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

JBTS6 MCID: JBR015 MIFTS: 45	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 ⁵⁶ ¹² ⁷³ ²⁹ ¹³ ⁶ ⁴³ ¹⁵ ⁷¹

Jbts6 ⁵⁶ ¹² ⁷³

Joubert Syndrome, Type 6 ³⁹

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity (see )

HPO:

³¹

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 ⁵⁶ 610688

OMIM Phenotypic Series ⁵⁶ PS213300

MeSH ⁴³ C537689 D002526 D005124 more

MedGen ⁴¹ C1853153

SNOMED-CT via HPO ⁶⁸ 193662007 20239009 204958008 more

UMLS ⁷¹ C1853153

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Summaries for Joubert Syndrome 6

OMIM : ⁵⁶ 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 ciliopathy and nephronophthisis 1, 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 eye, kidney and liver, and related phenotypes are intellectual disability and global developmental delay

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 : ⁷³ 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	Joubert Syndrome 36

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

(show top 50) (show all 78)

#	Related Disease	Score	Top Affiliating Genes
1	ciliopathy	10.0	TMEM67 RPGRIP1L
2	nephronophthisis 1	10.0	NPHP1 AHI1
3	leber congenital amaurosis 6	9.9	MKS1 CEP290
4	joubert syndrome 15	9.9	RPGRIP1L NPHP1
5	retinal aplasia	9.9	NPHP1 CEP290
6	bardet-biedl syndrome 13	9.9	MKS1 CEP290
7	bardet-biedl syndrome 11	9.9	MKS1 CEP290
8	nephronophthisis 13	9.9	NPHP1 CEP290
9	bardet-biedl syndrome 8	9.9	MKS1 CEP290
10	cerebellar hypoplasia	9.9	TMEM67 RPGRIP1L CC2D2A
11	nephronophthisis 12	9.9	NPHP1 CEP290
12	polycystic kidney disease 2 with or without polycystic liver disease	9.8	TMEM67 MKS1
13	polydactyly	9.8	MKS1 CEP290 CC2D2A
14	renal-hepatic-pancreatic dysplasia	9.8	NPHP1 CEP290
15	oligohydramnios	9.8	TMEM67 MKS1 CC2D2A
16	meckel syndrome, type 7	9.8	TMEM216 CC2D2A
17	bardet-biedl syndrome 3	9.8	MKS1 CEP290
18	physical disorder	9.7	TMEM67 MKS1 CEP290
19	oculomotor apraxia	9.7	NPHP1 AHI1
20	bardet-biedl syndrome 1	9.7	TMEM216 NPHP1
21	bardet-biedl syndrome 6	9.7	RPGRIP1L MKS1 CEP290
22	alstrom syndrome	9.6	RPGRIP1L NPHP1 CEP290
23	asphyxiating thoracic dystrophy	9.6	RPGRIP1L CEP290
24	cogan syndrome	9.6	NPHP1 CEP290 AHI1
25	congenital hepatic fibrosis	9.5	TMEM67 RPGRIP1L CC2D2A AHI1
26	short-rib thoracic dysplasia 6 with or without polydactyly	9.5	TMEM67 TMEM216
27	arima syndrome	9.5	TMEM216 CEP290 CC2D2A
28	encephalocele	9.5	TMEM67 MKS1 CEP290 CC2D2A
29	ellis-van creveld syndrome	9.5	TMEM216 RPGRIP1L CEP290
30	acrocallosal syndrome	9.4	TMEM216 RPGRIP1L AHI1
31	kidney disease	9.4	TMEM67 NPHP1 CEP290 AHI1
32	pathologic nystagmus	9.4	TMEM67 MKS1 CEP290 AHI1
33	retinal degeneration	9.3	TMEM67 RPGRIP1L NPHP1 CEP290
34	meckel syndrome, type 8	9.3	TMEM67 TMEM216 RPGRIP1L CC2D2A
35	joubert syndrome 24	9.3	RPGRIP1L NPHP1 CEP290 AHI1
36	johanson-blizzard syndrome	9.2	TMEM216 RPGRIP1L CEP290 CC2D2A
37	nephronophthisis 19	9.0	TMEM67 RPGRIP1L NPHP1 CEP290 AHI1
38	nephronophthisis 16	9.0	TMEM67 RPGRIP1L NPHP1 MKS1 CEP290
39	nephronophthisis 14	8.8	TMEM67 RPGRIP1L NPHP1 MKS1 CEP290 CC2D2A
40	nephronophthisis 7	8.8	TMEM67 RPGRIP1L NPHP1 MKS1 CEP290 CC2D2A
41	orofaciodigital syndrome	8.7	TMEM67 TMEM216 NPHP1 MKS1 CEP290
42	bardet-biedl syndrome 14	8.6	TMEM67 TMEM216 RPGRIP1L MKS1 CEP290 CC2D2A
43	nephronophthisis 11	8.6	TMEM67 TMEM216 RPGRIP1L NPHP1 CEP290 CC2D2A
44	joubert syndrome 10	8.5	TMEM67 TMEM216 RPGRIP1L NPHP1 CC2D2A AHI1
45	apraxia	8.4	TMEM67 TMEM216 RPGRIP1L NPHP1 CEP290 AHI1
46	cranioectodermal dysplasia 1	8.4	TMEM67 RPGRIP1L NPHP1 MKS1 CEP290 CC2D2A
47	joubert syndrome 13	8.2	TMEM67 TMEM216 RPGRIP1L NPHP1 CEP290 CC2D2A
48	joubert syndrome 8	8.2	TMEM67 TMEM216 RPGRIP1L NPHP1 CEP290 CC2D2A
49	meckel syndrome, type 6	8.2	TMEM67 TMEM216 RPGRIP1L NPHP1 MKS1 CEP290
50	meckel syndrome, type 5	8.2	TMEM67 TMEM216 RPGRIP1L NPHP1 MKS1 CEP290

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:

³¹ (show all 19)

#	Description	HPO Source Accession
1	intellectual disability ³¹	HP:0001249
2	global developmental delay ³¹	HP:0001263
3	muscular hypotonia ³¹	HP:0001252
4	blindness ³¹	HP:0000618
5	ataxia ³¹	HP:0001251
6	hepatic fibrosis ³¹	HP:0001395
7	chorioretinal coloboma ³¹	HP:0000567
8	nephronophthisis ³¹	HP:0000090
9	cerebellar vermis hypoplasia ³¹	HP:0001320
10	molar tooth sign on mri ³¹	HP:0002419
11	oculomotor apraxia ³¹	HP:0000657
12	retinal degeneration ³¹	HP:0000546
13	generalized hypotonia ³¹	HP:0001290
14	stage 5 chronic kidney disease ³¹	HP:0003774
15	breathing dysregulation ³¹	HP:0005957
16	elongated superior cerebellar peduncle ³¹	HP:0011933
17	bile duct proliferation ³¹	HP:0001408
18	enlarged fossa interpeduncularis ³¹	HP:0100951
19	thickened superior cerebellar peduncle ³¹	HP:0002404

Symptoms via clinical synopsis from OMIM:

⁵⁶

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

Abdomen Liver:
hepatic fibrosis
bile duct proliferation

Respiratory:
breathing dysregulation

Neurologic Central Nervous System:
ataxia
cerebellar vermis hypoplasia
molar tooth sign on mri
hypotonia
developmental delay
more

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:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cellular	MP:0005384	9.91	AHI1 CC2D2A CEP290 MKS1 NPHP1 RPGRIP1L
2	craniofacial	MP:0005382	9.72	CC2D2A CEP290 MKS1 RPGRIP1L TMEM67
3	nervous system	MP:0003631	9.7	AHI1 CC2D2A CEP290 MKS1 NPHP1 RPGRIP1L
4	limbs/digits/tail	MP:0005371	9.56	CC2D2A MKS1 RPGRIP1L TMEM67
5	renal/urinary system	MP:0005367	9.5	AHI1 CC2D2A CEP290 MKS1 NPHP1 RPGRIP1L
6	vision/eye	MP:0005391	9.1	AHI1 CC2D2A CEP290 MKS1 NPHP1 RPGRIP1L

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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:

⁴⁰

Eye, Kidney, 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. ⁶¹ ⁵⁶ ⁶	Baala L...Attie-Bitach T	17160906	2007
2	Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. ⁵⁶ ⁶	Dafinger C...Bolz HJ	21633164	2011
3	Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). ⁶ ⁵⁶	Otto EA...Hildebrandt F	19508969	2009
4	Molar tooth sign and superior vermian dysplasia: a radiological, clinical, and genetic study. ⁵⁶ ⁶	Romano S...de Lonlay P	16541367	2006
5	Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome. ⁶	Brancati F...Undiagnosed Disease Network Italy	29891882	2018
6	Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. ⁵⁶	Bachmann-Gagescu R...Doherty D	26092869	2015
7	Exome sequencing can improve diagnosis and alter patient management. ⁶	Dixon-Salazar TJ...Gleeson JG	22700954	2012
8	Clinical utility gene card for: Joubert syndrome. ⁶	Valente EM...Dallapiccola B	21448235	2011
9	Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). ⁶	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. ⁶	Brancati F...International JSRD Study Group	19058225	2009
11	Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3. ⁶	Consugar MB...Harris PC	17377820	2007
12	Joubert Syndrome ⁶	Parisi M...Glass I	20301500	2003
13	Retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia (RHYNS): a new syndrome? ⁶	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. ⁶	Verloes A...Lambotte C	2929661	1989
15	EXPANDED PHENOTYPE OF TMEM67 GENE MUTATION (CASE REPORT). ⁶¹	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	1327.32	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	17377820 2929661 19508969 (more) 17160906 21633164 29891882 20301500 19574260 9375913 16541367 19058225 21448235
2	CC2D2A	Coiled-Coil And C2 Domain Containing 2A	Protein Coding	7.67	DISEASES inferred ¹⁵
3	RPGRIP1L	RPGRIP1 Like	Protein Coding	7.4	DISEASES inferred ¹⁵
4	CEP290	Centrosomal Protein 290	Protein Coding	7.34	DISEASES inferred ¹⁵
5	AHI1	Abelson Helper Integration Site 1	Protein Coding	7.33	DISEASES inferred ¹⁵
6	NPHP1	Nephrocystin 1	Protein Coding	7.14	DISEASES inferred ¹⁵
7	TMEM216	Transmembrane Protein 216	Protein Coding	7.03	DISEASES inferred ¹⁵
8	MKS1	MKS Transition Zone Complex Subunit 1	Protein Coding	6.89	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 117) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	TMEM67	NM_001142301.1(TMEM67):c.2072_2079+4delinsG	indel	Pathogenic	1368	rs1554557920	8:94815905-94815916	8:93803677-93803688
2	TMEM67	NM_153704.6(TMEM67):c.1538A>G (p.Tyr513Cys)	SNV	Pathogenic	1371	rs137853107	8:94803510-94803510	8:93791282-93791282
3	TMEM67	NM_153704.6(TMEM67):c.2439+5G>C	SNV	Pathogenic	1372		8:94817111-94817111	8:93804883-93804883
4	TMEM67	NM_153704.6(TMEM67):c.1634G>A (p.Gly545Glu)	SNV	Pathogenic	1374	rs267607114	8:94805484-94805484	8:93793256-93793256
5	TMEM67	NM_001142301.1(TMEM67):c.1718-2A>C	SNV	Pathogenic	1375	rs758948621	8:94809557-94809557	8:93797329-93797329
6	TMEM67	NM_153704.6(TMEM67):c.622A>T (p.Arg208Ter)	SNV	Pathogenic	1376	rs137853108	8:94777845-94777845	8:93765617-93765617
7	TMEM67	NM_001142301.1(TMEM67):c.2313+1G>T	SNV	Pathogenic	1379	rs786200867	8:94821185-94821185	8:93808957-93808957
8	TMEM67	NM_153704.6(TMEM67):c.1769T>C (p.Phe590Ser)	SNV	Pathogenic	1381	rs267607115	8:94807731-94807731	8:93795503-93795503
9	TMEM67	NM_153704.6(TMEM67):c.2461G>A (p.Gly821Ser)	SNV	Pathogenic	1382	rs267607116	8:94821089-94821089	8:93808861-93808861
10	TMEM67	NM_153704.6(TMEM67):c.2461G>C (p.Gly821Arg)	SNV	Pathogenic	1385	rs267607116	8:94821089-94821089	8:93808861-93808861
11	TMEM67	NM_153704.6(TMEM67):c.130C>T (p.Gln44Ter)	SNV	Pathogenic	1386	rs267607118	8:94767272-94767272	8:93755044-93755044
12	TMEM67	NM_153704.6(TMEM67):c.755T>C (p.Met252Thr)	SNV	Pathogenic	1387	rs202149403	8:94792861-94792861	8:93780633-93780633
13	TMEM67	TMEM67, PRO358LEU	undetermined variant	Pathogenic	30808
14	TMEM67	NM_153704.6(TMEM67):c.675G>A (p.Trp225Ter)	SNV	Pathogenic	56787	rs386834205	8:94784840-94784840	8:93772612-93772612
15	TMEM67	NM_153704.6(TMEM67):c.300C>A (p.Cys100Ter)	SNV	Pathogenic	217712	rs751309268	8:94768082-94768082	8:93755854-93755854
16	TMEM67	NM_153704.6(TMEM67):c.389C>G (p.Pro130Arg)	SNV	Pathogenic	217709	rs863225226	8:94770787-94770787	8:93758559-93758559
17	TMEM67	NM_153704.6(TMEM67):c.515G>A (p.Arg172Gln)	SNV	Pathogenic	217721	rs750950408	8:94777642-94777642	8:93765414-93765414
18	TMEM67	NM_153704.6(TMEM67):c.730A>G (p.Thr244Ala)	SNV	Pathogenic	217716	rs863225229	8:94792836-94792836	8:93780608-93780608
19	TMEM67	NM_153704.6(TMEM67):c.769A>G (p.Met257Val)	SNV	Pathogenic	217710	rs863225227	8:94792875-94792875	8:93780647-93780647
20	TMEM67	NM_001142301.1(TMEM67):c.735+3A>G	SNV	Pathogenic	217711	rs775256658	8:94793213-94793213	8:93780985-93780985
21	TMEM67	NM_153704.6(TMEM67):c.1073C>T (p.Pro358Leu)	SNV	Pathogenic	217720	rs863225232	8:94794630-94794630	8:93782402-93782402
22	TMEM67	NM_153704.6(TMEM67):c.1081G>T (p.Glu361Ter)	SNV	Pathogenic	217728	rs863225237	8:94794638-94794638	8:93782410-93782410
23	TMEM67	NM_153704.6(TMEM67):c.244C>T (p.Pro82Ser)	SNV	Pathogenic	217715	rs762543032	8:94768026-94768026	8:93755798-93755798
24	TMEM67	NM_153704.6(TMEM67):c.1126C>G (p.Gln376Glu)	SNV	Pathogenic	217719	rs863225231	8:94794683-94794683	8:93782455-93782455
25	TMEM67	NM_001142301.1(TMEM67):c.1431+3A>G	SNV	Pathogenic	217707	rs863225224	8:94805527-94805527	8:93793299-93793299
26	TMEM67	NM_153704.6(TMEM67):c.1351C>T (p.Arg451Ter)	SNV	Pathogenic	217724	rs116647652	8:94798513-94798513	8:93786285-93786285
27	TMEM67	NM_153704.6(TMEM67):c.1453C>T (p.Pro485Ser)	SNV	Pathogenic	217713	rs863225228	8:94800112-94800112	8:93787884-93787884
28	TMEM67	NM_153704.6(TMEM67):c.1911C>A (p.Phe637Leu)	SNV	Pathogenic	217708	rs863225225	8:94809412-94809412	8:93797184-93797184
29	TMEM67	NM_153704.6(TMEM67):c.2290C>T (p.Arg764Ter)	SNV	Pathogenic	217717	rs751517725	8:94815880-94815880	8:93803652-93803652
30	TMEM67	NM_153704.6(TMEM67):c.2368C>A (p.His790Asn)	SNV	Pathogenic	217718	rs863225230	8:94817035-94817035	8:93804807-93804807
31	TMEM67	NM_153704.6(TMEM67):c.2522A>C (p.Gln841Pro)	SNV	Pathogenic	217723	rs863225234	8:94821150-94821150	8:93808922-93808922
32	TMEM67	NM_153704.6(TMEM67):c.2801G>A (p.Gly934Glu)	SNV	Pathogenic	217727	rs863225236	8:94827569-94827569	8:93815341-93815341
33	TMEM67	NM_153704.6(TMEM67):c.2825T>G (p.Phe942Cys)	SNV	Pathogenic	217722	rs863225233	8:94827593-94827593	8:93815365-93815365
34	TMEM67	NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys)	SNV	Pathogenic/Likely pathogenic	217725	rs752362727	8:94798483-94798483	8:93786255-93786255
35	TMEM67	NM_153704.6(TMEM67):c.1115C>A (p.Thr372Lys)	SNV	Pathogenic/Likely pathogenic	217726	rs863225235	8:94794672-94794672	8:93782444-93782444
36	TMEM67	NM_153704.6(TMEM67):c.1046T>C (p.Leu349Ser)	SNV	Pathogenic/Likely pathogenic	56762	rs386834180	8:94793953-94793953	8:93781725-93781725
37	TMEM67	NM_153704.6(TMEM67):c.2498T>C (p.Ile833Thr)	SNV	Pathogenic/Likely pathogenic	1378	rs267607119	8:94821126-94821126	8:93808898-93808898
38	TMEM67	NM_153704.6(TMEM67):c.579_580del (p.Gly195fs)	deletion	Pathogenic/Likely pathogenic	56783	rs386834202	8:94777802-94777803	8:93765574-93765575
39	TMEM67	NM_153704.6(TMEM67):c.725A>G (p.Asn242Ser)	SNV	Pathogenic/Likely pathogenic	216826	rs775883520	8:94792831-94792831	8:93780603-93780603
40	TMEM67	NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg)	SNV	Pathogenic/Likely pathogenic	1383	rs201893408	8:94808198-94808198	8:93795970-93795970
41	TMEM67	NM_001142301.1(TMEM67):c.408+2T>G	SNV	Pathogenic/Likely pathogenic	1373	rs199821258	8:94777876-94777876	8:93765648-93765648
42	TMEM67	NM_001142301.1(TMEM67):c.1332+5G>A	SNV	Likely pathogenic	495328	rs1554555063	8:94803552-94803552	8:93791324-93791324
43	TMEM67	NM_153704.6(TMEM67):c.313-3T>G	SNV	Likely pathogenic	692261		8:94770708-94770708	8:93758480-93758480
44	TMEM67	NM_153704.6(TMEM67):c.1353del (p.Glu452fs)	deletion	Likely pathogenic	225493	rs749435317	8:94798515-94798515	8:93786287-93786287
45	TMEM67	NM_001142301.1(TMEM67):c.2418+5G>A	SNV	Likely pathogenic	217730	rs863225239	8:94821394-94821394	8:93809166-93809166
46	TMEM67	NM_001142301.1(TMEM67):c.2079+5del	deletion	Likely pathogenic	217731	rs863225240	8:94815917-94815917	8:93803689-93803689
47	TMEM67	NM_153704.6(TMEM67):c.2241G>A (p.Gln747=)	SNV	Conflicting interpretations of pathogenicity	242363	rs115563233	8:94811986-94811986	8:93799758-93799758
48	TMEM67	NM_153704.6(TMEM67):c.120T>C (p.Ser40=)	SNV	Conflicting interpretations of pathogenicity	262741	rs767999682	8:94767262-94767262	8:93755034-93755034
49	TMEM67	NM_001142301.1(TMEM67):c.626+9A>G	SNV	Conflicting interpretations of pathogenicity	262756	rs372597584	8:94792984-94792984	8:93780756-93780756
50	TMEM67	NM_153704.6(TMEM67):c.2448G>A (p.Leu816=)	SNV	Conflicting interpretations of pathogenicity	262745	rs886038738	8:94821076-94821076	8:93808848-93808848

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

⁷³

#	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

Sources

Expression for Joubert Syndrome 6

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

Sources

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 ⁶⁵ Show member pathways Anchoring of the basal body to the plasma membrane ⁶⁵ AURKA Activation by TPX2 ⁶⁵ Centrosome maturation ⁶⁵ G2/M Transition ⁶⁵ Interaction between PHLDA1 and AURKA ⁶⁵ Loss of Nlp from mitotic centrosomes ⁶⁵ Loss of proteins required for interphase microtubule organization from the centrosome ⁶⁵ Mitotic G2-G2/M phases ⁶⁵ Polo-like kinase mediated events ⁶⁵ Recruitment of mitotic centrosome proteins and complexes ⁶⁵ Recruitment of NuMA to mitotic centrosomes ⁶⁵	12.54	TMEM67 TMEM216 RPGRIP1L NPHP1 MKS1 CEP290
2	Organelle biogenesis and maintenance ⁶⁵ Show member pathways Cilium Assembly ⁶⁵	11.95	TMEM67 TMEM216 RPGRIP1L NPHP1 MKS1 CEP290

Sources

GO Terms for Joubert Syndrome 6

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

(show all 13)

#	Name	GO ID	Score	Top Affiliating Genes
1	cytoplasm	GO:0005737	10.08	TMEM67 TMEM216 RPGRIP1L NPHP1 MKS1 CEP290
2	cytosol	GO:0005829	10.05	TMEM216 RPGRIP1L NPHP1 MKS1 CEP290 CC2D2A
3	cytoskeleton	GO:0005856	9.92	TMEM67 TMEM216 RPGRIP1L NPHP1 MKS1 CEP290
4	cell projection	GO:0042995	9.86	TMEM67 TMEM216 RPGRIP1L NPHP1 MKS1 CEP290
5	centrosome	GO:0005813	9.8	TMEM67 RPGRIP1L MKS1 CEP290 AHI1
6	cilium	GO:0005929	9.76	TMEM67 TMEM216 RPGRIP1L NPHP1 MKS1 CEP290
7	microtubule organizing center	GO:0005815	9.7	RPGRIP1L MKS1 CEP290
8	cell-cell junction	GO:0005911	9.67	RPGRIP1L NPHP1 AHI1
9	ciliary basal body	GO:0036064	9.67	RPGRIP1L MKS1 CEP290 AHI1
10	centriole	GO:0005814	9.63	MKS1 CEP290 AHI1
11	photoreceptor connecting cilium	GO:0032391	9.61	RPGRIP1L NPHP1 CEP290
12	ciliary transition zone	GO:0035869	9.43	TMEM67 TMEM216 RPGRIP1L MKS1 CEP290 CC2D2A
13	MKS complex	GO:0036038	9.1	TMEM67 TMEM216 MKS1 CEP290 CC2D2A AHI1

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

(show all 12)

#	Name	GO ID	Score	Top Affiliating Genes
1	cilium assembly	GO:0060271	9.7	TMEM67 TMEM216 RPGRIP1L MKS1 CEP290 CC2D2A
2	non-motile cilium assembly	GO:1905515	9.56	TMEM216 RPGRIP1L MKS1 CC2D2A
3	neural tube closure	GO:0001843	9.51	MKS1 CC2D2A
4	determination of left/right symmetry	GO:0007368	9.5	RPGRIP1L MKS1 CC2D2A
5	cell projection organization	GO:0030030	9.5	TMEM67 TMEM216 NPHP1 MKS1 CEP290 CC2D2A
6	camera-type eye development	GO:0043010	9.49	RPGRIP1L CC2D2A
7	motile cilium assembly	GO:0044458	9.48	MKS1 CC2D2A
8	regulation of smoothened signaling pathway	GO:0008589	9.46	RPGRIP1L MKS1
9	hindbrain development	GO:0030902	9.43	CEP290 AHI1
10	head development	GO:0060322	9.4	RPGRIP1L MKS1
11	embryonic brain development	GO:1990403	9.37	MKS1 CC2D2A
12	ciliary basal body-plasma membrane docking	GO:0097711	9.23	TMEM67 TMEM216 RPGRIP1L NPHP1 MKS1 CEP290

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 HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Joubert Syndrome 6 (JBTS6)

Aliases & Classifications for Joubert Syndrome 6

MalaCards integrated aliases for Joubert Syndrome 6:

Characteristics:

OMIM:

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Classifications:

External Ids:

Summaries for Joubert Syndrome 6

Related Diseases for Joubert Syndrome 6

Diseases in the Joubert Syndrome 1 family:

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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:

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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