Joubert Syndrome 4 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

JBTS4 MCID: JBR018 MIFTS: 49	Joubert Syndrome 4 (JBTS4) 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 4

MalaCards integrated aliases for Joubert Syndrome 4:

Name: Joubert Syndrome 4 ⁵⁶ ¹² ⁵² ⁷³ ²⁹ ¹³ ⁶ ⁴³ ¹⁵ ⁷¹

Jbts4 ⁵⁶ ¹² ⁵² ⁷³

Joubert Syndrome with Renal Anomalies ⁵²

Joubert Syndrome with Renal Defect ⁵⁸

Joubert Syndrome, Type 4 ³⁹

Js-R ⁵⁸

Characteristics:

Orphanet epidemiological data:

⁵⁸

joubert syndrome with renal defect
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

⁵⁶

Inheritance:
autosomal recessive

Miscellaneous:
phenotypically mild form of joubert syndrome
genetic heterogeneity (see jbts1 )
allelic disorder to juvenile nephronophthisis-1

HPO:

³¹

joubert syndrome 4:
Inheritance autosomal recessive inheritance heterogeneous

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of the nervous system

Other congenital malformations of brain

Other reduction deformities of brain

Congenital malformations of the urinary system

Cystic kidney disease

Medullary cystic kidney

Orphanet: ⁵⁸

Rare neurological diseases

Rare eye diseases

Rare renal diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹² DOID:0110999

OMIM ⁵⁶ 609583

OMIM Phenotypic Series ⁵⁶ PS213300

MeSH ⁴³ C536296 D002526 D005124 more

ICD10 via Orphanet ³³ Q04.3 Q61.5

Orphanet ⁵⁸ ORPHA220497

MedGen ⁴¹ C1846790

UMLS ⁷¹ C1846790

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Summaries for Joubert Syndrome 4

UniProtKB/Swiss-Prot : ⁷³ Joubert syndrome 4: 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. Joubert syndrome type 4 is a phenotypically mild form.

MalaCards based summary : Joubert Syndrome 4, also known as jbts4, is related to joubert syndrome 26 and orofaciodigital syndrome i, and has symptoms including ataxia An important gene associated with Joubert Syndrome 4 is NPHP1 (Nephrocystin 1), 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 brain, and related phenotypes are intellectual disability and ataxia

Disease Ontology : ¹² A Joubert syndrome that has material basis in deletions of the NPHP1 gene on chromosome 2q13.

More information from OMIM: 609583 PS213300

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Related Diseases for Joubert Syndrome 4

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 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 93)

#	Related Disease	Score	Top Affiliating Genes
1	joubert syndrome 26	10.4	TMEM67 KIF7
2	orofaciodigital syndrome i	10.3	OFD1 CEP290
3	orofaciodigital syndrome iv	10.3	TMEM216 OFD1
4	simpson-golabi-behmel syndrome, type 2	10.3	OFD1 CEP290
5	coach syndrome	10.3	TMEM67 RPGRIP1L CC2D2A
6	cone-rod dystrophy 13	10.3	RPGRIP1L NPHP4
7	endocrine-cerebroosteodysplasia	10.3	KIF7 ARL13B
8	nephronophthisis 15	10.3	NPHP4 NPHP1
9	retinal aplasia	10.2	NPHP4 NPHP1 CEP290
10	leber congenital amaurosis 6	10.2	MKS1 CEP290
11	joubert syndrome 21	10.2	NPHP4 NPHP1 ARL13B
12	joubert syndrome 20	10.2	TMEM67 TMEM237 NPHP4
13	congenital hepatic fibrosis	10.2	TMEM67 RPGRIP1L CC2D2A AHI1
14	arima syndrome	10.1	TMEM237 TMEM216 CEP290 CC2D2A
15	bardet-biedl syndrome 13	10.1	MKS1 CEP290
16	bardet-biedl syndrome 10	10.1	TMEM216 NPHP1 BBS2
17	oligohydramnios	10.1	TMEM67 MKS1 CC2D2A
18	nephronophthisis 4	10.1	NPHP4 NPHP1
19	joubert syndrome 14	10.0	TMEM237 TMEM216 RPGRIP1L NPHP4
20	bardet-biedl syndrome 4	10.0	OFD1 CEP290
21	encephalocele	10.0	TMEM67 MKS1 CEP290 CC2D2A
22	joubert syndrome 15	10.0	TMEM237 TCTN2 TCTN1 KIF7
23	bardet-biedl syndrome 18	10.0	MKS1 BBS2
24	bardet-biedl syndrome 1	10.0	TMEM216 NPHP1 KIF7 BBS2
25	chromosome 2q35 duplication syndrome	9.9	TMEM216 OFD1 BBS2
26	bardet-biedl syndrome 8	9.9	MKS1 CEP290 BBS2
27	bardet-biedl syndrome 6	9.9	MKS1 CEP290 BBS2
28	bardet-biedl syndrome 3	9.9	MKS1 CEP290 BBS2
29	bardet-biedl syndrome 11	9.9	MKS1 BBS2
30	polycystic kidney disease 2 with or without polycystic liver disease	9.8	TMEM67 NPHP4 MKS1 ARL13B
31	hyperuricemic nephropathy, familial juvenile, 1	9.8	NPHP4 NPHP1
32	caroli disease	9.8	NPHP3 NPHP1
33	joubert syndrome 24	9.8	TCTN2 RPGRIP1L NPHP1 CEP290 ARL13B AHI1
34	meckel syndrome, type 7	9.8	TMEM237 TMEM216 NPHP3
35	joubert syndrome 9	9.8	TMEM67 TMEM216 RPGRIP1L CEP290 CC2D2A ARL13B
36	pathologic nystagmus	9.8	TMEM67 MKS1 KIF7 CEP290 AHI1
37	acrocallosal syndrome	9.8	TMEM216 RPGRIP1L KIF7 BBS2 AHI1
38	juvenile nephronophthisis	9.7	NPHP4 NPHP3 NPHP1
39	asphyxiating thoracic dystrophy	9.7	TTC21B RPGRIP1L NPHP4 ARL13B
40	nephronophthisis 16	9.6	NPHP4 NPHP3 NPHP1 CEP290
41	ellis-van creveld syndrome	9.6	TTC21B TMEM216 RPGRIP1L OFD1 ARL13B
42	physical disorder	9.6	OFD1 MKS1 CEP290 BBS2 ARL13B
43	ciliopathy	9.6	TTC21B TMEM67 RPGRIP1L NPHP4 KIF7
44	nephronophthisis 18	9.5	TTC21B NPHP3 NPHP1
45	cogan syndrome	9.5	NPHP4 NPHP1 CEP290 CC2D2A APPL1 AHI1
46	infantile nephronophthisis	9.4	TTC21B NPHP4 NPHP3
47	joubert syndrome 8	9.4	TMEM67 TMEM216 RPGRIP1L OFD1 NPHP1 CEP290
48	bardet-biedl syndrome 14	9.3	TMEM67 TMEM216 RPGRIP1L MKS1 CEP290 CC2D2A
49	nephronophthisis 14	9.3	TMEM67 TCTN2 TCTN1 RPGRIP1L NPHP4 NPHP1
50	short-rib thoracic dysplasia 6 with or without polydactyly	9.3	TTC21B TMEM67 TMEM216 TCTN2 TCTN1 OFD1

Graphical network of the top 20 diseases related to Joubert Syndrome 4:

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Symptoms & Phenotypes for Joubert Syndrome 4

Human phenotypes related to Joubert Syndrome 4:

⁵⁸ ³¹ (show all 44)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	intellectual disability ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001249
2	ataxia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001251
3	muscular hypotonia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001252
4	global developmental delay ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001263
5	nephropathy ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000112
6	apnea ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002104
7	cerebellar vermis hypoplasia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001320
8	oculomotor apraxia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000657
9	molar tooth sign on mri ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002419
10	nystagmus ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000639
11	gait disturbance ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001288
12	feeding difficulties ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0011968
13	biparietal narrowing ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0004422
14	low-set, posteriorly rotated ears ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000368
15	long face ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000276
16	agenesis of corpus callosum ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001274
17	seizures ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001250
18	scoliosis ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002650
19	ptosis ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000508
20	tremor ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001337
21	hydrocephalus ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000238
22	anteverted nares ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000463
23	renal insufficiency ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000083
24	cleft palate ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000175
25	highly arched eyebrow ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002553
26	strabismus ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000486
27	prominent nasal bridge ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000426
28	aganglionic megacolon ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002251
29	iris coloboma ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000612
30	hand polydactyly ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001161
31	polymicrogyria ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002126
32	encephalocele ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002084
33	abnormality of the hypothalamus-pituitary axis ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000864
34	abnormality of cardiovascular system morphology ³¹	occasional (7.5%)		HP:0030680
35	delayed gross motor development ³¹			HP:0002194
36	cognitive impairment ³¹			HP:0100543
37	generalized hypotonia ³¹			HP:0001290
38	malformation of the heart and great vessels ⁵⁸		Occasional (29-5%)
39	abnormal pattern of respiration ⁵⁸		Very frequent (99-80%)
40	nephronophthisis ³¹			HP:0000090
41	oral cleft ⁵⁸		Occasional (29-5%)
42	hypometric saccades ³¹			HP:0000571
43	elongated superior cerebellar peduncle ³¹			HP:0011933
44	thickened superior cerebellar peduncle ³¹			HP:0002404

Symptoms via clinical synopsis from OMIM:

⁵⁶

Head And Neck Eyes:
nystagmus
oculomotor apraxia
hypometric saccades
abnormal eye movements

Genitourinary Kidneys:
nephronophthisis
renal failure
tubulointerstitial medullary cystic kidney disease

Neurologic Central Nervous System:
ataxia
cerebellar vermis hypoplasia
cognitive impairment, mild
hypotonia, mild
'molar tooth sign' on mri
more

Clinical features from OMIM:

609583

UMLS symptoms related to Joubert Syndrome 4:

ataxia

MGI Mouse Phenotypes related to Joubert Syndrome 4:

⁴⁵ (show all 12)

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cellular	MP:0005384	10.45	AHI1 APPL1 ARL13B BBS2 CC2D2A CEP290
2	cardiovascular system	MP:0005385	10.29	APPL1 CC2D2A CEP290 KIF7 MKS1 NPHP3
3	growth/size/body region	MP:0005378	10.28	AHI1 APPL1 ARL13B BBS2 CC2D2A CEP290
4	embryo	MP:0005380	10.21	ARL13B CC2D2A KIF7 MKS1 NPHP3 OFD1
5	nervous system	MP:0003631	10.19	AHI1 ARL13B BBS2 CC2D2A CEP290 KIF7
6	craniofacial	MP:0005382	10.18	CC2D2A CEP290 KIF7 MKS1 NPHP3 OFD1
7	mortality/aging	MP:0010768	10.13	AHI1 APPL1 ARL13B CC2D2A CEP290 KIF7
8	digestive/alimentary	MP:0005381	10.11	BBS2 CC2D2A KIF7 MKS1 OFD1 RPGRIP1L
9	limbs/digits/tail	MP:0005371	10.07	BBS2 CC2D2A KIF7 MKS1 OFD1 RPGRIP1L
10	renal/urinary system	MP:0005367	9.97	AHI1 ARL13B BBS2 CC2D2A CEP290 MKS1
11	respiratory system	MP:0005388	9.5	ARL13B CC2D2A CEP290 KIF7 MKS1 OFD1
12	vision/eye	MP:0005391	9.32	AHI1 BBS2 CC2D2A CEP290 KIF7 MKS1

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Drugs & Therapeutics for Joubert Syndrome 4

Search Clinical Trials , NIH Clinical Center for Joubert Syndrome 4

Cochrane evidence based reviews: joubert syndrome 4

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Genetic Tests for Joubert Syndrome 4

Genetic tests related to Joubert Syndrome 4:

#	Genetic test	Affiliating Genes
1	Joubert Syndrome 4 ²⁹

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Anatomical Context for Joubert Syndrome 4

MalaCards organs/tissues related to Joubert Syndrome 4:

⁴⁰

Kidney, Eye, Brain, Liver, Heart, Hypothalamus, Pituitary

Sources

Publications for Joubert Syndrome 4

Articles related to Joubert Syndrome 4:

(show all 18)

#	Title	Authors	PMID	Year
1	AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome. ⁵⁶ ⁶	Parisi MA...Glass IA	16155189	2006
2	The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome. ⁵⁶ ⁶	Parisi MA...Glass IA	15138899	2004
3	Exome sequencing can improve diagnosis and alter patient management. ⁶	Dixon-Salazar TJ...Gleeson JG	22700954	2012
4	Clinical utility gene card for: Joubert syndrome. ⁶	Valente EM...Dallapiccola B	21448235	2011
5	Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. ⁶	Dafinger C...Bolz HJ	21633164	2011
6	RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders. ⁶	Brancati F...Valente EM	18565097	2008
7	Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. ⁶	Arts HH...Roepman R	17558407	2007
8	The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. ⁶	Delous M...Saunier S	17558409	2007
9	Joubert Syndrome ⁶	Parisi M...Glass I	20301500	2003
10	Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis. ⁶	Saunier S...Antignac C	10712196	2000
11	Renal-retinal syndromes: association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 locus. ⁶	Caridi G...Ghiggeri GM	9856524	1998
12	A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1. ⁶	Hildebrandt F...Brandis M	9326933	1997
13	Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis. ⁶	Konrad M...Antignac C	8852662	1996
14	Relationships Between Olympic Weightlifting Exercises, Peak Power of the Upper and Lower Limb, Muscle Volume and Throwing Ball Velocity in Elite Male Handball Players. ⁶¹	Hermassi S...Schwesig R	29996167	2019
15	Relationship between emotional intelligence and job satisfaction in newly qualified Malaysian dentists. ⁶¹	Pau A...Sabri BA	22743863	2015
16	The relationship between emotional intelligence and job stress in the faculty of medicine in Isfahan University of Medical Sciences. ⁶¹	Yamani N...Haghani F	25512914	2014
17	Molecular bases for resistance to acetyl-coenzyme A carboxylase inhibitor in Japanese foxtail (Alopecurus japonicus). ⁶¹	Tang H...Zhu X	22461409	2012
18	Air medical program merger and stress. ⁶¹	Herron H...Falcone RE	10345780	1999

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Genes for Joubert Syndrome 4

Genes related to Joubert Syndrome 4 (3 elite genes):

(show all 21)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	NPHP1	Nephrocystin 1	Protein Coding	1274.85	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation ⁵⁸ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	8852662 16155189 9326933 (more) 10712196 15138899 21448235 20301500 9856524
2	RPGRIP1L	RPGRIP1 Like	Protein Coding	357.11	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁵
3	TMEM237	Transmembrane Protein 237	Protein Coding	354.66	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁵
4	AHI1	Abelson Helper Integration Site 1	Protein Coding	7.49	DISEASES inferred ¹⁵
5	CEP290	Centrosomal Protein 290	Protein Coding	7.3	DISEASES inferred ¹⁵
6	TMEM67	Transmembrane Protein 67	Protein Coding	7.25	DISEASES inferred ¹⁵
7	CC2D2A	Coiled-Coil And C2 Domain Containing 2A	Protein Coding	6.91	DISEASES inferred ¹⁵
8	ARL13B	ADP Ribosylation Factor Like GTPase 13B	Protein Coding	6.58	DISEASES inferred ¹⁵
9	TMEM216	Transmembrane Protein 216	Protein Coding	6.57	DISEASES inferred ¹⁵
10	KIF7	Kinesin Family Member 7	Protein Coding	6.49	DISEASES inferred ¹⁵
11	OFD1	OFD1 Centriole And Centriolar Satellite Protein	Protein Coding	6.24	DISEASES inferred ¹⁵
12	TCTN2	Tectonic Family Member 2	Protein Coding	6.11	DISEASES inferred ¹⁵
13	TCTN1	Tectonic Family Member 1	Protein Coding	6.06	DISEASES inferred ¹⁵
14	UBR1	Ubiquitin Protein Ligase E3 Component N-Recognin 1	Protein Coding	5.97	DISEASES inferred ¹⁵
15	NPHP4	Nephrocystin 4	Protein Coding	5.92	DISEASES inferred ¹⁵
16	MKS1	MKS Transition Zone Complex Subunit 1	Protein Coding	5.84	DISEASES inferred ¹⁵
17	BBS2	Bardet-Biedl Syndrome 2	Protein Coding	5.84	DISEASES inferred ¹⁵
18	APPL1	Adaptor Protein, Phosphotyrosine Interacting With PH Domain And Leucine Zipper 1	Protein Coding	5.71	DISEASES inferred ¹⁵
19	TTC21B	Tetratricopeptide Repeat Domain 21B	Protein Coding	5.66	DISEASES inferred ¹⁵
20	NPHP3	Nephrocystin 3	Protein Coding	5.56	DISEASES inferred ¹⁵
21	B9D2	B9 Domain Containing 2	Protein Coding	5.28	DISEASES inferred ¹⁵

Sources

Variations for Joubert Syndrome 4

ClinVar genetic disease variations for Joubert Syndrome 4:

⁶ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1		2q13 deletion	deletion	Pathogenic	217684
2	NPHP1	NPHP1, DEL	deletion	Pathogenic	3511
3	NPHP1	NM_000272.4(NPHP1):c.971T>C (p.Met324Thr)	SNV	Conflicting interpretations of pathogenicity	288369	rs114250691	2:110920681-110920681	2:110163104-110163104
4	NPHP1	NM_000272.3(NPHP1):c.625-3dup	duplication	Conflicting interpretations of pathogenicity	156395	rs200118387	2:110922740-110922740	2:110165157-110165158
5	NPHP1	NM_000272.4(NPHP1):c.232T>C (p.Tyr78His)	SNV	Conflicting interpretations of pathogenicity	167377	rs140446520	2:110936097-110936097	2:110178520-110178520
6	NPHP1	NM_000272.4(NPHP1):c.1333C>T (p.Arg445Cys)	SNV	Uncertain significance	330732	rs375907280	2:110905597-110905597	2:110148020-110148020

Sources

Expression for Joubert Syndrome 4

Search GEO for disease gene expression data for Joubert Syndrome 4.

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Pathways for Joubert Syndrome 4

Pathways related to Joubert Syndrome 4 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	12.72	TMEM67 TMEM216 TCTN2 TCTN1 RPGRIP1L OFD1
2	Organelle biogenesis and maintenance ⁶⁵ Show member pathways Cilium Assembly ⁶⁵	12.25	TTC21B TMEM67 TMEM216 TCTN2 TCTN1 RPGRIP1L
3	Signaling by Hedgehog ⁶⁵ Show member pathways Activation of SMO ⁶⁵ Hedgehog off' state ⁶⁵ Hedgehog on' state ⁶⁵	12.09	TTC21B RPGRIP1L OFD1 MKS1 KIF7
4	Cargo trafficking to the periciliary membrane ⁶⁵ Show member pathways ARL13B-mediated ciliary trafficking of INPP5E ⁶⁵ BBSome-mediated cargo-targeting to cilium ⁶⁵ Trafficking of myristoylated proteins to the cilium ⁶⁵ VxPx cargo-targeting to cilium ⁶⁵	11.46	NPHP3 BBS2 ARL13B

Sources

GO Terms for Joubert Syndrome 4

Cellular components related to Joubert Syndrome 4 according to GeneCards Suite gene sharing:

(show all 17)

#	Name	GO ID	Score	Top Affiliating Genes
1	cytosol	GO:0005829	10.36	UBR1 TMEM216 TCTN1 RPGRIP1L OFD1 NPHP4
2	cytoplasm	GO:0005737	10.36	UBR1 TTC21B TMEM67 TMEM216 TCTN2 TCTN1
3	cytoskeleton	GO:0005856	10.2	TTC21B TMEM67 TMEM216 TCTN2 TCTN1 RPGRIP1L
4	centrosome	GO:0005813	10	TMEM67 RPGRIP1L OFD1 NPHP4 MKS1 CEP290
5	microtubule organizing center	GO:0005815	9.97	RPGRIP1L OFD1 NPHP4 MKS1 CEP290 BBS2
6	ciliary basal body	GO:0036064	9.97	RPGRIP1L OFD1 NPHP4 MKS1 KIF7 CEP290
7	MKS complex	GO:0036038	9.86	TMEM67 TMEM216 TCTN2 TCTN1 MKS1 CEP290
8	cilium	GO:0005929	9.86	TTC21B TMEM67 TMEM237 TMEM216 RPGRIP1L OFD1
9	cell-cell junction	GO:0005911	9.85	RPGRIP1L NPHP4 NPHP1 AHI1
10	ciliary transition zone	GO:0035869	9.85	TMEM67 TMEM237 TMEM216 TCTN1 RPGRIP1L NPHP4
11	centriole	GO:0005814	9.84	OFD1 MKS1 CEP290 AHI1
12	ciliary membrane	GO:0060170	9.78	TMEM67 TCTN2 BBS2 ARL13B
13	motile cilium	GO:0031514	9.74	NPHP1 BBS2 ARL13B
14	bicellular tight junction	GO:0005923	9.73	RPGRIP1L NPHP4 NPHP1
15	photoreceptor connecting cilium	GO:0032391	9.71	RPGRIP1L NPHP4 NPHP1 CEP290
16	non-motile cilium	GO:0097730	9.7	NPHP4 ARL13B AHI1
17	cell projection	GO:0042995	9.6	TTC21B TMEM67 TMEM237 TMEM216 TCTN2 TCTN1

Biological processes related to Joubert Syndrome 4 according to GeneCards Suite gene sharing:

(show all 21)

#	Name	GO ID	Score	Top Affiliating Genes
1	ciliary basal body-plasma membrane docking	GO:0097711	9.93	TMEM67 TMEM216 TCTN2 TCTN1 RPGRIP1L OFD1
2	determination of left/right symmetry	GO:0007368	9.8	RPGRIP1L NPHP3 MKS1 CC2D2A ARL13B
3	smoothened signaling pathway	GO:0007224	9.77	TTC21B TCTN2 MKS1 CC2D2A ARL13B
4	regulation of smoothened signaling pathway	GO:0008589	9.73	TTC21B TCTN1 RPGRIP1L MKS1
5	non-motile cilium assembly	GO:1905515	9.73	TMEM216 RPGRIP1L MKS1 CC2D2A BBS2 ARL13B
6	cell projection organization	GO:0030030	9.73	TMEM67 TMEM237 TMEM216 TCTN2 TCTN1 OFD1
7	heart looping	GO:0001947	9.71	NPHP3 ARL13B AHI1
8	photoreceptor cell maintenance	GO:0045494	9.63	NPHP4 NPHP3 BBS2
9	protein localization to ciliary transition zone	GO:1904491	9.62	TCTN2 TCTN1 NPHP4 CC2D2A
10	motile cilium assembly	GO:0044458	9.6	MKS1 CC2D2A
11	hindbrain development	GO:0030902	9.59	CEP290 AHI1
12	head development	GO:0060322	9.58	RPGRIP1L MKS1
13	left/right axis specification	GO:0070986	9.58	ARL13B AHI1
14	embryonic brain development	GO:1990403	9.57	MKS1 CC2D2A
15	epithelial cilium movement involved in determination of left/right asymmetry	GO:0060287	9.56	OFD1 NPHP3
16	photoreceptor cell outer segment organization	GO:0035845	9.55	NPHP4 AHI1
17	positive regulation of bicellular tight junction assembly	GO:1903348	9.52	NPHP4 NPHP1
18	neural tube patterning	GO:0021532	9.51	RPGRIP1L ARL13B
19	regulation of Wnt signaling pathway, planar cell polarity pathway	GO:2000095	9.49	NPHP3 MKS1
20	visual behavior	GO:0007632	9.48	NPHP4 NPHP1
21	cilium assembly	GO:0060271	9.47	TMEM67 TMEM237 TMEM216 TCTN2 TCTN1 RPGRIP1L

Molecular functions related to Joubert Syndrome 4 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	protein binding	GO:0005515	9.55	UBR1 TTC21B TMEM67 TMEM237 TMEM216 RPGRIP1L

Sources

Sources for Joubert Syndrome 4

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

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⁹ Cosmic

¹⁰ dbSNP

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²⁰ GeneAnalytics

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³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

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⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

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⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

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⁵³ NINDS

⁵⁴ Novoseek

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⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

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⁶¹ PubMed

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⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Joubert Syndrome 4 (JBTS4)

Aliases & Classifications for Joubert Syndrome 4

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