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

JBTS4 MCID: JBR018 MIFTS: 52	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 ⁵⁷ ¹² ²⁰ ⁷³ ²⁹ ¹³ ⁶ ⁴⁴ ¹⁵ ⁷¹

Jbts4 ⁵⁷ ¹² ²⁰ ⁷³

Joubert Syndrome with Renal Anomalies ²⁰

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®:

⁵⁷ (Updated 05-Mar-2021)

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® ⁵⁷ 609583

OMIM Phenotypic Series ⁵⁷ PS213300

MeSH ⁴⁴ 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 orofaciodigital syndrome i and simpson-golabi-behmel syndrome, type 2, 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 eye, kidney 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
Joubert Syndrome 37

Diseases related to Joubert Syndrome 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 104)

#	Related Disease	Score	Top Affiliating Genes
1	orofaciodigital syndrome i	10.3	OFD1 CEP290
2	simpson-golabi-behmel syndrome, type 2	10.3	OFD1 CEP290
3	orofaciodigital syndrome iv	10.3	TMEM216 OFD1
4	joubert syndrome 20	10.3	TMEM237 NPHP4
5	bardet-biedl syndrome 11	10.2	RPGRIP1L MKS1 CEP290
6	bardet-biedl syndrome 6	10.2	RPGRIP1L MKS1 CEP290
7	retinal ciliopathy	10.2	IQCB1 CEP290
8	leber congenital amaurosis 6	10.2	MKS1 CEP290
9	orofaciodigital syndrome ix	10.2	DZANK1 CCDC120
10	congenital hepatic fibrosis	10.2	TMEM67 RPGRIP1L CC2D2A AHI1
11	oligohydramnios	10.2	TMEM67 MKS1 CC2D2A
12	bardet-biedl syndrome 13	10.2	MKS1 CEP290
13	retinitis pigmentosa 34	10.2	OFD1 IQCB1
14	johanson-blizzard syndrome	10.2	TMEM216 RPGRIP1L CEP290 CC2D2A
15	cone-rod dystrophy 20	10.2	DZANK1 CCDC120
16	seckel syndrome 7	10.2	DZANK1 CCDC120
17	infantile nephronophthisis	10.1	TTC21B NPHP4
18	encephalocele	10.1	TMEM67 MKS1 CEP290 CC2D2A
19	joubert syndrome 23	10.1	DZANK1 CCDC120
20	retinitis pigmentosa 54	10.1	DZANK1 CCDC120 CC2D2A
21	meckel syndrome, type 7	10.1	TMEM237 TMEM216 MKS1 CC2D2A
22	cone-rod dystrophy 13	10.1	RPGRIP1L NPHP4 IQCB1
23	nephronophthisis 18	10.1	NPHP4 NPHP1 IQCB1
24	nephronophthisis 15	10.1	NPHP4 NPHP1 IQCB1
25	leber congenital amaurosis 3	10.1	NPHP4 IQCB1 CEP290
26	leber congenital amaurosis 8	10.1	IQCB1 CEP290
27	pathologic nystagmus	10.1	TMEM67 MKS1 KIF7 CEP290
28	polycystic kidney disease 2 with or without polycystic liver disease	10.1	TMEM67 NPHP4 MKS1 ARL13B
29	joubert syndrome 14	10.1	TMEM237 TMEM216 RPGRIP1L NPHP4 NPHP1
30	nephronophthisis 4	10.1	NPHP4 NPHP1
31	leber congenital amaurosis 10	10.1	IQCB1 CEP290
32	polycystic kidney disease	10.1	TMEM67 OFD1 MKS1 CEP290 CC2D2A
33	orofaciodigital syndrome	10.1	TMEM67 TMEM216 TCTN1 OFD1 CEP290
34	arima syndrome	10.1	TMEM237 TMEM216 NPHP4 CEP290 CC2D2A
35	kidney disease	10.0	TMEM67 NPHP4 NPHP1 CEP290 CC2D2A AHI1
36	short-rib thoracic dysplasia 3 with or without polydactyly	10.0	TTC21B IFT80 ARL13B
37	cogan syndrome	10.0	RPGRIP1L NPHP4 NPHP1 CEP290 CC2D2A AHI1
38	physical disorder	10.0	TMEM67 OFD1 MKS1 CEP290 ARL13B
39	nephronophthisis 1	10.0	RPGRIP1L NPHP4 NPHP1 MKS1 CC2D2A AHI1
40	joubert syndrome 15	10.0	TMEM237 RPGRIP1L NPHP4 NPHP1 KIF7 CC2D2A
41	alstrom syndrome	10.0	RPGRIP1L IQCB1 IFT80 CEP290
42	joubert syndrome 24	10.0	TCTN2 RPGRIP1L NPHP1 CEP290 ARL13B AHI1
43	short-rib thoracic dysplasia 2 with or without polydactyly	10.0	TTC21B IFT80
44	nephronophthisis 13	10.0	TTC21B NPHP4 NPHP1 IQCB1
45	apraxia	10.0	TMEM67 TCTN2 NPHP1 CEP290 CC2D2A AHI1
46	eye disease	9.9	NPHP4 NPHP1 IQCB1 CEP290 AHI1
47	acrocallosal syndrome	9.9	TMEM216 RPGRIP1L NPHP1 KIF7 IFT80 AHI1
48	holoprosencephaly	9.9	TMEM216 TCTN2 TCTN1 KIF7 ARL13B
49	nephronophthisis 16	9.9	TMEM67 RPGRIP1L NPHP4 NPHP1 IQCB1 CEP290
50	leber congenital amaurosis 4	9.9	IQCB1 CEP290

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 46)

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

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Mar-2021)

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 (Updated 05-Mar-2021)

UMLS symptoms related to Joubert Syndrome 4:

ataxia

MGI Mouse Phenotypes related to Joubert Syndrome 4:

⁴⁶ (show all 12)

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cellular	MP:0005384	10.37	AHI1 ARL13B CC2D2A CEP290 IFT80 KIF7
2	cardiovascular system	MP:0005385	10.25	CC2D2A CEP290 DZANK1 KIF7 MKS1 NPHP4
3	growth/size/body region	MP:0005378	10.22	AHI1 ARL13B CC2D2A CEP290 IFT80 KIF7
4	mortality/aging	MP:0010768	10.2	AHI1 ARL13B CC2D2A CEP290 DZANK1 IFT80
5	craniofacial	MP:0005382	10.18	CC2D2A CEP290 IFT80 KIF7 MKS1 OFD1
6	embryo	MP:0005380	10.13	ARL13B CC2D2A KIF7 MKS1 OFD1 RPGRIP1L
7	nervous system	MP:0003631	10.13	AHI1 ARL13B CC2D2A CEP290 KIF7 MKS1
8	limbs/digits/tail	MP:0005371	10.07	CC2D2A IFT80 KIF7 MKS1 OFD1 RPGRIP1L
9	digestive/alimentary	MP:0005381	10	CC2D2A KIF7 MKS1 OFD1 RPGRIP1L TCTN2
10	renal/urinary system	MP:0005367	9.93	AHI1 ARL13B CC2D2A CEP290 IFT80 MKS1
11	respiratory system	MP:0005388	9.5	ARL13B CC2D2A CEP290 KIF7 MKS1 OFD1
12	vision/eye	MP:0005391	9.44	AHI1 ARL13B CC2D2A CEP290 DZANK1 IFT80

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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	NPHP1

Sources

Anatomical Context for Joubert Syndrome 4

MalaCards organs/tissues related to Joubert Syndrome 4:

⁴⁰

Eye, Kidney, Brain, Hypothalamus, Pituitary, Heart

Sources

Publications for Joubert Syndrome 4

Articles related to Joubert Syndrome 4:

(show all 14)

#	Title	Authors	PMID	Year
1	AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome. ⁶ ⁵⁷	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. ⁶ ⁵⁷	Parisi MA...Glass IA	15138899	2004
3	RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders. ⁶	Brancati F...Valente EM	18565097	2008
4	Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. ⁶	Arts HH...Roepman R	17558407	2007
5	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
6	Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis. ⁶	Saunier S...Antignac C	10712196	2000
7	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
8	A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1. ⁶	Hildebrandt F...Brandis M	9326933	1997
9	Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis. ⁶	Konrad M...Antignac C	8852662	1996
10	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
11	Relationship between emotional intelligence and job satisfaction in newly qualified Malaysian dentists. ⁶¹	Pau A...Sabri BA	22743863	2015
12	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
13	Molecular bases for resistance to acetyl-coenzyme A carboxylase inhibitor in Japanese foxtail (Alopecurus japonicus). ⁶¹	Tang H...Zhu X	22461409	2012
14	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 25)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	NPHP1	Nephrocystin 1	Protein Coding	1375.65	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁸ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	8852662 9326933 10712196 (more) 9856524 15138899 16155189
2	RPGRIP1L	RPGRIP1 Like	Protein Coding	782.19	Pathogenic ⁶ Causative germline mutation ⁵⁸ Likely pathogenic ⁶ DISEASES inferred ¹⁵	17558409
3	TMEM237	Transmembrane Protein 237	Protein Coding	350	Causative germline mutation ⁵⁸
4	AHI1	Abelson Helper Integration Site 1	Protein Coding	7.25	DISEASES inferred ¹⁵
5	CEP290	Centrosomal Protein 290	Protein Coding	7.16	DISEASES inferred ¹⁵
6	TMEM67	Transmembrane Protein 67	Protein Coding	6.94	DISEASES inferred ¹⁵
7	CC2D2A	Coiled-Coil And C2 Domain Containing 2A	Protein Coding	6.7	DISEASES inferred ¹⁵
8	ARL13B	ADP Ribosylation Factor Like GTPase 13B	Protein Coding	6.22	DISEASES inferred ¹⁵
9	TMEM216	Transmembrane Protein 216	Protein Coding	6.19	DISEASES inferred ¹⁵
10	KIF7	Kinesin Family Member 7	Protein Coding	6.09	DISEASES inferred ¹⁵
11	OFD1	OFD1 Centriole And Centriolar Satellite Protein	Protein Coding	6.05	DISEASES inferred ¹⁵
12	NPHP4	Nephrocystin 4	Protein Coding	6	DISEASES inferred ¹⁵
13	TCTN1	Tectonic Family Member 1	Protein Coding	5.83	DISEASES inferred ¹⁵
14	MKS1	MKS Transition Zone Complex Subunit 1	Protein Coding	5.66	DISEASES inferred ¹⁵
15	CCDC120	Coiled-Coil Domain Containing 120	Protein Coding	5.64	DISEASES inferred ¹⁵
16	TCTN2	Tectonic Family Member 2	Protein Coding	5.55	DISEASES inferred ¹⁵
17	DZANK1	Double Zinc Ribbon And Ankyrin Repeat Domains 1	Protein Coding	5.45	DISEASES inferred ¹⁵
18	IFT80	Intraflagellar Transport 80	Protein Coding	5.28	DISEASES inferred ¹⁵
19	TTC21B	Tetratricopeptide Repeat Domain 21B	Protein Coding	5.13	DISEASES inferred ¹⁵
20	IQCB1	IQ Motif Containing B1	Protein Coding	5.09	DISEASES inferred ¹⁵
21	ALMS1	ALMS1 Centrosome And Basal Body Associated Protein	Protein Coding	5.04	DISEASES inferred ¹⁵
22	KIAA0586	KIAA0586	Protein Coding	5.04	DISEASES inferred ¹⁵
23	B9D2	B9 Domain Containing 2	Protein Coding	5.02	DISEASES inferred ¹⁵
24	CNTLN	Centlein	Protein Coding	5.02	DISEASES inferred ¹⁵
25	B9D1	B9 Domain Containing 1	Protein Coding	4.96	DISEASES inferred ¹⁵

Sources

Variations for Joubert Syndrome 4

ClinVar genetic disease variations for Joubert Syndrome 4:

⁶ (show top 50) (show all 212)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2413C>T (p.Arg805Ter)	SNV	Pathogenic	1079	rs145665129	16:53679807-53679807	16:53645895-53645895
2	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1721del (p.Tyr574fs)	Deletion	Pathogenic	217691	rs863225216	16:53686878-53686878	16:53652966-53652966
3	RPGRIP1L	NM_015272.5(RPGRIP1L):c.3529C>T (p.Arg1177Ter)	SNV	Pathogenic	217694	rs778533826	16:53653024-53653024	16:53619112-53619112
4	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1709dup (p.Asp571fs)	Duplication	Pathogenic	188192	rs778149316	16:53686889-53686890	16:53652977-53652978
5	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1975T>C (p.Ser659Pro)	SNV	Pathogenic	1080	rs267607020	16:53686624-53686624	16:53652712-53652712
6	RPGRIP1L	NM_015272.5(RPGRIP1L):c.3701+1G>T	SNV	Pathogenic	217695	rs863225219	16:53644878-53644878	16:53610966-53610966
7	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1132del (p.Trp378fs)	Deletion	Pathogenic	217692	rs863225217	16:53698893-53698893	16:53664981-53664981
8	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1243+1G>A	SNV	Pathogenic	217693	rs863225218	16:53698781-53698781	16:53664869-53664869
9	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2305-1G>A	SNV	Pathogenic	217690	rs863225215	16:53679916-53679916	16:53646004-53646004
10	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2269del (p.Thr757fs)	Deletion	Pathogenic	1077	rs387906243	16:53682911-53682911	16:53648999-53648999
11	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2050C>T (p.Gln684Ter)	SNV	Pathogenic	1076	rs121918204	16:53686549-53686549	16:53652637-53652637
12	RPGRIP1L	RPGRIP1L, 1-BP DEL, 1721A	Deletion	Pathogenic	1075
13	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2083G>C (p.Ala695Pro)	SNV	Pathogenic	1071	rs121918200	16:53686516-53686516	16:53652604-53652604
14	RPGRIP1L	NM_015272.5(RPGRIP1L):c.757C>T (p.Gln253Ter)	SNV	Pathogenic	1070	rs121918199	16:53720364-53720364	16:53686452-53686452
15	RPGRIP1L	NM_015272.5(RPGRIP1L):c.697A>T (p.Lys233Ter)	SNV	Pathogenic	1068	rs121918197	16:53720424-53720424	16:53686512-53686512
16	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1843A>C (p.Thr615Pro)	SNV	Pathogenic	1069	rs121918198	16:53686756-53686756	16:53652844-53652844
17	NPHP1	NPHP1, DEL	Deletion	Pathogenic	3511
18	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2050C>T (p.Gln684Ter)	SNV	Pathogenic	1076	rs121918204	16:53686549-53686549	16:53652637-53652637
19	RPGRIP1L	NM_015272.5(RPGRIP1L):c.118C>T (p.Gln40Ter)	SNV	Pathogenic	438669	rs1555616593	16:53730175-53730175	16:53696263-53696263
20	NPHP1	NM_001128178.3(NPHP1):c.555del (p.Lys185fs)	Deletion	Pathogenic	638899	rs766524637	2:110926098-110926098	2:110168521-110168521
21	RPGRIP1L	NM_015272.5(RPGRIP1L):c.751C>T (p.Arg251Ter)	SNV	Likely pathogenic	931822		16:53720370-53720370	16:53686458-53686458
22	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1804C>T (p.Arg602Ter)	SNV	Likely pathogenic	931963		16:53686795-53686795	16:53652883-53652883
23	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2560C>T (p.Arg854Ter)	SNV	Likely pathogenic	931964		16:53679660-53679660	16:53645748-53645748
24	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2614C>T (p.Gln872Ter)	SNV	Likely pathogenic	1074	rs121918203	16:53679606-53679606	16:53645694-53645694
25	RPGRIP1L	NM_015272.5(RPGRIP1L):c.3594G>A (p.Trp1198Ter)	SNV	Likely pathogenic	635022	rs1567800920	16:53652959-53652959	16:53619047-53619047
26	RPGRIP1L	NM_015272.5(RPGRIP1L):c.3297_3298TC[3] (p.Ala1101fs)	Microsatellite	Likely pathogenic	208609	rs797045104	16:53656262-53656263	16:53622350-53622351
27	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1158dup (p.Val387fs)	Duplication	Likely pathogenic	212060	rs797045918	16:53698866-53698867	16:53664954-53664955
28	RPGRIP1L	NM_015272.5(RPGRIP1L):c.*270G>A	SNV	Uncertain significance	319641	rs549065732	16:53635718-53635718	16:53601806-53601806
29	RPGRIP1L	NM_015272.5(RPGRIP1L):c.-7-10T>C	SNV	Uncertain significance	319671	rs886052099	16:53734652-53734652	16:53700740-53700740
30	NPHP1	NM_000272.4(NPHP1):c.1637G>A (p.Arg546Lys)	SNV	Uncertain significance	330730	rs149887461	2:110901179-110901179	2:110143602-110143602
31	RPGRIP1L	NM_015272.5(RPGRIP1L):c.3839T>C (p.Phe1280Ser)	SNV	Uncertain significance	319647	rs377402117	16:53636097-53636097	16:53602185-53602185
32	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1736A>G (p.Tyr579Cys)	SNV	Uncertain significance	235333	rs148230131	16:53686863-53686863	16:53652951-53652951
33	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2565C>T (p.Tyr855=)	SNV	Uncertain significance	319656	rs886052096	16:53679655-53679655	16:53645743-53645743
34	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1682G>A (p.Arg561His)	SNV	Uncertain significance	286978	rs147366111	16:53690401-53690401	16:53656489-53656489
35	RPGRIP1L	NM_015272.5(RPGRIP1L):c.*626A>C	SNV	Uncertain significance	319636	rs886052089	16:53635362-53635362	16:53601450-53601450
36	RPGRIP1L	NM_015272.5(RPGRIP1L):c.*269C>T	SNV	Uncertain significance	319642	rs190566840	16:53635719-53635719	16:53601807-53601807
37	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2682A>G (p.Ser894=)	SNV	Uncertain significance	319655	rs141608712	16:53679538-53679538	16:53645626-53645626
38	NPHP1	NM_000272.4(NPHP1):c.1121C>T (p.Thr374Ile)	SNV	Uncertain significance	287345	rs140469160	2:110919181-110919181	2:110161604-110161604
39	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2414G>A (p.Arg805Gln)	SNV	Uncertain significance	319658	rs532412372	16:53679806-53679806	16:53645894-53645894
40	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2537T>C (p.Val846Ala)	SNV	Uncertain significance	319657	rs750235612	16:53679683-53679683	16:53645771-53645771
41	RPGRIP1L	NM_015272.5(RPGRIP1L):c.*418G>A	SNV	Uncertain significance	319639	rs886052090	16:53635570-53635570	16:53601658-53601658
42	NPHP1	NM_000272.4(NPHP1):c.2100C>T (p.Gly700=)	SNV	Uncertain significance	330727	rs200631256	2:110881470-110881470	2:110123893-110123893
43	NPHP1	NM_000272.4(NPHP1):c.593A>G (p.Asn198Ser)	SNV	Uncertain significance	330737	rs886054756	2:110926060-110926060	2:110168483-110168483
44	NPHP1	NM_000272.4(NPHP1):c.969G>A (p.Thr323=)	SNV	Uncertain significance	330734	rs141763330	2:110920683-110920683	2:110163106-110163106
45	RPGRIP1L	NM_015272.5(RPGRIP1L):c.3312C>T (p.Pro1104=)	SNV	Uncertain significance	260604	rs568801926	16:53656251-53656251	16:53622339-53622339
46	NPHP1	NM_000272.4(NPHP1):c.*250C>T	SNV	Uncertain significance	330726	rs150558683	2:110881118-110881118	2:110123541-110123541
47	RPGRIP1L	NM_015272.5(RPGRIP1L):c.*1309C>A	SNV	Uncertain significance	319628	rs145688896	16:53634679-53634679	16:53600767-53600767
48	NPHP1	NM_000272.4(NPHP1):c.*322A>G	SNV	Uncertain significance	330725	rs886054752	2:110881046-110881046	2:110123469-110123469
49	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2201G>A (p.Arg734Gln)	SNV	Uncertain significance	319660	rs117364872	16:53682979-53682979	16:53649067-53649067
50	RPGRIP1L	NM_015272.5(RPGRIP1L):c.*980T>C	SNV	Uncertain significance	319631	rs886052087	16:53635008-53635008	16:53601096-53601096

Sources

Expression for Joubert Syndrome 4

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

Sources

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	12.75	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

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	cytoplasm	GO:0005737	10.41	TTC21B TMEM67 TMEM216 TCTN2 TCTN1 RPGRIP1L
2	centrosome	GO:0005813	10.09	TMEM67 RPGRIP1L OFD1 NPHP4 MKS1 IQCB1
3	cilium	GO:0005929	10.06	TTC21B TMEM67 TMEM237 TMEM216 RPGRIP1L OFD1
4	microtubule organizing center	GO:0005815	9.97	RPGRIP1L OFD1 NPHP4 MKS1 IQCB1 CEP290
5	ciliary basal body	GO:0036064	9.97	RPGRIP1L OFD1 NPHP4 MKS1 KIF7 IFT80
6	ciliary transition zone	GO:0035869	9.96	TMEM67 TMEM237 TMEM216 TCTN2 TCTN1 RPGRIP1L
7	centriole	GO:0005814	9.93	OFD1 MKS1 IQCB1 CEP290 CCDC120 AHI1
8	MKS complex	GO:0036038	9.92	TMEM67 TMEM216 TCTN2 TCTN1 MKS1 CEP290
9	cytoskeleton	GO:0005856	9.89	TTC21B TMEM67 TMEM216 TCTN2 TCTN1 RPGRIP1L
10	photoreceptor connecting cilium	GO:0032391	9.88	TMEM237 RPGRIP1L NPHP4 NPHP1 IQCB1 CEP290
11	cell-cell junction	GO:0005911	9.84	RPGRIP1L NPHP4 NPHP1 AHI1
12	motile cilium	GO:0031514	9.74	OFD1 NPHP1 ARL13B
13	bicellular tight junction	GO:0005923	9.73	RPGRIP1L NPHP4 NPHP1
14	ciliary membrane	GO:0060170	9.72	TMEM67 TCTN2 ARL13B
15	ciliary tip	GO:0097542	9.7	TTC21B KIF7 IFT80
16	non-motile cilium	GO:0097730	9.69	NPHP4 ARL13B AHI1
17	cell projection	GO:0042995	9.58	TTC21B TMEM67 TMEM237 TMEM216 TCTN2 TCTN1

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

(show all 18)

#	Name	GO ID	Score	Top Affiliating Genes
1	cell projection organization	GO:0030030	9.93	TMEM67 TMEM237 TMEM216 TCTN2 TCTN1 OFD1
2	smoothened signaling pathway	GO:0007224	9.77	TTC21B TCTN2 IFT80 CC2D2A ARL13B
3	ciliary basal body-plasma membrane docking	GO:0097711	9.77	TMEM67 TMEM216 TCTN2 TCTN1 RPGRIP1L OFD1
4	determination of left/right symmetry	GO:0007368	9.73	RPGRIP1L MKS1 CC2D2A ARL13B
5	non-motile cilium assembly	GO:1905515	9.73	TMEM216 RPGRIP1L MKS1 IFT80 CC2D2A ARL13B
6	regulation of smoothened signaling pathway	GO:0008589	9.71	TTC21B TCTN1 RPGRIP1L MKS1
7	protein localization to ciliary transition zone	GO:1904491	9.62	TCTN2 TCTN1 NPHP4 CC2D2A
8	motile cilium assembly	GO:0044458	9.58	MKS1 CC2D2A
9	hindbrain development	GO:0030902	9.57	CEP290 AHI1
10	head development	GO:0060322	9.56	RPGRIP1L MKS1
11	embryonic brain development	GO:1990403	9.55	MKS1 CC2D2A
12	left/right axis specification	GO:0070986	9.54	ARL13B AHI1
13	photoreceptor cell outer segment organization	GO:0035845	9.52	NPHP4 AHI1
14	positive regulation of bicellular tight junction assembly	GO:1903348	9.51	NPHP4 NPHP1
15	neural tube patterning	GO:0021532	9.49	RPGRIP1L ARL13B
16	receptor localization to non-motile cilium	GO:0097500	9.48	IFT80 ARL13B
17	cilium assembly	GO:0060271	9.47	TMEM67 TMEM237 TMEM216 TCTN2 TCTN1 RPGRIP1L
18	visual behavior	GO:0007632	9.46	NPHP4 NPHP1

Sources

Sources for Joubert Syndrome 4

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

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⁹ Cosmic

¹⁰ dbSNP

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¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

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²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

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 MedlinePlus Genetics

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 NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

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 4 (JBTS4)

Aliases & Classifications for Joubert Syndrome 4

MalaCards integrated aliases for Joubert Syndrome 4:

Characteristics:

Orphanet epidemiological data:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Joubert Syndrome 4

Related Diseases for Joubert Syndrome 4

Diseases in the Joubert Syndrome 1 family:

Diseases related to Joubert Syndrome 4 via text searches within MalaCards or GeneCards Suite gene sharing:

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

Symptoms & Phenotypes for Joubert Syndrome 4

Human phenotypes related to Joubert Syndrome 4:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

UMLS symptoms related to Joubert Syndrome 4:

MGI Mouse Phenotypes related to Joubert Syndrome 4:

Drugs & Therapeutics for Joubert Syndrome 4

Cochrane evidence based reviews: joubert syndrome 4

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Genetic tests related to Joubert Syndrome 4:

Anatomical Context for Joubert Syndrome 4

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Publications for Joubert Syndrome 4

Articles related to Joubert Syndrome 4:

Genes for Joubert Syndrome 4

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

Variations for Joubert Syndrome 4

ClinVar genetic disease variations for Joubert Syndrome 4:

Expression for Joubert Syndrome 4

Pathways for Joubert Syndrome 4

Pathways related to Joubert Syndrome 4 according to GeneCards Suite gene sharing:

GO Terms for Joubert Syndrome 4

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

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

Sources for Joubert Syndrome 4