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

JBTS4 MCID: JBR018 MIFTS: 51	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 orofaciodigital syndrome v 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 global developmental delay

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 101)

#	Related Disease	Score	Top Affiliating Genes
1	orofaciodigital syndrome v	10.5	TCTN1 OFD1
2	orofaciodigital syndrome i	10.4	OFD1 CEP290
3	meckel syndrome, type 7	10.4	TMEM216 CC2D2A
4	juvenile nephronophthisis	10.4	NPHP4 NPHP1
5	cone-rod dystrophy 13	10.4	RPGRIP1L NPHP4
6	orofaciodigital syndrome iv	10.4	TMEM216 OFD1
7	simpson-golabi-behmel syndrome, type 2	10.4	OFD1 CEP290
8	joubert syndrome 20	10.4	TMEM237 NPHP4
9	oculomotor apraxia	10.4	NPHP1 ARL13B AHI1
10	retinal aplasia	10.4	NPHP4 NPHP1 CEP290
11	nephronophthisis 13	10.3	NPHP4 NPHP1 CEP290
12	nephronophthisis 18	10.3	NPHP4 NPHP1
13	nephronophthisis 12	10.3	NPHP4 NPHP1 CEP290
14	leber congenital amaurosis 6	10.3	MKS1 CEP290
15	cerebellar hypoplasia	10.3	TMEM67 RPGRIP1L CC2D2A
16	joubert syndrome 14	10.3	TMEM237 TMEM216 NPHP4
17	nephronophthisis 15	10.3	NPHP4 NPHP1
18	congenital hepatic fibrosis	10.3	TMEM67 RPGRIP1L CC2D2A AHI1
19	oligohydramnios	10.3	TMEM67 MKS1 CC2D2A
20	joubert syndrome 15	10.3	TMEM237 RPGRIP1L NPHP4 NPHP1
21	arima syndrome	10.2	TMEM237 TMEM216 CEP290 CC2D2A
22	johanson-blizzard syndrome	10.2	TMEM216 RPGRIP1L CEP290 CC2D2A
23	nephronophthisis 1	10.2	NPHP4 NPHP1 APPL1 AHI1
24	bardet-biedl syndrome 10	10.2	TMEM216 BBS2
25	bardet-biedl syndrome 17	10.2	MKS1 BBS2
26	leber congenital amaurosis 3	10.2	NPHP4 CEP290
27	orofaciodigital syndrome ix	10.2	DZANK1 CCDC120
28	bardet-biedl syndrome 13	10.2	MKS1 CEP290 BBS2
29	bardet-biedl syndrome 11	10.2	MKS1 CEP290 BBS2
30	bardet-biedl syndrome 8	10.2	MKS1 CEP290 BBS2
31	ciliopathy	10.2	TMEM67 RPGRIP1L NPHP4 KIF7
32	bardet-biedl syndrome 3	10.2	MKS1 CEP290 BBS2
33	encephalocele	10.2	TMEM67 MKS1 CEP290 CC2D2A
34	retinitis pigmentosa 28	10.2	OFD1 CEP290
35	cone-rod dystrophy 20	10.2	DZANK1 CCDC120
36	bardet-biedl syndrome 1	10.1	TMEM216 NPHP1 KIF7 BBS2
37	joubert syndrome 23	10.1	DZANK1 CCDC120
38	kidney disease	10.1	TMEM67 NPHP4 NPHP1 CEP290 AHI1
39	bardet-biedl syndrome 18	10.1	MKS1 BBS2
40	seckel syndrome 7	10.1	DZANK1 CCDC120
41	polycystic kidney disease 2 with or without polycystic liver disease	10.1	TMEM67 NPHP4 MKS1 ARL13B
42	nephronophthisis 4	10.1	NPHP4 NPHP1
43	bardet-biedl syndrome 6	10.1	RPGRIP1L MKS1 CEP290 BBS2
44	retinitis pigmentosa 54	10.1	DZANK1 CCDC120 CC2D2A
45	retinal degeneration	10.1	TMEM67 RPGRIP1L NPHP4 NPHP1 CEP290
46	cogan syndrome	10.0	NPHP4 NPHP1 CEP290 APPL1 AHI1
47	renal-hepatic-pancreatic dysplasia	10.0	OFD1 NPHP4 NPHP1 KIF7 CEP290
48	cone-rod dystrophy 16	10.0	DZANK1 CCDC120
49	pathologic nystagmus	10.0	TMEM67 MKS1 KIF7 CEP290 AHI1
50	nephronophthisis 19	10.0	TMEM67 RPGRIP1L NPHP4 NPHP1 CEP290 AHI1

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 45)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	intellectual disability ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001249
2	global developmental delay ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001263
3	muscular hypotonia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001252
4	nephropathy ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000112
5	ataxia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001251
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	molar tooth sign on mri ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002419
9	oculomotor apraxia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000657
10	gait disturbance ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001288
11	feeding difficulties ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0011968
12	nystagmus ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000639
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	scoliosis ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002650
17	hydrocephalus ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000238
18	anteverted nares ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000463
19	renal insufficiency ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000083
20	tremor ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001337
21	strabismus ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000486
22	cleft palate ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000175
23	ptosis ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000508
24	aganglionic megacolon ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002251
25	iris coloboma ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000612
26	highly arched eyebrow ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002553
27	prominent nasal bridge ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000426
28	hand polydactyly ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001161
29	agenesis of corpus callosum ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001274
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	cognitive impairment ³¹			HP:0100543
37	malformation of the heart and great vessels ⁵⁸		Occasional (29-5%)
38	abnormal pattern of respiration ⁵⁸		Very frequent (99-80%)
39	nephronophthisis ³¹			HP:0000090
40	oral cleft ⁵⁸		Occasional (29-5%)
41	delayed gross motor development ³¹			HP:0002194
42	generalized hypotonia ³¹			HP:0001290
43	hypometric saccades ³¹			HP:0000571
44	elongated superior cerebellar peduncle ³¹			HP:0011933
45	thickened superior cerebellar peduncle ³¹			HP:0002404

Symptoms via clinical synopsis from OMIM:

⁵⁶

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

Genitourinary Kidneys:
nephronophthisis
renal failure
tubulointerstitial medullary cystic kidney disease

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

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	10.4	AHI1 APPL1 ARL13B BBS2 CC2D2A CEP290
2	cardiovascular system	MP:0005385	10.25	APPL1 CC2D2A CEP290 KIF7 MKS1 NPHP4
3	growth/size/body region	MP:0005378	10.22	AHI1 APPL1 ARL13B BBS2 CC2D2A CEP290
4	mortality/aging	MP:0010768	10.17	AHI1 APPL1 ARL13B CC2D2A CEP290 DZANK1
5	craniofacial	MP:0005382	10.13	CC2D2A CEP290 IFT80 KIF7 MKS1 OFD1
6	nervous system	MP:0003631	10.13	AHI1 ARL13B BBS2 CC2D2A CEP290 KIF7
7	embryo	MP:0005380	10.09	ARL13B CC2D2A KIF7 MKS1 OFD1 RPGRIP1L
8	limbs/digits/tail	MP:0005371	10.07	BBS2 CC2D2A IFT80 KIF7 MKS1 OFD1
9	digestive/alimentary	MP:0005381	10.06	BBS2 CC2D2A KIF7 MKS1 OFD1 RPGRIP1L
10	renal/urinary system	MP:0005367	9.93	AHI1 ARL13B BBS2 CC2D2A CEP290 IFT80
11	respiratory system	MP:0005388	9.5	ARL13B CC2D2A CEP290 KIF7 MKS1 OFD1
12	vision/eye	MP:0005391	9.44	AHI1 ARL13B BBS2 CC2D2A CEP290 DZANK1

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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

Kidney, Eye, Brain, 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. ⁶ ⁵⁶	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 25)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	NPHP1	Nephrocystin 1	Protein Coding	1375.96	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation ⁵⁸ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	16155189 15138899 9856524 (more) 10712196 9326933 20301500 8852662 21448235
2	RPGRIP1L	RPGRIP1 Like	Protein Coding	357.12	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁵
3	TMEM237	Transmembrane Protein 237	Protein Coding	350	Causative germline mutation ⁵⁸
4	AHI1	Abelson Helper Integration Site 1	Protein Coding	7.26	DISEASES inferred ¹⁵
5	CEP290	Centrosomal Protein 290	Protein Coding	7.2	DISEASES inferred ¹⁵
6	TMEM67	Transmembrane Protein 67	Protein Coding	6.99	DISEASES inferred ¹⁵
7	CC2D2A	Coiled-Coil And C2 Domain Containing 2A	Protein Coding	6.74	DISEASES inferred ¹⁵
8	ARL13B	ADP Ribosylation Factor Like GTPase 13B	Protein Coding	6.27	DISEASES inferred ¹⁵
9	TMEM216	Transmembrane Protein 216	Protein Coding	6.24	DISEASES inferred ¹⁵
10	KIF7	Kinesin Family Member 7	Protein Coding	6.12	DISEASES inferred ¹⁵
11	OFD1	OFD1 Centriole And Centriolar Satellite Protein	Protein Coding	6.08	DISEASES inferred ¹⁵
12	NPHP4	Nephrocystin 4	Protein Coding	6.04	DISEASES inferred ¹⁵
13	TCTN1	Tectonic Family Member 1	Protein Coding	5.87	DISEASES inferred ¹⁵
14	MKS1	MKS Transition Zone Complex Subunit 1	Protein Coding	5.68	DISEASES inferred ¹⁵
15	APPL1	Adaptor Protein, Phosphotyrosine Interacting With PH Domain And Leucine Zipper 1	Protein Coding	5.62	DISEASES inferred ¹⁵
16	TCTN2	Tectonic Family Member 2	Protein Coding	5.59	DISEASES inferred ¹⁵
17	BBS2	Bardet-Biedl Syndrome 2	Protein Coding	5.57	DISEASES inferred ¹⁵
18	DZANK1	Double Zinc Ribbon And Ankyrin Repeat Domains 1	Protein Coding	5.49	DISEASES inferred ¹⁵
19	CCDC120	Coiled-Coil Domain Containing 120	Protein Coding	5.37	DISEASES inferred ¹⁵
20	IFT80	Intraflagellar Transport 80	Protein Coding	5.33	DISEASES inferred ¹⁵
21	TTC21B	Tetratricopeptide Repeat Domain 21B	Protein Coding	5.18	DISEASES inferred ¹⁵
22	B9D2	B9 Domain Containing 2	Protein Coding	5.08	DISEASES inferred ¹⁵
23	KIAA0586	KIAA0586	Protein Coding	5.08	DISEASES inferred ¹⁵
24	ALMS1	ALMS1 Centrosome And Basal Body Associated Protein	Protein Coding	5.07	DISEASES inferred ¹⁵
25	CNTLN	Centlein	Protein Coding	5.06	DISEASES inferred ¹⁵

Sources

Variations for Joubert Syndrome 4

ClinVar genetic disease variations for Joubert Syndrome 4:

⁶ (show all 50) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	NPHP1	NPHP1, DEL	deletion	Pathogenic	3511
2		2q13 deletion	deletion	Pathogenic	217684
3	NPHP1	NM_000272.4(NPHP1):c.1121C>T (p.Thr374Ile)	SNV	Conflicting interpretations of pathogenicity	287345	rs140469160	2:110919181-110919181	2:110161604-110161604
4	NPHP1	NM_000272.4(NPHP1):c.971T>C (p.Met324Thr)	SNV	Conflicting interpretations of pathogenicity	288369	rs114250691	2:110920681-110920681	2:110163104-110163104
5	NPHP1	NM_000272.3(NPHP1):c.625-3dup	duplication	Conflicting interpretations of pathogenicity	156395	rs200118387	2:110922740-110922740	2:110165157-110165158
6	NPHP1	NM_000272.4(NPHP1):c.232T>C (p.Tyr78His)	SNV	Conflicting interpretations of pathogenicity	167377	rs140446520	2:110936097-110936097	2:110178520-110178520
7	NPHP1	NM_000272.4(NPHP1):c.1035A>G (p.Gln345=)	SNV	Conflicting interpretations of pathogenicity	193569	rs371112962	2:110919267-110919267	2:110161690-110161690
8	NPHP1	NM_000272.4(NPHP1):c.1438-4C>T	SNV	Conflicting interpretations of pathogenicity	194327	rs151204566	2:110904416-110904416	2:110146839-110146839
9	NPHP1	NM_001128178.3(NPHP1):c.*194T>C	SNV	Conflicting interpretations of pathogenicity	894599		2:110881174-110881174	2:110123597-110123597
10	NPHP1	NM_000272.4(NPHP1):c.1637G>A (p.Arg546Lys)	SNV	Conflicting interpretations of pathogenicity	330730	rs149887461	2:110901179-110901179	2:110143602-110143602
11	NPHP1	NM_000272.4(NPHP1):c.456A>G (p.Ser152=)	SNV	Conflicting interpretations of pathogenicity	330738	rs143163969	2:110927449-110927449	2:110169872-110169872
12	NPHP1	NM_000272.4(NPHP1):c.969G>A (p.Thr323=)	SNV	Conflicting interpretations of pathogenicity	330734	rs141763330	2:110920683-110920683	2:110163106-110163106
13	NPHP1	NM_000272.4(NPHP1):c.593A>G (p.Asn198Ser)	SNV	Uncertain significance	330737	rs886054756	2:110926060-110926060	2:110168483-110168483
14	NPHP1	NM_000272.4(NPHP1):c.*250C>T	SNV	Uncertain significance	330726	rs150558683	2:110881118-110881118	2:110123541-110123541
15	NPHP1	NM_000272.4(NPHP1):c.988G>C (p.Gly330Arg)	SNV	Uncertain significance	330733	rs886054754	2:110920664-110920664	2:110163087-110163087
16	NPHP1	NM_000272.4(NPHP1):c.669C>T (p.Gly223=)	SNV	Uncertain significance	330736	rs886054755	2:110922688-110922688	2:110165111-110165111
17	NPHP1	NM_000272.4(NPHP1):c.1333C>T (p.Arg445Cys)	SNV	Uncertain significance	330732	rs375907280	2:110905597-110905597	2:110148020-110148020
18	NPHP1	NM_000272.4(NPHP1):c.1447G>C (p.Glu483Gln)	SNV	Uncertain significance	330731	rs886054753	2:110904403-110904403	2:110146826-110146826
19	NPHP1	NM_000272.4(NPHP1):c.860A>G (p.Asn287Ser)	SNV	Uncertain significance	330735	rs139787582	2:110922176-110922176	2:110164599-110164599
20	NPHP1	NM_001128178.3(NPHP1):c.1804C>G (p.His602Asp)	SNV	Uncertain significance	892573		2:110881598-110881598	2:110124021-110124021
21	NPHP1	NM_001128178.3(NPHP1):c.1693C>A (p.Pro565Thr)	SNV	Uncertain significance	894221		2:110886786-110886786	2:110129209-110129209
22	NPHP1	NM_001128178.3(NPHP1):c.1534C>T (p.Leu512=)	SNV	Uncertain significance	894222		2:110889364-110889364	2:110131787-110131787
23	NPHP1	NM_001128178.3(NPHP1):c.771+148G>T	SNV	Uncertain significance	894647		2:110922117-110922117	2:110164540-110164540
24	NPHP1	NM_001128178.3(NPHP1):c.352G>A (p.Glu118Lys)	SNV	Uncertain significance	894667		2:110927553-110927553	2:110169976-110169976
25	NPHP1	NM_001128178.3(NPHP1):c.240G>A (p.Gln80=)	SNV	Uncertain significance	894668		2:110936089-110936089	2:110178512-110178512
26	NPHP1	NM_001128178.3(NPHP1):c.137A>G (p.Tyr46Cys)	SNV	Uncertain significance	892675		2:110959004-110959004	2:110201427-110201427
27	NPHP1	NM_001128178.3(NPHP1):c.30C>T (p.Leu10=)	SNV	Uncertain significance	893477		2:110962516-110962516	2:110204939-110204939
28	NPHP1	NM_000272.4(NPHP1):c.940-5T>C	SNV	Uncertain significance	498608	rs201478764	2:110920717-110920717	2:110163140-110163140
29	NPHP1	NM_000272.4(NPHP1):c.1929+5A>C	SNV	Uncertain significance	566103	rs201030203	2:110883209-110883209	2:110125632-110125632
30	NPHP1	NM_000272.4(NPHP1):c.460G>A (p.Gly154Ser)	SNV	Uncertain significance	594808	rs769509705	2:110927445-110927445	2:110169868-110169868
31	NPHP1	NM_001128178.3(NPHP1):c.*238T>C	SNV	Uncertain significance	894188		2:110881130-110881130	2:110123553-110123553
32	NPHP1	NM_001128178.3(NPHP1):c.*199A>G	SNV	Uncertain significance	894189		2:110881169-110881169	2:110123592-110123592
33	NPHP1	NC_000002.12:g.110205022G>A	SNV	Uncertain significance	893777		2:110962599-110962599	2:110205022-110205022
34	NPHP1	NC_000002.12:g.110123331A>T	SNV	Uncertain significance	893357		2:110880908-110880908
35	NPHP1	NM_001128178.3(NPHP1):c.1717-5T>G	SNV	Uncertain significance	893387		2:110883263-110883263	2:110125686-110125686
36	NPHP1	NM_001128178.3(NPHP1):c.1716+15T>C	SNV	Uncertain significance	893388		2:110886748-110886748	2:110129171-110129171
37	NPHP1	NM_001128178.3(NPHP1):c.771+178C>T	SNV	Uncertain significance	894253		2:110922087-110922087	2:110164510-110164510
38	NPHP1	NM_000272.4(NPHP1):c.*322A>G	SNV	Uncertain significance	330725	rs886054752	2:110881046-110881046	2:110123469-110123469
39	NPHP1	NM_000272.4(NPHP1):c.2100C>T (p.Gly700=)	SNV	Uncertain significance	330727	rs200631256	2:110881470-110881470	2:110123893-110123893
40	NPHP1	NM_000272.4(NPHP1):c.1889C>T (p.Ser630Leu)	SNV	Uncertain significance	330728	rs138181219	2:110883254-110883254	2:110125677-110125677
41	NPHP1	NM_000272.4(NPHP1):c.1690G>C (p.Val564Leu)	SNV	Uncertain significance	330729	rs573192954	2:110901126-110901126	2:110143549-110143549
42	NPHP1	NM_000272.4(NPHP1):c.2029G>C (p.Glu677Gln)	SNV	Uncertain significance	216416	rs780427871	2:110881541-110881541	2:110123964-110123964
43	NPHP1	NM_001128178.3(NPHP1):c.-17G>A	SNV	Likely benign	893478		2:110962562-110962562	2:110204985-110204985
44	NPHP1	NM_000272.4(NPHP1):c.438T>C (p.Asn146=)	SNV	Benign/Likely benign	462708	rs548684868	2:110927467-110927467	2:110169890-110169890
45	NPHP1	NM_000272.4(NPHP1):c.689C>T (p.Ala230Val)	SNV	Benign/Likely benign	235470	rs113450177	2:110922668-110922668	2:110165091-110165091
46	NPHP1	NM_000272.4(NPHP1):c.830G>A (p.Arg277Gln)	SNV	Benign/Likely benign	198703	rs143174377	2:110922206-110922206	2:110164629-110164629
47	NPHP1	NM_000272.4(NPHP1):c.14G>T (p.Arg5Leu)	SNV	Benign/Likely benign	129814	rs190983114	2:110962532-110962532	2:110204955-110204955
48	NPHP1	NM_000272.4(NPHP1):c.810C>T (p.Cys270=)	SNV	Benign	129815	rs73954628	2:110922226-110922226	2:110164649-110164649
49	NPHP1	NM_000272.4(NPHP1):c.654G>A (p.Glu218=)	SNV	Benign	92719	rs11675767	2:110922703-110922703	2:110165126-110165126
50	NPHP1	NM_000272.4(NPHP1):c.115C>A (p.Pro39Thr)	SNV	Benign	129813	rs33958626	2:110959026-110959026	2:110201449-110201449

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	12.72	TMEM67 TMEM216 TCTN2 TCTN1 RPGRIP1L OFD1
2	Organelle biogenesis and maintenance ⁶⁵ Show member pathways Cilium Assembly ⁶⁵	12.23	TMEM67 TMEM216 TCTN2 TCTN1 RPGRIP1L OFD1
3	Signaling by Hedgehog ⁶⁵ Show member pathways Activation of SMO ⁶⁵ Hedgehog off' state ⁶⁵ Hedgehog on' state ⁶⁵	12	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 18)

#	Name	GO ID	Score	Top Affiliating Genes
1	cytoplasm	GO:0005737	10.39	TMEM67 TMEM216 TCTN2 TCTN1 RPGRIP1L OFD1
2	cytosol	GO:0005829	10.35	TMEM216 TCTN1 RPGRIP1L OFD1 NPHP4 NPHP1
3	centrosome	GO:0005813	10.03	TMEM67 RPGRIP1L OFD1 NPHP4 MKS1 IFT80
4	cilium	GO:0005929	10.03	TMEM67 TMEM237 TMEM216 RPGRIP1L OFD1 NPHP4
5	ciliary basal body	GO:0036064	10.02	RPGRIP1L OFD1 NPHP4 MKS1 KIF7 IFT80
6	microtubule organizing center	GO:0005815	9.99	RPGRIP1L OFD1 NPHP4 MKS1 CEP290 BBS2
7	MKS complex	GO:0036038	9.92	TMEM67 TMEM216 TCTN2 TCTN1 MKS1 CEP290
8	ciliary transition zone	GO:0035869	9.91	TMEM67 TMEM237 TMEM216 TCTN1 RPGRIP1L NPHP4
9	centriole	GO:0005814	9.88	OFD1 MKS1 CEP290 CCDC120 AHI1
10	cytoskeleton	GO:0005856	9.86	TMEM67 TMEM216 TCTN2 TCTN1 RPGRIP1L OFD1
11	cell-cell junction	GO:0005911	9.85	RPGRIP1L NPHP4 NPHP1 AHI1
12	motile cilium	GO:0031514	9.84	OFD1 NPHP1 BBS2 ARL13B
13	ciliary membrane	GO:0060170	9.8	TMEM67 TCTN2 BBS2 ARL13B
14	photoreceptor connecting cilium	GO:0032391	9.8	TMEM237 RPGRIP1L NPHP4 NPHP1 CEP290
15	bicellular tight junction	GO:0005923	9.75	RPGRIP1L NPHP4 NPHP1
16	non-motile cilium	GO:0097730	9.7	NPHP4 ARL13B AHI1
17	cell projection	GO:0042995	9.6	TMEM67 TMEM237 TMEM216 TCTN2 TCTN1 RPGRIP1L
18	9+0 non-motile cilium	GO:0097731	9.56	IFT80 ARL13B

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

(show all 19)

#	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	non-motile cilium assembly	GO:1905515	9.8	TMEM216 RPGRIP1L MKS1 IFT80 CC2D2A BBS2
3	cell projection organization	GO:0030030	9.73	TMEM67 TMEM237 TMEM216 TCTN2 TCTN1 OFD1
4	determination of left/right symmetry	GO:0007368	9.71	RPGRIP1L MKS1 CC2D2A ARL13B
5	smoothened signaling pathway	GO:0007224	9.67	TCTN2 IFT80 CC2D2A ARL13B
6	protein localization to ciliary transition zone	GO:1904491	9.62	TCTN2 TCTN1 NPHP4 CC2D2A
7	regulation of smoothened signaling pathway	GO:0008589	9.61	TCTN1 RPGRIP1L MKS1
8	motile cilium assembly	GO:0044458	9.58	MKS1 CC2D2A
9	axoneme assembly	GO:0035082	9.58	OFD1 CC2D2A
10	hindbrain development	GO:0030902	9.57	CEP290 AHI1
11	head development	GO:0060322	9.56	RPGRIP1L MKS1
12	embryonic brain development	GO:1990403	9.55	MKS1 CC2D2A
13	left/right axis specification	GO:0070986	9.54	ARL13B AHI1
14	photoreceptor cell outer segment organization	GO:0035845	9.52	NPHP4 AHI1
15	neural tube patterning	GO:0021532	9.51	RPGRIP1L ARL13B
16	positive regulation of bicellular tight junction assembly	GO:1903348	9.49	NPHP4 NPHP1
17	receptor localization to non-motile cilium	GO:0097500	9.48	IFT80 ARL13B
18	cilium assembly	GO:0060271	9.47	TMEM67 TMEM237 TMEM216 TCTN2 TCTN1 RPGRIP1L
19	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

⁶ ClinVar

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⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

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¹⁴ DiseaseEnhancer

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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 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

Genetic Tests for Joubert Syndrome 4

Genetic tests related to Joubert Syndrome 4:

Anatomical Context for Joubert Syndrome 4

MalaCards organs/tissues related to Joubert Syndrome 4:

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