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

Aliases & Descriptions for Joubert Syndrome and Related Disorders:

Name: Joubert Syndrome and Related Disorders 23 24 29
Jsrd 23 24

Classifications:



Summaries for Joubert Syndrome and Related Disorders

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/superpathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. The drugs Kava and Immunoglobulins have been mentioned in the context of this disorder. Affiliated tissues include heart, brain and fetal brain, and related phenotypes are cellular and craniofacial

GeneReviews: NBK1325

Related Diseases for Joubert Syndrome and Related Disorders

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)
id Related Disease Score Top Affiliating Genes
1 coach syndrome 10.9
2 juvenile polymyositis 10.2 NPHP1 RPGRIP1L
3 nephronophthisis 4 10.1 NPHP1 TMEM67
4 senior-loken syndrome-1 10.1 AHI1 NPHP1
5 juvenile macular degeneration and hypotrichosis 10.1 AHI1 INPP5E
6 dicer1-related disorders 10.1 CC2D2A RPGRIP1L TMEM67
7 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.1 CC2D2A RPGRIP1L TMEM67
8 hemorrhagic destruction of the brain, subependymal calcification, and cataracts 10.1 AHI1 TMEM67
9 frontonasal dysplasia 3 10.1 CEP290 TMEM67
10 hypertensive nephropathy 9.9 NPHP1 TTC21B
11 retinitis pigmentosa 41 9.9 CC2D2A INPP5E RPGRIP1L TMEM67
12 puerperal pulmonary embolism 9.9 AHI1 CC2D2A CEP290
13 familial abdominal aortic aneurysm 9.8 KIAA0586 TTC21B
14 encephalopathy, progressive, with or without lipodystrophy 9.8 TMEM67 TTC21B
15 intestinal schistosomiasis 9.8 KIAA0586 RPGRIP1L TTC21B
16 primary lateral sclerosis, adult, 1 9.8 KIAA0586 TTC21B
17 ciliopathy 9.8
18 portal hypertension 9.8
19 engelhard yatziv syndrome 9.7 CC2D2A CEP290 RPGRIP1L TMEM231 TMEM67
20 cerebral atherosclerosis 9.6 CEP290 NPHP1 TMEM67 TTC21B
21 age-related hearing impairment 2 9.5 AHI1 CC2D2A CEP290 INPP5E RPGRIP1L TMEM67
22 carney complex, type 1 9.4 AHI1 CC2D2A CEP290 RPGRIP1L TMEM67 TTC21B
23 joubert syndrome 4 9.4 AHI1 CC2D2A CEP290 NPHP1 TMEM67 TTC21B
24 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 9.4 AHI1 CC2D2A CEP290 NPHP1 RPGRIP1L TMEM231
25 trichomoniasis 9.3 CEP290 INPP5E NPHP1 RPGRIP1L TMEM67 TTC21B
26 juvenile ossifying fibroma 9.3 AHI1 CC2D2A CEP290 INPP5E RPGRIP1L TMEM231
27 epilepsy, nocturnal frontal lobe, 5 9.0 AHI1 CC2D2A CEP290 INPP5E KIAA0586 NPHP1
28 bacillary angiomatosis 8.9 AHI1 CC2D2A CEP290 INPP5E KIAA0586 NPHP1
29 lrrk2-related parkinson disease 8.7 AHI1 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

MGI Mouse Phenotypes related to Joubert Syndrome and Related Disorders:

44 (show all 11)
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.08 AHI1 CC2D2A CEP290 INPP5E KIAA0586 NPHP1
2 craniofacial MP:0005382 10 CC2D2A CEP290 INPP5E KIAA0586 RPGRIP1L TMEM67
3 embryo MP:0005380 9.98 CC2D2A INPP5E KIAA0586 RPGRIP1L TMEM231 TMEM67
4 cardiovascular system MP:0005385 9.97 CC2D2A CEP290 KIAA0586 RPGRIP1L TMEM231 TMEM67
5 growth/size/body region MP:0005378 9.95 AHI1 CC2D2A CEP290 INPP5E KIAA0586 RPGRIP1L
6 mortality/aging MP:0010768 9.92 AHI1 CC2D2A CEP290 INPP5E KIAA0586 RPGRIP1L
7 limbs/digits/tail MP:0005371 9.91 CC2D2A INPP5E KIAA0586 RPGRIP1L TMEM231 TMEM67
8 nervous system MP:0003631 9.91 RPGRIP1L TMEM231 TMEM67 TTC21B AHI1 CC2D2A
9 renal/urinary system MP:0005367 9.76 AHI1 CC2D2A CEP290 INPP5E NPHP1 RPGRIP1L
10 skeleton MP:0005390 9.43 CEP290 INPP5E KIAA0586 RPGRIP1L TMEM67 TTC21B
11 vision/eye MP:0005391 9.17 AHI1 CC2D2A CEP290 INPP5E NPHP1 RPGRIP1L

