MCID: JBR025
MIFTS: 21

Joubert Syndrome 17

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

Aliases & Classifications for Joubert Syndrome 17

MalaCards integrated aliases for Joubert Syndrome 17:

Name: Joubert Syndrome 17 57 12 75 29 13 6 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 has symptoms including ataxia An important gene associated with Joubert Syndrome 17 is CPLANE1 (Ciliogenesis And Planar Polarity Effector 1). Affiliated tissues include eye and brain, 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

Symptoms & Phenotypes for Joubert Syndrome 17

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
oculomotor apraxia

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

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

Respiratory:
hyperventilation, episodic
abnormal breathing pattern

Skeletal Feet:
polydactyly (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

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

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 234)
# 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.493delA (p.Ile165Tyrfs) deletion Pathogenic rs606231259 GRCh38 Chromosome 5, 37244452: 37244452
12 CPLANE1 NM_023073.3(CPLANE1): c.493delA (p.Ile165Tyrfs) deletion Pathogenic rs606231259 GRCh37 Chromosome 5, 37244554: 37244554
13 CPLANE1 NM_023073.3(CPLANE1): c.3380C> T (p.Ser1127Leu) single nucleotide variant Likely pathogenic rs375009168 GRCh38 Chromosome 5, 37201718: 37201718
14 CPLANE1 NM_023073.3(CPLANE1): c.3380C> T (p.Ser1127Leu) single nucleotide variant Likely pathogenic rs375009168 GRCh37 Chromosome 5, 37201820: 37201820
15 CPLANE1 NM_023073.3(CPLANE1): c.1125A> G (p.Pro375=) single nucleotide variant Benign/Likely benign rs61745362 GRCh37 Chromosome 5, 37227916: 37227916
16 CPLANE1 NM_023073.3(CPLANE1): c.1125A> G (p.Pro375=) single nucleotide variant Benign/Likely benign rs61745362 GRCh38 Chromosome 5, 37227814: 37227814
17 CPLANE1 NM_023073.3(CPLANE1): c.1737G> A (p.Ala579=) single nucleotide variant Benign/Likely benign rs13356183 GRCh37 Chromosome 5, 37226960: 37226960
18 CPLANE1 NM_023073.3(CPLANE1): c.1737G> A (p.Ala579=) single nucleotide variant Benign/Likely benign rs13356183 GRCh38 Chromosome 5, 37226858: 37226858
19 CPLANE1 NM_023073.3(CPLANE1): c.1809T> C (p.Thr603=) single nucleotide variant Benign/Likely benign rs115435816 GRCh37 Chromosome 5, 37226888: 37226888
20 CPLANE1 NM_023073.3(CPLANE1): c.1809T> C (p.Thr603=) single nucleotide variant Benign/Likely benign rs115435816 GRCh38 Chromosome 5, 37226786: 37226786
21 CPLANE1 NM_023073.3(CPLANE1): c.3240C> T (p.Ala1080=) single nucleotide variant Benign/Likely benign rs28514632 GRCh37 Chromosome 5, 37205466: 37205466
22 CPLANE1 NM_023073.3(CPLANE1): c.3240C> T (p.Ala1080=) single nucleotide variant Benign/Likely benign rs28514632 GRCh38 Chromosome 5, 37205364: 37205364
23 CPLANE1 NM_023073.3(CPLANE1): c.3743G> A (p.Gly1248Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs72736758 GRCh37 Chromosome 5, 37196028: 37196028
24 CPLANE1 NM_023073.3(CPLANE1): c.3743G> A (p.Gly1248Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs72736758 GRCh38 Chromosome 5, 37195926: 37195926
25 CPLANE1 NM_023073.3(CPLANE1): c.378G> A (p.Gly126=) single nucleotide variant Benign/Likely benign rs73750958 GRCh37 Chromosome 5, 37244669: 37244669
26 CPLANE1 NM_023073.3(CPLANE1): c.378G> A (p.Gly126=) single nucleotide variant Benign/Likely benign rs73750958 GRCh38 Chromosome 5, 37244567: 37244567
27 CPLANE1 NM_023073.3(CPLANE1): c.3795T> A (p.Val1265=) single nucleotide variant Benign/Likely benign rs74478954 GRCh37 Chromosome 5, 37195976: 37195976
28 CPLANE1 NM_023073.3(CPLANE1): c.3795T> A (p.Val1265=) single nucleotide variant Benign/Likely benign rs74478954 GRCh38 Chromosome 5, 37195874: 37195874
29 CPLANE1 NM_023073.3(CPLANE1): c.4134T> C (p.Pro1378=) single nucleotide variant Conflicting interpretations of pathogenicity rs79935028 GRCh37 Chromosome 5, 37186443: 37186443
30 CPLANE1 NM_023073.3(CPLANE1): c.4134T> C (p.Pro1378=) single nucleotide variant Conflicting interpretations of pathogenicity rs79935028 GRCh38 Chromosome 5, 37186341: 37186341
31 CPLANE1 NM_023073.3(CPLANE1): c.4310T> C (p.Ile1437Thr) single nucleotide variant Benign/Likely benign rs6859950 GRCh37 Chromosome 5, 37185061: 37185061
32 CPLANE1 NM_023073.3(CPLANE1): c.4310T> C (p.Ile1437Thr) single nucleotide variant Benign/Likely benign rs6859950 GRCh38 Chromosome 5, 37184959: 37184959
33 CPLANE1 NM_023073.3(CPLANE1): c.4698A> G (p.Leu1566=) single nucleotide variant Benign/Likely benign rs143312971 GRCh37 Chromosome 5, 37183585: 37183585
34 CPLANE1 NM_023073.3(CPLANE1): c.4698A> G (p.Leu1566=) single nucleotide variant Benign/Likely benign rs143312971 GRCh38 Chromosome 5, 37183483: 37183483
35 CPLANE1 NM_023073.3(CPLANE1): c.5314A> G (p.Ser1772Gly) single nucleotide variant Benign/Likely benign rs79377186 GRCh37 Chromosome 5, 37182969: 37182969
36 CPLANE1 NM_023073.3(CPLANE1): c.5314A> G (p.Ser1772Gly) single nucleotide variant Benign/Likely benign rs79377186 GRCh38 Chromosome 5, 37182867: 37182867
37 CPLANE1 NM_023073.3(CPLANE1): c.5343A> T (p.Thr1781=) single nucleotide variant Benign/Likely benign rs73750949 GRCh37 Chromosome 5, 37182940: 37182940
38 CPLANE1 NM_023073.3(CPLANE1): c.5343A> T (p.Thr1781=) single nucleotide variant Benign/Likely benign rs73750949 GRCh38 Chromosome 5, 37182838: 37182838
39 CPLANE1 NM_023073.3(CPLANE1): c.5381C> T (p.Pro1794Leu) single nucleotide variant Benign/Likely benign rs75589774 GRCh37 Chromosome 5, 37182902: 37182902
40 CPLANE1 NM_023073.3(CPLANE1): c.5381C> T (p.Pro1794Leu) single nucleotide variant Benign/Likely benign rs75589774 GRCh38 Chromosome 5, 37182800: 37182800
41 CPLANE1 NM_023073.3(CPLANE1): c.5421G> A (p.Lys1807=) single nucleotide variant Conflicting interpretations of pathogenicity rs149313666 GRCh37 Chromosome 5, 37182862: 37182862
42 CPLANE1 NM_023073.3(CPLANE1): c.5421G> A (p.Lys1807=) single nucleotide variant Conflicting interpretations of pathogenicity rs149313666 GRCh38 Chromosome 5, 37182760: 37182760
43 CPLANE1 NM_023073.3(CPLANE1): c.5512A> G (p.Thr1838Ala) single nucleotide variant Benign/Likely benign rs76245173 GRCh37 Chromosome 5, 37181017: 37181017
44 CPLANE1 NM_023073.3(CPLANE1): c.5512A> G (p.Thr1838Ala) single nucleotide variant Benign/Likely benign rs76245173 GRCh38 Chromosome 5, 37180915: 37180915
45 CPLANE1 NM_023073.3(CPLANE1): c.5900+7G> T single nucleotide variant Benign/Likely benign rs78315844 GRCh37 Chromosome 5, 37177716: 37177716
46 CPLANE1 NM_023073.3(CPLANE1): c.5900+7G> T single nucleotide variant Benign/Likely benign rs78315844 GRCh38 Chromosome 5, 37177614: 37177614
47 CPLANE1 NM_023073.3(CPLANE1): c.5901-3T> C single nucleotide variant Benign/Likely benign rs10805625 GRCh37 Chromosome 5, 37176091: 37176091
48 CPLANE1 NM_023073.3(CPLANE1): c.5901-3T> C single nucleotide variant Benign/Likely benign rs10805625 GRCh38 Chromosome 5, 37175989: 37175989
49 CPLANE1 NM_023073.3(CPLANE1): c.6051T> C (p.Ala2017=) single nucleotide variant Benign/Likely benign rs61746147 GRCh37 Chromosome 5, 37173977: 37173977
50 CPLANE1 NM_023073.3(CPLANE1): c.6051T> C (p.Ala2017=) single nucleotide variant Benign/Likely benign rs61746147 GRCh38 Chromosome 5, 37173875: 37173875

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

Sources for Joubert Syndrome 17

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