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

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Aliases & Classifications for Joubert Syndrome 7

MalaCards integrated aliases for Joubert Syndrome 7:

Name: Joubert Syndrome 7 ⁵⁷ ¹² ⁷⁴ ²⁹ ¹³ ⁶ ⁴⁴ ⁷²

Jbts7 ⁵⁷ ¹² ⁷⁴

Cerebello-Oculo-Renal Syndrome 3 ⁷⁴

Joubert Syndrome, Type 7 ⁴⁰

Cors3 ⁷⁴

Characteristics:

OMIM:

⁵⁷

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:

³²

joubert syndrome 7:
Inheritance autosomal recessive inheritance heterogeneous

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0111002

OMIM ⁵⁷ 611560 PS213300

MeSH ⁴⁴ C566916 D002526 D005124 more

MedGen ⁴² C1969053

UMLS ⁷² C1969053

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Summaries for Joubert Syndrome 7

UniProtKB/Swiss-Prot : ⁷⁴ 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, is also known as jbts7, and has symptoms including ataxia An important gene associated with Joubert Syndrome 7 is RPGRIP1L (RPGRIP1 Like). Affiliated tissues include brain and eye, and related phenotypes are ptosis and nystagmus

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

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Symptoms & Phenotypes for Joubert Syndrome 7

Human phenotypes related to Joubert Syndrome 7:

³² (show all 20)

#	Description	HPO Source Accession
1	ptosis ³²	HP:0000508
2	nystagmus ³²	HP:0000639
3	intellectual disability ³²	HP:0001249
4	ataxia ³²	HP:0001251
5	scoliosis ³²	HP:0002650
6	global developmental delay ³²	HP:0001263
7	generalized hypotonia ³²	HP:0001290
8	nephronophthisis ³²	HP:0000090
9	postaxial hand polydactyly ³²	HP:0001162
10	encephalocele ³²	HP:0002084
11	oculomotor apraxia ³²	HP:0000657
12	renal cyst ³²	HP:0000107
13	retinal dystrophy ³²	HP:0000556
14	molar tooth sign on mri ³²	HP:0002419
15	episodic tachypnea ³²	HP:0002876
16	central apnea ³²	HP:0002871
17	abnormal corpus callosum morphology ³²	HP:0001273
18	hypoplasia of the brainstem ³²	HP:0002365
19	brainstem dysplasia ³²	HP:0002508
20	neonatal breathing dysregulation ³²	HP:0002790

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

Skeletal Spine:
scoliosis

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

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

Genitourinary Kidneys:
nephronophthisis
renal cysts
impaired renal function

Skeletal Hands:
polydactyly, postaxial

Clinical features from OMIM:

611560

UMLS symptoms related to Joubert Syndrome 7:

ataxia

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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:

⁴¹

Brain, Eye

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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. ⁸ ⁷¹	Brancati F...Valente EM	18565097	2008
2	Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. ⁸ ⁷¹	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. ⁸ ⁷¹	Delous M...Saunier S	17558409	2007
4	Exome sequencing can improve diagnosis and alter patient management. ⁷¹	Dixon-Salazar TJ...Gleeson JG	22700954	2012
5	Clinical utility gene card for: Joubert syndrome. ⁷¹	Valente EM...Dallapiccola B	21448235	2011
6	Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. ⁷¹	Dafinger C...Bolz HJ	21633164	2011
7	Joubert Syndrome ⁷¹	Parisi M...Glass I	20301500	2003

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Genes for Joubert Syndrome 7

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

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	RPGRIP1L	RPGRIP1 Like	Protein Coding	1328.52	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁴ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	18565097 17558409 21448235 (more) 17558407 20301500

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Variations for Joubert Syndrome 7

ClinVar genetic disease variations for Joubert Syndrome 7:

⁶ (show all 28)

