JBTS9
MCID: JBR014
MIFTS: 29

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 58 12 76 30 13 6 45 74
Jbts9 58 12 76
Joubert Syndrome, Type 9 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
joubert syndrome 9:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Joubert Syndrome 9

UniProtKB/Swiss-Prot : 76 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. Affiliated tissues include liver and eye, and 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.

Description from OMIM: 612285

Related Diseases for Joubert Syndrome 9

Symptoms & Phenotypes for Joubert Syndrome 9

Human phenotypes related to Joubert Syndrome 9:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 seizures 33 occasional (7.5%) HP:0001250
2 nystagmus 33 HP:0000639
3 intellectual disability 33 HP:0001249
4 cataract 33 HP:0000518
5 ventriculomegaly 33 HP:0002119
6 rod-cone dystrophy 33 HP:0000510
7 astigmatism 33 HP:0000483
8 molar tooth sign on mri 33 HP:0002419

Symptoms via clinical synopsis from OMIM:

58
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 30 CC2D2A

Anatomical Context for Joubert Syndrome 9

MalaCards organs/tissues related to Joubert Syndrome 9:

42
Liver, Eye

Publications for Joubert Syndrome 9

Articles related to Joubert Syndrome 9:

# Title Authors Year
1
CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa. ( 18387594 )
2008
2
CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. ( 18950740 )
2008

Variations for Joubert Syndrome 9

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

76 (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

ClinVar genetic disease variations for Joubert Syndrome 9:

6 (show top 50) (show all 110)
# Gene Variation Type Significance SNP ID Assembly Location
1 CC2D2A CC2D2A, IVS19DS, G-C, +1 single nucleotide variant Pathogenic
2 CC2D2A NM_001080522.2(CC2D2A): c.3364C> T (p.Pro1122Ser) single nucleotide variant Pathogenic/Likely pathogenic rs118204051 GRCh37 Chromosome 4, 15569375: 15569375
3 CC2D2A NM_001080522.2(CC2D2A): c.3364C> T (p.Pro1122Ser) single nucleotide variant Pathogenic/Likely pathogenic rs118204051 GRCh38 Chromosome 4, 15567752: 15567752
4 CC2D2A NM_001080522.2(CC2D2A): c.4582C> T (p.Arg1528Cys) single nucleotide variant Pathogenic/Likely pathogenic rs118204052 GRCh37 Chromosome 4, 15601237: 15601237
5 CC2D2A NM_001080522.2(CC2D2A): c.4582C> T (p.Arg1528Cys) single nucleotide variant Pathogenic/Likely pathogenic rs118204052 GRCh38 Chromosome 4, 15599614: 15599614
6 CC2D2A NM_001080522.2(CC2D2A): c.2848C> T (p.Arg950Ter) single nucleotide variant Pathogenic rs118204053 GRCh37 Chromosome 4, 15560806: 15560806
7 CC2D2A NM_001080522.2(CC2D2A): c.2848C> T (p.Arg950Ter) single nucleotide variant Pathogenic rs118204053 GRCh38 Chromosome 4, 15559183: 15559183
8 CC2D2A CC2D2A, 1-BP DEL, 3289G deletion Pathogenic
9 CC2D2A NM_001080522.2(CC2D2A): c.3145C> T (p.Arg1049Ter) single nucleotide variant Pathogenic/Likely pathogenic rs386833750 GRCh37 Chromosome 4, 15565108: 15565108
10 CC2D2A NM_001080522.2(CC2D2A): c.3145C> T (p.Arg1049Ter) single nucleotide variant Pathogenic/Likely pathogenic rs386833750 GRCh38 Chromosome 4, 15563485: 15563485
11 CC2D2A NM_001080522.2(CC2D2A): c.3347C> T (p.Thr1116Met) single nucleotide variant Conflicting interpretations of pathogenicity rs267606709 GRCh37 Chromosome 4, 15569358: 15569358
12 CC2D2A NM_001080522.2(CC2D2A): c.3347C> T (p.Thr1116Met) single nucleotide variant Conflicting interpretations of pathogenicity rs267606709 GRCh38 Chromosome 4, 15567735: 15567735
13 CC2D2A NM_001080522.2(CC2D2A): c.3289delG (p.Val1097Phefs) deletion Pathogenic rs386833751 GRCh37 Chromosome 4, 15569300: 15569300
14 CC2D2A NM_001080522.2(CC2D2A): c.3289delG (p.Val1097Phefs) deletion Pathogenic rs386833751 GRCh38 Chromosome 4, 15567677: 15567677
15 CC2D2A NM_001080522.2(CC2D2A): c.3341C> T (p.Thr1114Met) single nucleotide variant Pathogenic rs386833752 GRCh37 Chromosome 4, 15569352: 15569352
16 CC2D2A NM_001080522.2(CC2D2A): c.3341C> T (p.Thr1114Met) single nucleotide variant Pathogenic rs386833752 GRCh38 Chromosome 4, 15567729: 15567729
17 CC2D2A NM_001080522.2(CC2D2A): c.3774dupT (p.Glu1259Terfs) duplication Pathogenic rs386833757 GRCh37 Chromosome 4, 15581593: 15581593
18 CC2D2A NM_001080522.2(CC2D2A): c.3774dupT (p.Glu1259Terfs) duplication Pathogenic rs386833757 GRCh38 Chromosome 4, 15579970: 15579970
19 CC2D2A NM_001080522.2(CC2D2A): c.4179+1delG (p.Gly1394Valfs) deletion Pathogenic rs386833760 GRCh37 Chromosome 4, 15589553: 15589553
20 CC2D2A NM_001080522.2(CC2D2A): c.4179+1delG (p.Gly1394Valfs) deletion Pathogenic rs386833760 GRCh38 Chromosome 4, 15587930: 15587930
21 CC2D2A NM_001080522.2(CC2D2A): c.834delG (p.Leu279Cysfs) deletion Pathogenic rs386833765 GRCh37 Chromosome 4, 15516446: 15516446
22 CC2D2A NM_001080522.2(CC2D2A): c.834delG (p.Leu279Cysfs) deletion Pathogenic rs386833765 GRCh38 Chromosome 4, 15514823: 15514823
23 CC2D2A NM_001080522.2(CC2D2A): c.2804G> A (p.Arg935Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs187003641 GRCh37 Chromosome 4, 15559105: 15559105
24 CC2D2A NM_001080522.2(CC2D2A): c.2804G> A (p.Arg935Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs187003641 GRCh38 Chromosome 4, 15557482: 15557482
25 CC2D2A NM_001080522.2(CC2D2A): c.1017+1G> A single nucleotide variant Pathogenic rs200407856 GRCh37 Chromosome 4, 15517628: 15517628
26 CC2D2A NM_001080522.2(CC2D2A): c.1017+1G> A single nucleotide variant Pathogenic rs200407856 GRCh38 Chromosome 4, 15516005: 15516005
27 CC2D2A NM_001080522.2(CC2D2A): c.1017dup (p.Glu340Argfs) duplication Pathogenic rs797044636 GRCh37 Chromosome 4, 15517627: 15517627
28 CC2D2A NM_001080522.2(CC2D2A): c.1017dup (p.Glu340Argfs) duplication Pathogenic rs797044636 GRCh38 Chromosome 4, 15516004: 15516004
29 CC2D2A NM_001080522.2(CC2D2A): c.1837G> A (p.Glu613Lys) single nucleotide variant Uncertain significance rs201439617 GRCh37 Chromosome 4, 15539594: 15539594
30 CC2D2A NM_001080522.2(CC2D2A): c.1837G> A (p.Glu613Lys) single nucleotide variant Uncertain significance rs201439617 GRCh38 Chromosome 4, 15537971: 15537971
31 CC2D2A NM_001080522.2(CC2D2A): c.2683C> T (p.Gln895Ter) single nucleotide variant Pathogenic rs764719093 GRCh38 Chromosome 4, 15557361: 15557361
32 CC2D2A NM_001080522.2(CC2D2A): c.2683C> T (p.Gln895Ter) single nucleotide variant Pathogenic rs764719093 GRCh37 Chromosome 4, 15558984: 15558984
33 CC2D2A NM_001080522.2(CC2D2A): c.4465_4468delGACA (p.Asp1489Lysfs) deletion Pathogenic/Likely pathogenic rs797045437 GRCh37 Chromosome 4, 15599057: 15599060
34 CC2D2A NM_001080522.2(CC2D2A): c.4465_4468delGACA (p.Asp1489Lysfs) deletion Pathogenic/Likely pathogenic rs797045437 GRCh38 Chromosome 4, 15597434: 15597437
35 CC2D2A NM_001080522.2(CC2D2A): c.1263_1264insGGCATGTTTTGGCAGCGA (p.Phe421_Ser422insGlyMetPheTrpGlnArg) insertion Pathogenic rs762998472 GRCh37 Chromosome 4, 15529183: 15529184
36 CC2D2A NM_001080522.2(CC2D2A): c.1263_1264insGGCATGTTTTGGCAGCGA (p.Phe421_Ser422insGlyMetPheTrpGlnArg) insertion Pathogenic rs762998472 GRCh38 Chromosome 4, 15527560: 15527561
37 CC2D2A NM_001080522.2(CC2D2A): c.1503_1505delAGA (p.Lys501_Asp502delinsAsn) deletion Pathogenic rs863225177 GRCh37 Chromosome 4, 15534852: 15534854
38 CC2D2A NM_001080522.2(CC2D2A): c.1503_1505delAGA (p.Lys501_Asp502delinsAsn) deletion Pathogenic rs863225177 GRCh38 Chromosome 4, 15533229: 15533231
39 CC2D2A NM_001080522.2(CC2D2A): c.1558C> T (p.Arg520Ter) single nucleotide variant Pathogenic rs781252161 GRCh37 Chromosome 4, 15534907: 15534907
40 CC2D2A NM_001080522.2(CC2D2A): c.1558C> T (p.Arg520Ter) single nucleotide variant Pathogenic rs781252161 GRCh38 Chromosome 4, 15533284: 15533284
41 CC2D2A NM_001080522.2(CC2D2A): c.1676T> C (p.Leu559Pro) single nucleotide variant Pathogenic rs754221308 GRCh37 Chromosome 4, 15538611: 15538611
42 CC2D2A NM_001080522.2(CC2D2A): c.1676T> C (p.Leu559Pro) single nucleotide variant Pathogenic rs754221308 GRCh38 Chromosome 4, 15536988: 15536988
43 CC2D2A NM_001080522.2(CC2D2A): c.2624C> A (p.Ser875Ter) single nucleotide variant Pathogenic rs200904521 GRCh37 Chromosome 4, 15556832: 15556832
44 CC2D2A NM_001080522.2(CC2D2A): c.2624C> A (p.Ser875Ter) single nucleotide variant Pathogenic rs200904521 GRCh38 Chromosome 4, 15555209: 15555209
45 CC2D2A NM_001080522.2(CC2D2A): c.2671G> A (p.Glu891Lys) single nucleotide variant Pathogenic rs863225178 GRCh37 Chromosome 4, 15558972: 15558972
46 CC2D2A NM_001080522.2(CC2D2A): c.2671G> A (p.Glu891Lys) single nucleotide variant Pathogenic rs863225178 GRCh38 Chromosome 4, 15557349: 15557349
47 CC2D2A NM_001080522.2(CC2D2A): c.2999A> T (p.Glu1000Val) single nucleotide variant Pathogenic rs773881370 GRCh37 Chromosome 4, 15562230: 15562230
48 CC2D2A NM_001080522.2(CC2D2A): c.2999A> T (p.Glu1000Val) single nucleotide variant Pathogenic rs773881370 GRCh38 Chromosome 4, 15560607: 15560607
49 CC2D2A NM_001080522.2(CC2D2A): c.3055C> T (p.Arg1019Ter) single nucleotide variant Pathogenic rs370880399 GRCh37 Chromosome 4, 15565018: 15565018
50 CC2D2A NM_001080522.2(CC2D2A): c.3055C> T (p.Arg1019Ter) single nucleotide variant Pathogenic rs370880399 GRCh38 Chromosome 4, 15563395: 15563395

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 CC2D2A CEP41
2 cell projection GO:0042995 8.96 CC2D2A CEP41
3 cilium GO:0005929 8.62 CC2D2A CEP41

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 CC2D2A CEP41
2 cell projection organization GO:0030030 8.96 CC2D2A CEP41
3 ciliary basal body-plasma membrane docking GO:0097711 8.62 CC2D2A CEP41

Sources for Joubert Syndrome 9

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
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37 IUPHAR
38 KEGG
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41 LOVD
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45 MeSH
46 MESH via Orphanet
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50 NCI
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55 NINDS
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
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75 UMLS via Orphanet
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