JBTS9
MCID: JBR014
MIFTS: 30

Joubert Syndrome 9 (JBTS9)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Joubert Syndrome 9

MalaCards integrated aliases for Joubert Syndrome 9:

Name: Joubert Syndrome 9 57 12 74 29 13 6 44 72
Jbts9 57 12 74
Joubert Syndrome, Type 9 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
joubert syndrome 9:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111004
MedGen 42 C2676788
UMLS 72 C2676788

Summaries for Joubert Syndrome 9

UniProtKB/Swiss-Prot : 74 Joubert syndrome 9: A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease.

MalaCards based summary : Joubert Syndrome 9, also known as jbts9, is related to joubert syndrome 1. An important gene associated with Joubert Syndrome 9 is CC2D2A (Coiled-Coil And C2 Domain Containing 2A), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. Related phenotypes are seizures and nystagmus

Disease Ontology : 12 A Joubert syndrome that has material basis in homozygous or compound heterozygous mutation in the CC2D2A gene on chromosome 4p15.

More information from OMIM: 612285 PS213300

Related Diseases for Joubert Syndrome 9

Symptoms & Phenotypes for Joubert Syndrome 9

Human phenotypes related to Joubert Syndrome 9:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 seizures 32 occasional (7.5%) HP:0001250
2 nystagmus 32 HP:0000639
3 intellectual disability 32 HP:0001249
4 cataract 32 HP:0000518
5 ventriculomegaly 32 HP:0002119
6 rod-cone dystrophy 32 HP:0000510
7 astigmatism 32 HP:0000483
8 molar tooth sign on mri 32 HP:0002419

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
cataract
astigmatism
retinitis pigmentosa

Neurologic Central Nervous System:
ventriculomegaly
seizures (in some patients)
mental retardation, mild to moderate
molar tooth sign

Clinical features from OMIM:

612285

Drugs & Therapeutics for Joubert Syndrome 9

Search Clinical Trials , NIH Clinical Center for Joubert Syndrome 9

Cochrane evidence based reviews: joubert syndrome 9

Genetic Tests for Joubert Syndrome 9

Genetic tests related to Joubert Syndrome 9:

# Genetic test Affiliating Genes
1 Joubert Syndrome 9 29 CC2D2A

Anatomical Context for Joubert Syndrome 9

Publications for Joubert Syndrome 9

Articles related to Joubert Syndrome 9:

# Title Authors PMID Year
1
CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. 8 71
18950740 2008
2
CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa. 8 71
18387594 2008
3
Exome sequencing can improve diagnosis and alter patient management. 71
22700954 2012
4
Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures. 8
22241855 2012
5
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. 8
22246503 2012
6
Clinical utility gene card for: Joubert syndrome. 71
21448235 2011
7
Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. 71
21633164 2011
8
Joubert Syndrome 71
20301500 2003

Variations for Joubert Syndrome 9

ClinVar genetic disease variations for Joubert Syndrome 9:

6 (show top 50) (show all 56)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CC2D2A NM_001080522.2(CC2D2A): c.2848C> T (p.Arg950Ter) single nucleotide variant Pathogenic rs118204053 4:15560806-15560806 4:15559183-15559183
2 CC2D2A CC2D2A, 1-BP DEL, 3289G deletion Pathogenic
3 CC2D2A NM_001080522.2(CC2D2A): c.3289delG (p.Val1097Phefs) deletion Pathogenic rs386833751 4:15569300-15569300 4:15567677-15567677
4 CC2D2A NM_001080522.2(CC2D2A): c.3341C> T (p.Thr1114Met) single nucleotide variant Pathogenic rs386833752 4:15569352-15569352 4:15567729-15567729
5 CC2D2A NM_001080522.2(CC2D2A): c.3774dup (p.Glu1259Ter) duplication Pathogenic rs386833757 4:15581593-15581593 4:15579970-15579970
6 CC2D2A NM_001080522.2(CC2D2A): c.4179+1delG (p.Gly1394Valfs) deletion Pathogenic rs386833760 4:15589553-15589553 4:15587930-15587930
7 CC2D2A CC2D2A, IVS19DS, G-C, +1 single nucleotide variant Pathogenic
8 CC2D2A NM_001080522.2(CC2D2A): c.1017+1G> A single nucleotide variant Pathogenic rs200407856 4:15517628-15517628 4:15516005-15516005
9 CC2D2A NM_001080522.2(CC2D2A): c.1263_1264insGGCATGTTTTGGCAGCGA (p.Ser422_Arg423insGlyMetPheTrpGlnArg) insertion Pathogenic rs762998472 4:15529183-15529184 4:15527560-15527561
10 CC2D2A NM_001080522.2(CC2D2A): c.1503_1505del (p.Lys501_Asp502delinsAsn) deletion Pathogenic rs863225177 4:15534852-15534854 4:15533229-15533231
11 CC2D2A NM_001080522.2(CC2D2A): c.1558C> T (p.Arg520Ter) single nucleotide variant Pathogenic rs781252161 4:15534907-15534907 4:15533284-15533284
12 CC2D2A NM_001080522.2(CC2D2A): c.1676T> C (p.Leu559Pro) single nucleotide variant Pathogenic rs754221308 4:15538611-15538611 4:15536988-15536988
13 CC2D2A NM_001080522.2(CC2D2A): c.2624C> A (p.Ser875Ter) single nucleotide variant Pathogenic rs200904521 4:15556832-15556832 4:15555209-15555209
14 CC2D2A NM_001080522.2(CC2D2A): c.2671G> A (p.Glu891Lys) single nucleotide variant Pathogenic rs863225178 4:15558972-15558972 4:15557349-15557349
15 CC2D2A NM_001080522.2(CC2D2A): c.2999A> T (p.Glu1000Val) single nucleotide variant Pathogenic rs773881370 4:15562230-15562230 4:15560607-15560607
16 CC2D2A NM_001080522.2(CC2D2A): c.3134T> C (p.Val1045Ala) single nucleotide variant Pathogenic rs863225173 4:15565097-15565097 4:15563474-15563474
17 CC2D2A NM_001080522.2(CC2D2A): c.3288G> C (p.Gln1096His) single nucleotide variant Pathogenic rs863225169 4:15569105-15569105 4:15567482-15567482
18 CC2D2A NM_001080522.2(CC2D2A): c.3452T> C (p.Val1151Ala) single nucleotide variant Pathogenic rs863225170 4:15570969-15570969 4:15569346-15569346
19 CC2D2A NM_001080522.2(CC2D2A): c.3744_3747dup (p.Pro1250fs) duplication Pathogenic rs863225171 4:15575921-15575924 4:15574298-15574301
20 CC2D2A NM_001080522.2(CC2D2A): c.3772-1G> T single nucleotide variant Pathogenic rs863225172 4:15581590-15581590 4:15579967-15579967
21 CC2D2A NM_001080522.2(CC2D2A): c.3850C> T (p.Arg1284Cys) single nucleotide variant Pathogenic rs779823379 4:15581669-15581669 4:15580046-15580046
22 CC2D2A NM_001080522.2(CC2D2A): c.3892_3893del (p.Val1298fs) deletion Pathogenic rs763735590 4:15581710-15581711 4:15580087-15580088
23 CC2D2A NM_001080522.2(CC2D2A): c.3989G> A (p.Arg1330Gln) single nucleotide variant Pathogenic rs763486732 4:15587793-15587793 4:15586170-15586170
24 CC2D2A NM_001080522.2(CC2D2A): c.4226T> C (p.Ile1409Thr) single nucleotide variant Pathogenic rs863225176 4:15591214-15591214 4:15589591-15589591
25 CC2D2A NM_001080522.2(CC2D2A): c.4289T> C (p.Val1430Ala) single nucleotide variant Pathogenic rs863225168 4:15591277-15591277 4:15589654-15589654
26 CC2D2A NM_001080522.2(CC2D2A): c.4491A> C (p.Gln1497His) single nucleotide variant Pathogenic rs863225179 4:15599083-15599083 4:15597460-15597460
27 CC2D2A NM_001080522.2(CC2D2A): c.4741A> G (p.Thr1581Ala) single nucleotide variant Pathogenic rs863225174 4:15602926-15602926 4:15601303-15601303
28 CC2D2A NM_001080522.2(CC2D2A): c.4842_4843CT[1] (p.Ser1615fs) short repeat Pathogenic rs863225175 4:15603028-15603031 4:15601405-15601408
29 CC2D2A NM_001080522.2(CC2D2A): c.2683C> T (p.Gln895Ter) single nucleotide variant Pathogenic rs764719093 4:15558984-15558984 4:15557361-15557361
30 CC2D2A NM_001080522.2(CC2D2A): c.4019_4020AC[1] (p.Thr1341fs) short repeat Pathogenic 4:15587823-15587824 4:15586200-15586201
31 CC2D2A NM_001080522.2(CC2D2A): c.4465_4468del (p.Asp1489fs) deletion Pathogenic/Likely pathogenic rs797045437 4:15599057-15599060 4:15597434-15597437
32 CC2D2A NM_001080522.2(CC2D2A): c.3975+4_3975+7delAGTA deletion Pathogenic/Likely pathogenic rs386833759 4:15581798-15581801 4:15580175-15580178
33 CC2D2A NM_001080522.2(CC2D2A): c.3055C> T (p.Arg1019Ter) single nucleotide variant Pathogenic/Likely pathogenic rs370880399 4:15565018-15565018 4:15563395-15563395
34 CC2D2A NM_001080522.2(CC2D2A): c.3364C> T (p.Pro1122Ser) single nucleotide variant Pathogenic/Likely pathogenic rs118204051 4:15569375-15569375 4:15567752-15567752
35 CC2D2A NM_001080522.2(CC2D2A): c.4582C> T (p.Arg1528Cys) single nucleotide variant Pathogenic/Likely pathogenic rs118204052 4:15601237-15601237 4:15599614-15599614
36 CC2D2A NM_001080522.2(CC2D2A): c.3145C> T (p.Arg1049Ter) single nucleotide variant Pathogenic/Likely pathogenic rs386833750 4:15565108-15565108 4:15563485-15563485
37 CC2D2A NM_001080522.2(CC2D2A): c.3976-3C> A single nucleotide variant Likely pathogenic rs576298659 4:15587777-15587777 4:15586154-15586154
38 CC2D2A NM_001080522.2(CC2D2A): c.3122_3123del (p.Ile1041fs) deletion Likely pathogenic 4:15565085-15565086 4:15563462-15563463
39 CC2D2A NM_001080522.2(CC2D2A): c.585_586dup (p.Thr196fs) duplication Likely pathogenic rs1392635342 4:15512914-15512915 4:15511291-15511292
40 CC2D2A NM_001080522.2(CC2D2A): c.4600T> G (p.Leu1534Val) single nucleotide variant Conflicting interpretations of pathogenicity rs778858648 4:15601255-15601255 4:15599632-15599632
41 CC2D2A NM_001080522.2(CC2D2A): c.4667A> T (p.Asp1556Val) single nucleotide variant Conflicting interpretations of pathogenicity rs201502401 4:15601322-15601322 4:15599699-15599699
42 CC2D2A NM_001080522.2(CC2D2A): c.3594+5G> A single nucleotide variant Conflicting interpretations of pathogenicity rs863225181 4:15572124-15572124 4:15570501-15570501
43 CC2D2A NM_001080522.2(CC2D2A): c.3596T> C (p.Ile1199Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs760918829 4:15575774-15575774 4:15574151-15574151
44 CC2D2A NM_001080522.2(CC2D2A): c.3347C> T (p.Thr1116Met) single nucleotide variant Conflicting interpretations of pathogenicity rs267606709 4:15569358-15569358 4:15567735-15567735
45 CC2D2A NM_001080522.2(CC2D2A): c.2804G> A (p.Arg935Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs187003641 4:15559105-15559105 4:15557482-15557482
46 CC2D2A NM_001080522.2(CC2D2A): c.1837G> A (p.Glu613Lys) single nucleotide variant Uncertain significance rs201439617 4:15539594-15539594 4:15537971-15537971
47 CC2D2A NM_001080522.2(CC2D2A): c.3135G> A (p.Val1045=) single nucleotide variant Uncertain significance rs371608031 4:15565098-15565098 4:15563475-15563475
48 CC2D2A NM_001080522.2(CC2D2A): c.3869T> C (p.Val1290Ala) single nucleotide variant Uncertain significance rs200427832 4:15581688-15581688 4:15580065-15580065
49 CC2D2A NM_001080522.2(CC2D2A): c.2624C> T (p.Ser875Leu) single nucleotide variant Uncertain significance rs200904521 4:15556832-15556832 4:15555209-15555209
50 CC2D2A NM_001080522.2(CC2D2A): c.1946C> T (p.Thr649Met) single nucleotide variant Uncertain significance rs201884883 4:15539703-15539703 4:15538080-15538080

UniProtKB/Swiss-Prot genetic disease variations for Joubert Syndrome 9:

74 (show all 19)
# Symbol AA change Variation ID SNP ID
1 CC2D2A p.Gln1096His VAR_055321 rs863225169
2 CC2D2A p.Pro1122Ser VAR_055322 rs118204051
3 CC2D2A p.Arg1528Cys VAR_055323 rs118204052
4 CC2D2A p.Leu1551Pro VAR_055324 rs763425007
5 CC2D2A p.Thr1114Met VAR_062293 rs386833752
6 CC2D2A p.Pro721Ser VAR_062804 rs199768782
7 CC2D2A p.Asp1556Val VAR_062806 rs201502401
8 CC2D2A p.Thr1116Met VAR_063804 rs267606709
9 CC2D2A p.Glu1447Ala VAR_067535 rs387907058
10 CC2D2A p.Glu1126Lys VAR_068169 rs147353290
11 CC2D2A p.Asn1520Ser VAR_069045 rs147890234
12 CC2D2A p.Tyr1568His VAR_069046
13 CC2D2A p.Trp1182Arg VAR_075698 rs386833755
14 CC2D2A p.Leu559Pro VAR_076883 rs754221308
15 CC2D2A p.Val1045Ala VAR_076886 rs863225173
16 CC2D2A p.Val1151Ala VAR_076887 rs863225170
17 CC2D2A p.Arg1284Cys VAR_076888 rs779823379
18 CC2D2A p.Arg1284His VAR_076889 rs754586025
19 CC2D2A p.Val1430Ala VAR_076891 rs863225168

Expression for Joubert Syndrome 9

Search GEO for disease gene expression data for Joubert Syndrome 9.

Pathways for Joubert Syndrome 9

GO Terms for Joubert Syndrome 9

Cellular components related to Joubert Syndrome 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.16 CEP41 CC2D2A
2 cell projection GO:0042995 8.96 CEP41 CC2D2A
3 cilium GO:0005929 8.62 CEP41 CC2D2A

Biological processes related to Joubert Syndrome 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 9.16 CEP41 CC2D2A
2 cell projection organization GO:0030030 8.96 CEP41 CC2D2A
3 ciliary basal body-plasma membrane docking GO:0097711 8.62 CEP41 CC2D2A

Sources for Joubert Syndrome 9

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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