Drugs & Therapeutics for Joubert Syndrome and Related Disorders

Drugs for Joubert Syndrome and Related Disorders (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Kava Nutraceutical Phase 4 9000-38-8
2 Immunoglobulins Phase 2
3 Antibodies Phase 2
4 Autoantibodies Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase
1 Cryoenergy Or Radiofrequency for Pulmonary Vein Isolation Completed NCT00969735 Phase 4
2 Pilot Study of COR-1 in Heart Failure Completed NCT01391507 Phase 2
3 Phenotypic and Genotypic Studies in Congenital and Early Onset Ataxias Completed NCT01488461
4 UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource Recruiting NCT01401998

Search NIH Clinical Center for Joubert Syndrome and Related Disorders

Genetic Tests for Joubert Syndrome and Related Disorders

Genetic tests related to Joubert Syndrome and Related Disorders:

id Genetic test Affiliating Genes
1 Joubert Syndrome and Related Disorders 29 24 TTC21B

Anatomical Context for Joubert Syndrome and Related Disorders

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

39
Heart, Brain, Fetal Brain

Publications for Joubert Syndrome and Related Disorders

Articles related to Joubert Syndrome and Related Disorders:

(show all 23)
id Title Authors Year
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

ClinVar genetic disease variations for Joubert Syndrome and Related Disorders:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 CEP290 NM_025114.3(CEP290): c.4811G> A (p.Trp1604Ter) single nucleotide variant Pathogenic rs886039808 GRCh37 Chromosome 12, 88477625: 88477625
2 KIAA0586 NM_001244189.1(KIAA0586): c.4191delA (p.Arg1397Serfs) deletion Pathogenic rs886039809 GRCh38 Chromosome 14, 58498824: 58498824
3 TMEM231 NM_001077418.2(TMEM231): c.665-11T> C single nucleotide variant Pathogenic rs886039807 GRCh38 Chromosome 16, 75541466: 75541466

Expression for Joubert Syndrome and Related Disorders

Search GEO for disease gene expression data for Joubert Syndrome and Related Disorders.

Pathways for Joubert Syndrome and Related Disorders

GO Terms for Joubert Syndrome and Related Disorders

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

(show all 14)
id Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.97 AHI1 CC2D2A CEP290 INPP5E KIAA0586 NPHP1
2 centrosome GO:0005813 9.83 AHI1 CEP290 KIAA0586 RPGRIP1L TMEM67
3 microtubule organizing center GO:0005815 9.71 CEP290 KIAA0586 RPGRIP1L
4 ciliary basal body GO:0036064 9.67 AHI1 CEP290 KIAA0586 RPGRIP1L
5 cell-cell junction GO:0005911 9.65 AHI1 NPHP1 RPGRIP1L
6 ciliary transition zone GO:0035869 9.65 CC2D2A CEP290 RPGRIP1L TMEM231 TMEM67
7 cell projection GO:0042995 9.65 AHI1 CC2D2A CEP290 INPP5E KIAA0586 NPHP1
8 centriole GO:0005814 9.63 AHI1 CEP290 KIAA0586
9 photoreceptor connecting cilium GO:0032391 9.58 CEP290 NPHP1 RPGRIP1L
10 MKS complex GO:0036038 9.55 AHI1 CC2D2A CEP290 TMEM231 TMEM67
11 adherens junction GO:0005912 9.52 AHI1 NPHP1
12 ciliary membrane GO:0060170 9.51 TMEM231 TMEM67
13 cilium GO:0005929 9.28 AHI1 CC2D2A CEP290 INPP5E NPHP1 RPGRIP1L
14 cytoplasm GO:0005737 10.15 AHI1 CC2D2A CEP290 INPP5E KIAA0586 NPHP1

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

id Name GO ID Score Top Affiliating Genes
1 ciliary basal body docking GO:0097711 9.63 AHI1 CC2D2A CEP290 NPHP1 RPGRIP1L TMEM67
2 smoothened signaling pathway GO:0007224 9.56 CC2D2A KIAA0586 TMEM231 TTC21B
3 cilium assembly GO:0060271 9.5 AHI1 CC2D2A CEP290 KIAA0586 RPGRIP1L TMEM231
4 determination of left/right symmetry GO:0007368 9.48 CC2D2A RPGRIP1L
5 camera-type eye development GO:0043010 9.46 CC2D2A RPGRIP1L
6 non-motile cilium assembly GO:1905515 9.43 CC2D2A RPGRIP1L
7 hindbrain development GO:0030902 9.4 AHI1 CEP290
8 regulation of smoothened signaling pathway GO:0008589 9.37 RPGRIP1L TTC21B
9 regulation of establishment of protein localization GO:0070201 9.32 CEP290 KIAA0586
10 cell projection organization GO:0030030 9.17 AHI1 CC2D2A CEP290 KIAA0586 NPHP1 TMEM231

Sources for Joubert Syndrome and Related Disorders

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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