JBTS6
MCID: JBR015
MIFTS: 38

Joubert Syndrome 6 (JBTS6)

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

Aliases & Classifications for Joubert Syndrome 6

MalaCards integrated aliases for Joubert Syndrome 6:

Name: Joubert Syndrome 6 58 12 76 30 13 6 45 15 74
Jbts6 58 12 76
Joubert Syndrome, Type 6 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity (see )


HPO:

33
joubert syndrome 6:
Inheritance heterogeneous autosomal recessive inheritance


Classifications:



Summaries for Joubert Syndrome 6

OMIM : 58 Joubert syndrome is an autosomal recessive disorder presenting with psychomotor delay, hypotonia, ataxia, oculomotor apraxia, and neonatal breathing abnormalities. Neuroradiologically, Joubert syndrome is characterized by peculiar malformation of the midbrain-hindbrain junction known as the 'molar tooth sign' (MTS) consisting of cerebellar vermis hypoplasia or aplasia, thick and maloriented superior cerebellar peduncles, and abnormally deep interpeduncular fossa (Romano et al., 2006). For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see 213300. (610688)

MalaCards based summary : Joubert Syndrome 6, also known as jbts6, is related to meckel syndrome, type 2 and meckel syndrome, type 4, and has symptoms including ataxia An important gene associated with Joubert Syndrome 6 is TMEM67 (Transmembrane Protein 67), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. Affiliated tissues include kidney and eye, and related phenotypes are intellectual disability and ataxia

Disease Ontology : 12 A Joubert syndrome that has material basis in homozygous or compound heterozygous mutation in the TMEM67 on chromosome 8q22.

UniProtKB/Swiss-Prot : 76 Joubert syndrome 6: 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.

Related Diseases for Joubert Syndrome 6

Diseases in the Joubert Syndrome 1 family:

Joubert Syndrome 10 Joubert Syndrome 2
Joubert Syndrome 3 Joubert Syndrome 4
Joubert Syndrome 5 Joubert Syndrome 6
Joubert Syndrome 7 Joubert Syndrome 9
Joubert Syndrome 8 Joubert Syndrome 13
Joubert Syndrome 14 Joubert Syndrome 15
Joubert Syndrome 16 Joubert Syndrome 17
Joubert Syndrome 18 Joubert Syndrome 20
Joubert Syndrome 21 Joubert Syndrome 22
Joubert Syndrome 23 Joubert Syndrome 24
Joubert Syndrome 25 Joubert Syndrome 26
Joubert Syndrome 27 Joubert Syndrome 28
Joubert Syndrome 30 Joubert Syndrome 32
Joubert Syndrome 31 Joubert Syndrome 33
Joubert Syndrome 35

Diseases related to Joubert Syndrome 6 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 30)
# Related Disease Score Top Affiliating Genes
1 meckel syndrome, type 2 10.0 MKS1 TMEM67
2 meckel syndrome, type 4 10.0 CEP290 MKS1
3 joubert syndrome with ocular anomalies 10.0 AHI1 MKS1
4 bardet-biedl syndrome 14 10.0 CEP290 TMEM67
5 coloboma of macula 9.9 CEP290 TMEM67
6 nephronophthisis 19 9.9 NPHP1 TMEM67
7 joubert syndrome 2 9.8 NPHP1 TMEM67
8 joubert syndrome 17 9.8 CEP290 NPHP1
9 nephronophthisis 1 9.8 AHI1 NPHP1
10 retinal aplasia 9.8 CEP290 NPHP1
11 joubert syndrome 3 9.8 AHI1 NPHP1
12 nephronophthisis 16 9.8 CEP290 NPHP1
13 encephalocele 9.8 CEP290 MKS1 TMEM67
14 nephronophthisis 2 9.8 MKS1 NPHP1
15 pathologic nystagmus 9.8 CEP290 MKS1 TMEM67
16 hydrolethalus syndrome 1 9.7 AHI1 MKS1 TMEM67
17 cystic kidney disease 9.7 NPHP1 TMEM67
18 chronic kidney failure 9.5 MKS1 NPHP1
19 fundus dystrophy 9.5 AHI1 CEP290 NPHP1
20 kidney disease 9.4 CEP290 NPHP1 TMEM67
21 bardet-biedl syndrome 13 9.4 AHI1 CEP290 MKS1 TMEM67
22 leber congenital amaurosis 9.4 AHI1 CEP290 NPHP1
23 meckel syndrome, type 3 9.3 CEP290 MKS1 NPHP1 TMEM67
24 bardet-biedl syndrome 9.3 CEP290 MKS1 NPHP1 TMEM67
25 nephronophthisis 11 9.3 AHI1 CEP290 NPHP1 TMEM67
26 meckel syndrome, type 6 9.3 AHI1 MKS1 NPHP1 TMEM67
27 senior-loken syndrome 1 9.0 AHI1 CEP290 MKS1 NPHP1 TMEM67
28 meckel syndrome, type 1 9.0 AHI1 CEP290 MKS1 NPHP1 TMEM67
29 nephronophthisis 9.0 AHI1 CEP290 MKS1 NPHP1 TMEM67
30 joubert syndrome 1 9.0 AHI1 CEP290 MKS1 NPHP1 TMEM67

Graphical network of the top 20 diseases related to Joubert Syndrome 6:



Diseases related to Joubert Syndrome 6

Symptoms & Phenotypes for Joubert Syndrome 6

Human phenotypes related to Joubert Syndrome 6:

33 (show all 19)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 HP:0001249
2 ataxia 33 HP:0001251
3 muscular hypotonia 33 HP:0001252
4 global developmental delay 33 HP:0001263
5 blindness 33 HP:0000618
6 hepatic fibrosis 33 HP:0001395
7 chorioretinal coloboma 33 HP:0000567
8 nephronophthisis 33 HP:0000090
9 generalized hypotonia 33 HP:0001290
10 oculomotor apraxia 33 HP:0000657
11 cerebellar vermis hypoplasia 33 HP:0001320
12 molar tooth sign on mri 33 HP:0002419
13 stage 5 chronic kidney disease 33 HP:0003774
14 retinal degeneration 33 HP:0000546
15 breathing dysregulation 33 HP:0005957
16 elongated superior cerebellar peduncle 33 HP:0011933
17 bile duct proliferation 33 HP:0001408
18 enlarged fossa interpeduncularis 33 HP:0100951
19 thickened superior cerebellar peduncle 33 HP:0002404

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
ataxia
cerebellar vermis hypoplasia
molar tooth sign on mri
developmental delay
hypotonia
more
Abdomen Liver:
hepatic fibrosis
bile duct proliferation

Respiratory:
breathing dysregulation

Head And Neck Eyes:
blindness
chorioretinal coloboma
oculomotor apraxia
retinal degeneration
abnormal eye movements

Genitourinary Kidneys:
nephronophthisis
end-stage renal failure
microcysts

Clinical features from OMIM:

610688

UMLS symptoms related to Joubert Syndrome 6:


ataxia

MGI Mouse Phenotypes related to Joubert Syndrome 6:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.65 AHI1 CEP290 MKS1 NPHP1 TMEM67
2 nervous system MP:0003631 9.55 AHI1 CEP290 MKS1 NPHP1 TMEM67
3 renal/urinary system MP:0005367 9.35 AHI1 CEP290 MKS1 NPHP1 TMEM67
4 vision/eye MP:0005391 8.92 AHI1 CEP290 MKS1 NPHP1

Drugs & Therapeutics for Joubert Syndrome 6

Search Clinical Trials , NIH Clinical Center for Joubert Syndrome 6

Cochrane evidence based reviews: joubert syndrome 6

Genetic Tests for Joubert Syndrome 6

Genetic tests related to Joubert Syndrome 6:

# Genetic test Affiliating Genes
1 Joubert Syndrome 6 30 TMEM67

Anatomical Context for Joubert Syndrome 6

MalaCards organs/tissues related to Joubert Syndrome 6:

42
Kidney, Eye

Publications for Joubert Syndrome 6

Variations for Joubert Syndrome 6

UniProtKB/Swiss-Prot genetic disease variations for Joubert Syndrome 6:

76
# Symbol AA change Variation ID SNP ID
1 TMEM67 p.Tyr513Cys VAR_031987 rs137853107
2 TMEM67 p.Gly545Glu VAR_031988 rs267607114
3 TMEM67 p.Met252Thr VAR_062313 rs202149403
4 TMEM67 p.Pro358Leu VAR_063791 rs863225232
5 TMEM67 p.Ile833Thr VAR_063801 rs267607119
6 TMEM67 p.Asp711Ala VAR_075699 rs781383498

ClinVar genetic disease variations for Joubert Syndrome 6:

6 (show top 50) (show all 104)
# Gene Variation Type Significance SNP ID Assembly Location
1 TMEM67 NM_153704.5(TMEM67): c.297G> T (p.Lys99Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs797046045 GRCh37 Chromosome 8, 94768079: 94768079
2 TMEM67 NM_153704.5(TMEM67): c.297G> T (p.Lys99Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs797046045 GRCh38 Chromosome 8, 93755851: 93755851
3 TMEM67 NM_153704.5(TMEM67): c.725A> G (p.Asn242Ser) single nucleotide variant Pathogenic/Likely pathogenic rs775883520 GRCh37 Chromosome 8, 94792831: 94792831
4 TMEM67 NM_153704.5(TMEM67): c.725A> G (p.Asn242Ser) single nucleotide variant Pathogenic/Likely pathogenic rs775883520 GRCh38 Chromosome 8, 93780603: 93780603
5 TMEM67 NM_153704.5(TMEM67): c.244C> T (p.Pro82Ser) single nucleotide variant Pathogenic rs762543032 GRCh38 Chromosome 8, 93755798: 93755798
6 TMEM67 NM_153704.5(TMEM67): c.244C> T (p.Pro82Ser) single nucleotide variant Pathogenic rs762543032 GRCh37 Chromosome 8, 94768026: 94768026
7 TMEM67 NM_153704.5(TMEM67): c.245C> G (p.Pro82Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs772437766 GRCh38 Chromosome 8, 93755799: 93755799
8 TMEM67 NM_153704.5(TMEM67): c.245C> G (p.Pro82Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs772437766 GRCh37 Chromosome 8, 94768027: 94768027
9 TMEM67 NM_153704.5(TMEM67): c.300C> A (p.Cys100Ter) single nucleotide variant Pathogenic rs751309268 GRCh38 Chromosome 8, 93755854: 93755854
10 TMEM67 NM_153704.5(TMEM67): c.300C> A (p.Cys100Ter) single nucleotide variant Pathogenic rs751309268 GRCh37 Chromosome 8, 94768082: 94768082
11 TMEM67 NM_153704.5(TMEM67): c.389C> G (p.Pro130Arg) single nucleotide variant Pathogenic rs863225226 GRCh38 Chromosome 8, 93758559: 93758559
12 TMEM67 NM_153704.5(TMEM67): c.389C> G (p.Pro130Arg) single nucleotide variant Pathogenic rs863225226 GRCh37 Chromosome 8, 94770787: 94770787
13 TMEM67 NM_153704.5(TMEM67): c.515G> A (p.Arg172Gln) single nucleotide variant Pathogenic rs750950408 GRCh38 Chromosome 8, 93765414: 93765414
14 TMEM67 NM_153704.5(TMEM67): c.515G> A (p.Arg172Gln) single nucleotide variant Pathogenic rs750950408 GRCh37 Chromosome 8, 94777642: 94777642
15 TMEM67 NM_153704.5(TMEM67): c.730A> G (p.Thr244Ala) single nucleotide variant Pathogenic rs863225229 GRCh38 Chromosome 8, 93780608: 93780608
16 TMEM67 NM_153704.5(TMEM67): c.730A> G (p.Thr244Ala) single nucleotide variant Pathogenic rs863225229 GRCh37 Chromosome 8, 94792836: 94792836
17 TMEM67 NM_153704.5(TMEM67): c.769A> G (p.Met257Val) single nucleotide variant Pathogenic rs863225227 GRCh38 Chromosome 8, 93780647: 93780647
18 TMEM67 NM_153704.5(TMEM67): c.769A> G (p.Met257Val) single nucleotide variant Pathogenic rs863225227 GRCh37 Chromosome 8, 94792875: 94792875
19 TMEM67 NM_153704.5(TMEM67): c.978+3A> G single nucleotide variant Pathogenic rs775256658 GRCh38 Chromosome 8, 93780985: 93780985
20 TMEM67 NM_153704.5(TMEM67): c.978+3A> G single nucleotide variant Pathogenic rs775256658 GRCh37 Chromosome 8, 94793213: 94793213
21 TMEM67 NM_153704.5(TMEM67): c.1073C> T (p.Pro358Leu) single nucleotide variant Pathogenic rs863225232 GRCh38 Chromosome 8, 93782402: 93782402
22 TMEM67 NM_153704.5(TMEM67): c.1073C> T (p.Pro358Leu) single nucleotide variant Pathogenic rs863225232 GRCh37 Chromosome 8, 94794630: 94794630
23 TMEM67 NM_153704.5(TMEM67): c.1081G> T (p.Glu361Ter) single nucleotide variant Pathogenic rs863225237 GRCh38 Chromosome 8, 93782410: 93782410
24 TMEM67 NM_153704.5(TMEM67): c.1081G> T (p.Glu361Ter) single nucleotide variant Pathogenic rs863225237 GRCh37 Chromosome 8, 94794638: 94794638
25 TMEM67 NM_153704.5(TMEM67): c.1115C> A (p.Thr372Lys) single nucleotide variant Pathogenic/Likely pathogenic rs863225235 GRCh38 Chromosome 8, 93782444: 93782444
26 TMEM67 NM_153704.5(TMEM67): c.1115C> A (p.Thr372Lys) single nucleotide variant Pathogenic/Likely pathogenic rs863225235 GRCh37 Chromosome 8, 94794672: 94794672
27 TMEM67 NM_153704.5(TMEM67): c.1126C> G (p.Gln376Glu) single nucleotide variant Pathogenic rs863225231 GRCh38 Chromosome 8, 93782455: 93782455
28 TMEM67 NM_153704.5(TMEM67): c.1126C> G (p.Gln376Glu) single nucleotide variant Pathogenic rs863225231 GRCh37 Chromosome 8, 94794683: 94794683
29 TMEM67 NM_153704.5(TMEM67): c.1321C> T (p.Arg441Cys) single nucleotide variant Pathogenic/Likely pathogenic rs752362727 GRCh38 Chromosome 8, 93786255: 93786255
30 TMEM67 NM_153704.5(TMEM67): c.1321C> T (p.Arg441Cys) single nucleotide variant Pathogenic/Likely pathogenic rs752362727 GRCh37 Chromosome 8, 94798483: 94798483
31 TMEM67 NM_153704.5(TMEM67): c.1351C> T (p.Arg451Ter) single nucleotide variant Pathogenic rs116647652 GRCh38 Chromosome 8, 93786285: 93786285
32 TMEM67 NM_153704.5(TMEM67): c.1351C> T (p.Arg451Ter) single nucleotide variant Pathogenic rs116647652 GRCh37 Chromosome 8, 94798513: 94798513
33 TMEM67 NM_153704.5(TMEM67): c.1453C> T (p.Pro485Ser) single nucleotide variant Pathogenic rs863225228 GRCh38 Chromosome 8, 93787884: 93787884
34 TMEM67 NM_153704.5(TMEM67): c.1453C> T (p.Pro485Ser) single nucleotide variant Pathogenic rs863225228 GRCh37 Chromosome 8, 94800112: 94800112
35 TMEM67 NM_153704.5(TMEM67): c.1674+3A> G single nucleotide variant Pathogenic rs863225224 GRCh38 Chromosome 8, 93793299: 93793299
36 TMEM67 NM_153704.5(TMEM67): c.1674+3A> G single nucleotide variant Pathogenic rs863225224 GRCh37 Chromosome 8, 94805527: 94805527
37 TMEM67 NM_153704.5(TMEM67): c.1911C> A (p.Phe637Leu) single nucleotide variant Pathogenic rs863225225 GRCh37 Chromosome 8, 94809412: 94809412
38 TMEM67 NM_153704.5(TMEM67): c.1911C> A (p.Phe637Leu) single nucleotide variant Pathogenic rs863225225 GRCh38 Chromosome 8, 93797184: 93797184
39 TMEM67 NM_153704.5(TMEM67): c.2086C> T (p.Leu696Phe) single nucleotide variant Likely pathogenic rs863225238 GRCh38 Chromosome 8, 93797456: 93797456
40 TMEM67 NM_153704.5(TMEM67): c.2086C> T (p.Leu696Phe) single nucleotide variant Likely pathogenic rs863225238 GRCh37 Chromosome 8, 94809684: 94809684
41 TMEM67 NM_153704.5(TMEM67): c.2290C> T (p.Arg764Ter) single nucleotide variant Pathogenic rs751517725 GRCh38 Chromosome 8, 93803652: 93803652
42 TMEM67 NM_153704.5(TMEM67): c.2290C> T (p.Arg764Ter) single nucleotide variant Pathogenic rs751517725 GRCh37 Chromosome 8, 94815880: 94815880
43 TMEM67 NM_153704.5(TMEM67): c.2322+5delG deletion Likely pathogenic rs863225240 GRCh38 Chromosome 8, 93803689: 93803689
44 TMEM67 NM_153704.5(TMEM67): c.2322+5delG deletion Likely pathogenic rs863225240 GRCh37 Chromosome 8, 94815917: 94815917
45 TMEM67 NM_153704.5(TMEM67): c.2368C> A (p.His790Asn) single nucleotide variant Pathogenic rs863225230 GRCh37 Chromosome 8, 94817035: 94817035
46 TMEM67 NM_153704.5(TMEM67): c.2368C> A (p.His790Asn) single nucleotide variant Pathogenic rs863225230 GRCh38 Chromosome 8, 93804807: 93804807
47 TMEM67 NM_153704.5(TMEM67): c.2522A> C (p.Gln841Pro) single nucleotide variant Pathogenic rs863225234 GRCh38 Chromosome 8, 93808922: 93808922
48 TMEM67 NM_153704.5(TMEM67): c.2522A> C (p.Gln841Pro) single nucleotide variant Pathogenic rs863225234 GRCh37 Chromosome 8, 94821150: 94821150
49 TMEM67 NM_153704.5(TMEM67): c.2661+5G> A single nucleotide variant Likely pathogenic rs863225239 GRCh38 Chromosome 8, 93809166: 93809166
50 TMEM67 NM_153704.5(TMEM67): c.2661+5G> A single nucleotide variant Likely pathogenic rs863225239 GRCh37 Chromosome 8, 94821394: 94821394

Expression for Joubert Syndrome 6

Search GEO for disease gene expression data for Joubert Syndrome 6.

Pathways for Joubert Syndrome 6

GO Terms for Joubert Syndrome 6

Cellular components related to Joubert Syndrome 6 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.72 AHI1 CEP290 MKS1 NPHP1 TMEM67
2 centrosome GO:0005813 9.67 AHI1 CEP290 MKS1 TMEM67
3 cell projection GO:0042995 9.65 AHI1 CEP290 MKS1 NPHP1 TMEM67
4 centriole GO:0005814 9.61 AHI1 CEP290 MKS1
5 ciliary basal body GO:0036064 9.58 AHI1 CEP290 MKS1
6 cell-cell junction GO:0005911 9.49 AHI1 NPHP1
7 adherens junction GO:0005912 9.48 AHI1 NPHP1
8 photoreceptor connecting cilium GO:0032391 9.46 CEP290 NPHP1
9 cilium GO:0005929 9.35 AHI1 CEP290 MKS1 NPHP1 TMEM67
10 ciliary transition zone GO:0035869 9.33 CEP290 MKS1 TMEM67
11 MKS complex GO:0036038 8.92 AHI1 CEP290 MKS1 TMEM67

Biological processes related to Joubert Syndrome 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 9.46 AHI1 CEP290 MKS1 TMEM67
2 cell projection organization GO:0030030 9.35 AHI1 CEP290 MKS1 NPHP1 TMEM67
3 hindbrain development GO:0030902 9.26 AHI1 CEP290
4 ciliary basal body-plasma membrane docking GO:0097711 9.02 AHI1 CEP290 MKS1 NPHP1 TMEM67

Sources for Joubert Syndrome 6

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
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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