#	Gene	Variation	Type	Significance	SNP ID	GRCh37 Pos	GRCh38 Pos
1	RPGRIP1L	NM_015272.5(RPGRIP1L): c.118C> T (p.Gln40Ter)	single nucleotide variant	Pathogenic	rs1555616593	16:53730175-53730175	16:53696263-53696263
2	RPGRIP1L	NM_015272.5(RPGRIP1L): c.1843A> C (p.Thr615Pro)	single nucleotide variant	Pathogenic	rs121918198	16:53686756-53686756	16:53652844-53652844
3	RPGRIP1L	NM_015272.5(RPGRIP1L): c.757C> T (p.Gln253Ter)	single nucleotide variant	Pathogenic	rs121918199	16:53720364-53720364	16:53686452-53686452
4	RPGRIP1L	NM_015272.5(RPGRIP1L): c.2083G> C (p.Ala695Pro)	single nucleotide variant	Pathogenic	rs121918200	16:53686516-53686516	16:53652604-53652604
5	RPGRIP1L	NM_015272.5(RPGRIP1L): c.3701+1G> T	single nucleotide variant	Pathogenic	rs863225219	16:53644878-53644878	16:53610966-53610966
6	RPGRIP1L	NM_015272.5(RPGRIP1L): c.3529C> T (p.Arg1177Ter)	single nucleotide variant	Pathogenic	rs778533826	16:53653024-53653024	16:53619112-53619112
7	RPGRIP1L	NM_015272.5(RPGRIP1L): c.2305-1G> A	single nucleotide variant	Pathogenic	rs863225215	16:53679916-53679916	16:53646004-53646004
8	RPGRIP1L	NM_015272.5(RPGRIP1L): c.1721del (p.Tyr574fs)	deletion	Pathogenic	rs863225216	16:53686878-53686878	16:53652966-53652966
9	RPGRIP1L	NM_015272.5(RPGRIP1L): c.1243+1G> A	single nucleotide variant	Pathogenic	rs863225218	16:53698781-53698781	16:53664869-53664869
10	RPGRIP1L	NM_015272.5(RPGRIP1L): c.1132del (p.Trp378fs)	deletion	Pathogenic	rs863225217	16:53698893-53698893	16:53664981-53664981
11	RPGRIP1L	RPGRIP1L, 1-BP DEL, 1721A	deletion	Pathogenic
12	RPGRIP1L	NM_015272.5(RPGRIP1L): c.2050C> T (p.Gln684Ter)	single nucleotide variant	Pathogenic	rs121918204	16:53686549-53686549	16:53652637-53652637
13	RPGRIP1L	NM_015272.5(RPGRIP1L): c.2269del (p.Thr757fs)	deletion	Pathogenic	rs387906243	16:53682911-53682911	16:53648999-53648999
14	RPGRIP1L	NM_015272.5(RPGRIP1L): c.2413C> T (p.Arg805Ter)	single nucleotide variant	Pathogenic	rs145665129	16:53679807-53679807	16:53645895-53645895
15	RPGRIP1L	NM_015272.5(RPGRIP1L): c.1975T> C (p.Ser659Pro)	single nucleotide variant	Pathogenic	rs267607020	16:53686624-53686624	16:53652712-53652712
16	RPGRIP1L	NM_015272.5(RPGRIP1L): c.1709dup (p.Asp571fs)	duplication	Pathogenic	rs778149316	16:53686890-53686890	16:53652978-53652978
17	RPGRIP1L	NM_015272.5(RPGRIP1L): c.3297_3298TC[3] (p.Ala1101fs)	short repeat	Likely pathogenic	rs797045104	16:53656262-53656263	16:53622350-53622351
18	RPGRIP1L	NM_015272.5(RPGRIP1L): c.1158dup (p.Val387fs)	duplication	Likely pathogenic	rs797045918	16:53698867-53698867	16:53664955-53664955
19	RPGRIP1L	NM_015272.5(RPGRIP1L): c.3594G> A (p.Trp1198Ter)	single nucleotide variant	Likely pathogenic		16:53652959-53652959	16:53619047-53619047
20	RPGRIP1L	NM_015272.5(RPGRIP1L): c.2614C> T (p.Gln872Ter)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs121918203	16:53679606-53679606	16:53645694-53645694
21	RPGRIP1L	NM_015272.5(RPGRIP1L): c.2932G> A (p.Val978Met)	single nucleotide variant	Uncertain significance	rs367845452	16:53674971-53674971	16:53641059-53641059
22	RPGRIP1L	NM_015272.5(RPGRIP1L): c.697A> T (p.Lys233Ter)	single nucleotide variant	Uncertain significance	rs121918197	16:53720424-53720424	16:53686512-53686512
23	RPGRIP1L	NM_015272.5(RPGRIP1L): c.1772T> C (p.Val591Ala)	single nucleotide variant	Uncertain significance	rs201131571	16:53686827-53686827	16:53652915-53652915
24	RPGRIP1L	NM_015272.5(RPGRIP1L): c.1660C> A (p.Leu554Ile)	single nucleotide variant	Uncertain significance	rs79524027	16:53690423-53690423	16:53656511-53656511
25	RPGRIP1L	NM_015272.5(RPGRIP1L): c.3706C> T (p.Arg1236Cys)	single nucleotide variant	Uncertain significance	rs151332923	16:53639522-53639522	16:53605610-53605610
26	RPGRIP1L	NM_015272.5(RPGRIP1L): c.1810G> A (p.Glu604Lys)	single nucleotide variant	Uncertain significance	rs143863631	16:53686789-53686789	16:53652877-53652877
27	RPGRIP1L	NM_015272.5(RPGRIP1L): c.251G> A (p.Arg84Gln)	single nucleotide variant	Uncertain significance	rs151212590	16:53726256-53726256	16:53692344-53692344
28	RPGRIP1L	NM_015272.5(RPGRIP1L): c.1156A> G (p.Lys386Glu)	single nucleotide variant	Uncertain significance	rs137982921	16:53698869-53698869	16:53664957-53664957

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

⁷⁴

#	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

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Expression for Joubert Syndrome 7

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

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Pathways for Joubert Syndrome 7

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GO Terms for Joubert Syndrome 7

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Joubert Syndrome 7 (JBTS7)

Aliases & Classifications for Joubert Syndrome 7

MalaCards integrated aliases for Joubert Syndrome 7:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Joubert Syndrome 7

Related Diseases for Joubert Syndrome 7

Diseases in the Joubert Syndrome 1 family:

Symptoms & Phenotypes for Joubert Syndrome 7

Human phenotypes related to Joubert Syndrome 7:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

UMLS symptoms related to Joubert Syndrome 7:

Drugs & Therapeutics for Joubert Syndrome 7

Cochrane evidence based reviews: joubert syndrome 7

Genetic Tests for Joubert Syndrome 7

Genetic tests related to Joubert Syndrome 7:

Anatomical Context for Joubert Syndrome 7

MalaCards organs/tissues related to Joubert Syndrome 7:

Publications for Joubert Syndrome 7

Articles related to Joubert Syndrome 7:

Genes for Joubert Syndrome 7

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

Variations for Joubert Syndrome 7

ClinVar genetic disease variations for Joubert Syndrome 7:

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

Expression for Joubert Syndrome 7

Pathways for Joubert Syndrome 7

GO Terms for Joubert Syndrome 7

Sources for Joubert Syndrome 7