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

JBTS6 MCID: JBR015 MIFTS: 42	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 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:

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

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0111001

OMIM ⁵⁸ 610688

MeSH ⁴⁵ C537689 D002526 D005124 more

MedGen ⁴³ C1853153

SNOMED-CT via HPO ⁷⁰ 193662007 20239009 204958008 more

UMLS ⁷⁴ C1853153

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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, 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 : 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.

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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 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:

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Symptoms & Phenotypes for Joubert Syndrome 6

Human phenotypes related to Joubert Syndrome 6:

³³ (show all 19)

#	Description	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

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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 ³⁰	TMEM67

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Anatomical Context for Joubert Syndrome 6

MalaCards organs/tissues related to Joubert Syndrome 6:

⁴²

Kidney, Eye, Liver

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Publications for Joubert Syndrome 6

Articles related to Joubert Syndrome 6:

#	Title	Authors	Year
1	Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome. ( 29891882 )	Brancati F...Undiagnosed Disease Network Italy	2018
2	Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. ( 21633164 )	Dafinger C...Bolz HJ	2011
3	Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). ( 19574260 )	Doherty D...Glass IA	2010
4	MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement. ( 19058225 )	Brancati F...International JSRD Study Group	2009
5	Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). ( 19508969 )	Otto EA...Hildebrandt F	2009
6	The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. ( 17160906 )	Baala L...Attie-Bitach T	2007
7	Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3. ( 17377820 )	Consugar MB...Harris PC	2007
8	Molar tooth sign and superior vermian dysplasia: a radiological, clinical, and genetic study. ( 16541367 )	Romano S...de Lonlay P	2006
9	Retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia (RHYNS): a new syndrome? ( 9375913 )	Di Rocco M...Borrone C	1997
10	Further delineation of a syndrome of cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis. ( 2929661 )	Verloes A...Lambotte C	1989

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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	1335.67	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ Genetic Tests ³⁰ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	17160906 20301500 19574260 (more) 16541367 2929661 19058225 19508969 21633164 17377820 29891882 9375913
2	MKS1	MKS Transition Zone Complex Subunit 1	Protein Coding	16.97	DISEASES inferred ¹⁵
3	AHI1	Abelson Helper Integration Site 1	Protein Coding	16.21	DISEASES inferred ¹⁵
4	NPHP1	Nephrocystin 1	Protein Coding	16	DISEASES inferred ¹⁵
5	CEP290	Centrosomal Protein 290	Protein Coding	15.98	DISEASES inferred ¹⁵

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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 106)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	TMEM67	NM_153704.5(TMEM67): c.2315_2322+5del13insGG	indel	Pathogenic	rs1554557920	GRCh37	Chromosome 8, 94815905: 94815917
2	TMEM67	NM_153704.5(TMEM67): c.2315_2322+5del13insGG	indel	Pathogenic	rs1554557920	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.622A> T (p.Arg208Ter)	single nucleotide variant	Pathogenic	rs137853108	GRCh38	Chromosome 8, 93765617: 93765617
14	TMEM67	NM_153704.5(TMEM67): c.2498T> C (p.Ile833Thr)	single nucleotide variant	Pathogenic	rs267607119	GRCh37	Chromosome 8, 94821126: 94821126
15	TMEM67	NM_153704.5(TMEM67): c.2498T> C (p.Ile833Thr)	single nucleotide variant	Pathogenic	rs267607119	GRCh38	Chromosome 8, 93808898: 93808898
16	TMEM67	NM_153704.5(TMEM67): c.2556+1G> T	single nucleotide variant	Pathogenic	rs786200867	GRCh37	Chromosome 8, 94821185: 94821185
17	TMEM67	NM_153704.5(TMEM67): c.2556+1G> T	single nucleotide variant	Pathogenic	rs786200867	GRCh38	Chromosome 8, 93808957: 93808957
18	TMEM67	NM_153704.5(TMEM67): c.1769T> C (p.Phe590Ser)	single nucleotide variant	Pathogenic	rs267607115	GRCh37	Chromosome 8, 94807731: 94807731
19	TMEM67	NM_153704.5(TMEM67): c.1769T> C (p.Phe590Ser)	single nucleotide variant	Pathogenic	rs267607115	GRCh38	Chromosome 8, 93795503: 93795503
20	TMEM67	NM_001142301.1(TMEM67): c.2218G> A (p.Gly740Ser)	single nucleotide variant	Pathogenic	rs267607116	GRCh37	Chromosome 8, 94821089: 94821089
21	TMEM67	NM_001142301.1(TMEM67): c.2218G> A (p.Gly740Ser)	single nucleotide variant	Pathogenic	rs267607116	GRCh38	Chromosome 8, 93808861: 93808861
22	TMEM67	NM_001142301.1(TMEM67): c.2218G> C (p.Gly740Arg)	single nucleotide variant	Pathogenic	rs267607116	GRCh37	Chromosome 8, 94821089: 94821089
23	TMEM67	NM_001142301.1(TMEM67): c.2218G> C (p.Gly740Arg)	single nucleotide variant	Pathogenic	rs267607116	GRCh38	Chromosome 8, 93808861: 93808861
24	TMEM67	NM_153704.5(TMEM67): c.130C> T (p.Gln44Ter)	single nucleotide variant	Pathogenic	rs267607118	GRCh37	Chromosome 8, 94767272: 94767272
25	TMEM67	NM_153704.5(TMEM67): c.130C> T (p.Gln44Ter)	single nucleotide variant	Pathogenic	rs267607118	GRCh38	Chromosome 8, 93755044: 93755044
26	TMEM67	NM_153704.5(TMEM67): c.755T> C (p.Met252Thr)	single nucleotide variant	Pathogenic	rs202149403	GRCh37	Chromosome 8, 94792861: 94792861
27	TMEM67	NM_153704.5(TMEM67): c.1843T> C (p.Cys615Arg)	single nucleotide variant	Pathogenic/Likely pathogenic	rs201893408	GRCh37	Chromosome 8, 94808198: 94808198
28	TMEM67	NM_153704.5(TMEM67): c.1843T> C (p.Cys615Arg)	single nucleotide variant	Pathogenic/Likely pathogenic	rs201893408	GRCh38	Chromosome 8, 93795970: 93795970
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.2322+2dupT	duplication	Conflicting interpretations of pathogenicity	rs386834192	GRCh37	Chromosome 8, 94815914: 94815914
34	TMEM67	NM_153704.5(TMEM67): c.2322+2dupT	duplication	Conflicting interpretations of pathogenicity	rs386834192	GRCh38	Chromosome 8, 93803686: 93803686
35	TMEM67	NM_153704.5(TMEM67): c.579_580delAG (p.Gly195Ilefs)	deletion	Pathogenic/Likely pathogenic	rs386834202	GRCh37	Chromosome 8, 94777802: 94777803
36	TMEM67	NM_153704.5(TMEM67): c.579_580delAG (p.Gly195Ilefs)	deletion	Pathogenic/Likely pathogenic	rs386834202	GRCh38	Chromosome 8, 93765574: 93765575
37	TMEM67	NM_153704.5(TMEM67): c.675G> A (p.Trp225Ter)	single nucleotide variant	Pathogenic	rs386834205	GRCh37	Chromosome 8, 94784840: 94784840
38	TMEM67	NM_153704.5(TMEM67): c.675G> A (p.Trp225Ter)	single nucleotide variant	Pathogenic	rs386834205	GRCh38	Chromosome 8, 93772612: 93772612
39	TMEM67	NM_153704.5(TMEM67): c.297G> T (p.Lys99Asn)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs797046045	GRCh37	Chromosome 8, 94768079: 94768079
40	TMEM67	NM_153704.5(TMEM67): c.297G> T (p.Lys99Asn)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs797046045	GRCh38	Chromosome 8, 93755851: 93755851
41	TMEM67	NM_153704.5(TMEM67): c.725A> G (p.Asn242Ser)	single nucleotide variant	Pathogenic/Likely pathogenic	rs775883520	GRCh37	Chromosome 8, 94792831: 94792831
42	TMEM67	NM_153704.5(TMEM67): c.725A> G (p.Asn242Ser)	single nucleotide variant	Pathogenic/Likely pathogenic	rs775883520	GRCh38	Chromosome 8, 93780603: 93780603
43	TMEM67	NM_153704.5(TMEM67): c.244C> T (p.Pro82Ser)	single nucleotide variant	Pathogenic	rs762543032	GRCh38	Chromosome 8, 93755798: 93755798
44	TMEM67	NM_153704.5(TMEM67): c.244C> T (p.Pro82Ser)	single nucleotide variant	Pathogenic	rs762543032	GRCh37	Chromosome 8, 94768026: 94768026
45	TMEM67	NM_153704.5(TMEM67): c.245C> G (p.Pro82Arg)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs772437766	GRCh38	Chromosome 8, 93755799: 93755799
46	TMEM67	NM_153704.5(TMEM67): c.245C> G (p.Pro82Arg)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs772437766	GRCh37	Chromosome 8, 94768027: 94768027
47	TMEM67	NM_153704.5(TMEM67): c.300C> A (p.Cys100Ter)	single nucleotide variant	Pathogenic	rs751309268	GRCh38	Chromosome 8, 93755854: 93755854
48	TMEM67	NM_153704.5(TMEM67): c.300C> A (p.Cys100Ter)	single nucleotide variant	Pathogenic	rs751309268	GRCh37	Chromosome 8, 94768082: 94768082
49	TMEM67	NM_153704.5(TMEM67): c.389C> G (p.Pro130Arg)	single nucleotide variant	Pathogenic	rs863225226	GRCh38	Chromosome 8, 93758559: 93758559
50	TMEM67	NM_153704.5(TMEM67): c.389C> G (p.Pro130Arg)	single nucleotide variant	Pathogenic	rs863225226	GRCh37	Chromosome 8, 94770787: 94770787

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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 ⁶⁷ Show member pathways Anchoring of the basal body to the plasma membrane ⁶⁷ AURKA Activation by TPX2 ⁶⁷ Centrosome maturation ⁶⁷ G2/M Transition ⁶⁷ Interaction between PHLDA1 and AURKA ⁶⁷ Loss of Nlp from mitotic centrosomes ⁶⁷ Loss of proteins required for interphase microtubule organization from the centrosome ⁶⁷ Mitotic G2-G2/M phases ⁶⁷ Polo-like kinase mediated events ⁶⁷ Recruitment of mitotic centrosome proteins and complexes ⁶⁷ Recruitment of NuMA to mitotic centrosomes ⁶⁷	12.34	AHI1 CEP290 MKS1 NPHP1 TMEM67
2	Organelle biogenesis and maintenance ⁶⁷ Show member pathways Cilium Assembly ⁶⁷	11.75	AHI1 CEP290 MKS1 NPHP1 TMEM67
3	Ectoderm Differentiation ¹	11.31	AHI1 MKS1

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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	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

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 FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

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⁵⁸ OMIM

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⁶⁰ Orphanet

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⁶² PharmGKB

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⁷⁰ SNOMED-CT via HPO

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⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ 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

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

ClinVar 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