionic megacolon 59 32 occasional (7.5%) Occasional (29-5%) HP:0002251
23 low-set, posteriorly rotated ears 59 32 frequent (33%) Frequent (79-30%) HP:0000368
24 long face 59 32 frequent (33%) Frequent (79-30%) HP:0000276
25 hand polydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001161
26 highly arched eyebrow 59 32 occasional (7.5%) Occasional (29-5%) HP:0002553
27 iris coloboma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000612
28 polymicrogyria 59 32 occasional (7.5%) Occasional (29-5%) HP:0002126
29 encephalocele 59 32 occasional (7.5%) Occasional (29-5%) HP:0002084
30 oculomotor apraxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000657
31 abnormality of the hypothalamus-pituitary axis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000864
32 cerebellar vermis hypoplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001320
33 molar tooth sign on mri 59 32 hallmark (90%) Very frequent (99-80%) HP:0002419
34 malformation of the heart and great vessels 59 Occasional (29-5%)
35 oral cleft 59 Occasional (29-5%)
36 abnormality of cardiovascular system morphology 32 occasional (7.5%) HP:0030680
37 abnormal pattern of respiration 59 Very frequent (99-80%)

UMLS symptoms related to Joubert Syndrome with Renal Anomalies:


ataxia

Drugs & Therapeutics for Joubert Syndrome with Renal Anomalies

Search Clinical Trials , NIH Clinical Center for Joubert Syndrome with Renal Anomalies

Genetic Tests for Joubert Syndrome with Renal Anomalies

Anatomical Context for Joubert Syndrome with Renal Anomalies

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

41
Kidney, Heart, Eye, Pituitary, Hypothalamus

Publications for Joubert Syndrome with Renal Anomalies

Variations for Joubert Syndrome with Renal Anomalies

Expression for Joubert Syndrome with Renal Anomalies

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

Pathways for Joubert Syndrome with Renal Anomalies

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.35 NPHP1 RPGRIP1L

GO Terms for Joubert Syndrome with Renal Anomalies

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

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.43 NPHP1 RPGRIP1L TMEM237
2 cell-cell junction GO:0005911 9.37 NPHP1 RPGRIP1L
3 bicellular tight junction GO:0005923 9.32 NPHP1 RPGRIP1L
4 photoreceptor connecting cilium GO:0032391 9.16 NPHP1 RPGRIP1L
5 ciliary transition zone GO:0035869 8.96 RPGRIP1L TMEM237
6 cilium GO:0005929 8.8 NPHP1 RPGRIP1L TMEM237

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

# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 9.16 RPGRIP1L TMEM237
2 cell projection organization GO:0030030 8.96 NPHP1 TMEM237
3 ciliary basal body-plasma membrane docking GO:0097711 8.62 NPHP1 RPGRIP1L

Sources for Joubert Syndrome with Renal Anomalies

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11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
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32 HPO
33 ICD10
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62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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