JSRD
MCID: JBR003
MIFTS: 38

Joubert Syndrome and Related Disorders (JSRD) 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 23 24 27
 
Jsrd 23 24

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 juvenile polymyositis. An important gene associated with Joubert Syndrome and Related Disorders is TMEM231 (Transmembrane Protein 231), and among its related pathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. Affiliated tissues include fetal brain, heart and brain, and related mouse phenotypes are cardiovascular system and skeleton.

GeneReviews 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 24 Joubert Syndrome 25
Joubert Syndrome 26 Joubert Syndrome 27
Joubert Syndrome 28 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 Kiaa0586-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 29)
idRelated DiseaseScoreTop Affiliating Genes
1coach syndrome10.9
2juvenile polymyositis10.2NPHP1, RPGRIP1L
3nephronophthisis 410.1NPHP1, TMEM67
4senior-loken syndrome-110.1AHI1, NPHP1
5juvenile macular degeneration and hypotrichosis10.1AHI1, INPP5E
6dicer1-related disorders10.1CC2D2A, RPGRIP1L, TMEM67
7congenital heart defects, hamartomas of tongue, and polysyndactyly10.1CC2D2A, RPGRIP1L, TMEM67
8hemorrhagic destruction of the brain, subependymal calcification, and cataracts10.1AHI1, TMEM67
9frontonasal dysplasia 310.1CEP290, TMEM67
10hypertensive nephropathy9.9NPHP1, TTC21B
11retinitis pigmentosa 419.9CC2D2A, INPP5E, RPGRIP1L, TMEM67
12puerperal pulmonary embolism9.9AHI1, CC2D2A, CEP290
13familial abdominal aortic aneurysm9.8KIAA0586, TTC21B
14encephalopathy, progressive, with or without lipodystrophy9.8TMEM67, TTC21B
15intestinal schistosomiasis9.8KIAA0586, RPGRIP1L, TTC21B
16primary lateral sclerosis, adult, 19.8KIAA0586, TTC21B
17ciliopathy9.8
18portal hypertension9.8
19engelhard yatziv syndrome9.7CC2D2A, CEP290, RPGRIP1L, TMEM231, TMEM67
20cerebral atherosclerosis9.6CEP290, NPHP1, TMEM67, TTC21B
21age-related hearing impairment 29.5AHI1, CC2D2A, CEP290, INPP5E, RPGRIP1L, TMEM67
22carney complex, type 19.4AHI1, CC2D2A, CEP290, RPGRIP1L, TMEM67, TTC21B
23joubert syndrome 49.4AHI1, CC2D2A, CEP290, NPHP1, TMEM67, TTC21B
24progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 49.4AHI1, CC2D2A, CEP290, NPHP1, RPGRIP1L, TMEM231
25trichomoniasis9.3CEP290, INPP5E, NPHP1, RPGRIP1L, TMEM67, TTC21B
26juvenile ossifying fibroma9.3AHI1, CC2D2A, CEP290, INPP5E, RPGRIP1L, TMEM231
27epilepsy, nocturnal frontal lobe, 59.0AHI1, CC2D2A, CEP290, INPP5E, KIAA0586, NPHP1
28bacillary angiomatosis8.9AHI1, CC2D2A, CEP290, INPP5E, KIAA0586, NPHP1
29lrrk2-related parkinson disease8.7AHI1, CC2D2A, CEP290, INPP5E, KIAA0586, NPHP1

Graphical network of the top 20 diseases related to Joubert Syndrome and Related Disorders:



Diseases related to joubert syndrome and related disorders

Symptoms & Phenotypes for Joubert Syndrome and Related Disorders

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MGI Mouse Phenotypes related to Joubert Syndrome and Related Disorders according to GeneCards Suite gene sharing:

41 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053859.0CC2D2A, CEP290, KIAA0586, RPGRIP1L, TMEM231, TMEM67
2MP:00053908.7CEP290, INPP5E, KIAA0586, RPGRIP1L, TMEM67, TTC21B
3MP:00053808.4CC2D2A, INPP5E, KIAA0586, RPGRIP1L, TMEM231, TMEM67
4MP:00053718.4CC2D2A, INPP5E, KIAA0586, RPGRIP1L, TMEM231, TMEM67
5MP:00053828.4CC2D2A, CEP290, INPP5E, KIAA0586, RPGRIP1L, TMEM67
6MP:00053787.9AHI1, CC2D2A, CEP290, INPP5E, KIAA0586, RPGRIP1L
7MP:00107687.6AHI1, CC2D2A, CEP290, INPP5E, KIAA0586, RPGRIP1L
8MP:00053847.5AHI1, CC2D2A, CEP290, INPP5E, KIAA0586, NPHP1
9MP:00053677.2AHI1, CC2D2A, CEP290, INPP5E, NPHP1, RPGRIP1L
10MP:00036317.2AHI1, CC2D2A, CEP290, INPP5E, KIAA0586, RPGRIP1L
11MP:00053916.9AHI1, CC2D2A, CEP290, INPP5E, NPHP1, RPGRIP1L

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 41619000-38-8
2ImmunoglobulinsPhase 26394
3AntibodiesPhase 26394
4AutoantibodiesPhase 2130

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 Disorders27 24 TTC21B

Anatomical Context for Joubert Syndrome and Related Disorders

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

36
Fetal brain, Heart, Brain

Publications for Joubert Syndrome and Related Disorders

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Articles related to Joubert Syndrome and Related Disorders:

(show all 23)
idTitleAuthorsYear
1
Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center. (28125082)
2017
2
Enlarged intracranial translucency and molar tooth sign in the first-trimester as part of Joubert syndrome and related disorders (JSRD). (26748614)
2016
3
Joubert syndrome and related disorders: a rare cause of intrahepatic portal hypertension in childhood. (26166658)
2015
4
The diagnostic utility of exome sequencing in Joubert syndrome and related disorders. (26500016)
2015
5
Erratum: Mutation spectrum of Joubert syndrome and related disorders among Arabs. (27082236)
2015
6
Mutation spectrum of Joubert syndrome and related disorders among Arabs. (27081510)
2014
7
A commentary on the diagnostic utility of exome sequencing in Joubert syndrome and related disorders. (23190750)
2013
8
Joubert syndrome and related disorders. (23622411)
2013
9
Prenatal abnormal features of the fourth ventricle in the setting of Joubert syndrome and related disorders. (23868831)
2013
10
The diagnostic utility of exome sequencing in Joubert syndrome and related disorders. (23034536)
2013
11
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. (23386033)
2013
12
Joubert syndrome and related disorders]. (23023437)
2012
13
Joubert syndrome and related disorders, prenatal diagnosis with ultrasound and magnetic resonance imaging. (24592023)
2012
14
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
15
Joubert syndrome and related disorders: spectrum of neuroimaging findings in 75 patients. (21680654)
2011
16
Joubert Syndrome and related disorders. (20615230)
2010
17
Clinical and molecular features of Joubert syndrome and related disorders. (19876931)
2009
18
Genotypes and phenotypes of Joubert syndrome and related disorders. (18164675)
2008
19
Joubert syndrome (and related disorders) (OMIM 213300). (17377524)
2007
20
Genetic complexity in Joubert syndrome and related disorders. (18046420)
2007
21
Molar tooth sign in fetal brain magnetic resonance imaging leading to the prenatal diagnosis of Joubert syndrome and related disorders. (16900929)
2006
22
Genetic basis of Joubert syndrome and related disorders of cerebellar development. (16244321)
2005
23
Joubert Syndrome and Related Disorders (20301500)
1993

Variations for Joubert Syndrome and Related Disorders

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Clinvar genetic disease variations for Joubert Syndrome and Related Disorders:

5
id Gene Variation Type Significance SNP ID Assembly Location
1TMEM231NM_ 001077418.2(TMEM231): c.665-11T> CSNVPathogenicrs886039807GRCh38Chr 16, 75541466: 75541466
2CEP290NM_ 025114.3(CEP290): c.4811G> A (p.Trp1604Ter)SNVPathogenicrs886039808GRCh37Chr 12, 88477625: 88477625
3KIAA0586NM_ 001244189.1(KIAA0586): c.4191delA (p.Arg1397Serfs)deletionPathogenicrs886039809GRCh38Chr 14, 58498824: 58498824

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
1ciliary membraneGO:006017010.6TMEM231, TMEM67
2adherens junctionGO:00059129.9AHI1, NPHP1
3centrioleGO:00058149.8AHI1, CEP290, KIAA0586
4microtubule organizing centerGO:00058159.7CEP290, KIAA0586, RPGRIP1L
5cell-cell junctionGO:00059119.3AHI1, NPHP1, RPGRIP1L
6ciliary basal bodyGO:00360649.3AHI1, CEP290, KIAA0586, RPGRIP1L
7ciliary transition zoneGO:00358699.3CC2D2A, CEP290, RPGRIP1L, TMEM231, TMEM67
8photoreceptor connecting ciliumGO:00323919.0CEP290, NPHP1, RPGRIP1L
9centrosomeGO:00058138.9AHI1, CEP290, KIAA0586, RPGRIP1L, TMEM67
10MKS complexGO:00360388.6AHI1, CC2D2A, CEP290, TMEM231, TMEM67
11ciliumGO:00059296.9AHI1, CC2D2A, CEP290, INPP5E, NPHP1, RPGRIP1L
12cytoplasmGO:00057376.8AHI1, CC2D2A, CEP290, INPP5E, KIAA0586, NPHP1
13cytoskeletonGO:00058566.7AHI1, CC2D2A, CEP290, INPP5E, KIAA0586, NPHP1
14cell projectionGO:00429956.6AHI1, CC2D2A, CEP290, INPP5E, KIAA0586, NPHP1

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1regulation of establishment of protein localizationGO:007020110.3CEP290, KIAA0586
2camera-type eye developmentGO:004301010.2CC2D2A, RPGRIP1L
3regulation of smoothened signaling pathwayGO:000858910.1RPGRIP1L, TTC21B
4determination of left/right symmetryGO:000736810.1CC2D2A, RPGRIP1L
5non-motile cilium assemblyGO:190551510.0CC2D2A, RPGRIP1L
6hindbrain developmentGO:00309029.9AHI1, CEP290
7smoothened signaling pathwayGO:00072249.0CC2D2A, KIAA0586, TMEM231, TTC21B
8ciliary basal body dockingGO:00977118.0AHI1, CC2D2A, CEP290, NPHP1, RPGRIP1L, TMEM67
9cilium assemblyGO:00602717.9AHI1, CC2D2A, CEP290, KIAA0586, RPGRIP1L, TMEM231
10cell projection organizationGO:00300307.9AHI1, CC2D2A, CEP290, KIAA0586, NPHP1, TMEM231

Sources for Joubert Syndrome and Related Disorders

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet