Joubert Syndrome 7 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

JBTS7 MCID: JBR011 MIFTS: 46	Joubert Syndrome 7 (JBTS7) 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 7

MalaCards integrated aliases for Joubert Syndrome 7:

Name: Joubert Syndrome 7 ⁵⁷ ¹² ⁷³ ²⁹ ¹³ ⁶ ⁴⁴ ¹⁵ ⁷¹

Jbts7 ⁵⁷ ¹² ⁷³

Cerebello-Oculo-Renal Syndrome 3 ⁷³

Joubert Syndrome, Type 7 ³⁹

Cors3 ⁷³

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
genetic heterogeneity
renal phenotype worsens with age
see also meckel syndrome type 5 , an allelic disorder with a more severe phenotype

HPO:

³¹

joubert syndrome 7:
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)

External Ids:

Disease Ontology ¹² DOID:0111002

OMIM® ⁵⁷ 611560

OMIM Phenotypic Series ⁵⁷ PS213300

MeSH ⁴⁴ C566916 D002526 D005124 more

MedGen ⁴¹ C1969053

SNOMED-CT via HPO ⁶⁸ 111266001 11934000 193662007 more

UMLS ⁷¹ C1969053

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Summaries for Joubert Syndrome 7

UniProtKB/Swiss-Prot : ⁷³ Joubert syndrome 7: 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.

MalaCards based summary : Joubert Syndrome 7, also known as jbts7, is related to cone-rod dystrophy 13 and retinal ciliopathy, and has symptoms including ataxia An important gene associated with Joubert Syndrome 7 is RPGRIP1L (RPGRIP1 Like), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. Affiliated tissues include eye and brain, and related phenotypes are intellectual disability and scoliosis

Disease Ontology : ¹² A Joubert syndrome that has material basis in mutation in the RPGRIP1L gene on chromosome 16q12.2.

More information from OMIM: 611560 PS213300

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Related Diseases for Joubert Syndrome 7

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

(show top 50) (show all 96)

#	Related Disease	Score	Top Affiliating Genes
1	cone-rod dystrophy 13	10.3	RPGRIP1L RPGRIP1
2	retinal ciliopathy	10.2	RPGRIP1 CEP290
3	leber congenital amaurosis 10	10.2	RPGRIP1 CEP290
4	leber congenital amaurosis 3	10.2	RPGRIP1 CEP290
5	leber congenital amaurosis 4	10.2	RPGRIP1 CEP290
6	caroli disease	10.2	PKD2 NPHP1
7	nephronophthisis 4	10.2	RPGRIP1 NPHP1
8	retinal aplasia	10.1	NPHP1 CEP290
9	alstrom syndrome	10.1	RPGRIP1L CEP290
10	renal-hepatic-pancreatic dysplasia	10.1	NPHP1 CEP290
11	polycystic liver disease 1 with or without kidney cysts	10.1	PKD2 NPHP1
12	oculomotor apraxia	10.1	NPHP1 AHI1
13	joubert syndrome 15	10.0	RPGRIP1L NPHP1 CC2D2A
14	orofaciodigital syndrome	10.0	TMEM67 TMEM216 CEP290
15	enophthalmos	10.0	CEP290 AHI1
16	bardet-biedl syndrome 13	10.0	MKS1 CEP290
17	bardet-biedl syndrome 16	10.0	MKS1 CEP290
18	bardet-biedl syndrome 8	10.0	MKS1 CEP290
19	arima syndrome	9.9	TMEM216 CEP290 CC2D2A
20	congenital hepatic fibrosis	9.9	TMEM67 RPGRIP1L CC2D2A AHI1
21	bardet-biedl syndrome 11	9.9	RPGRIP1L MKS1 CEP290
22	bardet-biedl syndrome 6	9.9	RPGRIP1L MKS1 CEP290
23	leber congenital amaurosis 6	9.9	RPGRIP1 MKS1 CEP290
24	oligohydramnios	9.9	TMEM67 MKS1 CC2D2A
25	juvenile nephronophthisis	9.9	TMEM67 NPHP1 CEP290
26	nephronophthisis 16	9.9	TMEM67 RPGRIP1L NPHP1 CEP290
27	bardet-biedl syndrome 3	9.9	MKS1 CEP290
28	leber congenital amaurosis 2	9.9	RPGRIP1 CEP290
29	short-rib thoracic dysplasia 6 with or without polydactyly	9.9	TRAF3IP1 TMEM67 TMEM216
30	cone dystrophy	9.9	RPGRIP1 CEP290 CC2D2A
31	johanson-blizzard syndrome	9.8	TMEM216 RPGRIP1L CEP290 CC2D2A
32	retinitis pigmentosa 2	9.8	CEP290 ARL13B
33	acrocallosal syndrome	9.8	TMEM216 RPGRIP1L NPHP1 AHI1
34	pathologic nystagmus	9.7	TMEM67 RPGRIP1 MKS1 CEP290
35	retinal degeneration	9.7	TMEM67 RPGRIP1L RPGRIP1 NPHP1 CEP290
36	nephronophthisis 19	9.7	TMEM67 RPGRIP1L NPHP1 CEP290 AHI1
37	cogan syndrome	9.7	RPGRIP1L NPHP1 CEP290 CC2D2A AHI1
38	polycystic kidney disease 2 with or without polycystic liver disease	9.6	TMEM67 PKD2 MKS1 ARL13B
39	apraxia	9.6	TMEM67 NPHP1 CEP290 CC2D2A AHI1
40	polycystic kidney disease	9.6	TMEM67 PKD2 MKS1 CEP290 CC2D2A
41	physical disorder	9.6	TMEM67 MKS1 CEP290 ARL13B
42	ciliopathy	9.6	TMEM67 RPGRIP1L MKS1 CEP290 CC2D2A
43	nephronophthisis 12	9.6	RPGRIP1L NPHP1 CEP290 B9D2
44	joubert syndrome 24	9.6	RPGRIP1L NPHP1 CEP290 ARL13B AHI1
45	joubert syndrome 14	9.5	TMEM216 RPGRIP1L NPHP1 B9D2
46	kidney disease	9.5	TMEM67 PKD2 NPHP1 CEP290 CC2D2A AHI1
47	eye disease	9.5	TRAF3IP1 RPGRIP1 NPHP1 CEP290 AHI1
48	nephronophthisis 11	9.5	TMEM67 TMEM216 RPGRIP1L NPHP1 CEP290 CC2D2A
49	bardet-biedl syndrome 1	9.4	TMEM67 TMEM216 NPHP1 MKS1 CEP290
50	ellis-van creveld syndrome	9.4	TRAF3IP1 TMEM216 RPGRIP1L CEP290 ARL13B

Graphical network of the top 20 diseases related to Joubert Syndrome 7:

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Symptoms & Phenotypes for Joubert Syndrome 7

Human phenotypes related to Joubert Syndrome 7:

³¹ (show all 20)

#	Description	HPO Source Accession
1	intellectual disability ³¹	HP:0001249
2	scoliosis ³¹	HP:0002650
3	ptosis ³¹	HP:0000508
4	nystagmus ³¹	HP:0000639
5	ataxia ³¹	HP:0001251
6	global developmental delay ³¹	HP:0001263
7	nephronophthisis ³¹	HP:0000090
8	postaxial hand polydactyly ³¹	HP:0001162
9	encephalocele ³¹	HP:0002084
10	retinal dystrophy ³¹	HP:0000556
11	molar tooth sign on mri ³¹	HP:0002419
12	renal cyst ³¹	HP:0000107
13	oculomotor apraxia ³¹	HP:0000657
14	generalized hypotonia ³¹	HP:0001290
15	central apnea ³¹	HP:0002871
16	episodic tachypnea ³¹	HP:0002876
17	abnormal corpus callosum morphology ³¹	HP:0001273
18	brainstem dysplasia ³¹	HP:0002508
19	hypoplasia of the brainstem ³¹	HP:0002365
20	neonatal breathing dysregulation ³¹	HP:0002790

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Skeletal Spine:
scoliosis

Neurologic Central Nervous System:
ataxia
encephalocele
hypoplasia of the brainstem
hypotonia
mental retardation
more

Respiratory:
central apnea
neonatal breathing dysregulation
hyperpnea, episodic
tachypnea, episodic

Head And Neck Eyes:
ptosis
nystagmus
oculomotor apraxia
abnormal eye movements
retinal dystrophy (less common)

Genitourinary Kidneys:
nephronophthisis
renal cysts
impaired renal function

Skeletal Hands:
polydactyly, postaxial

Clinical features from OMIM®:

611560 (Updated 05-Mar-2021)

UMLS symptoms related to Joubert Syndrome 7:

ataxia

MGI Mouse Phenotypes related to Joubert Syndrome 7:

⁴⁶ (show all 11)

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cellular	MP:0005384	10.24	AHI1 ARL13B B9D2 CC2D2A CEP290 MKS1
2	embryo	MP:0005380	10.03	ARL13B B9D2 CC2D2A MKS1 PKD2 RPGRIP1L
3	mortality/aging	MP:0010768	10.02	AHI1 ARL13B B9D2 CC2D2A CEP290 MKS1
4	nervous system	MP:0003631	10	AHI1 ARL13B B9D2 CC2D2A CEP290 MKS1
5	craniofacial	MP:0005382	9.95	B9D2 CC2D2A CEP290 MKS1 RPGRIP1L TMEM67
6	digestive/alimentary	MP:0005381	9.93	B9D2 CC2D2A MKS1 PKD2 RPGRIP1L TMEM67
7	limbs/digits/tail	MP:0005371	9.88	B9D2 CC2D2A MKS1 RPGRIP1L TMEM67 TRAF3IP1
8	liver/biliary system	MP:0005370	9.85	B9D2 CEP290 MKS1 PKD2 RPGRIP1L TMEM67
9	renal/urinary system	MP:0005367	9.85	AHI1 ARL13B B9D2 CC2D2A CEP290 MKS1
10	respiratory system	MP:0005388	9.5	ARL13B B9D2 CC2D2A CEP290 MKS1 PKD2
11	vision/eye	MP:0005391	9.32	AHI1 ARL13B B9D2 CC2D2A CEP290 MKS1

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Drugs & Therapeutics for Joubert Syndrome 7

Search Clinical Trials , NIH Clinical Center for Joubert Syndrome 7

Cochrane evidence based reviews: joubert syndrome 7

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Genetic Tests for Joubert Syndrome 7

Genetic tests related to Joubert Syndrome 7:

#	Genetic test	Affiliating Genes
1	Joubert Syndrome 7 ²⁹	RPGRIP1L

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Anatomical Context for Joubert Syndrome 7

MalaCards organs/tissues related to Joubert Syndrome 7:

⁴⁰

Eye, Brain

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Publications for Joubert Syndrome 7

Articles related to Joubert Syndrome 7:

#	Title	Authors	PMID	Year
1	RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders. ⁶ ⁵⁷	Brancati F...Valente EM	18565097	2008
2	Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. ⁶ ⁵⁷	Arts HH...Roepman R	17558407	2007
3	The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. ⁶ ⁵⁷	Delous M...Saunier S	17558409	2007

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Genes for Joubert Syndrome 7

Genes related to Joubert Syndrome 7 (1 elite genes):

(show all 13)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	RPGRIP1L	RPGRIP1 Like	Protein Coding	1352.2	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	17558409
2	RPGRIP1	RPGR Interacting Protein 1	Protein Coding	13.3	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
3	PKD2	Polycystin 2, Transient Receptor Potential Cation Channel	Protein Coding	10.78	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
4	TMEM67	Transmembrane Protein 67	Protein Coding	7.36	DISEASES inferred ¹⁵
5	CC2D2A	Coiled-Coil And C2 Domain Containing 2A	Protein Coding	7.33	DISEASES inferred ¹⁵
6	CEP290	Centrosomal Protein 290	Protein Coding	7.26	DISEASES inferred ¹⁵
7	AHI1	Abelson Helper Integration Site 1	Protein Coding	6.9	DISEASES inferred ¹⁵
8	NPHP1	Nephrocystin 1	Protein Coding	6.83	DISEASES inferred ¹⁵
9	TMEM216	Transmembrane Protein 216	Protein Coding	6.75	DISEASES inferred ¹⁵
10	ARL13B	ADP Ribosylation Factor Like GTPase 13B	Protein Coding	6.66	DISEASES inferred ¹⁵
11	MKS1	MKS Transition Zone Complex Subunit 1	Protein Coding	6.24	DISEASES inferred ¹⁵
12	B9D2	B9 Domain Containing 2	Protein Coding	6.13	DISEASES inferred ¹⁵
13	TRAF3IP1	TRAF3 Interacting Protein 1	Protein Coding	5.94	DISEASES inferred ¹⁵

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Variations for Joubert Syndrome 7

ClinVar genetic disease variations for Joubert Syndrome 7:

⁶ (show top 50) (show all 159)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2305-1G>A	SNV	Pathogenic	217690	rs863225215	16:53679916-53679916	16:53646004-53646004
2	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1243+1G>A	SNV	Pathogenic	217693	rs863225218	16:53698781-53698781	16:53664869-53664869
3	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2413C>T (p.Arg805Ter)	SNV	Pathogenic	1079	rs145665129	16:53679807-53679807	16:53645895-53645895
4	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1721del (p.Tyr574fs)	Deletion	Pathogenic	217691	rs863225216	16:53686878-53686878	16:53652966-53652966
5	RPGRIP1L	NM_015272.5(RPGRIP1L):c.3529C>T (p.Arg1177Ter)	SNV	Pathogenic	217694	rs778533826	16:53653024-53653024	16:53619112-53619112
6	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1709dup (p.Asp571fs)	Duplication	Pathogenic	188192	rs778149316	16:53686889-53686890	16:53652977-53652978
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.1975T>C (p.Ser659Pro)	SNV	Pathogenic	1080	rs267607020	16:53686624-53686624	16:53652712-53652712
9	RPGRIP1L	NM_015272.5(RPGRIP1L):c.3701+1G>T	SNV	Pathogenic	217695	rs863225219	16:53644878-53644878	16:53610966-53610966
10	RPGRIP1L	NM_015272.5(RPGRIP1L):c.697A>T (p.Lys233Ter)	SNV	Pathogenic	1068	rs121918197	16:53720424-53720424	16:53686512-53686512
11	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1843A>C (p.Thr615Pro)	SNV	Pathogenic	1069	rs121918198	16:53686756-53686756	16:53652844-53652844
12	RPGRIP1L	NM_015272.5(RPGRIP1L):c.757C>T (p.Gln253Ter)	SNV	Pathogenic	1070	rs121918199	16:53720364-53720364	16:53686452-53686452
13	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2083G>C (p.Ala695Pro)	SNV	Pathogenic	1071	rs121918200	16:53686516-53686516	16:53652604-53652604
14	RPGRIP1L	RPGRIP1L, 1-BP DEL, 1721A	Deletion	Pathogenic	1075
15	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2050C>T (p.Gln684Ter)	SNV	Pathogenic	1076	rs121918204	16:53686549-53686549	16:53652637-53652637
16	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2269del (p.Thr757fs)	Deletion	Pathogenic	1077	rs387906243	16:53682911-53682911	16:53648999-53648999
17	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2050C>T (p.Gln684Ter)	SNV	Pathogenic	1076	rs121918204	16:53686549-53686549	16:53652637-53652637
18	RPGRIP1L	NM_015272.5(RPGRIP1L):c.118C>T (p.Gln40Ter)	SNV	Pathogenic	438669	rs1555616593	16:53730175-53730175	16:53696263-53696263
19	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2614C>T (p.Gln872Ter)	SNV	Likely pathogenic	1074	rs121918203	16:53679606-53679606	16:53645694-53645694
20	RPGRIP1L	NM_015272.5(RPGRIP1L):c.3594G>A (p.Trp1198Ter)	SNV	Likely pathogenic	635022	rs1567800920	16:53652959-53652959	16:53619047-53619047
21	RPGRIP1L	NM_015272.5(RPGRIP1L):c.3297_3298TC[3] (p.Ala1101fs)	Microsatellite	Likely pathogenic	208609	rs797045104	16:53656262-53656263	16:53622350-53622351
22	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1158dup (p.Val387fs)	Duplication	Likely pathogenic	212060	rs797045918	16:53698866-53698867	16:53664954-53664955
23	RPGRIP1L	NM_015272.5(RPGRIP1L):c.751C>T (p.Arg251Ter)	SNV	Likely pathogenic	931822		16:53720370-53720370	16:53686458-53686458
24	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1804C>T (p.Arg602Ter)	SNV	Likely pathogenic	931963		16:53686795-53686795	16:53652883-53652883
25	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2560C>T (p.Arg854Ter)	SNV	Likely pathogenic	931964		16:53679660-53679660	16:53645748-53645748
26	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1962A>T (p.Glu654Asp)	SNV	Uncertain significance	887796		16:53686637-53686637	16:53652725-53652725
27	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2240G>A (p.Arg747Gln)	SNV	Uncertain significance	166909	rs142349647	16:53682940-53682940	16:53649028-53649028
28	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2565C>T (p.Tyr855=)	SNV	Uncertain significance	319656	rs886052096	16:53679655-53679655	16:53645743-53645743
29	RPGRIP1L	NM_015272.5(RPGRIP1L):c.*270G>A	SNV	Uncertain significance	319641	rs549065732	16:53635718-53635718	16:53601806-53601806
30	RPGRIP1L	NM_015272.5(RPGRIP1L):c.-7-10T>C	SNV	Uncertain significance	319671	rs886052099	16:53734652-53734652	16:53700740-53700740
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.1682G>A (p.Arg561His)	SNV	Uncertain significance	286978	rs147366111	16:53690401-53690401	16:53656489-53656489
34	RPGRIP1L	NM_015272.5(RPGRIP1L):c.*875A>G	SNV	Uncertain significance	319633	rs886052088	16:53635113-53635113	16:53601201-53601201
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	RPGRIP1L	NM_015272.5(RPGRIP1L):c.*1309C>A	SNV	Uncertain significance	319628	rs145688896	16:53634679-53634679	16:53600767-53600767
39	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2201G>A (p.Arg734Gln)	SNV	Uncertain significance	319660	rs117364872	16:53682979-53682979	16:53649067-53649067
40	RPGRIP1L	NM_015272.5(RPGRIP1L):c.*980T>C	SNV	Uncertain significance	319631	rs886052087	16:53635008-53635008	16:53601096-53601096
41	RPGRIP1L	NM_015272.5(RPGRIP1L):c.*1482G>A	SNV	Uncertain significance	319627	rs192765976	16:53634506-53634506	16:53600594-53600594
42	RPGRIP1L	NM_015272.5(RPGRIP1L):c.*1584G>T	SNV	Uncertain significance	319626	rs151226475	16:53634404-53634404	16:53600492-53600492
43	RPGRIP1L	NM_015272.5(RPGRIP1L):c.303G>A (p.Arg101=)	SNV	Uncertain significance	319666	rs182207372	16:53726204-53726204	16:53692292-53692292
44	RPGRIP1L	NM_015272.5(RPGRIP1L):c.*698T>C	SNV	Uncertain significance	319635	rs545786772	16:53635290-53635290	16:53601378-53601378
45	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2926T>A (p.Ser976Thr)	SNV	Uncertain significance	319654	rs886052095	16:53674977-53674977	16:53641065-53641065
46	RPGRIP1L	NM_015272.5(RPGRIP1L):c.*506T>G	SNV	Uncertain significance	319638	rs778362441	16:53635482-53635482	16:53601570-53601570
47	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2658G>A (p.Ser886=)	SNV	Uncertain significance	260599	rs775153934	16:53679562-53679562	16:53645650-53645650
48	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1331G>A (p.Arg444His)	SNV	Uncertain significance	319663	rs76600508	16:53692703-53692703	16:53658791-53658791
49	RPGRIP1L	NM_015272.5(RPGRIP1L):c.*1883C>G	SNV	Uncertain significance	319623	rs886052086	16:53634105-53634105	16:53600193-53600193
50	RPGRIP1L	NM_015272.5(RPGRIP1L):c.*1207G>A	SNV	Uncertain significance	319629	rs561880798	16:53634781-53634781	16:53600869-53600869

UniProtKB/Swiss-Prot genetic disease variations for Joubert Syndrome 7:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	RPGRIP1L	p.Thr615Pro	VAR_039393	rs121918198
2	RPGRIP1L	p.Thr677Ile	VAR_039394	rs532768944
3	RPGRIP1L	p.Ala695Pro	VAR_039395	rs121918200
4	RPGRIP1L	p.Gln550Arg	VAR_069234	rs772900011
5	RPGRIP1L	p.Glu393Lys	VAR_076824	rs375776718
6	RPGRIP1L	p.Cys633Arg	VAR_076825	rs898062661

Sources

Expression for Joubert Syndrome 7

Search GEO for disease gene expression data for Joubert Syndrome 7.

Sources

Pathways for Joubert Syndrome 7

Pathways related to Joubert Syndrome 7 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	12.6	TMEM67 TMEM216 RPGRIP1L NPHP1 MKS1 CEP290
2	Organelle biogenesis and maintenance ⁶⁵ Show member pathways Cilium Assembly ⁶⁵	12.13	TRAF3IP1 TMEM67 TMEM216 RPGRIP1L PKD2 NPHP1

Sources

GO Terms for Joubert Syndrome 7

Cellular components related to Joubert Syndrome 7 according to GeneCards Suite gene sharing:

(show all 15)

#	Name	GO ID	Score	Top Affiliating Genes
1	cytoplasm	GO:0005737	10.26	TRAF3IP1 TMEM67 TMEM216 RPGRIP1L PKD2 NPHP1
2	cytoskeleton	GO:0005856	10.07	TRAF3IP1 TMEM67 TMEM216 RPGRIP1L NPHP1 MKS1
3	centrosome	GO:0005813	9.98	TRAF3IP1 TMEM67 RPGRIP1L MKS1 CEP290 B9D2
4	ciliary basal body	GO:0036064	9.87	TRAF3IP1 RPGRIP1L PKD2 MKS1 CEP290 B9D2
5	ciliary transition zone	GO:0035869	9.81	TRAF3IP1 TMEM67 TMEM216 RPGRIP1L RPGRIP1 MKS1
6	cell-cell junction	GO:0005911	9.8	RPGRIP1L PKD2 NPHP1 AHI1
7	MKS complex	GO:0036038	9.8	TMEM67 TMEM216 MKS1 CEP290 CC2D2A B9D2
8	axoneme	GO:0005930	9.78	TRAF3IP1 RPGRIP1L RPGRIP1 ARL13B
9	cell projection	GO:0042995	9.77	TRAF3IP1 TMEM67 TMEM216 RPGRIP1L RPGRIP1 PKD2
10	photoreceptor connecting cilium	GO:0032391	9.76	RPGRIP1L RPGRIP1 NPHP1 CEP290
11	motile cilium	GO:0031514	9.72	PKD2 NPHP1 ARL13B
12	centriole	GO:0005814	9.71	MKS1 CEP290 AHI1
13	non-motile cilium	GO:0097730	9.71	RPGRIP1 PKD2 ARL13B AHI1
14	ciliary membrane	GO:0060170	9.69	TMEM67 PKD2 ARL13B
15	cilium	GO:0005929	9.44	TRAF3IP1 TMEM67 TMEM216 RPGRIP1L RPGRIP1 PKD2

Biological processes related to Joubert Syndrome 7 according to GeneCards Suite gene sharing:

(show all 17)

#	Name	GO ID	Score	Top Affiliating Genes
1	cell projection organization	GO:0030030	9.81	TRAF3IP1 TMEM67 TMEM216 NPHP1 MKS1 CEP290
2	non-motile cilium assembly	GO:1905515	9.73	TMEM216 RPGRIP1L RPGRIP1 MKS1 CC2D2A ARL13B
3	determination of left/right symmetry	GO:0007368	9.72	RPGRIP1L PKD2 MKS1 CC2D2A ARL13B
4	kidney development	GO:0001822	9.67	TRAF3IP1 RPGRIP1L PKD2 CC2D2A
5	ciliary basal body-plasma membrane docking	GO:0097711	9.61	TMEM67 TMEM216 RPGRIP1L NPHP1 MKS1 CEP290
6	heart looping	GO:0001947	9.58	PKD2 ARL13B AHI1
7	motile cilium assembly	GO:0044458	9.57	MKS1 CC2D2A
8	regulation of smoothened signaling pathway	GO:0008589	9.56	RPGRIP1L MKS1
9	hindbrain development	GO:0030902	9.55	CEP290 AHI1
10	head development	GO:0060322	9.54	RPGRIP1L MKS1
11	eye photoreceptor cell development	GO:0042462	9.52	RPGRIP1 CEP290
12	embryonic brain development	GO:1990403	9.51	MKS1 CC2D2A
13	left/right axis specification	GO:0070986	9.49	ARL13B AHI1
14	retinal rod cell development	GO:0046548	9.48	RPGRIP1L RPGRIP1
15	neural tube patterning	GO:0021532	9.46	RPGRIP1L ARL13B
16	morphogenesis of a polarized epithelium	GO:0001738	9.43	TRAF3IP1 AHI1
17	cilium assembly	GO:0060271	9.32	TRAF3IP1 TMEM67 TMEM216 RPGRIP1L MKS1 CEP290

Sources

Sources for Joubert Syndrome 7

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

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 7 (JBTS7)

Aliases & Classifications for Joubert Syndrome 7

MalaCards integrated aliases for Joubert Syndrome 7:

Characteristics:

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HPO:

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Summaries for Joubert Syndrome 7

Related Diseases for Joubert Syndrome 7

Diseases in the Joubert Syndrome 1 family:

Diseases related to Joubert Syndrome 7 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Joubert Syndrome 7:

Symptoms & Phenotypes for Joubert Syndrome 7

Human phenotypes related to Joubert Syndrome 7:

Symptoms via clinical synopsis from OMIM®:

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Expression for Joubert Syndrome 7

Pathways for Joubert Syndrome 7

Pathways related to Joubert Syndrome 7 according to GeneCards Suite gene sharing:

GO Terms for Joubert Syndrome 7

Cellular components related to Joubert Syndrome 7 according to GeneCards Suite gene sharing:

Biological processes related to Joubert Syndrome 7 according to GeneCards Suite gene sharing:

Sources for Joubert Syndrome 7