MCID: JBR014
MIFTS: 26

Joubert Syndrome 9

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases, Nephrological diseases

Aliases & Classifications for Joubert Syndrome 9

MalaCards integrated aliases for Joubert Syndrome 9:

Name: Joubert Syndrome 9 57 12 75 29 13 6 73
Jbts9 57 12 75
Joubert Syndrome, Type 9 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
joubert syndrome 9:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Joubert Syndrome 9

UniProtKB/Swiss-Prot : 75 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 astigmatism and rod-cone dystrophy

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
retinitis pigmentosa
astigmatism
nystagmus
cataract

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


Clinical features from OMIM:

612285

Human phenotypes related to Joubert Syndrome 9:

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

Drugs & Therapeutics for Joubert Syndrome 9

Search Clinical Trials , NIH Clinical Center for 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

Variations for Joubert Syndrome 9

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

75 (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
11 CC2D2A p.Asn1520Ser VAR_069045
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 CC2D2A, IVS19DS, G-C, +1 single nucleotide variant Pathogenic
2 CC2D2A NM_001080522.2(CC2D2A): c.3364C> T (p.Pro1122Ser) single nucleotide variant Pathogenic rs118204051 GRCh37 Chromosome 4, 15569375: 15569375
3 CC2D2A NM_001080522.2(CC2D2A): c.3364C> T (p.Pro1122Ser) single nucleotide variant 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.3347C> T (p.Thr1116Met) single nucleotide variant Pathogenic rs267606709 GRCh37 Chromosome 4, 15569358: 15569358
10 CC2D2A NM_001080522.2(CC2D2A): c.3347C> T (p.Thr1116Met) single nucleotide variant Pathogenic rs267606709 GRCh38 Chromosome 4, 15567735: 15567735
11 CC2D2A NM_001080522.2(CC2D2A): c.3289delG (p.Val1097Phefs) deletion Pathogenic rs386833751 GRCh37 Chromosome 4, 15569300: 15569300
12 CC2D2A NM_001080522.2(CC2D2A): c.3289delG (p.Val1097Phefs) deletion Pathogenic rs386833751 GRCh38 Chromosome 4, 15567677: 15567677
13 CC2D2A NM_001080522.2(CC2D2A): c.3341C> T (p.Thr1114Met) single nucleotide variant Pathogenic rs386833752 GRCh37 Chromosome 4, 15569352: 15569352
14 CC2D2A NM_001080522.2(CC2D2A): c.3341C> T (p.Thr1114Met) single nucleotide variant Pathogenic rs386833752 GRCh38 Chromosome 4, 15567729: 15567729
15 CC2D2A NM_001080522.2(CC2D2A): c.3774dupT (p.Glu1259Terfs) duplication Pathogenic rs386833757 GRCh37 Chromosome 4, 15581593: 15581593
16 CC2D2A NM_001080522.2(CC2D2A): c.3774dupT (p.Glu1259Terfs) duplication Pathogenic rs386833757 GRCh38 Chromosome 4, 15579970: 15579970
17 CC2D2A NM_001080522.2(CC2D2A): c.4179+1delG (p.Gly1394Valfs) deletion Pathogenic rs386833760 GRCh37 Chromosome 4, 15589553: 15589553
18 CC2D2A NM_001080522.2(CC2D2A): c.4179+1delG (p.Gly1394Valfs) deletion Pathogenic rs386833760 GRCh38 Chromosome 4, 15587930: 15587930
19 CC2D2A NM_001080522.2(CC2D2A): c.834delG (p.Leu279Cysfs) deletion Pathogenic rs386833765 GRCh37 Chromosome 4, 15516446: 15516446
20 CC2D2A NM_001080522.2(CC2D2A): c.834delG (p.Leu279Cysfs) deletion Pathogenic rs386833765 GRCh38 Chromosome 4, 15514823: 15514823
21 CC2D2A NM_001080522.2(CC2D2A): c.1017+1G> A single nucleotide variant Pathogenic rs200407856 GRCh37 Chromosome 4, 15517628: 15517628
22 CC2D2A NM_001080522.2(CC2D2A): c.1017+1G> A single nucleotide variant Pathogenic rs200407856 GRCh38 Chromosome 4, 15516005: 15516005
23 CC2D2A NM_001080522.2(CC2D2A): c.1017delCinsCC (p.Glu340Argfs) indel Pathogenic rs797044636 GRCh37 Chromosome 4, 15517627: 15517627
24 CC2D2A NM_001080522.2(CC2D2A): c.1017delCinsCC (p.Glu340Argfs) indel Pathogenic rs797044636 GRCh38 Chromosome 4, 15516004: 15516004
25 CC2D2A NM_001080522.2(CC2D2A): c.4093_4095delGAA (p.Glu1367del) deletion Likely pathogenic rs794729225 GRCh37 Chromosome 4, 15589466: 15589468
26 CC2D2A NM_001080522.2(CC2D2A): c.4093_4095delGAA (p.Glu1367del) deletion Likely pathogenic rs794729225 GRCh38 Chromosome 4, 15587843: 15587845
27 CC2D2A NM_001080522.2(CC2D2A): c.4595_4596delCT (p.Leu1533Valfs) deletion no interpretation for the single variant rs794729226 GRCh37 Chromosome 4, 15601250: 15601251
28 CC2D2A NM_001080522.2(CC2D2A): c.4595_4596delCT (p.Leu1533Valfs) deletion no interpretation for the single variant rs794729226 GRCh38 Chromosome 4, 15599627: 15599628
29 CC2D2A NM_001080522.2(CC2D2A): c.2683C> T (p.Gln895Ter) single nucleotide variant Pathogenic rs764719093 GRCh38 Chromosome 4, 15557361: 15557361
30 CC2D2A NM_001080522.2(CC2D2A): c.2683C> T (p.Gln895Ter) single nucleotide variant Pathogenic rs764719093 GRCh37 Chromosome 4, 15558984: 15558984
31 CC2D2A NM_001080522.2(CC2D2A): c.4465_4468delGACA (p.Asp1489Lysfs) deletion Pathogenic rs797045437 GRCh37 Chromosome 4, 15599057: 15599060
32 CC2D2A NM_001080522.2(CC2D2A): c.4465_4468delGACA (p.Asp1489Lysfs) deletion Pathogenic rs797045437 GRCh38 Chromosome 4, 15597434: 15597437
33 CC2D2A NM_001080522.2(CC2D2A): c.1263_1264insGGCATGTTTTGGCAGCGA (p.Phe421_Ser422insGlyMetPheTrpGlnArg) insertion Pathogenic rs762998472 GRCh37 Chromosome 4, 15529183: 15529184
34 CC2D2A NM_001080522.2(CC2D2A): c.1263_1264insGGCATGTTTTGGCAGCGA (p.Phe421_Ser422insGlyMetPheTrpGlnArg) insertion Pathogenic rs762998472 GRCh38 Chromosome 4, 15527560: 15527561
35 CC2D2A NM_001080522.2(CC2D2A): c.1503_1505delAGA (p.Lys501_Asp502delinsAsn) deletion Pathogenic rs863225177 GRCh37 Chromosome 4, 15534852: 15534854
36 CC2D2A NM_001080522.2(CC2D2A): c.1503_1505delAGA (p.Lys501_Asp502delinsAsn) deletion Pathogenic rs863225177 GRCh38 Chromosome 4, 15533229: 15533231
37 CC2D2A NM_001080522.2(CC2D2A): c.1558C> T (p.Arg520Ter) single nucleotide variant Pathogenic rs781252161 GRCh37 Chromosome 4, 15534907: 15534907
38 CC2D2A NM_001080522.2(CC2D2A): c.1558C> T (p.Arg520Ter) single nucleotide variant Pathogenic rs781252161 GRCh38 Chromosome 4, 15533284: 15533284
39 CC2D2A NM_001080522.2(CC2D2A): c.1676T> C (p.Leu559Pro) single nucleotide variant Pathogenic rs754221308 GRCh37 Chromosome 4, 15538611: 15538611
40 CC2D2A NM_001080522.2(CC2D2A): c.1676T> C (p.Leu559Pro) single nucleotide variant Pathogenic rs754221308 GRCh38 Chromosome 4, 15536988: 15536988
41 CC2D2A NM_001080522.2(CC2D2A): c.2624C> A (p.Ser875Ter) single nucleotide variant Pathogenic rs200904521 GRCh37 Chromosome 4, 15556832: 15556832
42 CC2D2A NM_001080522.2(CC2D2A): c.2624C> A (p.Ser875Ter) single nucleotide variant Pathogenic rs200904521 GRCh38 Chromosome 4, 15555209: 15555209
43 CC2D2A NM_001080522.2(CC2D2A): c.2671G> A (p.Glu891Lys) single nucleotide variant Pathogenic rs863225178 GRCh37 Chromosome 4, 15558972: 15558972
44 CC2D2A NM_001080522.2(CC2D2A): c.2671G> A (p.Glu891Lys) single nucleotide variant Pathogenic rs863225178 GRCh38 Chromosome 4, 15557349: 15557349
45 CC2D2A NM_001080522.2(CC2D2A): c.2999A> T (p.Glu1000Val) single nucleotide variant Pathogenic rs773881370 GRCh37 Chromosome 4, 15562230: 15562230
46 CC2D2A NM_001080522.2(CC2D2A): c.2999A> T (p.Glu1000Val) single nucleotide variant Pathogenic rs773881370 GRCh38 Chromosome 4, 15560607: 15560607
47 CC2D2A NM_001080522.2(CC2D2A): c.3055C> T (p.Arg1019Ter) single nucleotide variant Pathogenic rs370880399 GRCh37 Chromosome 4, 15565018: 15565018
48 CC2D2A NM_001080522.2(CC2D2A): c.3055C> T (p.Arg1019Ter) single nucleotide variant Pathogenic rs370880399 GRCh38 Chromosome 4, 15563395: 15563395
49 CC2D2A NM_001080522.2(CC2D2A): c.3134T> C (p.Val1045Ala) single nucleotide variant Pathogenic rs863225173 GRCh37 Chromosome 4, 15565097: 15565097
50 CC2D2A NM_001080522.2(CC2D2A): c.3134T> C (p.Val1045Ala) single nucleotide variant Pathogenic rs863225173 GRCh38 Chromosome 4, 15563474: 15563474

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
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37 KEGG
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42 MedGen
44 MeSH
45 MESH via Orphanet
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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