MCID: JBR005
MIFTS: 34

Joubert Syndrome with Ocular Anomalies

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

Aliases & Classifications for Joubert Syndrome with Ocular Anomalies

MalaCards integrated aliases for Joubert Syndrome with Ocular Anomalies:

Name: Joubert Syndrome with Ocular Anomalies 54
Joubert Syndrome 3 54 74
Joubert Syndrome with Ocular Defect 60
Joubert Syndrome with Retinopathy 60
Jbts3 54
Js-O 60

Characteristics:

Orphanet epidemiological data:

60
joubert syndrome with ocular defect
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:



Summaries for Joubert Syndrome with Ocular Anomalies

MalaCards based summary : Joubert Syndrome with Ocular Anomalies, also known as joubert syndrome 3, is related to joubert syndrome 3 and joubert syndrome 6, and has symptoms including ataxia An important gene associated with Joubert Syndrome with Ocular Anomalies is CEP120 (Centrosomal Protein 120), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. Affiliated tissues include pituitary, hypothalamus and brain, and related phenotypes are intellectual disability and ataxia

Related Diseases for Joubert Syndrome with Ocular Anomalies

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

# Related Disease Score Top Affiliating Genes
1 joubert syndrome 3 12.5
2 joubert syndrome 6 9.8 AHI1 MKS1
3 meckel syndrome, type 6 9.8 AHI1 MKS1
4 bardet-biedl syndrome 13 9.7 AHI1 MKS1
5 hydrolethalus syndrome 1 9.7 AHI1 MKS1
6 senior-loken syndrome 1 9.7 AHI1 MKS1
7 meckel syndrome, type 1 9.6 AHI1 MKS1
8 fundus dystrophy 9.6 AHI1 INPP5E
9 nephronophthisis 9.4 AHI1 INPP5E MKS1
10 joubert syndrome 1 8.9 AHI1 CEP120 CEP41 INPP5E MKS1

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



Diseases related to Joubert Syndrome with Ocular Anomalies

Symptoms & Phenotypes for Joubert Syndrome with Ocular Anomalies

Human phenotypes related to Joubert Syndrome with Ocular Anomalies:

60 33 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
2 ataxia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001251
3 muscular hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001252
4 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
5 apnea 60 33 hallmark (90%) Very frequent (99-80%) HP:0002104
6 oculomotor apraxia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000657
7 retinal dystrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0000556
8 cerebellar vermis hypoplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001320
9 molar tooth sign on mri 60 33 hallmark (90%) Very frequent (99-80%) HP:0002419
10 nystagmus 60 33 frequent (33%) Frequent (79-30%) HP:0000639
11 gait disturbance 60 33 frequent (33%) Frequent (79-30%) HP:0001288
12 feeding difficulties 60 33 frequent (33%) Frequent (79-30%) HP:0011968
13 biparietal narrowing 60 33 frequent (33%) Frequent (79-30%) HP:0004422
14 long face 60 33 frequent (33%) Frequent (79-30%) HP:0000276
15 agenesis of corpus callosum 60 33 occasional (7.5%) Occasional (29-5%) HP:0001274
16 hydrocephalus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000238
17 ptosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000508
18 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
19 tremor 60 33 occasional (7.5%) Occasional (29-5%) HP:0001337
20 scoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002650
21 abnormal vertebral morphology 60 33 occasional (7.5%) Occasional (29-5%) HP:0003468
22 anteverted nares 60 33 occasional (7.5%) Occasional (29-5%) HP:0000463
23 cleft palate 60 33 occasional (7.5%) Occasional (29-5%) HP:0000175
24 strabismus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000486
25 prominent nasal bridge 60 33 occasional (7.5%) Occasional (29-5%) HP:0000426
26 aganglionic megacolon 60 33 occasional (7.5%) Occasional (29-5%) HP:0002251
27 visual loss 60 33 occasional (7.5%) Occasional (29-5%) HP:0000572
28 low-set, posteriorly rotated ears 60 33 occasional (7.5%) Occasional (29-5%) HP:0000368
29 hand polydactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001161
30 foot polydactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001829
31 highly arched eyebrow 60 33 occasional (7.5%) Occasional (29-5%) HP:0002553
32 iris coloboma 60 33 occasional (7.5%) Occasional (29-5%) HP:0000612
33 polymicrogyria 60 33 occasional (7.5%) Occasional (29-5%) HP:0002126
34 encephalocele 60 33 occasional (7.5%) Occasional (29-5%) HP:0002084
35 dextrocardia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001651
36 abnormality of the hypothalamus-pituitary axis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000864
37 retinal coloboma 60 33 occasional (7.5%) Occasional (29-5%) HP:0000480
38 malformation of the heart and great vessels 60 Occasional (29-5%)
39 oral cleft 60 Occasional (29-5%)
40 abnormal pattern of respiration 60 Very frequent (99-80%)

UMLS symptoms related to Joubert Syndrome with Ocular Anomalies:


ataxia

MGI Mouse Phenotypes related to Joubert Syndrome with Ocular Anomalies:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.46 CEP120 CEP41 INPP5E MKS1
2 mortality/aging MP:0010768 9.35 AHI1 CEP120 CEP41 INPP5E MKS1
3 nervous system MP:0003631 9.02 AHI1 CEP120 CEP41 INPP5E MKS1

Drugs & Therapeutics for Joubert Syndrome with Ocular Anomalies

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

Genetic Tests for Joubert Syndrome with Ocular Anomalies

Anatomical Context for Joubert Syndrome with Ocular Anomalies

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

42
Pituitary, Hypothalamus, Brain, Heart, Eye

Publications for Joubert Syndrome with Ocular Anomalies

Variations for Joubert Syndrome with Ocular Anomalies

Expression for Joubert Syndrome with Ocular Anomalies

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

Pathways for Joubert Syndrome with Ocular Anomalies

GO Terms for Joubert Syndrome with Ocular Anomalies

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

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.71 AHI1 CEP41 INPP5E MKS1
2 microtubule organizing center GO:0005815 9.61 CEP120 CEP41 MKS1
3 centrosome GO:0005813 9.56 AHI1 CEP120 CEP41 MKS1
4 cytoskeleton GO:0005856 9.55 AHI1 CEP120 CEP41 INPP5E MKS1
5 ciliary basal body GO:0036064 9.5 AHI1 CEP41 MKS1
6 MKS complex GO:0036038 9.37 AHI1 MKS1
7 cilium GO:0005929 9.26 AHI1 CEP41 INPP5E MKS1
8 centriole GO:0005814 8.92 AHI1 CEP120 CEP41 MKS1

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

# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 9.33 AHI1 CEP41 MKS1
2 cell projection organization GO:0030030 9.13 AHI1 CEP41 MKS1
3 ciliary basal body-plasma membrane docking GO:0097711 8.8 AHI1 CEP41 MKS1

Sources for Joubert Syndrome with Ocular Anomalies

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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