MCID: JBR003
MIFTS: 40

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 21 22 24
 
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 craniofacial microsomia and juberg-hayward syndrome. 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, brain and bone, 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
1craniofacial microsomia10.5CC2D2A, RPGRIP1L, TMEM67
2juberg-hayward syndrome10.4NPHP1, RPGRIP1L, TMEM237
3nephronophthisis 1, juvenile10.4AHI1, NPHP1
4joubert syndrome with oculorenal anomalies10.4AHI1, CEP41, INPP5E
5huntington disease-like 310.3CC2D2A, INPP5E, RPGRIP1L, TMEM67
6panic disorder 210.3NPHP1, TTC21B
7glycogen storage disease ix10.2ARL13B, RPGRIP1L, TTC21B
8coach syndrome10.0
9corneal dystrophy, congenital stromal10.0CEP290, TMEM67
10lipodystrophy, congenital generalized, type 210.0KIF7, TMEM67, TTC21B
11hypopigmentation of eyelid9.9OFD1, TMEM67
12isobutyryl-coa dehydrogenase deficiency9.9KIF7, TMEM216
13ciliopathy9.9
14portal hypertension9.9
15central nervous system angiosarcoma9.8C5orf42, OFD1, TCTN3
16simpson-golabi-behmel syndrome, type 29.7CEP290, OFD1
17chronic gonococcal salpingitis9.4CEP290, INPP5E, NPHP1, TMEM67, TTC21B
18senior-loken syndrome-18.9AHI1, ARL13B, CEP290, NPHP1, TMEM216, TMEM67
19joubert syndrome with renal anomalies8.8CC2D2A, CEP290, TMEM138, TMEM216, TMEM231, TMEM237
20associative agnosia8.7AHI1, ARL13B, C5orf42, CC2D2A, INPP5E, NPHP1
21intermittent squint8.4ARL13B, CEP290, INPP5E, KIF7, NPHP1, RPGRIP1L
22encephalocele anencephaly8.3CC2D2A, CEP290, RPGRIP1L, TCTN2, TCTN3, TMEM216
23orofaciodigital syndrome vii6.9ARL13B, C5orf42, CEP290, KIF7, OFD1, RPGRIP1L
24glucocorticoid-induced osteoporosis6.2AHI1, ARL13B, C5orf42, CC2D2A, CEP290, CEP41
25bardet-biedl syndrome 136.2AHI1, ARL13B, C5orf42, CC2D2A, CEP290, NPHP1
26epileptic encephalopathy, early infantile, 144.7AHI1, ARL13B, C5orf42, CC2D2A, CEP290, CEP41
27juvenile hereditary hemochromatosis4.5AHI1, 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 41329000-38-85281052
2ImmunoglobulinsPhase 24477
3AntibodiesPhase 24477
4AutoantibodiesPhase 2117

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
Heart, Brain, Bone, Spleen, Breast, Monocytes, Endothelial

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 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.1C5orf42, CC2D2A, INPP5E, KIF7, OFD1, TCTN2
2MP:00053887.9ARL13B, C5orf42, CEP290, KIF7, OFD1, RPGRIP1L
3MP:00053677.4AHI1, C5orf42, CC2D2A, CEP290, INPP5E, NPHP1
4MP:00053907.2C5orf42, CEP290, INPP5E, KIF7, OFD1, RPGRIP1L
5MP:00053917.1AHI1, CC2D2A, CEP290, CEP41, INPP5E, KIF7
6MP:00053806.9ARL13B, CC2D2A, CEP41, INPP5E, KIF7, OFD1
7MP:00053716.9C5orf42, CC2D2A, INPP5E, KIF7, OFD1, RPGRIP1L
8MP:00053826.7C5orf42, CC2D2A, CEP290, INPP5E, KIF7, OFD1
9MP:00053846.5AHI1, CC2D2A, CEP290, INPP5E, KIF7, NPHP1
10MP:00053786.2AHI1, ARL13B, C5orf42, CC2D2A, CEP290, INPP5E
11MP:00107686.0AHI1, ARL13B, CC2D2A, CEP290, CEP41, INPP5E
12MP:00053856.0C5orf42, CC2D2A, CEP290, CEP41, KIF7, OFD1
13MP:00036315.7AHI1, 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 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
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
12
Joubert syndrome and related disorders, prenatal diagnosis with ultrasound and magnetic resonance imaging. (24592023)
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:

idNameGO IDScoreTop Affiliating Genes
1axonemeGO:000593010.4INPP5E, RPGRIP1L
2ciliary transition zoneGO:00358699.8CEP290, TMEM237
3centriolar satelliteGO:00344519.5CEP290, OFD1
4cytoskeletonGO:00058569.3INPP5E, NPHP1, TCTN2, TMEM216
5TCTN-B9D complexGO:00360389.0AHI1, TCTN2, TMEM216, TMEM231
6centrioleGO:00058148.8CEP290, CEP41, OFD1

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

idNameGO IDScoreTop Affiliating Genes
1camera-type eye developmentGO:004301010.4CC2D2A, RPGRIP1L
2establishment of planar polarityGO:000173610.2C5orf42, RPGRIP1L
3smoothened signaling pathwayGO:000722410.1ARL13B, CC2D2A
4cerebellum developmentGO:00215499.4C5orf42, RPGRIP1L
5organelle organizationGO:00069969.1ARL13B, CC2D2A, NPHP1, RPGRIP1L, TCTN3, TMEM67
6cilium morphogenesisGO:00602718.3CC2D2A, CEP290, TCTN1, TCTN2, TCTN3, TTC21B

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