MCID: JBR003
MIFTS: 34

Joubert Syndrome and Related Disorders malady

Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases, Nephrological diseases categories

Aliases & Classifications for Joubert Syndrome and Related Disorders

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Joubert Syndrome and Related Disorders, Aliases & Descriptions:

Name: Joubert Syndrome and Related Disorders 19 20
 
Jsrd 19


Classifications:



Summaries for Joubert Syndrome and Related Disorders

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MalaCards based summary: Joubert Syndrome and Related Disorders, also known as jsrd, is related to joubert syndrome 1 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

Related Diseases for Joubert Syndrome and Related Disorders

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Diseases in the Joubert Syndrome-3 family:

Joubert Syndrome 4 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 1
Joubert Syndrome 18 Joubert Syndrome 16
Joubert Syndrome 2 Joubert Syndrome 5
Joubert Syndrome 13 Joubert Syndrome 7
Joubert Syndrome 20 Joubert Syndrome 10
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

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

(show all 18)
idRelated DiseaseScoreTop Affiliating Genes
1joubert syndrome 129.2AHI1, ARL13B, NPHP1, OFD1, RPGRIP1L, CC2D2A
2joubert syndrome 210.5TMEM216
3joubert syndrome 1410.5TMEM237
4orofaciodigital syndrome10.3OFD1
5bardet-biedl syndrome 1410.3CEP290
6larsen syndrome10.3OFD1
7nephronophthisis 1, juvenile10.3AHI1, NPHP1
8doid:401910.2TMEM231, TMEM216, INPP5E, NPHP1
9apraxia10.2NPHP1, TMEM216, TMEM231, INPP5E
10polycystic kidney disease10.1TMEM67, OFD1
11bardet-biedl syndrome10.0CEP290, TTC21B
12coach syndrome10.0TMEM67, CC2D2A, RPGRIP1L
13fundus dystrophy9.9NPHP1, CC2D2A, CEP290, AHI1
14seckel syndrome9.9TTC21B, TMEM67, TMEM216, CEP290
15asphyxiating thoracic dystrophy9.8CC2D2A, TTC21B, ARL13B
16cystic kidney9.5ARL13B, NPHP1, OFD1, CC2D2A, CEP290, TMEM67
17polydactyly9.2ARL13B, TCTN1, TCTN3, TMEM216, TMEM231, TMEM67
18nephronophthisis9.0NPHP1, AHI1, INPP5E, TTC21B, TMEM67, TMEM216

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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Drug clinical trials:

Search ClinicalTrials for Joubert Syndrome and Related Disorders

Search NIH Clinical Center for Joubert Syndrome and Related Disorders

Genetic Tests for Joubert Syndrome and Related Disorders

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Genetic tests related to Joubert Syndrome and Related Disorders:

id Genetic test Affiliating Genes
1 Joubert Syndrome and Related Disorders20 TTC21B
2 Joubert Syndrome and Related Disorders Multi-Gene Panels20

Anatomical Context for Joubert Syndrome and Related Disorders

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

31
Brain, Heart, Fetal brain

Animal Models for Joubert Syndrome and Related Disorders or affiliated genes

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Publications for Joubert Syndrome and Related Disorders

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Articles related to Joubert Syndrome and Related Disorders:

(show all 15)
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, prenatal diagnosis with ultrasound and magnetic resonance imaging. (24592023)
2012
8
Joubert syndrome and related disorders]. (23023437)
2012
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
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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Search GEO for disease gene expression data for Joubert Syndrome and Related Disorders.

Pathways for genes affiliated with Joubert Syndrome and Related Disorders

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Pathways related to Joubert Syndrome and Related Disorders according to GeneCards Suite gene sharing:

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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Cellular components related to Joubert Syndrome and Related Disorders according to GeneCards Suite gene sharing:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1adherens junctionGO:00059129.9NPHP1, AHI1
2centrioleGO:00058149.7OFD1, CEP41, AHI1
3primary ciliumGO:00723729.7AHI1, CEP41, ARL13B
4photoreceptor connecting ciliumGO:00323919.7NPHP1, CEP290
5ciliary transition zoneGO:00358699.7CC2D2A, TMEM237, TMEM231
6ciliary membraneGO:00601709.6ARL13B, TMEM231, TMEM67
7cell-cell junctionGO:00059119.4AHI1, RPGRIP1L, NPHP1
8axonemeGO:00059309.3INPP5E, RPGRIP1L
9ciliary basal bodyGO:00360649.2AHI1, CEP41, RPGRIP1L, OFD1
10cytoskeletonGO:00058568.7INPP5E, TTC21B, TMEM216, TCTN1, TCTN2, CC2D2A
11centrosomeGO:00058138.4AHI1, TMEM67, CEP41, CEP290, RPGRIP1L, OFD1
12ciliumGO:00059298.3AHI1, TTC21B, TMEM138, TMEM216, RPGRIP1L, KIF7
13TCTN-B9D complexGO:00360388.2CC2D2A, AHI1, TMEM67, TMEM231, TMEM216, TCTN1
14integral component of membraneGO:00160217.7TMEM138, TMEM231, TMEM216, TMEM237, TCTN3, TCTN2

Biological processes related to Joubert Syndrome and Related Disorders according to GeneCards Suite gene sharing:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1photoreceptor cell outer segment organizationGO:003584510.2AHI1, NPHP1
2cellular protein localizationGO:00346139.9NPHP1, AHI1
3hindbrain developmentGO:00309029.9CEP290, AHI1
4regulation of smoothened signaling pathwayGO:00085899.7RPGRIP1L, TCTN1
5retina development in camera-type eyeGO:00600419.7NPHP1, CEP290
6neural tube patterningGO:00215329.6RPGRIP1L, ARL13B
7G2/M transition of mitotic cell cycleGO:00000869.4CEP41, CEP290, OFD1
8establishment or maintenance of cell polarityGO:00071639.3RPGRIP1L, CEP290
9determination of left/right symmetryGO:00073689.1ARL13B, RPGRIP1L
10smoothened signaling pathwayGO:00072248.5TTC21B, TMEM231, TCTN3, TCTN2, CC2D2A, ARL13B
11cilium morphogenesisGO:00602717.4CC2D2A, CEP290, TCTN2, TCTN1, TCTN3, TMEM216
12cilium assemblyGO:00423846.5ARL13B, 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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet