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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Aliases & Descriptions for Joubert Syndrome and Related Disorders:

Name: Joubert Syndrome and Related Disorders 21 22
 
Jsrd 21 22


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 coach syndrome and joubert syndrome 1. An important gene associated with Joubert Syndrome and Related Disorders is TTC21B (Tetratricopeptide Repeat Domain 21B), and among its related pathways are Signaling by Hedgehog and Regulation of PLK1 Activity at G2/M Transition. Affiliated tissues include brain, fetal brain and heart, and related mouse phenotypes are digestive/alimentary and skeleton.

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
Arl13b-Related Joubert Syndrome C5orf42-Related Joubert Syndrome
Cc2d2a-Related Joubert Syndrome Cep290-Related Joubert Syndrome
Cep41-Related Joubert Syndrome Inpp5e-Related Joubert Syndrome
Kif7-Related Joubert Syndrome Nphp1-Related Joubert Syndrome
Ofd1-Related Joubert Syndrome Rpgrip1l-Related Joubert Syndrome
Tctn1-Related Joubert Syndrome Tctn2-Related Joubert Syndrome
Tctn3-Related Joubert Syndrome Tmem138-Related Joubert Syndrome
Tmem216-Related Joubert Syndrome Tmem231-Related Joubert Syndrome
Tmem237-Related Joubert Syndrome Tmem67-Related Joubert Syndrome
Ttc21b-Related Joubert Syndrome Znf423-Related Joubert Syndrome

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

(show all 27)
idRelated DiseaseScoreTop Affiliating Genes
1coach syndrome30.7CC2D2A, RPGRIP1L, TMEM67
2joubert syndrome 127.1AHI1, ARL13B, C5orf42, CC2D2A, CEP290, CEP41
3portal hypertension10.3
4ciliopathy10.3
5craniofacial microsomia10.2CC2D2A, RPGRIP1L, TMEM67
6juberg-hayward syndrome10.2NPHP1, RPGRIP1L, TMEM237
7joubert syndrome with oculorenal anomalies10.2AHI1, CEP41, INPP5E
8cerebrofacial arteriovenous metameric syndrome type 110.1CC2D2A, INPP5E, RPGRIP1L, TMEM67
9nephronophthisis 1, juvenile10.1AHI1, NPHP1
10intestinal schistosomiasis10.1ARL13B, RPGRIP1L, TTC21B
11bardet-biedl syndrome 1410.0CEP290, TMEM67
12bardet-biedl syndrome 110.0KIF7, TMEM67, TTC21B
13acute dacryocystitis10.0OFD1, TMEM67
14oropharynx cancer9.9C5orf42, OFD1, TCTN3
15b cell deficiency9.9CEP290, NPHP1, TMEM67
16simpson-golabi-behmel syndrome, type 29.8CEP290, OFD1
17hydrolethalus syndrome9.7AHI1, KIF7, OFD1, TMEM216, TMEM67
18ophthalmoplegia - intellectual disability - lingua scrotalis9.6C5orf42, KIF7, OFD1, TCTN3, TMEM216
19arteriosclerosis9.6AHI1, C5orf42, CC2D2A, INPP5E, NPHP1, TMEM216
20senior-loken syndrome-19.5AHI1, ARL13B, CC2D2A, CEP290, NPHP1, TMEM216
21tarsal tunnel syndrome9.3ARL13B, CEP290, INPP5E, KIF7, NPHP1, RPGRIP1L
22encephalocele anencephaly9.3CC2D2A, CEP290, RPGRIP1L, TCTN2, TCTN3, TMEM216
23black piedra9.3AHI1, ARL13B, CC2D2A, CEP290, INPP5E, NPHP1
24joubert syndrome with renal anomalies9.2CC2D2A, CEP290, INPP5E, RPGRIP1L, TMEM138, TMEM216
25clear cell meningioma9.1AHI1, ARL13B, CC2D2A, CEP290, INPP5E, NPHP1
26bardet-biedl syndrome 138.7AHI1, ARL13B, CC2D2A, CEP290, NPHP1, RPGRIP1L
27juvenile hereditary hemochromatosis7.7AHI1, ARL13B, C5orf42, CC2D2A, CEP290, CEP41

Graphical network of the top 20 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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Drugs for Joubert Syndrome and Related Disorders (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1KavanutraceuticalPhase 41239000-38-85281052

Interventional clinical trials:

idNameStatusNCT IDPhase
1Cryoenergy Or Radiofrequency for Pulmonary Vein IsolationCompletedNCT00969735Phase 4
2Pilot Study of COR-1 in Heart FailureCompletedNCT01391507Phase 2
3Phenotypic and Genotypic Studies in Congenital and Early Onset AtaxiasCompletedNCT01488461
4UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational ResourceRecruitingNCT01401998

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 Disorders22 TTC21B

Anatomical Context for Joubert Syndrome and Related Disorders

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

33
Brain, Fetal brain, Heart

Animal Models for Joubert Syndrome and Related Disorders or affiliated genes

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MGI Mouse Phenotypes related to Joubert Syndrome and Related Disorders:

38 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.7CC2D2A, INPP5E, KIF7, OFD1, TCTN2, TMEM67
2MP:00053908.1CEP290, INPP5E, KIF7, OFD1, RPGRIP1L, TMEM67
3MP:00053678.1AHI1, CC2D2A, CEP290, INPP5E, NPHP1, OFD1
4MP:00053827.5CC2D2A, CEP290, INPP5E, KIF7, OFD1, RPGRIP1L
5MP:00053717.4CC2D2A, INPP5E, KIF7, OFD1, RPGRIP1L, TCTN1
6MP:00053847.3AHI1, CC2D2A, CEP290, INPP5E, KIF7, OFD1
7MP:00053856.9CC2D2A, CEP290, CEP41, KIF7, OFD1, RPGRIP1L
8MP:00107686.8AHI1, ARL13B, CC2D2A, CEP41, INPP5E, KIF7
9MP:00053916.7AHI1, CC2D2A, CEP290, CEP41, INPP5E, KIF7
10MP:00053806.6ARL13B, CC2D2A, CEP41, INPP5E, KIF7, OFD1
11MP:00036315.5AHI1, ARL13B, CC2D2A, CEP290, CEP41, INPP5E

Publications for Joubert Syndrome and Related Disorders

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Articles related to Joubert Syndrome and Related Disorders:

(show all 19)
idTitleAuthorsYear
1
Joubert syndrome and related disorders: a rare cause of intrahepatic portal hypertension in childhood. (26166658)
2015
2
The diagnostic utility of exome sequencing in Joubert syndrome and related disorders. (26500016)
2015
3
Joubert syndrome and related disorders. (23622411)
2013
4
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. (23386033)
2013
5
The diagnostic utility of exome sequencing in Joubert syndrome and related disorders. (23034536)
2013
6
A commentary on the diagnostic utility of exome sequencing in Joubert syndrome and related disorders. (23190750)
2013
7
Prenatal abnormal features of the fourth ventricle in the setting of Joubert syndrome and related disorders. (23868831)
2013
8
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
9
Joubert syndrome and related disorders, prenatal diagnosis with ultrasound and magnetic resonance imaging. (24592023)
2012
10
Joubert syndrome and related disorders]. (23023437)
2012
11
Joubert syndrome and related disorders: spectrum of neuroimaging findings in 75 patients. (21680654)
2011
12
Joubert Syndrome and related disorders. (20615230)
2010
13
Clinical and molecular features of Joubert syndrome and related disorders. (19876931)
2009
14
Genotypes and phenotypes of Joubert syndrome and related disorders. (18164675)
2008
15
Joubert syndrome (and related disorders) (OMIM 213300). (17377524)
2007
16
Genetic complexity in Joubert syndrome and related disorders. (18046420)
2007
17
Molar tooth sign in fetal brain magnetic resonance imaging leading to the prenatal diagnosis of Joubert syndrome and related disorders. (16900929)
2006
18
Genetic basis of Joubert syndrome and related disorders of cerebellar development. (16244321)
2005
19
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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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 13)
idNameGO IDScoreTop Affiliating Genes
1cell-cell junctionGO:000591110.1AHI1, NPHP1, RPGRIP1L
2axonemeGO:00059309.9ARL13B, INPP5E, RPGRIP1L
3centrioleGO:00058149.9AHI1, CEP41, OFD1
4primary ciliumGO:00723729.8AHI1, ARL13B, CEP41, INPP5E, TTC21B
5photoreceptor connecting ciliumGO:00323919.7CEP290, NPHP1
6centriolar satelliteGO:00344519.6CEP290, OFD1
7ciliary basal bodyGO:00360649.6AHI1, CEP41, OFD1, RPGRIP1L
8ciliary membraneGO:00601709.3ARL13B, TCTN2, TCTN3, TMEM231, TMEM67
9cytoskeletonGO:00058568.5CC2D2A, INPP5E, NPHP1, TCTN1, TCTN2, TMEM216
10centrosomeGO:00058138.4AHI1, CEP290, CEP41, OFD1, RPGRIP1L, TMEM67
11ciliary transition zoneGO:00358697.9CC2D2A, CEP290, NPHP1, RPGRIP1L, TCTN1, TMEM216
12TCTN-B9D complexGO:00360387.9AHI1, CC2D2A, CEP290, TCTN1, TCTN2, TMEM216
13ciliumGO:00059297.2AHI1, ARL13B, CEP41, KIF7, NPHP1, OFD1

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1left/right axis specificationGO:007098610.5AHI1, ARL13B
2neural tube patterningGO:002153210.5ARL13B, RPGRIP1L
3telencephalon developmentGO:002153710.2RPGRIP1L, TCTN1
4regulation of smoothened signaling pathwayGO:000858910.2RPGRIP1L, TCTN1, TTC21B
5ventricular system developmentGO:002159110.1KIF7, TTC21B
6establishment or maintenance of cell polarityGO:00071639.8CEP290, RPGRIP1L
7hindbrain developmentGO:00309029.8AHI1, CEP290
8nonmotile primary cilium assemblyGO:00350589.7ARL13B, CEP290
9retina development in camera-type eyeGO:00600419.4AHI1, CEP290, NPHP1
10G2/M transition of mitotic cell cycleGO:00000868.6CEP290, CEP41, OFD1
11smoothened signaling pathwayGO:00072248.5ARL13B, CC2D2A, KIF7, TCTN2, TCTN3, TMEM231
12cilium morphogenesisGO:00602717.1AHI1, CC2D2A, CEP290, OFD1, RPGRIP1L, TCTN1
13organelle organizationGO:00069966.0ARL13B, CC2D2A, CEP290, CEP41, INPP5E, NPHP1
14cilium assemblyGO:00423845.8AHI1, ARL13B, C5orf42, CC2D2A, CEP290, CEP41

Sources for Joubert Syndrome and Related Disorders

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet