CORS
MCID: JBR001
MIFTS: 66

Joubert Syndrome (CORS) malady

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

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NIH Rare Diseases:42 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 based summary: Joubert Syndrome, also known as joubert syndrome 1, is related to joubert syndrome 2 and joubert syndrome 14, and has symptoms including 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 skeleton and craniofacial.

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).

NINDS:43 Joubert syndrome is a rare brain malformation characterized by the absence or underdevelopment of the

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.

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

Descriptions from OMIM:46 615636, 610688, 612285, 612291, 614424 611560, 614970, 608629, 610188, 614615, 608091, 615665, 213300, 614173, 300804, 614465, 614464, 609583, 614815 more

Aliases & Classifications for Joubert Syndrome

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Joubert Syndrome, Aliases & Descriptions:

Name: Joubert Syndrome 8 65 42 21 43
Joubert Syndrome 1 42 22 46
Cerebelloparenchymal Disorder 4 42 62
Familial Aplasia of the Vermis 21 62
Cerebello-Oculo-Renal Syndrome 21 62
Cerebellooculorenal Syndrome 1 42 21
Agenesis of Cerebellar Vermis 21 62
Jbts1 42 62
 
Jbts 8 21
Joubert-Boltshauser Syndrome 42
Joubert-Bolthauser Syndrome 21
Cerebellar Vermis Agenesis 42
Cors1 42
Cpd4 42
Cors 21


Classifications:



Related Diseases for Joubert Syndrome

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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 250)
idRelated DiseaseScoreTop Affiliating Genes
1joubert syndrome 231.4TMEM216
2joubert syndrome 1430.9TMEM237
3apraxia30.4INPP5E, TMEM231, TMEM216
4coach syndrome30.4CC2D2A, RPGRIP1L, TMEM67
5asphyxiating thoracic dystrophy30.0CC2D2A, ARL13B
6nephronophthisis29.7AHI1, INPP5E, TMEM67, TMEM216, CEP290, CC2D2A
7polydactyly29.0ARL13B, CC2D2A, CEP290, TMEM216, TMEM231, TMEM67
8cor pulmonale11.2
9cor triatriatum11.2
10cor triatriatum sinister10.8
11cor triatriatum dexter10.8
12acute cor pulmonale10.8
13joubert syndrome and related disorders10.7
14hypertension10.6
15pulmonary hypertension10.6
16chronic obstructive pulmonary disease10.6
17cor biloculare10.5
18joubert syndrome with oculorenal anomalies10.5
19joubert syndrome 810.5
20pulmonary embolism10.5
21joubert syndrome with ocular anomalies10.4
22joubert syndrome with renal anomalies10.4
23joubert syndrome 2110.4
24joubert syndrome 610.4
25isolated cerebellar vermis agenesis10.4
26isolated partial cerebellar vermis agenesis10.4
27isolated total cerebellar vermis agenesis10.4
28orofaciodigital syndrome 610.4
29joubert syndrome 1010.4
30cystic fibrosis10.4
31male infertility10.4
32infertility10.4
33bronchitis10.3
34obstructive lung disease10.3
35coloboma10.3
36retinitis10.3
37ataxia10.3
38tetralogy of fallot10.3
39pulmonary tuberculosis10.3
40congenital heart disease10.3
41tuberculosis10.3
42anterior horn cell disease10.3
43agenesis of the corpus callosum10.3
44hepatitis10.3
45meckel syndrome10.3
46cerebritis10.3
47chorioretinitis10.3
48kidney disease10.3
49cc2d2a-related joubert syndrome10.3
50joubert syndrome 910.3

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



Diseases related to joubert syndrome

Symptoms for Joubert Syndrome

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Symptoms by clinical synopsis from OMIM:

213300

Clinical features from OMIM:

615636, 610688, 612285, 612291, 614424, 611560, 614970, 608629, 610188, 614615 608091, 615665, 213300, 614173, 300804, 614465, 614464, 609583, 614815 more

HPO human phenotypes related to Joubert Syndrome:

(show all 44)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 renal cyst HP:0000107
3 macroglossia HP:0000158
4 macrocephaly HP:0000256
5 epicanthus HP:0000286
6 low-set ears HP:0000369
7 anteverted nares HP:0000463
8 ptosis HP:0000508
9 retinal dystrophy HP:0000556
10 chorioretinal coloboma HP:0000567
11 abnormality of saccadic eye movements HP:0000570
12 optic nerve coloboma HP:0000588
13 oculomotor apraxia HP:0000657
14 aggressive behavior HP:0000718
15 self-mutilation HP:0000742
16 hyperactivity HP:0000752
17 postaxial hand polydactyly HP:0001162
18 intellectual disability HP:0001249
19 ataxia HP:0001251
20 muscular hypotonia HP:0001252
21 global developmental delay HP:0001263
22 cerebellar vermis hypoplasia HP:0001320
23 hepatic fibrosis HP:0001395
24 heterogeneous HP:0001425
25 abnormality of the foot HP:0001760
26 dysgenesis of the cerebellar vermis HP:0002195
27 agenesis of cerebellar vermis HP:0002335
28 hypoplasia of the brainstem HP:0002365
29 molar tooth sign on mri HP:0002419
30 brainstem dysplasia HP:0002508
31 highly arched eyebrow HP:0002553
32 neonatal breathing dysregulation HP:0002790
33 central apnea HP:0002871
34 episodic tachypnea HP:0002876
35 phenotypic variability HP:0003812
36 occipital myelomeningocele HP:0007271
37 impaired smooth pursuit HP:0007772
38 retinal dysplasia HP:0007973
39 protruding tongue HP:0010808
40 hemifacial spasm HP:0010828
41 prominent forehead HP:0011220
42 elongated superior cerebellar peduncle HP:0011933
43 enlarged fossa interpeduncularis HP:0100951
44 triangular-shaped open mouth HP:0200096

Drugs & Therapeutics for Joubert Syndrome

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Drug clinical trials:

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Search NIH Clinical Center for Joubert Syndrome

Genetic Tests for Joubert Syndrome

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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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MalaCards organs/tissues related to Joubert Syndrome:

32
Brain, Eye, Cerebellum, Kidney, Spinal cord, Heart, Liver, Testes, Fetal brain

Animal Models for Joubert Syndrome or affiliated genes

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Publications for Joubert Syndrome

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Articles related to Joubert Syndrome:

(show top 50)    (show all 249)
idTitleAuthorsYear
1
Murine Joubert syndrome reveals Hedgehog signaling defects as a potential therapeutic target for nephronophthisis. (24946806)
2014
2
Ocular findings in two siblings with Joubert syndrome. (24531165)
2014
3
Structural insights into the small G-protein Arl13B and implications for Joubert syndrome. (24168557)
2014
4
Joubert syndrome: the clinical and radiological findings. (24605724)
2014
5
Anesthetic management of an infant with Joubert syndrome for cardiac surgery. (23965207)
2013
6
A novel case of natural killer cell deficiency associated with Joubert syndrome. (23509923)
2013
7
Joubert syndrome: Clinical and radiological characteristics of nine patients. (23956573)
2013
8
Joubert syndrome with variable features: presentation of two cases. (24665296)
2013
9
Joubert syndrome and related disorders. (23622411)
2013
10
Joubert syndrome: report of 11 cases. (23692786)
2012
11
Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. (21633164)
2011
12
Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome. (21623382)
2011
13
Is hearing loss a feature of Joubert syndrome, a ciliopathy? (20591505)
2010
14
Role of MR imaging in prenatal diagnosis of pregnancies at risk for Joubert syndrome and related cerebellar disorders. (19942698)
2010
15
Clonidine as a sole sedative agent for MRI study in a child with Joubert syndrome. (20609123)
2010
16
Normal cognitive functions in joubert syndrome. (20446224)
2009
17
Cilia localization is essential for in vivo functions of the Joubert syndrome protein Arl13b/Scorpion. (19906870)
2009
18
Joubert syndrome associated with new MRI findings and posterior reversible encephalopathy syndrome. (19402575)
2009
19
Species differences in the expression of Ahi1, a protein implicated in the neurodevelopmental disorder Joubert syndrome, with preferential accumulation to stigmoid bodies. (18785627)
2008
20
Association of common variants in the Joubert syndrome gene (AHI1) with autism. (18782849)
2008
21
Molar tooth sign: neuroimaging characteristic of Joubert syndrome. (18688166)
2008
22
Joubert syndrome surviving to adulthood associated with a progressive movement disorder. (17149728)
2007
23
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
24
Lack of NPHP2 mutations in a newborn infant with Joubert syndrome-related disorder presenting as end-stage renal disease. (17216245)
2007
25
Joubert syndrome (and related disorders) (OMIM 213300). (17377524)
2007
26
Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Loken syndrome. (17617513)
2007
27
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. (17558407)
2007
28
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. (17564967)
2007
29
Parenting stress and its relationship to the behavior of children with Joubert syndrome. (16566885)
2006
30
Burkitt lymphoma in a child with Joubert syndrome. (15562502)
2005
31
Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRI. (15966043)
2005
32
Joubert syndrome may provide clues about human evolution. (15461986)
2004
33
Joubert syndrome co-existing with partial Xp trisomy: review of the literature. (15517825)
2004
34
Joubert syndrome: review and report of seven new cases. (15272893)
2004
35
Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome. (15322546)
2004
36
Recognition of the clinical signs and symptoms of Joubert syndrome. (14502525)
2003
37
Joubert syndrome: more than lower cerebellar vermis hypoplasia, less than a complex brain malformation. (11992490)
2002
38
Joubert syndrome with associated corpus callosum agenesis. (11993957)
2002
39
Prenatal diagnosis of Joubert syndrome: a case report. (11810643)
2002
40
Joubert syndrome. (11568384)
2001
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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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:

6
id Gene Name Type Significance SNP ID Assembly Location
1RPGRIP1LNM_001127897.1(RPGRIP1L): c.685G> A (p.Ala229Thr)single nucleotide variantPathogenic, risk factorrs61747071GRCh37Chr 16, 53720436: 53720436
2TMEM237NM_001044385.2(TMEM237): c.52C> T (p.Arg18Ter)single nucleotide variantPathogenicrs199469707GRCh37Chr 2, 202505638: 202505638
3INPP5ENM_019892.4(INPP5E): c.1543C> T (p.Arg515Trp)single nucleotide variantPathogenicrs13297509GRCh37Chr 9, 139326282: 139326282
4INPP5ENM_019892.4(INPP5E): c.1688G> A (p.Arg563His)single nucleotide variantPathogenicrs121918128GRCh37Chr 9, 139324843: 139324843
5INPP5ENM_019892.4(INPP5E): c.1304G> A (p.Arg435Gln)single nucleotide variantPathogenicrs121918129GRCh37Chr 9, 139327014: 139327014
6INPP5ENM_019892.4(INPP5E): c.1132C> T (p.Arg378Cys)single nucleotide variantPathogenicrs121918130GRCh37Chr 9, 139327634: 139327634

Expression for genes affiliated with Joubert Syndrome

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Expression patterns in normal tissues for genes affiliated with Joubert Syndrome

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Pathways for genes affiliated with Joubert Syndrome

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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 metabolism37
superpathway of D-myo-inositol (1,4,5)-trisphosphate metabolism37
D-myo-inositol (1,4,5)-trisphosphate degradation37
superpathway of inositol phosphate compounds37
1D-myo-inositol hexakisphosphate biosynthesis V (from Ins(1,3,4)P3)37
D-myo-inositol (1,4,5)-trisphosphate biosynthesis37
myo-inositol biosynthesis37
1D-myo-inositol hexakisphosphate biosynthesis II (mammalian)37
D-myo-inositol (1,3,4)-trisphosphate biosynthesis37
9.8TMEM216, INPP5E

Compounds for genes affiliated with Joubert Syndrome

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GO Terms for genes affiliated with Joubert Syndrome

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Cellular components related to Joubert Syndrome according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1axonemeGO:00593010.0INPP5E, RPGRIP1L
2ciliary basal bodyGO:0360649.8AHI1, RPGRIP1L
3cell-cell junctionGO:0059119.8RPGRIP1L, AHI1
4primary ciliumGO:0723729.6ARL13B, AHI1
5ciliary transition zoneGO:0358699.2TMEM231, TMEM237, CC2D2A
6centrosomeGO:0058139.1AHI1, TMEM67, CEP290, RPGRIP1L
7ciliary membraneGO:0601709.1ARL13B, TMEM231, TMEM67
8cytoskeletonGO:0058568.9CC2D2A, TMEM216, INPP5E
9ciliumGO:0059298.6AHI1, RPGRIP1L, ARL13B, TMEM216, TMEM138
10TCTN-B9D complexGO:0360387.9TMEM231, CC2D2A, CEP290, TMEM216, TMEM67, AHI1
11integral component of membraneGO:0160217.6TMEM67, TMEM231, C5orf42, TMEM237, TMEM216, TMEM138

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1hindbrain developmentGO:0309029.7AHI1, CEP290
2establishment or maintenance of cell polarityGO:0071639.6CEP290, RPGRIP1L
3neural tube patterningGO:0215329.6RPGRIP1L, ARL13B
4determination of left/right symmetryGO:0073689.6RPGRIP1L, ARL13B
5smoothened signaling pathwayGO:0072248.7ARL13B, TMEM231, CC2D2A
6cilium morphogenesisGO:0602718.2CC2D2A, CEP290, TMEM216, TMEM67, AHI1
7cilium assemblyGO:0423846.2CC2D2A, RPGRIP1L, ARL13B, TMEM237, TMEM216, TMEM231

Products for genes affiliated with Joubert Syndrome

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Sources for Joubert Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet