MCID: JBR003
MIFTS: 37

Joubert Syndrome and Related Disorders malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases, Nephrological diseases

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 22 23 25
 
Jsrd 22 23

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 creatine deficiency syndromes and jeune syndrome situs inversus. 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 heart, fetal brain and brain, and related mouse phenotypes are digestive/alimentary and respiratory system.

GeneReviews summary for NBK1325

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 Cspp1-Related Joubert Syndrome
Pde6d-Related Joubert Syndrome 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
1creatine deficiency syndromes10.5CC2D2A, RPGRIP1L, TMEM67
2jeune syndrome situs inversus10.4NPHP1, RPGRIP1L, TMEM237
3jejunal atresia with renal adysplasia10.4AHI1, CEP41, INPP5E
4nephronophthisis 410.3NPHP1, TMEM67
5huntington disease-like 310.3CC2D2A, INPP5E, RPGRIP1L, TMEM67
6taeniasis10.2ARL13B, RPGRIP1L, TTC21B
7coach syndrome10.0
8corneal dystrophy, congenital stromal10.0CEP290, TMEM67
9lipodystrophy, congenital generalized, type 210.0KIF7, TMEM67, TTC21B
10hypertrichosis of eyelid9.9OFD1, TMEM67
11ciliopathy9.9
12portal hypertension9.9
13isobutyryl-coa dehydrogenase deficiency9.9KIF7, TMEM216, TMEM67
14pediatric angiosarcoma9.8C5orf42, OFD1, TCTN3
15joubert syndrome 109.6CEP290, OFD1
16auditory agnosia9.2AHI1, ARL13B, CC2D2A, INPP5E, NPHP1, TMEM216
17scar contracture9.0CC2D2A, CEP290, NPHP1, OFD1, RPGRIP1L
18chiari malformation8.7CC2D2A, CEP290, TMEM138, TMEM216, TMEM231, TMEM237
19telangiectasis8.7AHI1, CEP290, INPP5E, NPHP1, RPGRIP1L, TMEM216
20senior-loken syndrome-18.7AHI1, ARL13B, CC2D2A, CEP290, NPHP1, TMEM216
21telogen effluvium8.4ARL13B, CEP290, INPP5E, KIF7, NPHP1, RPGRIP1L
22cleft tongue8.3CC2D2A, CEP290, RPGRIP1L, TCTN2, TCTN3, TMEM216
23acrofacial dysostosis7.7ARL13B, C5orf42, KIF7, OFD1, RPGRIP1L, TCTN3
24acrodermatitis chronica atrophicans6.9AHI1, ARL13B, CC2D2A, CEP290, INPP5E, KIF7
25progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 46.6AHI1, ARL13B, CC2D2A, CEP290, NPHP1, RPGRIP1L
26epileptic encephalopathy, early infantile, 144.6AHI1, ARL13B, C5orf42, CC2D2A, CEP290, CEP41
27kat6b-related disorders4.4AHI1, 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 41379000-38-8

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 Disorders25 23 TTC21B

Anatomical Context for Joubert Syndrome and Related Disorders

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

34
Heart, Fetal brain, Brain

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:

39 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.1C5orf42, CC2D2A, INPP5E, KIF7, OFD1, TCTN2
2MP:00053887.7ARL13B, C5orf42, CC2D2A, CEP290, KIF7, OFD1
3MP:00053907.2C5orf42, CEP290, INPP5E, KIF7, OFD1, RPGRIP1L
4MP:00053677.2AHI1, C5orf42, CC2D2A, CEP290, INPP5E, NPHP1
5MP:00053827.1C5orf42, CC2D2A, CEP290, INPP5E, KIF7, OFD1
6MP:00053917.1AHI1, CC2D2A, CEP290, INPP5E, KIF7, NPHP1
7MP:00053856.4C5orf42, CC2D2A, CEP290, CEP41, KIF7, OFD1
8MP:00053846.3AHI1, C5orf42, CC2D2A, CEP290, INPP5E, KIF7
9MP:00053806.3ARL13B, C5orf42, CC2D2A, CEP41, INPP5E, KIF7
10MP:00053716.2C5orf42, CC2D2A, INPP5E, KIF7, OFD1, RPGRIP1L
11MP:00053786.2AHI1, ARL13B, C5orf42, CC2D2A, CEP290, INPP5E
12MP:00107685.7AHI1, ARL13B, C5orf42, CC2D2A, CEP290, CEP41
13MP:00036315.1AHI1, ARL13B, C5orf42, CC2D2A, CEP290, CEP41

Publications for Joubert Syndrome and Related Disorders

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Articles related to Joubert Syndrome and Related Disorders:

