CORS
MCID: JBR001
MIFTS: 57

Joubert Syndrome (CORS) malady

Genetic diseases, Rare diseases, Nephrological diseases, Neuronal diseases, Eye diseases, Fetal diseases, Ear diseases, Bone diseases, Oral diseases categories
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Summaries for Joubert Syndrome

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8Disease Ontology, 21Genetics Home Reference, 43NIH Rare Diseases, 44NINDS, 65Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 Joubert syndrome is a disorder that affects many parts of the body.  the signs and symptoms vary among affected individuals, even among members of the same family.  the hallmark feature of joubert syndrome is a brain abnormality called the molar tooth sign, which can be seen on brain imaging studies such as magnetic resonance imaging (mri).  most infants with joubert syndrome have weak muscle tone (hypotonia), episodes of unusually fast or slow breathing (hyperpnoea) and abnormal eye movements.  individuals with joubert syndrome can have delayed development and mild to severe intellectual disabilities.   distinctive facial features are also characteristic of joubert syndrome.  mutations in one of 10 known genes have been found in about half of all cases with joubert syndrome and related disorders.  in the remaining cases, the genetic cause is unknown.  this condition typically has an autosomal recessive pattern of inheritance.  rare cases of joubert syndrome are inherited in an x-linked recessive pattern. last updated: 8/19/2011

MalaCards: Joubert Syndrome, also known as joubert syndrome 1, is related to joubert syndrome 2 and joubert syndrome 14. An important gene associated with Joubert Syndrome is INPP5E (inositol polyphosphate-5-phosphatase, 72 kDa), and among its related pathways is Inositol phosphate metabolism. Affiliated tissues include brain, eye and cerebellum, and related mouse phenotypes are renal/urinary system and nervous system.

Disease Ontology:8 An autosomal recessive disease that is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones resulting from dysfunction of ciliary proteins (ciliopathy).

Genetics Home Reference:21 Joubert syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family.

NINDS:44 Joubert syndrome is a rare brain malformation characterized by the absence or underdevelopment of the

Wikipedia:65 Joubert syndrome is a rare genetic disorder that affects the cerebellum, an area of the brain that... more...

Description from OMIM:47 213300

Aliases & Classifications for Joubert Syndrome

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8Disease Ontology, 65Wikipedia, 43NIH Rare Diseases, 21Genetics Home Reference, 44NINDS, 22GTR, 47OMIM, 62UMLS
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Classifications:



Aliases & Descriptions:

joubert syndrome 8 65 43 21 44
joubert syndrome 1 43 22 47
familial aplasia of the vermis 21 62
cerebellooculorenal syndrome 1 43 21
cerebelloparenchymal disorder 4 43
cerebello-oculo-renal syndrome 21
agenesis of cerebellar vermis 21
joubert-boltshauser syndrome 43
joubert-bolthauser syndrome 21
cerebellar vermis agenesis 43
jbts1 43
cors1 43
cors 21
cpd4 43
jbts 21


External Ids:

Disease Ontology8 DOID:0050777
OMIM47 213300

Related Diseases for Joubert Syndrome

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17GeneCards, 18GeneDecks
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Diseases in the Joubert Syndrome 2 family:

joubert syndrome Joubert Syndrome and Related Disorders
Ahi1-Related Joubert Syndrome Nphp1-Related Joubert Syndrome
Inpp5e-Related Joubert Syndrome Cep290-Related Joubert Syndrome
Tmem67-Related Joubert Syndrome Rpgrip1l-Related Joubert Syndrome
Arl13b-Related Joubert Syndrome Cc2d2a-Related Joubert Syndrome
Ofd1-Related Joubert Syndrome Tmem216-Related Joubert Syndrome
Kif7-Related Joubert Syndrome Tctn1-Related Joubert Syndrome
Tctn2-Related Joubert Syndrome Tmem237-Related Joubert Syndrome
Ttc21b-Related Joubert Syndrome Cep41-Related Joubert Syndrome
Tmem138-Related Joubert Syndrome C5orf42-Related Joubert Syndrome
Tctn3-Related Joubert Syndrome Tmem231-Related Joubert Syndrome
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 18 Joubert Syndrome 16
Joubert Syndrome 13 Joubert Syndrome 12
Joubert Syndrome 19 Joubert Syndrome 7
Joubert Syndrome 20 Joubert Syndrome 10

Diseases related to Joubert Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 249)
idRelated DiseaseScoreTop Affiliating Genes
1joubert syndrome 230.8TMEM216
2joubert syndrome 1430.6TMEM237
3nephronophthisis30.6AHI1, INPP5E, TMEM216, CEP290
4apraxia30.1INPP5E, TMEM231, TMEM216
5polydactyly30.1AHI1, TMEM231, TMEM216, CEP290
6cor pulmonale11.2
7cor triatriatum11.2
8cor triatriatum sinister10.8
9cor triatriatum dexter10.7
10acute cor pulmonale10.7
11joubert syndrome and related disorders10.6
12hypertension10.6
13cor biloculare10.5
14coach syndrome10.5
15joubert syndrome 2110.5
16pulmonary embolism10.5
17joubert syndrome with oculorenal anomalies10.4
18joubert syndrome with renal anomalies10.4
19isolated cerebellar vermis agenesis10.4
20isolated partial cerebellar vermis agenesis10.4
21isolated total cerebellar vermis agenesis10.4
22joubert syndrome with ocular anomalies10.3
23joubert syndrome 610.3
24cystic fibrosis10.3
25infertility10.3
26male infertility10.3
27obstructive lung disease10.3
28coloboma10.3
29cc2d2a-related joubert syndrome10.3
30ataxia10.3
31joubert syndrome 2210.3
32joubert syndrome 1010.3
33bronchitis10.3
34pulmonary tuberculosis10.3
35tetralogy of fallot10.3
36congenital heart disease10.3
37tuberculosis10.3
38anterior horn cell disease10.2
39chorioretinitis10.2
40hepatitis10.2
41kidney disease10.2
42retinitis10.2
43orofaciodigital syndrome 610.2
44ahi1-related joubert syndrome10.2
45nphp1-related joubert syndrome10.2
46cep290-related joubert syndrome10.2
47tmem67-related joubert syndrome10.2
48arl13b-related joubert syndrome10.2
49ofd1-related joubert syndrome10.2
50tmem216-related joubert syndrome10.2

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



Diseases related to joubert syndrome

Symptoms for Joubert Syndrome

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47OMIM
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Symptoms by clinical synopsis from OMIM:

213300

Clinical features from OMIM:

213300

Drugs & Therapeutics for Joubert Syndrome

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Joubert Syndrome

Search NIH Clinical Center for Joubert Syndrome

Genetic Tests for Joubert Syndrome

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22GTR
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Genetic tests related to Joubert Syndrome:

id Genetic test Affiliating Genes
1 Joubert Syndrome 122

Anatomical Context for Joubert Syndrome

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33MalaCards
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MalaCards organs/tissues related to Joubert Syndrome:

33
Brain, Eye, Cerebellum, Kidney, Spinal cord, Heart, Liver, Testes, Fetal brain

Animal Models for Joubert Syndrome or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Joubert Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.9AHI1, INPP5E, CEP290
2MP:00036318.4CEP290, TMEM231, INPP5E, AHI1
3MP:00053918.3CEP290, TMEM231, INPP5E, AHI1

Publications for Joubert Syndrome

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52PubMed
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Articles related to Joubert Syndrome:

(show top 50)    (show all 230)
idTitleAuthorsYear
1
Structural insights into the small G-protein Arl13B and implications for Joubert syndrome. (24168557)
2014
2
Anesthetic management of an infant with Joubert syndrome for cardiac surgery. (23965207)
2013
3
A novel case of natural killer cell deficiency associated with Joubert syndrome. (23509923)
2013
4
Joubert syndrome: Clinical and radiological characteristics of nine patients. (23956573)
2013
5
Joubert syndrome and related disorders. (23622411)
2013
6
Joubert syndrome: report of 11 cases. (23692786)
2012
7
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
8
Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. (21633164)
2011
9
Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome. (21623382)
2011
10
Is hearing loss a feature of Joubert syndrome, a ciliopathy? (20591505)
2010
11
Role of MR imaging in prenatal diagnosis of pregnancies at risk for Joubert syndrome and related cerebellar disorders. (19942698)
2010
12
Clonidine as a sole sedative agent for MRI study in a child with Joubert syndrome. (20609123)
2010
13
Normal cognitive functions in joubert syndrome. (20446224)
2009
14
Cilia localization is essential for in vivo functions of the Joubert syndrome protein Arl13b/Scorpion. (19906870)
2009
15
Joubert syndrome associated with new MRI findings and posterior reversible encephalopathy syndrome. (19402575)
2009
16
Species differences in the expression of Ahi1, a protein implicated in the neurodevelopmental disorder Joubert syndrome, with preferential accumulation to stigmoid bodies. (18785627)
2008
17
Association of common variants in the Joubert syndrome gene (AHI1) with autism. (18782849)
2008
18
Molar tooth sign: neuroimaging characteristic of Joubert syndrome. (18688166)
2008
19
Joubert syndrome surviving to adulthood associated with a progressive movement disorder. (17149728)
2007
20
High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations. (17409309)
2007
21
Lack of NPHP2 mutations in a newborn infant with Joubert syndrome-related disorder presenting as end-stage renal disease. (17216245)
2007
22
Joubert syndrome (and related disorders) (OMIM 213300). (17377524)
2007
23
Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Loken syndrome. (17617513)
2007
24
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. (17558407)
2007
25
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. (17564967)
2007
26
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. (17160906)
2007
27
Parenting stress and its relationship to the behavior of children with Joubert syndrome. (16566885)
2006
28
Burkitt lymphoma in a child with Joubert syndrome. (15562502)
2005
29
Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRI. (15966043)
2005
30
Joubert syndrome may provide clues about human evolution. (15461986)
2004
31
Joubert syndrome co-existing with partial Xp trisomy: review of the literature. (15517825)
2004
32
Joubert syndrome: review and report of seven new cases. (15272893)
2004
33
Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome. (15322546)
2004
34
Prenatal diagnosis for Joubert syndrome? (15582788)
2004
35
Recognition of the clinical signs and symptoms of Joubert syndrome. (14502525)
2003
36
Joubert syndrome: more than lower cerebellar vermis hypoplasia, less than a complex brain malformation. (11992490)
2002
37
Joubert syndrome with associated corpus callosum agenesis. (11993957)
2002
38
Prenatal diagnosis of Joubert syndrome: a case report. (11810643)
2002
39
Joubert syndrome. (11568384)
2001
40
Patient with large 17p11.2 deletion presenting with Smith-Magenis syndrome and Joubert syndrome phenotype. (11146468)
2000
41
Parental burden, coping, and family functioning in primary caregivers of children with Joubert syndrome. (10511336)
1999
42
Coexistence of Gaucher disease type 1 and Joubert syndrome. (9832051)
1998
43
Joubert syndrome: are kidneys involved? (8719748)
1995
44
Joubert syndrome with polydactyly and optic coloboma in two sibs. (7721382)
1994
45
Joubert syndrome. (7896345)
1994
46
Joubert syndrome in Chinese infants and children: a report of four cases. (8299032)
1993
47
On Saraiva and Baraitser and Joubert syndrome: a review. (8362922)
1993
48
Joubert syndrome: a review. (1341417)
1992
49
Variability of outcome in Joubert syndrome. (3974803)
1985
50
Joubert syndrome: a case confirmed by computerized tomography. (7390033)
1980

Variations for Joubert Syndrome

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Joubert Syndrome:

64
id Symbol AA change Variation ID SNP ID
1INPP5Ep.Arg378CysVAR_063012
2INPP5Ep.Arg435GlnVAR_063013
3INPP5Ep.Arg512TrpVAR_063014
4INPP5Ep.Arg515TrpVAR_063015
5INPP5Ep.Arg563HisVAR_063016
6INPP5Ep.Lys580GluVAR_063017

Clinvar genetic disease variations for Joubert Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1RPGRIP1LNM_001127897.1(RPGRIP1L): c.685G> A (p.Ala229Thr)single nucleotide variantBenign, Likely benign, Pathogenic, risk factorrs61747071GRCh37Chr 16, 53720436: 53720436
2TMEM237NM_001044385.2(TMEM237): c.52C> T (p.Arg18Ter)single nucleotide variantPathogenicrs199469707GRCh37Chr 2, 202505638: 202505638

Expression for genes affiliated with Joubert Syndrome

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Joubert Syndrome

Search GEO for disease gene expression data for Joubert Syndrome.

Pathways for genes affiliated with Joubert Syndrome

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50PathCards, 55Reactome, 30KEGG, 38NCBI BioSystems Database
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Pathways related to Joubert Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
D-myo-inositol-5-phosphate metabolism38
superpathway of D-myo-inositol (1,4,5)-trisphosphate metabolism38
D-myo-inositol (1,4,5)-trisphosphate degradation38
superpathway of inositol phosphate compounds38
1D-myo-inositol hexakisphosphate biosynthesis V (from Ins(1,3,4)P3)38
D-myo-inositol (1,4,5)-trisphosphate biosynthesis38
myo-inositol biosynthesis38
1D-myo-inositol hexakisphosphate biosynthesis II (mammalian)38
D-myo-inositol (1,3,4)-trisphosphate biosynthesis38
9.5TMEM216, INPP5E

Compounds for genes affiliated with Joubert Syndrome

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GO Terms for genes affiliated with Joubert Syndrome

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16Gene Ontology
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Cellular components related to Joubert Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ciliary transition zoneGO:0358699.1TMEM237, TMEM231
2ciliumGO:0059298.6TMEM216, TMEM138, AHI1
3TCTN-B9D complexGO:0360388.1CEP290, TMEM216, TMEM231, AHI1

Biological processes related to Joubert Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1hindbrain developmentGO:0309029.6CEP290, AHI1
2cilium morphogenesisGO:0602718.7CEP290, TMEM216, AHI1
3cilium assemblyGO:0423847.0CEP290, AHI1, TMEM138, TMEM231, TMEM216, TMEM237

Products for genes affiliated with Joubert Syndrome

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Sources for Joubert Syndrome

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet