CORS
MCID: JBR001
MIFTS: 49

Joubert Syndrome (CORS) malady

Nephrological, Genetic categories

Summaries for Joubert Syndrome

Sources:
8Disease Ontology, 21Genetics Home Reference, 43NIH Rare Diseases, 44NINDS, 64Wikipedia, 47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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 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, cerebellum and spinal cord, 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:44 Joubert syndrome is a rare brain malformation characterized by the absence or underdevelopment of the

Wikipedia:64 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

Sources:
8Disease Ontology, 64Wikipedia, 43NIH Rare Diseases, 21Genetics Home Reference, 44NINDS, 61UMLS, 47OMIM
See all sources

Classifications:

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


Aliases & Descriptions:

joubert syndrome 8 64 43 21 44
cerebellooculorenal syndrome 1 43 21
familial aplasia of the vermis 21 61
cerebelloparenchymal disorder 4 43
cerebello-oculo-renal syndrome 21
agenesis of cerebellar vermis 21
joubert-bolthauser syndrome 21
cerebellar vermis agenesis 43
cors1 43
jbts 21
cors 21
cpd4 43


External Ids:

Disease Ontology8 DOID:0050777
OMIM47 213300

Related Diseases for Joubert Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the joubert syndrome 2 family:

joubert syndrome joubert syndrome and related disorders
joubert syndrome with oculorenal anomalies joubert syndrome with ocular anomalies
joubert syndrome with renal anomalies 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 230)
idRelated DiseaseScoreTop Affiliating Genes
1joubert syndrome 230.7TMEM216
2nephronophthisis30.6TTC21B, TMEM216, TMEM67, CEP290, INPP5E, AHI1
3coach syndrome30.6TMEM67, CC2D2A, RPGRIP1L
4joubert syndrome with oculorenal anomalies30.5CEP290, LCA10
5cerebellar hypoplasia30.1WNT1
6asphyxiating thoracic dystrophy30.1CC2D2A, ARL13B, TTC21B
7apraxia30.1NPHP1, INPP5E, TMEM216, TMEM231
8polydactyly30.1CC2D2A, ARL13B, OFD1, AHI1, TCTN3, TMEM216
9leber congenital amaurosis29.9CEP290
10polycystic kidney disease29.9TMEM67, OFD1
11n syndrome10.8
12cor triatriatum10.7
13pulmonary disease, chronic obstructive10.6
14cor pulmonale10.5
15joubert syndrome with renal anomalies10.4
16joubert syndrome 1510.4
17coloboma10.4
18kid syndrome10.4
19joubert syndrome 610.4
20joubert syndrome 110.4
21cystic fibrosis10.3
22cor triatriatum sinister10.3
23isolated cerebellar vermis agenesis10.3
24isolated partial cerebellar vermis agenesis10.3
25isolated total cerebellar vermis agenesis10.3
26meckel syndrome10.3
27joubert syndrome with ocular anomalies10.3
28joubert syndrome 1410.3
29joubert syndrome 1010.3
30infertility10.3
31bronchitis10.3
32atrioventricular septal defect10.3
33pulmonary vein stenosis10.3
34char syndrome10.3
35joubert syndrome and related disorders10.3
36ahi1-related joubert syndrome10.3
37nphp1-related joubert syndrome10.3
38cep290-related joubert syndrome10.3
39tmem67-related joubert syndrome10.3
40cc2d2a-related joubert syndrome10.3
41ataxia10.3
42joubert syndrome 910.3
43joubert syndrome 2010.3
44pulmonary tuberculosis10.3
45tuberculosis10.3
46anterior horn cell disease10.2
47pulmonary edema10.2
48asthma10.2
49cor triatriatum dexter10.2
50bod syndrome10.2

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



Diseases related to joubert syndrome

Clinical Features for Joubert Syndrome

Sources:
47OMIM
See all sources

Clinical features from OMIM:

213300

Drugs & Therapeutics for Joubert Syndrome

Sources:
5CenterWatch, 42NIH 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

Anatomical Context for Joubert Syndrome

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Joubert Syndrome:

33
Brain, Cerebellum, Spinal cord, Heart, Kidney, Liver, B cells, Fetal brain, Cerebellum peduncles, Fetal liver

Animal Models for Joubert Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Joubert Syndrome

Sources:
51PubMed
See all sources

Articles related to Joubert Syndrome:

(show top 50)    (show all 238)
idTitleAuthorsYear
1
Anesthetic management of an infant with Joubert syndrome for cardiac surgery. (23965207)
2013
2
A novel case of natural killer cell deficiency associated with Joubert syndrome. (23509923)
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
Joubert syndrome: report of 11 cases. (23692786)
2012
6
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
7
Joubert syndrome: brain and spinal cord malformations in genotyped cases and implications for neurodevelopmental functions of primary cilia. (22331178)
2012
8
Investigating embryonic expression patterns and evolution of AHI1 and CEP290 genes, implicated in Joubert syndrome. (23028714)
2012
9
Craniovertebral junction abnormality in a case of Joubert syndrome. (22231569)
2012
10
Mutations in TMEM231 cause Joubert syndrome in French Canadians. (23012439)
2012
11
Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation. (20036350)
2010
12
Cilia localization is essential for in vivo functions of the Joubert syndrome protein Arl13b/Scorpion. (19906870)
2009
13
Neuroleptic malignant syndrome due to risperidone treatment in a child with Joubert syndrome. (19331262)
2009
14
MRI findings in Joubert syndrome. (19129991)
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
Teaching NeuroImages: Molar tooth sign with hypotonia, ataxia, and nystagmus (Joubert syndrome) and hypothyroidism. (20018634)
2009
18
Eye movement abnormalities in Joubert syndrome. (19443711)
2009
19
Molar tooth sign: neuroimaging characteristic of Joubert syndrome. (18688166)
2008
20
Lack of NPHP2 mutations in a newborn infant with Joubert syndrome-related disorder presenting as end-stage renal disease. (17216245)
2007
21
Joubert syndrome (and related disorders) (OMIM 213300). (17377524)
2007
22
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. (17558407)
2007
23
Joubert syndrome: a major brain malformation. (18178993)
2007
24
Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome. (16240161)
2006
25
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. (16682970)
2006
26
Postoperative respiratory complications in Joubert syndrome. (16879526)
2006
27
Molar tooth sign in fetal brain magnetic resonance imaging leading to the prenatal diagnosis of Joubert syndrome and related disorders. (16900929)
2006
28
Burkitt lymphoma in a child with Joubert syndrome. (15562502)
2005
29
Genetic basis of Joubert syndrome and related disorders of cerebellar development. (16244321)
2005
30
Joubert syndrome associated with lissencephaly. (15923702)
2005
31
Joubert syndrome: review and report of seven new cases. (15272893)
2004
32
Renal disease in Arima syndrome is nephronophthisis as in other Joubert-related Cerebello-oculo-renal syndromes. (15384098)
2004
33
Prenatal diagnosis for Joubert syndrome? (15582788)
2004
34
Mutational analysis of BARHL1 and BARX1 in three new patients with Joubert syndrome. (15487006)
2004
35
Joubert syndrome: long-term follow-up. (15473174)
2004
36
Joubert syndrome: a haplotype segregation strategy and exclusion of the zinc finger protein of cerebellum 1 (ZIC1) gene. (14981711)
2004
37
Recognition of the clinical signs and symptoms of Joubert syndrome. (14502525)
2003
38
Quantitative assessment of brainstem development in Joubert syndrome and Dandy-Walker syndrome. (11669349)
2001
39
OFD II, OFD VI, and Joubert syndrome manifestations in 2 sibs. (10748413)
2000
40
Coexistence of Gaucher disease type 1 and Joubert syndrome. (10636737)
1999
41
A better understanding of Joubert syndrome. (10488898)
1999
42
Cerebellar and brainstem development: an overview in relation to Joubert syndrome. (10488901)
1999
43
Neuropathology of Joubert syndrome. (10511338)
1999
44
Magnetic resonance imaging features and classification of central nervous system malformations in Joubert syndrome. (10511334)
1999
45
Neurobehavioral development in Joubert syndrome. (9721895)
1998
46
Anaesthetic management of children with Joubert syndrome. (9189974)
1997
47
Autistic features in Joubert syndrome: a genetic disorder with agenesis of the cerebellar vermis. (2015333)
1991
48
Joubert syndrome: a clinical and pathological description of an affected male and a female fetus from the same sibship. (1887836)
1991
49
Rare syndromes. II. Joubert syndrome: a review of the 43 cases published in the literature. (3334170)
1987
50
Uncommon syndromes of cerebellar vermis aplasia. I: Joubert syndrome. (729929)
1978

Genetic Variations for Joubert Syndrome

Expression for genes affiliated with Joubert Syndrome

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

Sources:
54Reactome
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

GO Terms for genes affiliated with Joubert Syndrome

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, CC2D2A, TMEM237
2photoreceptor connecting ciliumGO:03239110.3NPHP1, CEP290
3adherens junctionGO:00591210.3AHI1, NPHP1
4cell-cell junctionGO:00591110.2AHI1, NPHP1, RPGRIP1L
5centrioleGO:00581410.2OFD1, CEP41, AHI1
6cilium axonemeGO:03508510.2NPHP1, RPGRIP1L, TTC21B, INPP5E
7primary ciliumGO:07237210.2CEP41, AHI1
8TCTN-B9D complexGO:03603810.1CC2D2A, TMEM216, TMEM67, TMEM231, CEP290, AHI1
9ciliumGO:00592910.1TMEM138, TMEM216, OFD1, RPGRIP1L, ARL13B, AHI1
10microtubule basal bodyGO:00593210.0TMEM216, AHI1, CEP290, OFD1, CC2D2A, RPGRIP1L
11centrosomeGO:00581310.0CEP41, TMEM67, AHI1, OFD1, CEP290, RPGRIP1L
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:00008610.1OFD1, CEP41, CEP290
6smoothened signaling pathwayGO:00722410.1CC2D2A, TMEM231, TCTN3, TTC21B
7determination of left/right symmetryGO:00736810.0ARL13B, RPGRIP1L
8cilium morphogenesisGO:0602719.8CC2D2A, CEP290, TMEM67, TMEM216, TCTN3, TTC21B
9cilium assemblyGO:0423849.6TMEM231, TMEM138, TMEM237, TMEM67, TMEM216, AHI1

Products for genes affiliated with Joubert Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Joubert Syndrome

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet