JSRD
MCID: JBR003
MIFTS: 40

Joubert Syndrome and Related Disorders (JSRD) malady

Genetic diseases, Rare diseases, Nephrological diseases, Neuronal diseases, Eye diseases, Fetal diseases, Ear diseases, Bone diseases, Oral diseases categories

Summaries for Joubert Syndrome and Related Disorders

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20GeneReviews, 34MalaCards
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MalaCards: Joubert Syndrome and Related Disorders, also known as JSRD, is related to joubert syndrome and joubert syndrome 2. An important gene associated with Joubert Syndrome and Related Disorders is TTC21B (tetratricopeptide repeat domain 21B), and among its related pathways is Regulation of PLK1 Activity at G2/M Transition. Affiliated tissues include brain, heart and fetal brain, and related mouse phenotypes are respiratory system and digestive/alimentary.

GeneReviews summary for joubert

Aliases & Classifications for Joubert Syndrome and Related Disorders

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20GeneReviews, 21GeneTests
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Classifications:



Aliases & Descriptions:

joubert syndrome and related disorders 20 21
jsrd 20


Related Diseases for Joubert Syndrome and Related Disorders

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18GeneCards, 19GeneDecks
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Diseases in the Joubert Syndrome 2 family:

Joubert Syndrome joubert syndrome and related disorders
Ahi1-Related Joubert Syndrome Nphp1-Related Joubert Syndrome
Inpp5e-Related Joubert Syndrome Cep290-Related Joubert Syndrome
Tmem67-Related Joubert Syndrome Rpgrip1l-Related Joubert Syndrome
Arl13b-Related Joubert Syndrome Cc2d2a-Related Joubert Syndrome
Ofd1-Related Joubert Syndrome Tmem216-Related Joubert Syndrome
Kif7-Related Joubert Syndrome Tctn1-Related Joubert Syndrome
Tctn2-Related Joubert Syndrome Tmem237-Related Joubert Syndrome
Ttc21b-Related Joubert Syndrome Cep41-Related Joubert Syndrome
Tmem138-Related Joubert Syndrome C5orf42-Related Joubert Syndrome
Tctn3-Related Joubert Syndrome Tmem231-Related Joubert Syndrome
Joubert Syndrome 14 Joubert Syndrome 22
Joubert Syndrome 8 Joubert Syndrome 9
Joubert Syndrome 17 Joubert Syndrome 15
Joubert Syndrome 21 Joubert Syndrome 6
Joubert Syndrome 18 Joubert Syndrome 16
Joubert Syndrome 13 Joubert Syndrome 12
Joubert Syndrome 19 Joubert Syndrome 7
Joubert Syndrome 20 Joubert Syndrome 10

Diseases related to Joubert Syndrome and Related Disorders via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 18)
idRelated DiseaseScoreTop Affiliating Genes
1joubert syndrome31.0ARL13B, NPHP1, OFD1, RPGRIP1L, CC2D2A, CEP290
2joubert syndrome 210.1TMEM216
3joubert syndrome 1410.1TMEM237
4orofaciodigital syndrome10.1OFD1
5bardet-biedl syndrome 1410.1CEP290
6larsen syndrome10.1OFD1
7nephronophthisis 110.1AHI1, NPHP1
8doid:401910.0NPHP1, TMEM216, TMEM231, INPP5E
9apraxia10.0INPP5E, TMEM231, TMEM216, NPHP1
10polycystic kidney disease10.0OFD1, TMEM67
11bardet-biedl syndrome10.0CEP290, TTC21B
12coach syndrome10.0RPGRIP1L, CC2D2A, TMEM67
13fundus dystrophy10.0AHI1, CEP290, CC2D2A, NPHP1
14seckel syndrome10.0TTC21B, TMEM67, TMEM216, CEP290
15asphyxiating thoracic dystrophy10.0ARL13B, CC2D2A, TTC21B
16cystic kidney9.9ARL13B, NPHP1, OFD1, CC2D2A, CEP290, TMEM67
17polydactyly9.8AHI1, ARL13B, OFD1, CC2D2A, CEP290, TCTN1
18nephronophthisis9.8OFD1, RPGRIP1L, CC2D2A, CEP290, TMEM216, TMEM67

Graphical network of diseases related to Joubert Syndrome and Related Disorders:



Diseases related to joubert syndrome and related disorders

Symptoms for Joubert Syndrome and Related Disorders

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Drugs & Therapeutics for Joubert Syndrome and Related Disorders

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Joubert Syndrome and Related Disorders

Drug clinical trials:

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Genetic Tests for Joubert Syndrome and Related Disorders

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21GeneTests
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Genetic tests related to Joubert Syndrome and Related Disorders:

id Genetic test Affiliating Genes
1 Joubert Syndrome and Related Disorders21 TTC21B
2 Joubert Syndrome and Related Disorders Multi-Gene Panels21

Anatomical Context for Joubert Syndrome and Related Disorders

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34MalaCards
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MalaCards organs/tissues related to Joubert Syndrome and Related Disorders:

34
Brain, Heart, Fetal brain

Animal Models for Joubert Syndrome and Related Disorders or affiliated genes

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38MGI
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Publications for Joubert Syndrome and Related Disorders

