MCID: JBR015
MIFTS: 22

Joubert Syndrome 6

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

Aliases & Classifications for Joubert Syndrome 6

MalaCards integrated aliases for Joubert Syndrome 6:

Name: Joubert Syndrome 6 57 12 75 29 13 6 73
Jbts6 57 12 75
Joubert Syndrome, Type 6 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity (see )


HPO:

32
joubert syndrome 6:
Inheritance heterogeneous autosomal recessive inheritance


Classifications:



Summaries for Joubert Syndrome 6

OMIM : 57 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, is also known as jbts6, and has symptoms including ataxia An important gene associated with Joubert Syndrome 6 is TMEM67 (Transmembrane Protein 67). 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 : 75 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.

Symptoms & Phenotypes for Joubert Syndrome 6

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Joubert Syndrome 6:

32 (show all 19)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 ataxia 32 HP:0001251
3 muscular hypotonia 32 HP:0001252
4 global developmental delay 32 HP:0001263
5 blindness 32 HP:0000618
6 hepatic fibrosis 32 HP:0001395
7 chorioretinal coloboma 32 HP:0000567
8 nephronophthisis 32 HP:0000090
9 oculomotor apraxia 32 HP:0000657
10 cerebellar vermis hypoplasia 32 HP:0001320
11 molar tooth sign on mri 32 HP:0002419
12 generalized hypotonia 32 HP:0001290
13 stage 5 chronic kidney disease 32 HP:0003774
14 retinal degeneration 32 HP:0000546
15 breathing dysregulation 32 HP:0005957
16 elongated superior cerebellar peduncle 32 HP:0011933
17 bile duct proliferation 32 HP:0001408
18 enlarged fossa interpeduncularis 32 HP:0100951
19 thickened superior cerebellar peduncle 32 HP:0002404

UMLS symptoms related to Joubert Syndrome 6:


ataxia

Drugs & Therapeutics for Joubert Syndrome 6

Search Clinical Trials , NIH Clinical Center for Joubert Syndrome 6

Genetic Tests for Joubert Syndrome 6

Genetic tests related to Joubert Syndrome 6:

# Genetic test Affiliating Genes
1 Joubert Syndrome 6 29 TMEM67

Anatomical Context for Joubert Syndrome 6

MalaCards organs/tissues related to Joubert Syndrome 6:

41
Kidney, Eye

Publications for Joubert Syndrome 6

Variations for Joubert Syndrome 6

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

75
# 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 102)
# Gene Variation Type Significance SNP ID Assembly Location
1 TMEM67 NM_153704.5(TMEM67): c.2315_2322+5del13insGG indel Pathogenic GRCh37 Chromosome 8, 94815905: 94815917
2 TMEM67 NM_153704.5(TMEM67): c.2315_2322+5del13insGG indel Pathogenic GRCh38 Chromosome 8, 93803677: 93803689
3 TMEM67 NM_153704.5(TMEM67): c.1538A> G (p.Tyr513Cys) single nucleotide variant Pathogenic rs137853107 GRCh37 Chromosome 8, 94803510: 94803510
4 TMEM67 NM_153704.5(TMEM67): c.1538A> G (p.Tyr513Cys) single nucleotide variant Pathogenic rs137853107 GRCh38 Chromosome 8, 93791282: 93791282
5 TMEM67 TMEM67, IVS23+5G-C single nucleotide variant Pathogenic
6 TMEM67 NM_153704.5(TMEM67): c.651+2T> G single nucleotide variant Pathogenic/Likely pathogenic rs199821258 GRCh37 Chromosome 8, 94777876: 94777876
7 TMEM67 NM_153704.5(TMEM67): c.651+2T> G single nucleotide variant Pathogenic/Likely pathogenic rs199821258 GRCh38 Chromosome 8, 93765648: 93765648
8 TMEM67 NM_001142301.1(TMEM67): c.1391G> A (p.Gly464Glu) single nucleotide variant Pathogenic rs267607114 GRCh37 Chromosome 8, 94805484: 94805484
9 TMEM67 NM_001142301.1(TMEM67): c.1391G> A (p.Gly464Glu) single nucleotide variant Pathogenic rs267607114 GRCh38 Chromosome 8, 93793256: 93793256
10 TMEM67 NM_153704.5(TMEM67): c.1961-2A> C single nucleotide variant Pathogenic rs758948621 GRCh38 Chromosome 8, 93797329: 93797329
11 TMEM67 NM_153704.5(TMEM67): c.1961-2A> C single nucleotide variant Pathogenic rs758948621 GRCh37 Chromosome 8, 94809557: 94809557
12 TMEM67 NM_153704.5(TMEM67): c.622A> T (p.Arg208Ter) single nucleotide variant Pathogenic rs137853108 GRCh37 Chromosome 8, 94777845: 94777845
13 TMEM67 NM_153704.5(TMEM67): c.130C> T (p.Gln44Ter) single nucleotide variant Pathogenic rs267607118 GRCh37 Chromosome 8, 94767272: 94767272
14 TMEM67 NM_153704.5(TMEM67): c.622A> T (p.Arg208Ter) single nucleotide variant Pathogenic rs137853108 GRCh38 Chromosome 8, 93765617: 93765617
15 TMEM67 NM_153704.5(TMEM67): c.2498T> C (p.Ile833Thr) single nucleotide variant Pathogenic rs267607119 GRCh37 Chromosome 8, 94821126: 94821126
16 TMEM67 NM_153704.5(TMEM67): c.2498T> C (p.Ile833Thr) single nucleotide variant Pathogenic rs267607119 GRCh38 Chromosome 8, 93808898: 93808898
17 TMEM67 NM_153704.5(TMEM67): c.2556+1G> T single nucleotide variant Pathogenic rs786200867 GRCh37 Chromosome 8, 94821185: 94821185
18 TMEM67 NM_153704.5(TMEM67): c.2556+1G> T single nucleotide variant Pathogenic rs786200867 GRCh38 Chromosome 8, 93808957: 93808957
19 TMEM67 NM_153704.5(TMEM67): c.1769T> C (p.Phe590Ser) single nucleotide variant Pathogenic rs267607115 GRCh37 Chromosome 8, 94807731: 94807731
20 TMEM67 NM_153704.5(TMEM67): c.1769T> C (p.Phe590Ser) single nucleotide variant Pathogenic rs267607115 GRCh38 Chromosome 8, 93795503: 93795503
21 TMEM67 NM_001142301.1(TMEM67): c.2218G> A (p.Gly740Ser) single nucleotide variant Pathogenic rs267607116 GRCh37 Chromosome 8, 94821089: 94821089
22 TMEM67 NM_001142301.1(TMEM67): c.2218G> A (p.Gly740Ser) single nucleotide variant Pathogenic rs267607116 GRCh38 Chromosome 8, 93808861: 93808861
23 TMEM67 NM_153704.5(TMEM67): c.130C> T (p.Gln44Ter) single nucleotide variant Pathogenic rs267607118 GRCh38 Chromosome 8, 93755044: 93755044
24 TMEM67 NM_153704.5(TMEM67): c.755T> C (p.Met252Thr) single nucleotide variant Pathogenic rs202149403 GRCh37 Chromosome 8, 94792861: 94792861
25 TMEM67 NM_153704.5(TMEM67): c.1843T> C (p.Cys615Arg) single nucleotide variant Pathogenic/Likely pathogenic rs201893408 GRCh37 Chromosome 8, 94808198: 94808198
26 TMEM67 NM_153704.5(TMEM67): c.1843T> C (p.Cys615Arg) single nucleotide variant Pathogenic/Likely pathogenic rs201893408 GRCh38 Chromosome 8, 93795970: 93795970
27 TMEM67 NM_001142301.1(TMEM67): c.2218G> C (p.Gly740Arg) single nucleotide variant Pathogenic rs267607116 GRCh37 Chromosome 8, 94821089: 94821089
28 TMEM67 NM_001142301.1(TMEM67): c.2218G> C (p.Gly740Arg) single nucleotide variant Pathogenic rs267607116 GRCh38 Chromosome 8, 93808861: 93808861
29 TMEM67 NM_153704.5(TMEM67): c.755T> C (p.Met252Thr) single nucleotide variant Pathogenic rs202149403 GRCh38 Chromosome 8, 93780633: 93780633
30 TMEM67 TMEM67, PRO358LEU undetermined variant Pathogenic
31 TMEM67 NM_153704.5(TMEM67): c.1046T> C (p.Leu349Ser) single nucleotide variant Pathogenic/Likely pathogenic rs386834180 GRCh37 Chromosome 8, 94793953: 94793953
32 TMEM67 NM_153704.5(TMEM67): c.1046T> C (p.Leu349Ser) single nucleotide variant Pathogenic/Likely pathogenic rs386834180 GRCh38 Chromosome 8, 93781725: 93781725
33 TMEM67 NM_153704.5(TMEM67): c.579_580delAG (p.Gly195Ilefs) deletion Pathogenic/Likely pathogenic rs386834202 GRCh37 Chromosome 8, 94777802: 94777803
34 TMEM67 NM_153704.5(TMEM67): c.579_580delAG (p.Gly195Ilefs) deletion Pathogenic/Likely pathogenic rs386834202 GRCh38 Chromosome 8, 93765574: 93765575
35 TMEM67 NM_153704.5(TMEM67): c.675G> A (p.Trp225Ter) single nucleotide variant Pathogenic rs386834205 GRCh37 Chromosome 8, 94784840: 94784840
36 TMEM67 NM_153704.5(TMEM67): c.675G> A (p.Trp225Ter) single nucleotide variant Pathogenic rs386834205 GRCh38 Chromosome 8, 93772612: 93772612
37 TMEM67 NM_153704.5(TMEM67): c.297G> T (p.Lys99Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs797046045 GRCh37 Chromosome 8, 94768079: 94768079
38 TMEM67 NM_153704.5(TMEM67): c.297G> T (p.Lys99Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs797046045 GRCh38 Chromosome 8, 93755851: 93755851
39 TMEM67 NM_153704.5(TMEM67): c.725A> G (p.Asn242Ser) single nucleotide variant Pathogenic/Likely pathogenic rs775883520 GRCh37 Chromosome 8, 94792831: 94792831
40 TMEM67 NM_153704.5(TMEM67): c.725A> G (p.Asn242Ser) single nucleotide variant Pathogenic/Likely pathogenic rs775883520 GRCh38 Chromosome 8, 93780603: 93780603
41 TMEM67 NM_153704.5(TMEM67): c.244C> T (p.Pro82Ser) single nucleotide variant Pathogenic rs762543032 GRCh38 Chromosome 8, 93755798: 93755798
42 TMEM67 NM_153704.5(TMEM67): c.244C> T (p.Pro82Ser) single nucleotide variant Pathogenic rs762543032 GRCh37 Chromosome 8, 94768026: 94768026
43 TMEM67 NM_153704.5(TMEM67): c.245C> G (p.Pro82Arg) single nucleotide variant Pathogenic rs772437766 GRCh38 Chromosome 8, 93755799: 93755799
44 TMEM67 NM_153704.5(TMEM67): c.245C> G (p.Pro82Arg) single nucleotide variant Pathogenic rs772437766 GRCh37 Chromosome 8, 94768027: 94768027
45 TMEM67 NM_153704.5(TMEM67): c.300C> A (p.Cys100Ter) single nucleotide variant Pathogenic rs751309268 GRCh38 Chromosome 8, 93755854: 93755854
46 TMEM67 NM_153704.5(TMEM67): c.300C> A (p.Cys100Ter) single nucleotide variant Pathogenic rs751309268 GRCh37 Chromosome 8, 94768082: 94768082
47 TMEM67 NM_153704.5(TMEM67): c.389C> G (p.Pro130Arg) single nucleotide variant Pathogenic rs863225226 GRCh38 Chromosome 8, 93758559: 93758559
48 TMEM67 NM_153704.5(TMEM67): c.389C> G (p.Pro130Arg) single nucleotide variant Pathogenic rs863225226 GRCh37 Chromosome 8, 94770787: 94770787
49 TMEM67 NM_153704.5(TMEM67): c.515G> A (p.Arg172Gln) single nucleotide variant Pathogenic rs750950408 GRCh38 Chromosome 8, 93765414: 93765414
50 TMEM67 NM_153704.5(TMEM67): c.515G> A (p.Arg172Gln) single nucleotide variant Pathogenic rs750950408 GRCh37 Chromosome 8, 94777642: 94777642

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

Sources for Joubert Syndrome 6

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