CORS
MCID: JBR001
MIFTS: 51

Joubert Syndrome (CORS) malady

Nephrological diseases, Genetic diseases categories

Summaries for Joubert Syndrome

About this section
Sources:
8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 43NINDS, 63Wikipedia, 46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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: Joubert Syndrome, also known as cerebellooculorenal syndrome 1, is related to joubert syndrome 2 and nephronophthisis. An important gene associated with Joubert Syndrome is CEP290 (centrosomal protein 290kDa), and among its related pathways is Recruitment of mitotic centrosome proteins and complexes. Affiliated tissues include brain, eye and cerebellum, and related mouse phenotypes are limbs/digits/tail and renal/urinary 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:43 Joubert syndrome is a rare brain malformation characterized by the absence or underdevelopment of the

Wikipedia:63 Joubert syndrome is a rare genetic disorder that affects the cerebellum, an area of the brain that... more...

Description from OMIM:46 213300

Aliases & Classifications for Joubert Syndrome

About this section
Sources:
8Disease Ontology, 63Wikipedia, 42NIH Rare Diseases, 21Genetics Home Reference, 43NINDS, 60UMLS, 46OMIM
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases
Anatomical: Nephrological diseases


Aliases & Descriptions:

joubert syndrome 8 63 42 21 43
cerebellooculorenal syndrome 1 42 21
familial aplasia of the vermis 21 60
cerebelloparenchymal disorder 4 42
cerebello-oculo-renal syndrome 21
agenesis of cerebellar vermis 21
joubert-bolthauser syndrome 21
cerebellar vermis agenesis 42
cors1 42
jbts 21
cors 21
cpd4 42


External Ids:

Disease Ontology8 DOID:0050777
OMIM46 213300

Related Diseases for Joubert Syndrome

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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 8
Joubert Syndrome 9 Joubert Syndrome 17
Joubert Syndrome 15 Joubert Syndrome 6
Joubert Syndrome 1 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 245)
idRelated DiseaseScoreTop Affiliating Genes
1joubert syndrome 230.6TMEM216
2nephronophthisis30.6TTC21B, TMEM216, TMEM67, CEP290, INPP5E, AHI1
3joubert syndrome with oculorenal anomalies30.5CEP290, LCA10
4coach syndrome30.4TMEM67, CC2D2A, RPGRIP1L
5asphyxiating thoracic dystrophy30.1CC2D2A, ARL13B, TTC21B
6apraxia30.1NPHP1, INPP5E, TMEM216, TMEM231
7polydactyly30.1CC2D2A, ARL13B, OFD1, AHI1, TCTN3, TMEM216
8leber congenital amaurosis29.9CEP290
9retinal degeneration29.9CEP290, NPHP1
10polycystic kidney disease29.9TMEM67, OFD1
11acute cor pulmonale10.8
12joubert syndrome and related disorders10.7
13hypertension10.6
14pulmonary embolism10.5
15cor triatriatum10.4
16joubert syndrome 1510.4
17image syndrome10.4
18joubert syndrome with renal anomalies10.4
19joubert syndrome 1010.3
20isolated cerebellar vermis agenesis10.3
21isolated partial cerebellar vermis agenesis10.3
22isolated total cerebellar vermis agenesis10.3
23cystic fibrosis10.3
24meckel syndrome10.3
25joubert syndrome with ocular anomalies10.3
26joubert syndrome 1410.3
27joubert syndrome 610.3
28infertility10.3
29male infertility10.3
30bronchitis10.3
31obstructive lung disease10.3
32atrioventricular septal defect10.3
33tetralogy of fallot10.3
34coloboma10.3
35joubert syndrome 110.3
36pulmonary tuberculosis10.2
37tuberculosis10.2
38anterior horn cell disease10.2
39central nervous system disease10.2
40cerebellar disease10.2
41nervous system disease10.2
42pulmonary edema10.2
43leukemia10.2
44thyroiditis10.2
45chorioretinitis10.2
46hepatitis10.2
47kidney disease10.2
48retinitis10.2
49orofaciodigital syndrome 610.2
50ahi1-related joubert syndrome10.2

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



Diseases related to joubert syndrome

Clinical Features for Joubert Syndrome

About this section
Sources:
46OMIM
See all sources

Clinical features from OMIM:

213300

Drugs & Therapeutics for Joubert Syndrome

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Joubert Syndrome

Drug clinical trials:

Search ClinicalTrials for Joubert Syndrome

Search NIH Clinical Center for Joubert Syndrome

Search CenterWatch for Joubert Syndrome

Genetic Tests for Joubert Syndrome

About this section

Anatomical Context for Joubert Syndrome

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Joubert Syndrome:

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

Animal Models for Joubert Syndrome or affiliated genes

About this section
Sources:
36MGI
See all sources

Publications for Joubert Syndrome

About this section
Sources:
50PubMed
See all sources

Articles related to Joubert Syndrome:

(show top 50)    (show all 236)
idTitleAuthorsYear
1
Structural insights into the small G-protein Arl13B and implications for Joubert syndrome. (24168557)
2014
2
Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy. (24360808)
2014
3
Clinical utility gene card for: Joubert syndrome--update 2013. (23403901)
2013
4
Active transport and diffusion barriers restrict Joubert Syndrome-associated ARL13B/ARL-13 to an Inv-like ciliary membrane subdomain. (24339792)
2013
5
Molar tooth sign is not pathognomonic for Joubert syndrome. (24120651)
2013
6
Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures. (22241855)
2012
7
Analysis of human samples reveals impaired SHH-dependent cerebellar development in Joubert syndrome/Meckel syndrome. (23027964)
2012
8
NGAL as an early biomarker of kidney disease in Joubert syndrome: three brothers compared. (22260509)
2012
9
Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations. (22353940)
2012
10
Joubert syndrome and related disorders]. (23023437)
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
The ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome-related disorders. (21679365)
2011
14
Molar tooth sign with ataxia and see-saw nystagmus (Joubert syndrome). (21654929)
2011
15
Is hearing loss a feature of Joubert syndrome, a ciliopathy? (20591505)
2010
16
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). (19574260)
2010
17
Co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy. (20503315)
2010
18
Joubert syndrome type I: neuroimaging findings in addition to the 'molar tooth' sign. (22736560)
2010
19
Hypoplasia of deep cerebellar nuclei in joubert syndrome. (19433286)
2009
20
Species differences in the expression of Ahi1, a protein implicated in the neurodevelopmental disorder Joubert syndrome, with preferential accumulation to stigmoid bodies. (18785627)
2008
21
CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. (18950740)
2008
22
Joubert syndrome (and related disorders) (OMIM 213300). (17377524)
2007
23
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. (17558409)
2007
24
The molar tooth sign of Joubert syndrome. (17420326)
2007
25
Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome. (16240161)
2006
26
Oromotor and communication findings in joubert syndrome: further evidence of multisystem apraxia. (16566884)
2006
27
Brain stem and cerebellar findings in Joubert syndrome. (16365585)
2006
28
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. (16453322)
2006
29
Burkitt lymphoma in a child with Joubert syndrome. (15562502)
2005
30
A girl with abnormal head and eye movements: Joubert syndrome (2005:3b). (15988832)
2005
31
Joubert syndrome is not a cause of classical autism. (15633174)
2005
32
Mitochondrial dysfunction in a patient with Joubert syndrome. (15944909)
2005
33
Joubert syndrome may provide clues about human evolution. (15461986)
2004
34
Renal disease in Arima syndrome is nephronophthisis as in other Joubert-related Cerebello-oculo-renal syndromes. (15384098)
2004
35
Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome. (15322546)
2004
36
Homozygosity mapping of a third Joubert syndrome locus to 6q23. (15060101)
2004
37
Cerebral and cerebellar motor activation abnormalities in a subject with Joubert syndrome: functional magnetic resonance imaging (MRI) study. (15119482)
2004
38
Prenatal diagnosis of Joubert syndrome: a case report. (11810643)
2002
39
Late onset of renal disease in nephronophthisis with features of Joubert syndrome type B. (11733635)
2001
40
Case 25: Joubert syndrome. (10924557)
2000
41
Joubert syndrome: an affected female with bilateral colobomata. (11186426)
2000
42
Image of the month: Joubert syndrome. (10420134)
1999
43
Clinical nosologic and genetic aspects of Joubert and related syndromes. (10511339)
1999
44
Lack of large, homozygous deletions of the nephronophthisis 1 region in Joubert syndrome type B. APN Study Group. Arbeitsgemeinschaft fA1r PAodiatrische Nephrologie. (9502560)
1998
45
Joubert syndrome associated with multicystic kidney disease and hepatic fibrosis. (9438658)
1997
46
Joubert syndrome: are kidneys involved? (8719748)
1995
47
Joubert Syndrome and Related Disorders (20301500)
1993
48
Joubert syndrome. (2470340)
1989
49
Chorioretinal coloboma and Joubert syndrome: a nonrandom association. (6747764)
1984
50
Joubert syndrome: clinical and polygraphic observations in a further case. (7266779)
1981

Genetic Variations for Joubert Syndrome

About this section

Expression for genes affiliated with Joubert Syndrome

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
53Reactome
See all sources

Pathways related to Joubert Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.1CEP290, CEP41, OFD1

Compounds for genes affiliated with Joubert Syndrome

About this section

GO Terms for genes affiliated with Joubert Syndrome

About this section
Sources:
16Gene Ontology
See all sources

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1ciliary transition zoneGO:03586910.3TMEM231, TMEM237, CC2D2A
2photoreceptor connecting ciliumGO:03239110.3CEP290, NPHP1
3adherens junctionGO:00591210.3AHI1, NPHP1
4cell-cell junctionGO:00591110.2RPGRIP1L, NPHP1, AHI1
5centrioleGO:00581410.2CEP41, AHI1, OFD1
6cilium axonemeGO:03508510.2RPGRIP1L, NPHP1, INPP5E, TTC21B
7primary ciliumGO:07237210.2CEP41, AHI1
8TCTN-B9D complexGO:03603810.1CEP290, TMEM231, TMEM67, TMEM216, AHI1, CC2D2A
9ciliumGO:00592910.1RPGRIP1L, ARL13B, OFD1, AHI1, TMEM216, TMEM138
10microtubule basal bodyGO:00593210.0RPGRIP1L, CC2D2A, OFD1, AHI1, TMEM216, TMEM67
11centrosomeGO:00581310.0RPGRIP1L, OFD1, AHI1, TMEM67, CEP41, CEP290
12cilium membraneGO:06017010.0TMEM231, TMEM67

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1photoreceptor cell outer segment organizationGO:03584510.4NPHP1, AHI1
2hindbrain developmentGO:03090210.4CEP290, AHI1
3cellular protein localizationGO:03461310.3AHI1, NPHP1
4establishment or maintenance of cell polarityGO:00716310.2RPGRIP1L, CEP290
5G2/M transition of mitotic cell cycleGO:00008610.1CEP290, CEP41, OFD1
6smoothened signaling pathwayGO:00722410.1TMEM231, TCTN3, TTC21B, CC2D2A
7determination of left/right symmetryGO:00736810.0ARL13B, RPGRIP1L
8cilium morphogenesisGO:0602719.8CC2D2A, OFD1, AHI1, TTC21B, TCTN3, TMEM216
9cilium assemblyGO:0423849.6CEP290, RPGRIP1L, CC2D2A, CEP41, TMEM231, TMEM138

Products for genes affiliated with Joubert Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Joubert Syndrome

About this section
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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet