JBTS17
MCID: JBR025
MIFTS: 33

Joubert Syndrome 17 (JBTS17)

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

Aliases & Classifications for Joubert Syndrome 17

MalaCards integrated aliases for Joubert Syndrome 17:

Name: Joubert Syndrome 17 57 12 75 29 13 6 15 73
Jbts17 57 12 75
Joubert Syndrome, Type 17 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
reported in individuals of french canadian origin


HPO:

32
joubert syndrome 17:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 614615
Disease Ontology 12 DOID:0110986
UMLS 73 C3553264

Summaries for Joubert Syndrome 17

UniProtKB/Swiss-Prot : 75 Joubert syndrome 17: 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 17, also known as jbts17, is related to joubert syndrome 1 and joubert syndrome 6, and has symptoms including ataxia An important gene associated with Joubert Syndrome 17 is CPLANE1 (Ciliogenesis And Planar Polarity Effector 1). Affiliated tissues include eye, brain and liver, and related phenotypes are ataxia and global developmental delay

Disease Ontology : 12 A Joubert syndrome characterized by episodic hyperpnea, abnormal eye movements, ataxia, and global psychomotor retardation that has material basis in compound heterozygous mutation in the C5ORF42 gene on chromosome 5p13.

Description from OMIM: 614615

Related Diseases for Joubert Syndrome 17

Graphical network of the top 20 diseases related to Joubert Syndrome 17:



Diseases related to Joubert Syndrome 17

Symptoms & Phenotypes for Joubert Syndrome 17

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
ataxia
global developmental delay
cerebellar vermis hypoplasia
brain mri shows molar tooth sign
cerebellar vermis agenesis

Respiratory:
abnormal breathing pattern
hyperventilation, episodic

Skeletal Feet:
polydactyly (in some)

Head And Neck Eyes:
oculomotor apraxia

Skeletal Hands:
polydactyly (in some)
syndactyly (in some)


Clinical features from OMIM:

614615

Human phenotypes related to Joubert Syndrome 17:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 ataxia 32 HP:0001251
2 global developmental delay 32 HP:0001263
3 oculomotor apraxia 32 HP:0000657
4 cerebellar vermis hypoplasia 32 HP:0001320
5 syndactyly 32 occasional (7.5%) HP:0001159
6 hyperventilation 32 HP:0002883
7 polydactyly 32 occasional (7.5%) HP:0010442

UMLS symptoms related to Joubert Syndrome 17:


ataxia

MGI Mouse Phenotypes related to Joubert Syndrome 17:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 8.92 CEP290 CPLANE1 NPHP1 WDPCP

Drugs & Therapeutics for Joubert Syndrome 17

Search Clinical Trials , NIH Clinical Center for Joubert Syndrome 17

Genetic Tests for Joubert Syndrome 17

Genetic tests related to Joubert Syndrome 17:

# Genetic test Affiliating Genes
1 Joubert Syndrome 17 29 CPLANE1

Anatomical Context for Joubert Syndrome 17

MalaCards organs/tissues related to Joubert Syndrome 17:

41
Eye, Brain, Liver

Publications for Joubert Syndrome 17

Variations for Joubert Syndrome 17

UniProtKB/Swiss-Prot genetic disease variations for Joubert Syndrome 17:

75
# Symbol AA change Variation ID SNP ID
1 CPLANE1 p.Arg1336Trp VAR_068165 rs367543061

ClinVar genetic disease variations for Joubert Syndrome 17:

6 (show top 50) (show all 280)
# Gene Variation Type Significance SNP ID Assembly Location
1 CPLANE1 NM_023073.3(CPLANE1): c.4006C> T (p.Arg1336Trp) single nucleotide variant Pathogenic/Likely pathogenic rs367543061 GRCh37 Chromosome 5, 37187590: 37187590
2 CPLANE1 NM_023073.3(CPLANE1): c.4006C> T (p.Arg1336Trp) single nucleotide variant Pathogenic/Likely pathogenic rs367543061 GRCh38 Chromosome 5, 37187488: 37187488
3 CPLANE1 NM_023073.3(CPLANE1): c.7400+1G> A single nucleotide variant Pathogenic rs367543062 GRCh37 Chromosome 5, 37167148: 37167148
4 CPLANE1 NM_023073.3(CPLANE1): c.7400+1G> A single nucleotide variant Pathogenic rs367543062 GRCh38 Chromosome 5, 37167046: 37167046
5 CPLANE1 NM_023073.3(CPLANE1): c.6407delC (p.Pro2136Hisfs) deletion Pathogenic rs367543064 GRCh37 Chromosome 5, 37170198: 37170198
6 CPLANE1 NM_023073.3(CPLANE1): c.6407delC (p.Pro2136Hisfs) deletion Pathogenic rs367543064 GRCh38 Chromosome 5, 37170096: 37170096
7 CPLANE1 NM_023073.3(CPLANE1): c.4804C> T (p.Arg1602Ter) single nucleotide variant Pathogenic rs367543063 GRCh37 Chromosome 5, 37183479: 37183479
8 CPLANE1 NM_023073.3(CPLANE1): c.4804C> T (p.Arg1602Ter) single nucleotide variant Pathogenic rs367543063 GRCh38 Chromosome 5, 37183377: 37183377
9 CPLANE1 NM_023073.3(CPLANE1): c.7477C> T (p.Arg2493Ter) single nucleotide variant Pathogenic rs139675596 GRCh37 Chromosome 5, 37165697: 37165697
10 CPLANE1 NM_023073.3(CPLANE1): c.7477C> T (p.Arg2493Ter) single nucleotide variant Pathogenic rs139675596 GRCh38 Chromosome 5, 37165595: 37165595
11 CPLANE1 NM_023073.3(CPLANE1): c.7957+288G> A single nucleotide variant Uncertain significance rs111294855 GRCh37 Chromosome 5, 37157484: 37157484
12 CPLANE1 NM_023073.3(CPLANE1): c.7957+288G> A single nucleotide variant Uncertain significance rs111294855 GRCh38 Chromosome 5, 37157382: 37157382
13 CPLANE1 NM_023073.3(CPLANE1): c.493delA (p.Ile165Tyrfs) deletion Pathogenic rs606231259 GRCh38 Chromosome 5, 37244452: 37244452
14 CPLANE1 NM_023073.3(CPLANE1): c.493delA (p.Ile165Tyrfs) deletion Pathogenic rs606231259 GRCh37 Chromosome 5, 37244554: 37244554
15 CPLANE1 NM_023073.3(CPLANE1): c.3380C> T (p.Ser1127Leu) single nucleotide variant Likely pathogenic rs375009168 GRCh38 Chromosome 5, 37201718: 37201718
16 CPLANE1 NM_023073.3(CPLANE1): c.3380C> T (p.Ser1127Leu) single nucleotide variant Likely pathogenic rs375009168 GRCh37 Chromosome 5, 37201820: 37201820
17 CPLANE1 NM_023073.3(CPLANE1): c.1125A> G (p.Pro375=) single nucleotide variant Benign/Likely benign rs61745362 GRCh37 Chromosome 5, 37227916: 37227916
18 CPLANE1 NM_023073.3(CPLANE1): c.1125A> G (p.Pro375=) single nucleotide variant Benign/Likely benign rs61745362 GRCh38 Chromosome 5, 37227814: 37227814
19 CPLANE1 NM_023073.3(CPLANE1): c.1737G> A (p.Ala579=) single nucleotide variant Benign/Likely benign rs13356183 GRCh37 Chromosome 5, 37226960: 37226960
20 CPLANE1 NM_023073.3(CPLANE1): c.1737G> A (p.Ala579=) single nucleotide variant Benign/Likely benign rs13356183 GRCh38 Chromosome 5, 37226858: 37226858
21 CPLANE1 NM_023073.3(CPLANE1): c.1809T> C (p.Thr603=) single nucleotide variant Benign/Likely benign rs115435816 GRCh37 Chromosome 5, 37226888: 37226888
22 CPLANE1 NM_023073.3(CPLANE1): c.1809T> C (p.Thr603=) single nucleotide variant Benign/Likely benign rs115435816 GRCh38 Chromosome 5, 37226786: 37226786
23 CPLANE1 NM_023073.3(CPLANE1): c.3240C> T (p.Ala1080=) single nucleotide variant Benign/Likely benign rs28514632 GRCh37 Chromosome 5, 37205466: 37205466
24 CPLANE1 NM_023073.3(CPLANE1): c.3240C> T (p.Ala1080=) single nucleotide variant Benign/Likely benign rs28514632 GRCh38 Chromosome 5, 37205364: 37205364
25 CPLANE1 NM_023073.3(CPLANE1): c.3743G> A (p.Gly1248Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs72736758 GRCh37 Chromosome 5, 37196028: 37196028
26 CPLANE1 NM_023073.3(CPLANE1): c.3743G> A (p.Gly1248Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs72736758 GRCh38 Chromosome 5, 37195926: 37195926
27 CPLANE1 NM_023073.3(CPLANE1): c.378G> A (p.Gly126=) single nucleotide variant Benign/Likely benign rs73750958 GRCh37 Chromosome 5, 37244669: 37244669
28 CPLANE1 NM_023073.3(CPLANE1): c.378G> A (p.Gly126=) single nucleotide variant Benign/Likely benign rs73750958 GRCh38 Chromosome 5, 37244567: 37244567
29 CPLANE1 NM_023073.3(CPLANE1): c.3795T> A (p.Val1265=) single nucleotide variant Benign/Likely benign rs74478954 GRCh37 Chromosome 5, 37195976: 37195976
30 CPLANE1 NM_023073.3(CPLANE1): c.3795T> A (p.Val1265=) single nucleotide variant Benign/Likely benign rs74478954 GRCh38 Chromosome 5, 37195874: 37195874
31 CPLANE1 NM_023073.3(CPLANE1): c.4134T> C (p.Pro1378=) single nucleotide variant Conflicting interpretations of pathogenicity rs79935028 GRCh37 Chromosome 5, 37186443: 37186443
32 CPLANE1 NM_023073.3(CPLANE1): c.4134T> C (p.Pro1378=) single nucleotide variant Conflicting interpretations of pathogenicity rs79935028 GRCh38 Chromosome 5, 37186341: 37186341
33 CPLANE1 NM_023073.3(CPLANE1): c.4310T> C (p.Ile1437Thr) single nucleotide variant Benign/Likely benign rs6859950 GRCh37 Chromosome 5, 37185061: 37185061
34 CPLANE1 NM_023073.3(CPLANE1): c.4310T> C (p.Ile1437Thr) single nucleotide variant Benign/Likely benign rs6859950 GRCh38 Chromosome 5, 37184959: 37184959
35 CPLANE1 NM_023073.3(CPLANE1): c.4698A> G (p.Leu1566=) single nucleotide variant Benign/Likely benign rs143312971 GRCh37 Chromosome 5, 37183585: 37183585
36 CPLANE1 NM_023073.3(CPLANE1): c.4698A> G (p.Leu1566=) single nucleotide variant Benign/Likely benign rs143312971 GRCh38 Chromosome 5, 37183483: 37183483
37 CPLANE1 NM_023073.3(CPLANE1): c.5314A> G (p.Ser1772Gly) single nucleotide variant Benign/Likely benign rs79377186 GRCh37 Chromosome 5, 37182969: 37182969
38 CPLANE1 NM_023073.3(CPLANE1): c.5314A> G (p.Ser1772Gly) single nucleotide variant Benign/Likely benign rs79377186 GRCh38 Chromosome 5, 37182867: 37182867
39 CPLANE1 NM_023073.3(CPLANE1): c.5343A> T (p.Thr1781=) single nucleotide variant Benign/Likely benign rs73750949 GRCh37 Chromosome 5, 37182940: 37182940
40 CPLANE1 NM_023073.3(CPLANE1): c.5343A> T (p.Thr1781=) single nucleotide variant Benign/Likely benign rs73750949 GRCh38 Chromosome 5, 37182838: 37182838
41 CPLANE1 NM_023073.3(CPLANE1): c.5381C> T (p.Pro1794Leu) single nucleotide variant Benign/Likely benign rs75589774 GRCh37 Chromosome 5, 37182902: 37182902
42 CPLANE1 NM_023073.3(CPLANE1): c.5381C> T (p.Pro1794Leu) single nucleotide variant Benign/Likely benign rs75589774 GRCh38 Chromosome 5, 37182800: 37182800
43 CPLANE1 NM_023073.3(CPLANE1): c.5421G> A (p.Lys1807=) single nucleotide variant Conflicting interpretations of pathogenicity rs149313666 GRCh37 Chromosome 5, 37182862: 37182862
44 CPLANE1 NM_023073.3(CPLANE1): c.5421G> A (p.Lys1807=) single nucleotide variant Conflicting interpretations of pathogenicity rs149313666 GRCh38 Chromosome 5, 37182760: 37182760
45 CPLANE1 NM_023073.3(CPLANE1): c.5512A> G (p.Thr1838Ala) single nucleotide variant Benign/Likely benign rs76245173 GRCh37 Chromosome 5, 37181017: 37181017
46 CPLANE1 NM_023073.3(CPLANE1): c.5512A> G (p.Thr1838Ala) single nucleotide variant Benign/Likely benign rs76245173 GRCh38 Chromosome 5, 37180915: 37180915
47 CPLANE1 NM_023073.3(CPLANE1): c.5900+7G> T single nucleotide variant Benign/Likely benign rs78315844 GRCh37 Chromosome 5, 37177716: 37177716
48 CPLANE1 NM_023073.3(CPLANE1): c.5900+7G> T single nucleotide variant Benign/Likely benign rs78315844 GRCh38 Chromosome 5, 37177614: 37177614
49 CPLANE1 NM_023073.3(CPLANE1): c.5901-3T> C single nucleotide variant Benign/Likely benign rs10805625 GRCh37 Chromosome 5, 37176091: 37176091
50 CPLANE1 NM_023073.3(CPLANE1): c.5901-3T> C single nucleotide variant Benign/Likely benign rs10805625 GRCh38 Chromosome 5, 37175989: 37175989

Expression for Joubert Syndrome 17

Search GEO for disease gene expression data for Joubert Syndrome 17.

Pathways for Joubert Syndrome 17

GO Terms for Joubert Syndrome 17

Cellular components related to Joubert Syndrome 17 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 photoreceptor connecting cilium GO:0032391 9.26 CEP290 NPHP1
2 cell projection GO:0042995 9.26 CEP290 CPLANE1 NPHP1 WDPCP
3 ciliary transition zone GO:0035869 9.16 CEP290 CPLANE1
4 cilium GO:0005929 8.92 CEP290 CPLANE1 NPHP1 WDPCP

Biological processes related to Joubert Syndrome 17 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 kidney development GO:0001822 9.37 CPLANE1 WDPCP
2 ciliary basal body-plasma membrane docking GO:0097711 9.32 CEP290 NPHP1
3 roof of mouth development GO:0060021 9.26 CPLANE1 WDPCP
4 embryonic digit morphogenesis GO:0042733 9.16 CPLANE1 WDPCP
5 cilium assembly GO:0060271 9.13 CEP290 CPLANE1 WDPCP
6 cell projection organization GO:0030030 8.92 CEP290 CPLANE1 NPHP1 WDPCP

Sources for Joubert Syndrome 17

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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31 HMDB
32 HPO
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34 ICD10 via Orphanet
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69 SNOMED-CT via HPO
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74 UMLS via Orphanet
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