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53PubMed
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Articles related to Joubert Syndrome and Related Disorders:

(show all 16)
idTitleAuthorsYear
1
Joubert syndrome and related disorders. (23622411)
2013
2
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. (23386033)
2013
3
The diagnostic utility of exome sequencing in Joubert syndrome and related disorders. (23034536)
2013
4
A commentary on the diagnostic utility of exome sequencing in Joubert syndrome and related disorders. (23190750)
2013
5
Prenatal abnormal features of the fourth ventricle in the setting of Joubert syndrome and related disorders. (23868831)
2013
6
Severe aortic stenosis, bicuspid aortic valve and atrial septal defect in a child with Joubert Syndrome and Related Disorders (JSRD) - a case report and review of congenital heart defects reported in the human ciliopathies. (22910529)
2012
7
Joubert syndrome and related disorders]. (23023437)
2012
8
Joubert syndrome and related disorders: spectrum of neuroimaging findings in 75 patients. (21680654)
2011
9
Joubert Syndrome and related disorders. (20615230)
2010
10
Clinical and molecular features of Joubert syndrome and related disorders. (19876931)
2009
11
Genotypes and phenotypes of Joubert syndrome and related disorders. (18164675)
2008
12
Joubert syndrome (and related disorders) (OMIM 213300). (17377524)
2007
13
Genetic complexity in Joubert syndrome and related disorders. (18046420)
2007
14
Molar tooth sign in fetal brain magnetic resonance imaging leading to the prenatal diagnosis of Joubert syndrome and related disorders. (16900929)
2006
15
Genetic basis of Joubert syndrome and related disorders of cerebellar development. (16244321)
2005
16
Joubert Syndrome and Related Disorders (20301500)
1993

Variations for Joubert Syndrome and Related Disorders

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Expression for genes affiliated with Joubert Syndrome and Related Disorders

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Joubert Syndrome and Related Disorders

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Pathways for genes affiliated with Joubert Syndrome and Related Disorders

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51PathCards, 56Reactome
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Pathways related to Joubert Syndrome and Related Disorders according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.3OFD1, CEP290, CEP41

Compounds for genes affiliated with Joubert Syndrome and Related Disorders

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GO Terms for genes affiliated with Joubert Syndrome and Related Disorders

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17Gene Ontology
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Cellular components related to Joubert Syndrome and Related Disorders according to GeneCards/GeneDecks:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1adherens junctionGO:0059129.9NPHP1, AHI1
2centrioleGO:0058149.7OFD1, CEP41, AHI1
3primary ciliumGO:0723729.7AHI1, CEP41, ARL13B
4photoreceptor connecting ciliumGO:0323919.7NPHP1, CEP290
5ciliary transition zoneGO:0358699.7CC2D2A, TMEM237, TMEM231
6ciliary membraneGO:0601709.6ARL13B, TMEM231, TMEM67
7cell-cell junctionGO:0059119.4AHI1, RPGRIP1L, NPHP1
8axonemeGO:0059309.3INPP5E, RPGRIP1L
9ciliary basal bodyGO:0360649.2AHI1, CEP41, RPGRIP1L, OFD1
10cytoskeletonGO:0058568.7INPP5E, TTC21B, TMEM216, TCTN1, TCTN2, CC2D2A
11centrosomeGO:0058138.4AHI1, TMEM67, CEP41, CEP290, RPGRIP1L, OFD1
12ciliumGO:0059298.3AHI1, TTC21B, TMEM138, TMEM216, RPGRIP1L, KIF7
13TCTN-B9D complexGO:0360388.2CC2D2A, AHI1, TMEM67, TMEM231, TMEM216, TCTN1
14integral component of membraneGO:0160217.7TMEM138, TMEM231, TMEM216, TMEM237, TCTN3, TCTN2

Biological processes related to Joubert Syndrome and Related Disorders according to GeneCards/GeneDecks:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1photoreceptor cell outer segment organizationGO:03584510.2AHI1, NPHP1
2cellular protein localizationGO:0346139.9NPHP1, AHI1
3hindbrain developmentGO:0309029.9CEP290, AHI1
4regulation of smoothened signaling pathwayGO:0085899.7RPGRIP1L, TCTN1
5retina development in camera-type eyeGO:0600419.7NPHP1, CEP290
6neural tube patterningGO:0215329.6RPGRIP1L, ARL13B
7G2/M transition of mitotic cell cycleGO:0000869.4CEP41, CEP290, OFD1
8establishment or maintenance of cell polarityGO:0071639.3RPGRIP1L, CEP290
9determination of left/right symmetryGO:0073689.1ARL13B, RPGRIP1L
10smoothened signaling pathwayGO:0072248.5TTC21B, TMEM231, TCTN3, TCTN2, CC2D2A, ARL13B
11cilium morphogenesisGO:0602717.4CC2D2A, CEP290, TCTN2, TCTN1, TCTN3, TMEM216
12cilium assemblyGO:0423846.5ARL13B, AHI1, TMEM67, RPGRIP1L, CC2D2A, CEP290

Products for genes affiliated with Joubert Syndrome and Related Disorders

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Sources for Joubert Syndrome and Related Disorders

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet