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, Spinal cord, Heart, Liver, Testes, 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
Anesthetic management of an infant with Joubert syndrome for cardiac surgery. (23965207)
2013
2
Joubert syndrome and related disorders. (23622411)
2013
3
A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium. (24166846)
2013
4
The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions. (23532844)
2013
5
Molecular characterization of Joubert syndrome in Saudi Arabia. (22693042)
2012
6
Investigating embryonic expression patterns and evolution of AHI1 and CEP290 genes, implicated in Joubert syndrome. (23028714)
2012
7
Breathing instability in Joubert syndrome. (22095738)
2012
8
Clonidine as a sole sedative agent for MRI study in a child with Joubert syndrome. (20609123)
2010
9
Fetal magnetic resonance imaging demonstration of central nervous system abnormalities and polydactyly associated with Joubert syndrome. (20708542)
2010
10
Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation. (20036350)
2010
11
Structural abnormalities of the brain other than molar tooth sign in Joubert syndrome-related disorders. (20108204)
2010
12
Development and dysmorphism in Joubert syndrome--short case series from India. (19755534)
2010
13
Normal cognitive functions in joubert syndrome. (20446224)
2009
14
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype- phenotype correlation. (19777577)
2009
15
Joubert syndrome associated with patent ductus arteriosus in a newborn infant. (19852437)
2009
16
Joubert syndrome with bilateral polymicrogyria: clinical and neuropathological findings in two brothers. (19533793)
2009
17
Eye movement abnormalities in Joubert syndrome. (19443711)
2009
18
Ahi1, whose human ortholog is mutated in Joubert syndrome, is required for Rab8a localization, ciliogenesis and vesicle trafficking. (19625297)
2009
19
Lack of NPHP2 mutations in a newborn infant with Joubert syndrome-related disorder presenting as end-stage renal disease. (17216245)
2007
20
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. (17160906)
2007
21
Joubert syndrome: a major brain malformation. (18178993)
2007
22
Parenting stress and its relationship to the behavior of children with Joubert syndrome. (16566885)
2006
23
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. (16682973)
2006
24
Postoperative respiratory complications in Joubert syndrome. (16879526)
2006
25
Molar tooth sign in fetal brain magnetic resonance imaging leading to the prenatal diagnosis of Joubert syndrome and related disorders. (16900929)
2006
26
NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders. (15689444)
2005
27
Prenatal diagnosis for Joubert syndrome? (15582788)
2004
28
Mutational analysis of BARHL1 and BARX1 in three new patients with Joubert syndrome. (15487006)
2004
29
Joubert syndrome: a haplotype segregation strategy and exclusion of the zinc finger protein of cerebellum 1 (ZIC1) gene. (14981711)
2004
30
Anesthetic management in Joubert syndrome. (15385018)
2004
31
Recognition of the clinical signs and symptoms of Joubert syndrome. (14502525)
2003
32
Joubert syndrome: more than lower cerebellar vermis hypoplasia, less than a complex brain malformation. (11992490)
2002
33
Joubert syndrome. (11568384)
2001
34
Quantitative assessment of brainstem development in Joubert syndrome and Dandy-Walker syndrome. (11669349)
2001
35
Patient with large 17p11.2 deletion presenting with Smith-Magenis syndrome and Joubert syndrome phenotype. (11146468)
2000
36
OFD II, OFD VI, and Joubert syndrome manifestations in 2 sibs. (10748413)
2000
37
Prenatal diagnosis of Joubert syndrome complicated with encephalocele using two-dimensional and three-dimensional ultrasound. (10623998)
1999
38
Coexistence of Gaucher disease type 1 and Joubert syndrome. (10636737)
1999
39
Joubert syndrome: monozygotic twins with discordant phenotypes. (10511337)
1999
40
A better understanding of Joubert syndrome. (10488898)
1999
41
Cerebello-oculo-renal syndromes including Arima, Senior-LAPken and COACH syndromes: more than just variants of Joubert syndrome. (10508989)
1999
42
Neuropathology of Joubert syndrome. (10511338)
1999
43
Coexistence of Gaucher disease type 1 and Joubert syndrome. (9832051)
1998
44
Anaesthetic management of children with Joubert syndrome. (9189974)
1997
45
On Saraiva and Baraitser and Joubert syndrome: a review. (8362922)
1993
46
Autistic features in Joubert syndrome: a genetic disorder with agenesis of the cerebellar vermis. (2015333)
1991
47
Joubert syndrome: a clinical and pathological description of an affected male and a female fetus from the same sibship. (1887836)
1991
48
Rare syndromes. II. Joubert syndrome: a review of the 43 cases published in the literature. (3334170)
1987
49
Variability of outcome in Joubert syndrome. (3974803)
1985
50
Uncommon syndromes of cerebellar vermis aplasia. I: Joubert syndrome. (729929)
1978

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