MCID: JBR003
MIFTS: 26

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 coach syndrome and craniofacial microsomia. 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, bone and spleen, 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 49)
idRelated DiseaseScoreTop Affiliating Genes
1coach syndrome10.4
2craniofacial microsomia10.3CC2D2A, RPGRIP1L, TMEM67
3juberg-hayward syndrome10.3NPHP1, RPGRIP1L, TMEM237
4nephronophthisis 1, juvenile10.3AHI1, NPHP1
5joubert syndrome with oculorenal anomalies10.3AHI1, CEP41, INPP5E
6huntington disease-like 310.2CC2D2A, INPP5E, RPGRIP1L, TMEM67
7panic disorder 210.2NPHP1, TTC21B
8hiv-110.2
9breast cancer10.2
10multiple system atrophy10.2
11hypertrophic scars10.2
12keloids10.2
13cerebral artery occlusion10.2
14onchocerciasis10.2
15nephrotic syndrome10.2
16shigellosis10.2
17hemolytic-uremic syndrome10.2
18cerebritis10.2
19radiculopathy10.2
20hypotrichosis10.2
21neuronitis10.2
22appendicitis10.2
23influenza10.2
24bullous pemphigoid10.2
25lichen planus10.2
26pulmonary embolism10.2
27hypotrichosis simplex10.2
28microscopic polyangiitis10.2
29oral lichen planus10.2
30transposition of the great arteries10.2
31endotheliitis10.2
32glycogen storage disease ix10.1ARL13B, RPGRIP1L, TTC21B
33corneal dystrophy, congenital stromal10.0CEP290, TMEM67
34lipodystrophy, congenital generalized, type 210.0KIF7, TMEM67, TTC21B
35hypopigmentation of eyelid10.0OFD1, TMEM67
36isobutyryl-coa dehydrogenase deficiency9.9KIF7, TMEM216
37central nervous system angiosarcoma9.9C5orf42, OFD1, TCTN3
38simpson-golabi-behmel syndrome, type 29.8CEP290, OFD1
39chronic gonococcal salpingitis9.6CEP290, INPP5E, NPHP1, TMEM67, TTC21B
40senior-loken syndrome-19.3AHI1, ARL13B, CEP290, NPHP1, TMEM216, TMEM67
41joubert syndrome with renal anomalies9.2CC2D2A, CEP290, TMEM138, TMEM216, TMEM231, TMEM237
42associative agnosia9.1AHI1, ARL13B, C5orf42, CC2D2A, INPP5E, NPHP1
43intermittent squint8.9ARL13B, CEP290, INPP5E, KIF7, NPHP1, RPGRIP1L
44encephalocele anencephaly8.9CC2D2A, CEP290, RPGRIP1L, TCTN2, TCTN3, TMEM216
45orofaciodigital syndrome vii8.0ARL13B, C5orf42, CEP290, KIF7, OFD1, RPGRIP1L
46glucocorticoid-induced osteoporosis7.5AHI1, ARL13B, C5orf42, CC2D2A, CEP290, CEP41
47bardet-biedl syndrome 137.5AHI1, ARL13B, C5orf42, CC2D2A, CEP290, NPHP1
48epileptic encephalopathy, early infantile, 146.5AHI1, ARL13B, C5orf42, CC2D2A, CEP290, CEP41
49juvenile hereditary hemochromatosis6.4AHI1, 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 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, Bone, Spleen, Brain, Monocytes

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 19)
idTitleAuthorsYear
1
Rhinoviral infection and asthma: the detection and management of rhinoviruses by airway epithelial cells. (24355017)
2014
2
Small ruminant nor98 prions share biochemical features with human gerstmann-strAoussler-scheinker disease and variably protease-sensitive prionopathy. (23826096)
2013
3
TFIID TAF6-TAF9 complex formation involves the HEAT repeat-containing C-terminal domain of TAF6 and is modulated by TAF5 protein. (22696218)
2012
4
Infliximab and brucellosis: not the usual suspects, this time. (21243400)
2011
5
Thoracic outlet syndrome: a controversial clinical condition. Part 1: anatomy, and clinical examination/diagnosis. (21655389)
2010
6
Application of an expanded multiplex genotyping assay for the simultaneous detection of Hemoglobin Constant Spring and common deletional alpha-thalassemia mutations. (19919622)
2010
7
Wilms tumor gene protein 1 is associated with ovarian cancer metastasis and modulates cell invasion. (18260155)
2008
8
BCL-2 phosphorylation modulates sensitivity to the BH3 mimetic GX15-070 (Obatoclax) and reduces its synergistic interaction with bortezomib in chronic lymphocytic leukemia cells. (18596739)
2008
9
Clinical guidelines for the medical management of left-sided ulcerative colitis and ulcerative proctitis: summary statement. (17012968)
2006
10
Upregulation of GluR2 decreases intracellular Ca2+ following ischemia in developing gerbils. (15196687)
2004
11
Common heterozygous hemochromatosis gene mutations are risk factors for inflammation and fibrosis in chronic hepatitis C. (15287851)
2004
12
Arthritis in hemochromatosis or iron storage disease. (14673391)
2004
13
COLIA1 Sp1 polymorphism predicts response of femoral neck bone density to cyclical etidronate therapy. (11907712)
2002
14
Clear cell odontogenic carcinoma. Report of two cases and review of the literature. (11447739)
2001
15
Plasmin is a potent and specific chemoattractant for human peripheral monocytes acting via a cyclic guanosine monophosphate-dependent pathway. (9192782)
1997
16
Blood-brain barrier breakdown and increased intercellular adhesion molecule (ICAM-1/CD54) expression after Semliki Forest (A7) virus infection facilitates the development of experimental allergic encephalomyelitis. (8964903)
1996
17
Harnessing graft versus leukemia: implications for IL-2 treatment. (1521084)
1992
18
Primary malignant lymphoma of the spleen. (1392349)
1992
19
Endodermal sinus tumor: the Stanford experience and the first reported case arising in the vulva. (639017)
1978

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