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

JBTS6 MCID: JBR015 MIFTS: 43	Joubert Syndrome 6 (JBTS6) Categories: Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Joubert Syndrome 6

MalaCards integrated aliases for Joubert Syndrome 6:

Name: Joubert Syndrome 6 ⁵⁷ ¹² ⁷⁴ ²⁹ ¹³ ⁶ ⁴⁴ ¹⁵ ⁷²

Jbts6 ⁵⁷ ¹² ⁷⁴

Joubert Syndrome, Type 6 ⁴⁰

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity (see )

HPO:

³²

joubert syndrome 6:
Inheritance autosomal recessive inheritance heterogeneous

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Respiratory diseases Eye diseases Nephrological diseases Liver diseases Mental diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0111001

OMIM ⁵⁷ 610688 PS213300

MeSH ⁴⁴ C537689 D002526 D005124 more

MedGen ⁴² C1853153

UMLS ⁷² 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, 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, eye and liver, 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 : ⁷⁴ 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
Joubert Syndrome 35

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

(show all 29)

#	Related Disease	Score	Top Affiliating Genes
1	meckel syndrome, type 2	10.1	TMEM67 MKS1
2	meckel syndrome, type 4	10.0	MKS1 CEP290
3	bardet-biedl syndrome 14	10.0	TMEM67 CEP290
4	joubert syndrome with ocular anomalies	10.0	MKS1 AHI1
5	nephronophthisis 19	9.8	TMEM67 NPHP1
6	joubert syndrome 2	9.7	TMEM67 NPHP1
7	joubert syndrome 17	9.7	NPHP1 CEP290
8	nephronophthisis 1	9.7	NPHP1 AHI1
9	coloboma of macula	9.7	TMEM67 CEP290
10	joubert syndrome 3	9.7	NPHP1 AHI1
11	retinal aplasia	9.7	NPHP1 CEP290
12	encephalocele	9.6	TMEM67 MKS1 CEP290
13	nephronophthisis 16	9.6	NPHP1 CEP290
14	pathologic nystagmus	9.6	TMEM67 MKS1 CEP290
15	nephronophthisis 2	9.6	NPHP1 MKS1
16	hydrolethalus syndrome 1	9.5	TMEM67 MKS1 AHI1
17	cystic kidney disease	9.3	TMEM67 NPHP1
18	fundus dystrophy	9.2	NPHP1 CEP290 AHI1
19	bardet-biedl syndrome 13	9.1	TMEM67 MKS1 CEP290 AHI1
20	kidney disease	9.0	TMEM67 NPHP1 CEP290
21	leber congenital amaurosis	8.9	NPHP1 CEP290 AHI1
22	meckel syndrome, type 3	8.9	TMEM67 NPHP1 MKS1 CEP290
23	bardet-biedl syndrome	8.9	TMEM67 NPHP1 MKS1 CEP290
24	nephronophthisis 11	8.8	TMEM67 NPHP1 CEP290 AHI1
25	meckel syndrome, type 6	8.8	TMEM67 NPHP1 MKS1 AHI1
26	senior-loken syndrome 1	8.3	TMEM67 NPHP1 MKS1 CEP290 AHI1
27	meckel syndrome, type 1	8.3	TMEM67 NPHP1 MKS1 CEP290 AHI1
28	nephronophthisis	8.3	TMEM67 NPHP1 MKS1 CEP290 AHI1
29	joubert syndrome 1	8.3	TMEM67 NPHP1 MKS1 CEP290 AHI1

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

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Symptoms & Phenotypes for Joubert Syndrome 6

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	generalized hypotonia ³²	HP:0001290
7	hepatic fibrosis ³²	HP:0001395
8	chorioretinal coloboma ³²	HP:0000567
9	nephronophthisis ³²	HP:0000090
10	oculomotor apraxia ³²	HP:0000657
11	cerebellar vermis hypoplasia ³²	HP:0001320
12	molar tooth sign on mri ³²	HP:0002419
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

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

UMLS symptoms related to Joubert Syndrome 6:

ataxia

MGI Mouse Phenotypes related to Joubert Syndrome 6:

⁴⁶

#	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

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Drugs & Therapeutics for Joubert Syndrome 6

Search Clinical Trials , NIH Clinical Center for Joubert Syndrome 6

Cochrane evidence based reviews: 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, Liver

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Publications for Joubert Syndrome 6

Articles related to Joubert Syndrome 6:

(show all 15)

#	Title	Authors	PMID	Year
1	The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. ³⁸ ⁸ ⁷¹	Baala L...Attie-Bitach T	17160906	2007
2	Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. ⁸ ⁷¹	Dafinger C...Bolz HJ	21633164	2011
3	Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). ⁸ ⁷¹	Otto EA...Hildebrandt F	19508969	2009
4	Molar tooth sign and superior vermian dysplasia: a radiological, clinical, and genetic study. ⁸ ⁷¹	Romano S...de Lonlay P	16541367	2006
5	Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome. ⁷¹	Brancati F...Undiagnosed Disease Network Italy	29891882	2018
6	Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. ⁸	Bachmann-Gagescu R...Doherty D	26092869	2015
7	Exome sequencing can improve diagnosis and alter patient management. ⁷¹	Dixon-Salazar TJ...Gleeson JG	22700954	2012
8	Clinical utility gene card for: Joubert syndrome. ⁷¹	Valente EM...Dallapiccola B	21448235	2011
9	Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). ⁷¹	Doherty D...Glass IA	19574260	2010
10	MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement. ⁷¹	Brancati F...International JSRD Study Group	19058225	2009
11	Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3. ⁷¹	Consugar MB...Harris PC	17377820	2007
12	Joubert Syndrome ⁷¹	Parisi M...Glass I	20301500	2003
13	Retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia (RHYNS): a new syndrome? ⁷¹	Di Rocco M...Borrone C	9375913	1997
14	Further delineation of a syndrome of cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis. ⁷¹	Verloes A...Lambotte C	2929661	1989
15	EXPANDED PHENOTYPE OF TMEM67 GENE MUTATION (CASE REPORT). ³⁸	Tkemaladze T...Davitaia T	28726664	2017

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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	1335.61	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁴ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	2929661 17377820 16541367 (more) 19508969 19058225 21448235 20301500 29891882 17160906 9375913 21633164 19574260
2	MKS1	MKS Transition Zone Complex Subunit 1	Protein Coding	16.93	DISEASES inferred ¹⁵
3	AHI1	Abelson Helper Integration Site 1	Protein Coding	16.19	DISEASES inferred ¹⁵
4	NPHP1	Nephrocystin 1	Protein Coding	15.99	DISEASES inferred ¹⁵
5	CEP290	Centrosomal Protein 290	Protein Coding	15.95	DISEASES inferred ¹⁵

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Variations for Joubert Syndrome 6

ClinVar genetic disease variations for Joubert Syndrome 6:

⁶ (show top 50) (show all 54)

#	Gene	Variation	Type	Significance	SNP ID	GRCh37 Pos	GRCh38 Pos
1	TMEM67	NM_153704.5(TMEM67): c.2315_2322+4delinsG	indel	Pathogenic	rs1554557920	8:94815905-94815917	8:93803677-93803689
2	TMEM67	NM_153704.5(TMEM67): c.1538A> G (p.Tyr513Cys)	single nucleotide variant	Pathogenic	rs137853107	8:94803510-94803510	8:93791282-93791282
3	TMEM67	TMEM67, IVS23+5G-C	single nucleotide variant	Pathogenic
4	TMEM67	NM_153704.5(TMEM67): c.1634G> A (p.Gly545Glu)	single nucleotide variant	Pathogenic	rs267607114	8:94805484-94805484	8:93793256-93793256
5	TMEM67	NM_153704.5(TMEM67): c.1961-2A> C	single nucleotide variant	Pathogenic	rs758948621	8:94809557-94809557	8:93797329-93797329
6	TMEM67	NM_153704.5(TMEM67): c.622A> T (p.Arg208Ter)	single nucleotide variant	Pathogenic	rs137853108	8:94777845-94777845	8:93765617-93765617
7	TMEM67	NM_153704.5(TMEM67): c.2498T> C (p.Ile833Thr)	single nucleotide variant	Pathogenic	rs267607119	8:94821126-94821126	8:93808898-93808898
8	TMEM67	NM_153704.5(TMEM67): c.2556+1G> T	single nucleotide variant	Pathogenic	rs786200867	8:94821185-94821185	8:93808957-93808957
9	TMEM67	NM_153704.5(TMEM67): c.1769T> C (p.Phe590Ser)	single nucleotide variant	Pathogenic	rs267607115	8:94807731-94807731	8:93795503-93795503
10	TMEM67	NM_153704.5(TMEM67): c.2461G> A (p.Gly821Ser)	single nucleotide variant	Pathogenic	rs267607116	8:94821089-94821089	8:93808861-93808861
11	TMEM67	NM_153704.5(TMEM67): c.2461G> C (p.Gly821Arg)	single nucleotide variant	Pathogenic	rs267607116	8:94821089-94821089	8:93808861-93808861
12	TMEM67	NM_153704.5(TMEM67): c.130C> T (p.Gln44Ter)	single nucleotide variant	Pathogenic	rs267607118	8:94767272-94767272	8:93755044-93755044
13	TMEM67	NM_153704.5(TMEM67): c.755T> C (p.Met252Thr)	single nucleotide variant	Pathogenic	rs202149403	8:94792861-94792861	8:93780633-93780633
14	TMEM67	TMEM67, PRO358LEU	undetermined variant	Pathogenic
15	TMEM67	NM_153704.5(TMEM67): c.675G> A (p.Trp225Ter)	single nucleotide variant	Pathogenic	rs386834205	8:94784840-94784840	8:93772612-93772612
16	TMEM67	NM_153704.5(TMEM67): c.300C> A (p.Cys100Ter)	single nucleotide variant	Pathogenic	rs751309268	8:94768082-94768082	8:93755854-93755854
17	TMEM67	NM_153704.5(TMEM67): c.389C> G (p.Pro130Arg)	single nucleotide variant	Pathogenic	rs863225226	8:94770787-94770787	8:93758559-93758559
18	TMEM67	NM_153704.5(TMEM67): c.515G> A (p.Arg172Gln)	single nucleotide variant	Pathogenic	rs750950408	8:94777642-94777642	8:93765414-93765414
19	TMEM67	NM_153704.5(TMEM67): c.730A> G (p.Thr244Ala)	single nucleotide variant	Pathogenic	rs863225229	8:94792836-94792836	8:93780608-93780608
20	TMEM67	NM_153704.5(TMEM67): c.769A> G (p.Met257Val)	single nucleotide variant	Pathogenic	rs863225227	8:94792875-94792875	8:93780647-93780647
21	TMEM67	NM_153704.5(TMEM67): c.978+3A> G	single nucleotide variant	Pathogenic	rs775256658	8:94793213-94793213	8:93780985-93780985
22	TMEM67	NM_153704.5(TMEM67): c.1073C> T (p.Pro358Leu)	single nucleotide variant	Pathogenic	rs863225232	8:94794630-94794630	8:93782402-93782402
23	TMEM67	NM_153704.5(TMEM67): c.1081G> T (p.Glu361Ter)	single nucleotide variant	Pathogenic	rs863225237	8:94794638-94794638	8:93782410-93782410
24	TMEM67	NM_153704.5(TMEM67): c.244C> T (p.Pro82Ser)	single nucleotide variant	Pathogenic	rs762543032	8:94768026-94768026	8:93755798-93755798
25	TMEM67	NM_153704.5(TMEM67): c.1126C> G (p.Gln376Glu)	single nucleotide variant	Pathogenic	rs863225231	8:94794683-94794683	8:93782455-93782455
26	TMEM67	NM_153704.5(TMEM67): c.1351C> T (p.Arg451Ter)	single nucleotide variant	Pathogenic	rs116647652	8:94798513-94798513	8:93786285-93786285
27	TMEM67	NM_153704.5(TMEM67): c.1453C> T (p.Pro485Ser)	single nucleotide variant	Pathogenic	rs863225228	8:94800112-94800112	8:93787884-93787884
28	TMEM67	NM_153704.5(TMEM67): c.1674+3A> G	single nucleotide variant	Pathogenic	rs863225224	8:94805527-94805527	8:93793299-93793299
29	TMEM67	NM_153704.5(TMEM67): c.1911C> A (p.Phe637Leu)	single nucleotide variant	Pathogenic	rs863225225	8:94809412-94809412	8:93797184-93797184
30	TMEM67	NM_153704.5(TMEM67): c.2290C> T (p.Arg764Ter)	single nucleotide variant	Pathogenic	rs751517725	8:94815880-94815880	8:93803652-93803652
31	TMEM67	NM_153704.5(TMEM67): c.2368C> A (p.His790Asn)	single nucleotide variant	Pathogenic	rs863225230	8:94817035-94817035	8:93804807-93804807
32	TMEM67	NM_153704.5(TMEM67): c.2522A> C (p.Gln841Pro)	single nucleotide variant	Pathogenic	rs863225234	8:94821150-94821150	8:93808922-93808922
33	TMEM67	NM_153704.5(TMEM67): c.2801G> A (p.Gly934Glu)	single nucleotide variant	Pathogenic	rs863225236	8:94827569-94827569	8:93815341-93815341
34	TMEM67	NM_153704.5(TMEM67): c.2825T> G (p.Phe942Cys)	single nucleotide variant	Pathogenic	rs863225233	8:94827593-94827593	8:93815365-93815365
35	TMEM67	NM_153704.5(TMEM67): c.1321C> T (p.Arg441Cys)	single nucleotide variant	Pathogenic/Likely pathogenic	rs752362727	8:94798483-94798483	8:93786255-93786255
36	TMEM67	NM_153704.5(TMEM67): c.1115C> A (p.Thr372Lys)	single nucleotide variant	Pathogenic/Likely pathogenic	rs863225235	8:94794672-94794672	8:93782444-93782444
37	TMEM67	NM_153704.5(TMEM67): c.579_580del (p.Gly195fs)	deletion	Pathogenic/Likely pathogenic	rs386834202	8:94777802-94777803	8:93765574-93765575
38	TMEM67	NM_153704.5(TMEM67): c.725A> G (p.Asn242Ser)	single nucleotide variant	Pathogenic/Likely pathogenic	rs775883520	8:94792831-94792831	8:93780603-93780603
39	TMEM67	NM_153704.5(TMEM67): c.1046T> C (p.Leu349Ser)	single nucleotide variant	Pathogenic/Likely pathogenic	rs386834180	8:94793953-94793953	8:93781725-93781725
40	TMEM67	NM_153704.5(TMEM67): c.1843T> C (p.Cys615Arg)	single nucleotide variant	Pathogenic/Likely pathogenic	rs201893408	8:94808198-94808198	8:93795970-93795970
41	TMEM67	NM_153704.5(TMEM67): c.651+2T> G	single nucleotide variant	Pathogenic/Likely pathogenic	rs199821258	8:94777876-94777876	8:93765648-93765648
42	TMEM67	NM_153704.5(TMEM67): c.1575+5G> A	single nucleotide variant	Likely pathogenic	rs1554555063	8:94803552-94803552	8:93791324-93791324
43	TMEM67	NM_153704.5(TMEM67): c.2086C> T (p.Leu696Phe)	single nucleotide variant	Likely pathogenic	rs863225238	8:94809684-94809684	8:93797456-93797456
44	TMEM67	NM_153704.5(TMEM67): c.1353del (p.Glu452fs)	deletion	Likely pathogenic	rs749435317	8:94798515-94798515	8:93786287-93786287
45	TMEM67	NM_153704.5(TMEM67): c.2661+5G> A	single nucleotide variant	Likely pathogenic	rs863225239	8:94821394-94821394	8:93809166-93809166
46	TMEM67	NM_153704.5(TMEM67): c.2322+5del	deletion	Likely pathogenic	rs863225240	8:94815917-94815917	8:93803689-93803689
47	TMEM67	NM_153704.5(TMEM67): c.245C> G (p.Pro82Arg)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs772437766	8:94768027-94768027	8:93755799-93755799
48	TMEM67	NM_153704.5(TMEM67): c.2322+2dup	duplication	Conflicting interpretations of pathogenicity	rs386834192	8:94815914-94815914	8:93803686-93803686
49	TMEM67	NM_153704.5(TMEM67): c.297G> T (p.Lys99Asn)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs797046045	8:94768079-94768079	8:93755851-93755851
50	TMEM67	NM_153704.5(TMEM67): c.1421T> C (p.Leu474Pro)	single nucleotide variant	Uncertain significance	rs1554554236	8:94800080-94800080	8:93787852-93787852

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

⁷⁴

#	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

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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

Pathways related to Joubert Syndrome 6 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Regulation of PLK1 Activity at G2/M Transition ⁶⁶ Show member pathways Anchoring of the basal body to the plasma membrane ⁶⁶ AURKA Activation by TPX2 ⁶⁶ Centrosome maturation ⁶⁶ G2/M Transition ⁶⁶ Interaction between PHLDA1 and AURKA ⁶⁶ Loss of Nlp from mitotic centrosomes ⁶⁶ Loss of proteins required for interphase microtubule organization from the centrosome ⁶⁶ Mitotic G2-G2/M phases ⁶⁶ Polo-like kinase mediated events ⁶⁶ Recruitment of mitotic centrosome proteins and complexes ⁶⁶ Recruitment of NuMA to mitotic centrosomes ⁶⁶	12.34	TMEM67 NPHP1 MKS1 CEP290 AHI1
2	Organelle biogenesis and maintenance ⁶⁶ Show member pathways Cilium Assembly ⁶⁶	11.75	TMEM67 NPHP1 MKS1 CEP290 AHI1
3	Ectoderm Differentiation ¹	11.31	MKS1 AHI1

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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	TMEM67 NPHP1 MKS1 CEP290 AHI1
2	centrosome	GO:0005813	9.67	TMEM67 MKS1 CEP290 AHI1
3	cell projection	GO:0042995	9.65	TMEM67 NPHP1 MKS1 CEP290 AHI1
4	centriole	GO:0005814	9.61	MKS1 CEP290 AHI1
5	ciliary basal body	GO:0036064	9.58	MKS1 CEP290 AHI1
6	cell-cell junction	GO:0005911	9.49	NPHP1 AHI1
7	adherens junction	GO:0005912	9.48	NPHP1 AHI1
8	photoreceptor connecting cilium	GO:0032391	9.46	NPHP1 CEP290
9	cilium	GO:0005929	9.35	TMEM67 NPHP1 MKS1 CEP290 AHI1
10	ciliary transition zone	GO:0035869	9.33	TMEM67 MKS1 CEP290
11	MKS complex	GO:0036038	8.92	TMEM67 MKS1 CEP290 AHI1

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	TMEM67 MKS1 CEP290 AHI1
2	cell projection organization	GO:0030030	9.35	TMEM67 NPHP1 MKS1 CEP290 AHI1
3	hindbrain development	GO:0030902	9.26	CEP290 AHI1
4	ciliary basal body-plasma membrane docking	GO:0097711	9.02	TMEM67 NPHP1 MKS1 CEP290 AHI1

Sources

Sources for Joubert Syndrome 6

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ TGDB

⁷¹ Tocris

⁷² UMLS

⁷³ UMLS via Orphanet

⁷⁴ UniProtKB/Swiss-Prot

⁷⁵ Wikipedia

Joubert Syndrome 6 (JBTS6)

Aliases & Classifications for Joubert Syndrome 6

MalaCards integrated aliases for Joubert Syndrome 6:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Joubert Syndrome 6

Related Diseases for Joubert Syndrome 6

Diseases in the Joubert Syndrome 1 family:

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

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

Symptoms & Phenotypes for Joubert Syndrome 6

Human phenotypes related to Joubert Syndrome 6:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

UMLS symptoms related to Joubert Syndrome 6:

MGI Mouse Phenotypes related to Joubert Syndrome 6:

Drugs & Therapeutics for Joubert Syndrome 6

Cochrane evidence based reviews: joubert syndrome 6

Genetic Tests for Joubert Syndrome 6

Genetic tests related to Joubert Syndrome 6:

Anatomical Context for Joubert Syndrome 6

MalaCards organs/tissues related to Joubert Syndrome 6:

Publications for Joubert Syndrome 6

Articles related to Joubert Syndrome 6:

Genes for Joubert Syndrome 6

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

Variations for Joubert Syndrome 6

ClinVar genetic disease variations for Joubert Syndrome 6:

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

Expression for Joubert Syndrome 6

Pathways for Joubert Syndrome 6

Pathways related to Joubert Syndrome 6 according to GeneCards Suite gene sharing:

GO Terms for Joubert Syndrome 6

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

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

Sources for Joubert Syndrome 6