MCID: JBR005
MIFTS: 35

Joubert Syndrome with Ocular Anomalies

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

Aliases & Classifications for Joubert Syndrome with Ocular Anomalies

MalaCards integrated aliases for Joubert Syndrome with Ocular Anomalies:

Name: Joubert Syndrome with Ocular Anomalies 53
Joubert Syndrome 3 53 73
Joubert Syndrome with Ocular Defect 59
Joubert Syndrome with Retinopathy 59
Jbts3 53
Js-O 59

Characteristics:

Orphanet epidemiological data:

59
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 bardet-biedl syndrome 13, and has symptoms including ataxia An important gene associated with Joubert Syndrome with Ocular Anomalies is MKS1 (Meckel Syndrome, Type 1), 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 heart, and related phenotypes are cleft palate and hydrocephalus

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 12.3
2 bardet-biedl syndrome 13 9.9 AHI1 MKS1
3 senior-loken syndrome 1 9.8 AHI1 MKS1
4 meckel syndrome, type 1 9.7 AHI1 MKS1
5 fundus dystrophy 9.3 AHI1 INPP5E
6 nephronophthisis 9.3 AHI1 INPP5E MKS1
7 joubert syndrome 1 7.6 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:

59 32 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
2 hydrocephalus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000238
3 long face 59 32 frequent (33%) Frequent (79-30%) HP:0000276
4 low-set, posteriorly rotated ears 59 32 occasional (7.5%) Occasional (29-5%) HP:0000368
5 prominent nasal bridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0000426
6 anteverted nares 59 32 occasional (7.5%) Occasional (29-5%) HP:0000463
7 retinal coloboma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000480
8 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
9 ptosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000508
10 retinal dystrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000556
11 visual loss 59 32 occasional (7.5%) Occasional (29-5%) HP:0000572
12 iris coloboma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000612
13 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
14 oculomotor apraxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000657
15 abnormality of the hypothalamus-pituitary axis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000864
16 hand polydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001161
17 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
18 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
19 ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001251
20 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
21 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
22 agenesis of corpus callosum 59 32 occasional (7.5%) Occasional (29-5%) HP:0001274
23 gait disturbance 59 32 frequent (33%) Frequent (79-30%) HP:0001288
24 cerebellar vermis hypoplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001320
25 tremor 59 32 occasional (7.5%) Occasional (29-5%) HP:0001337
26 dextrocardia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001651
27 foot polydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001829
28 encephalocele 59 32 occasional (7.5%) Occasional (29-5%) HP:0002084
29 apnea 59 32 hallmark (90%) Very frequent (99-80%) HP:0002104
30 polymicrogyria 59 32 occasional (7.5%) Occasional (29-5%) HP:0002126
31 aganglionic megacolon 59 32 occasional (7.5%) Occasional (29-5%) HP:0002251
32 molar tooth sign on mri 59 32 hallmark (90%) Very frequent (99-80%) HP:0002419
33 highly arched eyebrow 59 32 occasional (7.5%) Occasional (29-5%) HP:0002553
34 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
35 abnormal vertebral morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0003468
36 biparietal narrowing 59 32 frequent (33%) Frequent (79-30%) HP:0004422
37 feeding difficulties 59 32 frequent (33%) Frequent (79-30%) HP:0011968
38 oral cleft 59 Occasional (29-5%)
39 malformation of the heart and great vessels 59 Occasional (29-5%)
40 abnormal pattern of respiration 59 Very frequent (99-80%)

UMLS symptoms related to Joubert Syndrome with Ocular Anomalies:


ataxia

MGI Mouse Phenotypes related to Joubert Syndrome with Ocular Anomalies:

46
# 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:

41
Pituitary, Hypothalamus, Heart, Brain, 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 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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