MCID: JBR007
MIFTS: 29

Joubert Syndrome with Renal Anomalies

Categories: Rare diseases, Neuronal diseases, Nephrological diseases, Fetal 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 nephronophthisis, 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 pituitary, hypothalamus and kidney, and related phenotypes are renal insufficiency and nephropathy

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 12.3
2 nephronophthisis 9.2 NPHP1 RPGRIP1L
3 bardet-biedl syndrome 9.0 NPHP1 RPGRIP1L
4 meckel syndrome, type 1 8.7 NPHP1 RPGRIP1L TMEM237
5 joubert syndrome 1 8.6 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 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 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
4 hydrocephalus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000238
5 long face 59 32 frequent (33%) Frequent (79-30%) HP:0000276
6 low-set, posteriorly rotated ears 59 32 frequent (33%) Frequent (79-30%) HP:0000368
7 prominent nasal bridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0000426
8 anteverted nares 59 32 occasional (7.5%) Occasional (29-5%) HP:0000463
9 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
10 ptosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000508
11 iris coloboma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000612
12 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
13 oculomotor apraxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000657
14 abnormality of the hypothalamus-pituitary axis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000864
15 hand polydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001161
16 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
17 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
18 ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001251
19 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
20 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
21 agenesis of corpus callosum 59 32 occasional (7.5%) Occasional (29-5%) HP:0001274
22 gait disturbance 59 32 frequent (33%) Frequent (79-30%) HP:0001288
23 cerebellar vermis hypoplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001320
24 tremor 59 32 occasional (7.5%) Occasional (29-5%) HP:0001337
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 polymicrogyria 59 32 occasional (7.5%) Occasional (29-5%) HP:0002126
28 aganglionic megacolon 59 32 occasional (7.5%) Occasional (29-5%) HP:0002251
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 biparietal narrowing 59 32 frequent (33%) Frequent (79-30%) HP:0004422
33 feeding difficulties 59 32 frequent (33%) Frequent (79-30%) HP:0011968
34 oral cleft 59 Occasional (29-5%)
35 malformation of the heart and great vessels 59 Occasional (29-5%)
36 abnormal pattern of respiration 59 Very frequent (99-80%)
37 abnormality of cardiovascular system morphology 32 occasional (7.5%) HP:0030680

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
Pituitary, Hypothalamus, Kidney, Heart

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

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
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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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