Joubert Syndrome 6 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: JBR015 MIFTS: 22	Joubert Syndrome 6 Categories: Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases, Nephrological diseases
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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Nephrological diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 610688

Disease Ontology ¹² DOID:0111001

MedGen ⁴² C1853153

MeSH ⁴⁴ D002526 D005124 D052177

SNOMED-CT via HPO ⁶⁹ 258211005 204958008 95695004 more

UMLS ⁷³ C1853153

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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.

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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

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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 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

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Drugs & Therapeutics for Joubert Syndrome 6

Search Clinical Trials , NIH Clinical Center for Joubert Syndrome 6

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Genetic Tests for Joubert Syndrome 6

Genetic tests related to Joubert Syndrome 6:

#	Genetic test	Affiliating Genes
1	Joubert Syndrome 6 ²⁹	TMEM67

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Anatomical Context for Joubert Syndrome 6

MalaCards organs/tissues related to Joubert Syndrome 6:

⁴¹

Kidney, Eye

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Publications for Joubert Syndrome 6

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Genes for Joubert Syndrome 6

Genes related to Joubert Syndrome 6 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	TMEM67	Transmembrane Protein 67	Protein Coding	1354.07	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ Pathogenic/Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	17160906 20301500 19574260 (more) 16541367 19508969 2929661 19058225 21633164 17377820

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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

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Expression for Joubert Syndrome 6

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

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Pathways for Joubert Syndrome 6

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GO Terms for Joubert Syndrome 6

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Sources for Joubert Syndrome 6

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