JBTS9
MCID: JBR014
MIFTS: 27

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. 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

Publications for Joubert Syndrome 9

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 90)
# Gene Variation Type Significance SNP ID Assembly Location
1 CC2D2A NM_001080522.2(CC2D2A): c.1017+1G> A single nucleotide variant Pathogenic rs200407856 GRCh37 Chromosome 4, 15517628: 15517628
2 CC2D2A NM_001080522.2(CC2D2A): c.1017+1G> A single nucleotide variant Pathogenic rs200407856 GRCh38 Chromosome 4, 15516005: 15516005
3 CC2D2A NM_001080522.2(CC2D2A): c.1017dup (p.Glu340Argfs) duplication Pathogenic rs797044636 GRCh37 Chromosome 4, 15517627: 15517627
4 CC2D2A NM_001080522.2(CC2D2A): c.1017dup (p.Glu340Argfs) duplication Pathogenic rs797044636 GRCh38 Chromosome 4, 15516004: 15516004
5 CC2D2A NM_001080522.2(CC2D2A): c.2683C> T (p.Gln895Ter) single nucleotide variant Pathogenic rs764719093 GRCh38 Chromosome 4, 15557361: 15557361
6 CC2D2A NM_001080522.2(CC2D2A): c.2683C> T (p.Gln895Ter) single nucleotide variant Pathogenic rs764719093 GRCh37 Chromosome 4, 15558984: 15558984
7 CC2D2A NM_001080522.2(CC2D2A): c.4465_4468delGACA (p.Asp1489Lysfs) deletion Pathogenic/Likely pathogenic rs797045437 GRCh37 Chromosome 4, 15599057: 15599060
8 CC2D2A NM_001080522.2(CC2D2A): c.4465_4468delGACA (p.Asp1489Lysfs) deletion Pathogenic/Likely pathogenic rs797045437 GRCh38 Chromosome 4, 15597434: 15597437
9 CC2D2A NM_001080522.2(CC2D2A): c.1263_1264insGGCATGTTTTGGCAGCGA (p.Phe421_Ser422insGlyMetPheTrpGlnArg) insertion Pathogenic rs762998472 GRCh37 Chromosome 4, 15529183: 15529184
10 CC2D2A NM_001080522.2(CC2D2A): c.1263_1264insGGCATGTTTTGGCAGCGA (p.Phe421_Ser422insGlyMetPheTrpGlnArg) insertion Pathogenic rs762998472 GRCh38 Chromosome 4, 15527560: 15527561
11 CC2D2A NM_001080522.2(CC2D2A): c.1503_1505delAGA (p.Lys501_Asp502delinsAsn) deletion Pathogenic rs863225177 GRCh37 Chromosome 4, 15534852: 15534854
12 CC2D2A NM_001080522.2(CC2D2A): c.1503_1505delAGA (p.Lys501_Asp502delinsAsn) deletion Pathogenic rs863225177 GRCh38 Chromosome 4, 15533229: 15533231
13 CC2D2A NM_001080522.2(CC2D2A): c.1558C> T (p.Arg520Ter) single nucleotide variant Pathogenic rs781252161 GRCh37 Chromosome 4, 15534907: 15534907
14 CC2D2A NM_001080522.2(CC2D2A): c.1558C> T (p.Arg520Ter) single nucleotide variant Pathogenic rs781252161 GRCh38 Chromosome 4, 15533284: 15533284
15 CC2D2A NM_001080522.2(CC2D2A): c.1676T> C (p.Leu559Pro) single nucleotide variant Pathogenic rs754221308 GRCh37 Chromosome 4, 15538611: 15538611
16 CC2D2A NM_001080522.2(CC2D2A): c.1676T> C (p.Leu559Pro) single nucleotide variant Pathogenic rs754221308 GRCh38 Chromosome 4, 15536988: 15536988
17 CC2D2A NM_001080522.2(CC2D2A): c.2624C> A (p.Ser875Ter) single nucleotide variant Pathogenic rs200904521 GRCh37 Chromosome 4, 15556832: 15556832
18 CC2D2A NM_001080522.2(CC2D2A): c.2624C> A (p.Ser875Ter) single nucleotide variant Pathogenic rs200904521 GRCh38 Chromosome 4, 15555209: 15555209
19 CC2D2A NM_001080522.2(CC2D2A): c.2671G> A (p.Glu891Lys) single nucleotide variant Pathogenic rs863225178 GRCh37 Chromosome 4, 15558972: 15558972
20 CC2D2A NM_001080522.2(CC2D2A): c.2671G> A (p.Glu891Lys) single nucleotide variant Pathogenic rs863225178 GRCh38 Chromosome 4, 15557349: 15557349
21 CC2D2A NM_001080522.2(CC2D2A): c.2999A> T (p.Glu1000Val) single nucleotide variant Pathogenic rs773881370 GRCh37 Chromosome 4, 15562230: 15562230
22 CC2D2A NM_001080522.2(CC2D2A): c.2999A> T (p.Glu1000Val) single nucleotide variant Pathogenic rs773881370 GRCh38 Chromosome 4, 15560607: 15560607
23 CC2D2A NM_001080522.2(CC2D2A): c.3055C> T (p.Arg1019Ter) single nucleotide variant Pathogenic rs370880399 GRCh37 Chromosome 4, 15565018: 15565018
24 CC2D2A NM_001080522.2(CC2D2A): c.3055C> T (p.Arg1019Ter) single nucleotide variant Pathogenic rs370880399 GRCh38 Chromosome 4, 15563395: 15563395
25 CC2D2A NM_001080522.2(CC2D2A): c.3134T> C (p.Val1045Ala) single nucleotide variant Pathogenic rs863225173 GRCh37 Chromosome 4, 15565097: 15565097
26 CC2D2A NM_001080522.2(CC2D2A): c.3134T> C (p.Val1045Ala) single nucleotide variant Pathogenic rs863225173 GRCh38 Chromosome 4, 15563474: 15563474
27 CC2D2A NM_001080522.2(CC2D2A): c.3288G> C (p.Gln1096His) single nucleotide variant Pathogenic rs863225169 GRCh37 Chromosome 4, 15569105: 15569105
28 CC2D2A NM_001080522.2(CC2D2A): c.3288G> C (p.Gln1096His) single nucleotide variant Pathogenic rs863225169 GRCh38 Chromosome 4, 15567482: 15567482
29 CC2D2A NM_001080522.2(CC2D2A): c.3452T> C (p.Val1151Ala) single nucleotide variant Pathogenic rs863225170 GRCh37 Chromosome 4, 15570969: 15570969
30 CC2D2A NM_001080522.2(CC2D2A): c.3452T> C (p.Val1151Ala) single nucleotide variant Pathogenic rs863225170 GRCh38 Chromosome 4, 15569346: 15569346
31 CC2D2A NM_001080522.2(CC2D2A): c.3594+5G> A single nucleotide variant Conflicting interpretations of pathogenicity rs863225181 GRCh38 Chromosome 4, 15570501: 15570501
32 CC2D2A NM_001080522.2(CC2D2A): c.3594+5G> A single nucleotide variant Conflicting interpretations of pathogenicity rs863225181 GRCh37 Chromosome 4, 15572124: 15572124
33 CC2D2A NM_001080522.2(CC2D2A): c.3596T> C (p.Ile1199Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs760918829 GRCh37 Chromosome 4, 15575774: 15575774
34 CC2D2A NM_001080522.2(CC2D2A): c.3596T> C (p.Ile1199Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs760918829 GRCh38 Chromosome 4, 15574151: 15574151
35 CC2D2A NM_001080522.2(CC2D2A): c.3743_3746dupTGGT (p.Pro1250Glyfs) duplication Pathogenic rs863225171 GRCh37 Chromosome 4, 15575921: 15575924
36 CC2D2A NM_001080522.2(CC2D2A): c.3743_3746dupTGGT (p.Pro1250Glyfs) duplication Pathogenic rs863225171 GRCh38 Chromosome 4, 15574298: 15574301
37 CC2D2A NM_001080522.2(CC2D2A): c.3772-1G> T single nucleotide variant Pathogenic rs863225172 GRCh37 Chromosome 4, 15581590: 15581590
38 CC2D2A NM_001080522.2(CC2D2A): c.3772-1G> T single nucleotide variant Pathogenic rs863225172 GRCh38 Chromosome 4, 15579967: 15579967
39 CC2D2A NM_001080522.2(CC2D2A): c.3850C> T (p.Arg1284Cys) single nucleotide variant Pathogenic rs779823379 GRCh38 Chromosome 4, 15580046: 15580046
40 CC2D2A NM_001080522.2(CC2D2A): c.3850C> T (p.Arg1284Cys) single nucleotide variant Pathogenic rs779823379 GRCh37 Chromosome 4, 15581669: 15581669
41 CC2D2A NM_001080522.2(CC2D2A): c.3891_3892delTG (p.Val1298Phefs) deletion Pathogenic rs763735590 GRCh37 Chromosome 4, 15581710: 15581711
42 CC2D2A NM_001080522.2(CC2D2A): c.3891_3892delTG (p.Val1298Phefs) deletion Pathogenic rs763735590 GRCh38 Chromosome 4, 15580087: 15580088
43 CC2D2A NM_001080522.2(CC2D2A): c.3975+4_3975+7delAGTA deletion Pathogenic rs386833759 GRCh37 Chromosome 4, 15581798: 15581801
44 CC2D2A NM_001080522.2(CC2D2A): c.3975+4_3975+7delAGTA deletion Pathogenic rs386833759 GRCh38 Chromosome 4, 15580175: 15580178
45 CC2D2A NM_001080522.2(CC2D2A): c.3976-3C> A single nucleotide variant Likely pathogenic rs576298659 GRCh38 Chromosome 4, 15586154: 15586154
46 CC2D2A NM_001080522.2(CC2D2A): c.3976-3C> A single nucleotide variant Likely pathogenic rs576298659 GRCh37 Chromosome 4, 15587777: 15587777
47 CC2D2A NM_001080522.2(CC2D2A): c.3989G> A (p.Arg1330Gln) single nucleotide variant Pathogenic rs763486732 GRCh37 Chromosome 4, 15587793: 15587793
48 CC2D2A NM_001080522.2(CC2D2A): c.3989G> A (p.Arg1330Gln) single nucleotide variant Pathogenic rs763486732 GRCh38 Chromosome 4, 15586170: 15586170
49 CC2D2A NM_001080522.2(CC2D2A): c.4226T> C (p.Ile1409Thr) single nucleotide variant Pathogenic rs863225176 GRCh38 Chromosome 4, 15589591: 15589591
50 CC2D2A NM_001080522.2(CC2D2A): c.4226T> C (p.Ile1409Thr) single nucleotide variant Pathogenic rs863225176 GRCh37 Chromosome 4, 15591214: 15591214

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
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31 HGMD
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