JS-O
MCID: JBR005
MIFTS: 32

Joubert Syndrome with Ocular Anomalies (JS-O)

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 53
Joubert Syndrome 3 53 72
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:



External Ids:

ICD10 via Orphanet 34 H35.5 Q04.3
Orphanet 59 ORPHA220493
UMLS 72 C1837713

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 AHI1 (Abelson Helper Integration Site 1), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. Affiliated tissues include brain, eye and heart, 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 12.6
2 joubert syndrome 6 10.0 MKS1 AHI1
3 meckel syndrome, type 6 10.0 MKS1 AHI1
4 bardet-biedl syndrome 13 9.9 MKS1 AHI1
5 hydrolethalus syndrome 1 9.9 MKS1 AHI1
6 senior-loken syndrome 1 9.8 MKS1 AHI1
7 meckel syndrome, type 1 9.7 MKS1 AHI1
8 fundus dystrophy 9.3 INPP5E AHI1
9 nephronophthisis 9.2 MKS1 INPP5E AHI1
10 joubert syndrome 1 8.2 MKS1 INPP5E CEP41 CEP120 AHI1

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

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
Brain, Eye, Heart, Retina, Pituitary, Hypothalamus

Publications for Joubert Syndrome with Ocular Anomalies

Articles related to Joubert Syndrome with Ocular Anomalies:

# Title Authors PMID Year
1
Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome. 38 71
15322546 2004
2
Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene. 71
25616960 2015
3
The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions. 71
23532844 2013
4
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 71
21937992 2011
5
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. 71
16453322 2006
6
Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome. 71
16240161 2006
7
Joubert Syndrome 71
20301500 2003
8
Distinguishing the four genetic causes of Jouberts syndrome-related disorders. 38
15786477 2005
9
Homozygosity mapping of a third Joubert syndrome locus to 6q23. 38
15060101 2004

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 MKS1 INPP5E CEP41 AHI1
2 microtubule organizing center GO:0005815 9.61 MKS1 CEP41 CEP120
3 centrosome GO:0005813 9.56 MKS1 CEP41 CEP120 AHI1
4 cytoskeleton GO:0005856 9.55 MKS1 INPP5E CEP41 CEP120 AHI1
5 ciliary basal body GO:0036064 9.5 MKS1 CEP41 AHI1
6 MKS complex GO:0036038 9.37 MKS1 AHI1
7 cilium GO:0005929 9.26 MKS1 INPP5E CEP41 AHI1
8 centriole GO:0005814 8.92 MKS1 CEP41 CEP120 AHI1

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 MKS1 CEP41 AHI1
2 cell projection organization GO:0030030 9.13 MKS1 CEP41 AHI1
3 ciliary basal body-plasma membrane docking GO:0097711 8.8 MKS1 CEP41 AHI1

Sources for Joubert Syndrome with Ocular Anomalies

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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