(show all 22)
idTitleAuthorsYear
1
Enlarged intracranial translucency and molar tooth sign in the first-trimester as part of Joubert syndrome and related disorders (JSRD). (26748614)
2016
2
Joubert syndrome and related disorders: a rare cause of intrahepatic portal hypertension in childhood. (26166658)
2015
3
Erratum: Mutation spectrum of Joubert syndrome and related disorders among Arabs. (27082236)
2015
4
The diagnostic utility of exome sequencing in Joubert syndrome and related disorders. (26500016)
2015
5
Mutation spectrum of Joubert syndrome and related disorders among Arabs. (27081510)
2014
6
Joubert syndrome and related disorders. (23622411)
2013
7
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. (23386033)
2013
8
The diagnostic utility of exome sequencing in Joubert syndrome and related disorders. (23034536)
2013
9
A commentary on the diagnostic utility of exome sequencing in Joubert syndrome and related disorders. (23190750)
2013
10
Prenatal abnormal features of the fourth ventricle in the setting of Joubert syndrome and related disorders. (23868831)
2013
11
Joubert syndrome and related disorders, prenatal diagnosis with ultrasound and magnetic resonance imaging. (24592023)
2012
12
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
13
Joubert syndrome and related disorders]. (23023437)
2012
14
Joubert syndrome and related disorders: spectrum of neuroimaging findings in 75 patients. (21680654)
2011
15
Joubert Syndrome and related disorders. (20615230)
2010
16
Clinical and molecular features of Joubert syndrome and related disorders. (19876931)
2009
17
Genotypes and phenotypes of Joubert syndrome and related disorders. (18164675)
2008
18
Joubert syndrome (and related disorders) (OMIM 213300). (17377524)
2007
19
Genetic complexity in Joubert syndrome and related disorders. (18046420)
2007
20
Molar tooth sign in fetal brain magnetic resonance imaging leading to the prenatal diagnosis of Joubert syndrome and related disorders. (16900929)
2006
21
Genetic basis of Joubert syndrome and related disorders of cerebellar development. (16244321)
2005
22
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 14)
idNameGO IDScoreTop Affiliating Genes
1photoreceptor connecting ciliumGO:003239110.1CEP290, NPHP1
2axonemeGO:000593010.0ARL13B, INPP5E, RPGRIP1L
3cell-cell junctionGO:00059119.9AHI1, CEP41, NPHP1, RPGRIP1L
4centriolar satelliteGO:00344519.8CEP290, OFD1
5primary ciliumGO:00723729.8AHI1, ARL13B, CEP41, INPP5E, TTC21B
6centrioleGO:00058149.3AHI1, CEP290, CEP41, OFD1
7ciliary basal bodyGO:00360649.0AHI1, CEP290, CEP41, OFD1, RPGRIP1L
8ciliary membraneGO:00601708.8ARL13B, TCTN2, TCTN3, TMEM231, TMEM67
9cytoskeletonGO:00058568.8CC2D2A, INPP5E, NPHP1, TCTN1, TCTN2, TMEM216
10centrosomeGO:00058138.8AHI1, CEP290, CEP41, OFD1, RPGRIP1L, TMEM67
11MKS complexGO:00360388.0AHI1, CC2D2A, CEP290, TCTN1, TCTN2, TMEM216
12ciliumGO:00059297.9AHI1, ARL13B, CEP41, KIF7, OFD1, RPGRIP1L
13ciliary transition zoneGO:00358697.6C5orf42, CC2D2A, CEP290, RPGRIP1L, TCTN1, TMEM216
14cytosolGO:00058297.0AHI1, CC2D2A, CEP290, CEP41, INPP5E, NPHP1

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1neural tube patterningGO:002153210.5ARL13B, RPGRIP1L
2telencephalon developmentGO:002153710.3RPGRIP1L, TCTN1
3left/right axis specificationGO:007098610.2AHI1, ARL13B
4nonmotile primary cilium assemblyGO:003505810.2ARL13B, CC2D2A
5establishment of planar polarityGO:000173610.1C5orf42, RPGRIP1L
6regulation of smoothened signaling pathwayGO:000858910.1RPGRIP1L, TCTN1, TTC21B
7protein localization to ciliary transition zoneGO:19044919.9C5orf42, CC2D2A, TCTN1
8hindbrain developmentGO:00309029.8AHI1, CEP290
9determination of left/right symmetryGO:00073689.8ARL13B, CC2D2A, RPGRIP1L
10G2/M transition of mitotic cell cycleGO:00000869.0CEP290, CEP41, OFD1
11smoothened signaling pathwayGO:00072248.6ARL13B, CC2D2A, TCTN2, TCTN3, TMEM231, TTC21B
12cilium morphogenesisGO:00602716.9AHI1, CC2D2A, CEP290, OFD1, RPGRIP1L, TCTN1
13cilium assemblyGO:00423846.1AHI1, ARL13B, C5orf42, CC2D2A, CEP290, CEP41

Sources for Joubert Syndrome and Related Disorders

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet