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

MCID: JBR011 MIFTS: 23	Joubert Syndrome 7 Categories: Genetic diseases, Nephrological diseases, Rare diseases, Neuronal diseases, Fetal diseases
Genes Variations Tissues Symptoms & Phenotypes Download 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 ⁷⁵ ²⁹ ¹³ ⁶ ⁷³

Jbts7 ⁵⁷ ¹² ⁷⁵

Cerebello-Oculo-Renal Syndrome 3 ⁷⁵

Joubert Syndrome, Type 7 ⁴⁰

Cors3 ⁷⁵

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:
Onset and clinical course phenotypic variability
Inheritance heterogeneous autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Nephrological diseases Neuronal diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 611560

Disease Ontology ¹² DOID:0111002

MedGen ⁴² C1969053

MeSH ⁴⁴ D002526 D005124 D052177

SNOMED-CT via HPO ⁶⁹ 258211005 204958008 11934000 more

UMLS ⁷³ C1969053

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Summaries for Joubert Syndrome 7

UniProtKB/Swiss-Prot : ⁷⁵ 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 nephronophthisis and renal cyst

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

Description from OMIM: 611560

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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

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Symptoms & Phenotypes for Joubert Syndrome 7

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

Human phenotypes related to Joubert Syndrome 7:

³² (show all 20)

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

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

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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

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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	1328.54	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	17558409 20301500 17558407 (more) 18565097

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Variations for Joubert Syndrome 7

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

⁷⁵

#	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

ClinVar genetic disease variations for Joubert Syndrome 7:

⁶

(show all 39)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	RPGRIP1L	NM_015272.4(RPGRIP1L): c.1843A> C (p.Thr615Pro)	single nucleotide variant	Pathogenic	rs121918198	GRCh37	Chromosome 16, 53686756: 53686756
2	RPGRIP1L	NM_015272.4(RPGRIP1L): c.1843A> C (p.Thr615Pro)	single nucleotide variant	Pathogenic	rs121918198	GRCh38	Chromosome 16, 53652844: 53652844
3	RPGRIP1L	NM_001127897.3(RPGRIP1L): c.757C> T (p.Gln253Ter)	single nucleotide variant	Pathogenic	rs121918199	GRCh37	Chromosome 16, 53720364: 53720364
4	RPGRIP1L	NM_001127897.3(RPGRIP1L): c.757C> T (p.Gln253Ter)	single nucleotide variant	Pathogenic	rs121918199	GRCh38	Chromosome 16, 53686452: 53686452
5	RPGRIP1L	NM_001127897.3(RPGRIP1L): c.2083G> C (p.Ala695Pro)	single nucleotide variant	Pathogenic	rs121918200	GRCh37	Chromosome 16, 53686516: 53686516
6	RPGRIP1L	NM_001127897.3(RPGRIP1L): c.2083G> C (p.Ala695Pro)	single nucleotide variant	Pathogenic	rs121918200	GRCh38	Chromosome 16, 53652604: 53652604
7	RPGRIP1L	NM_001127897.3(RPGRIP1L): c.2614C> T (p.Gln872Ter)	single nucleotide variant	Pathogenic	rs121918203	GRCh37	Chromosome 16, 53679606: 53679606
8	RPGRIP1L	NM_001127897.3(RPGRIP1L): c.2614C> T (p.Gln872Ter)	single nucleotide variant	Pathogenic	rs121918203	GRCh38	Chromosome 16, 53645694: 53645694
9	RPGRIP1L	RPGRIP1L, 1-BP DEL, 1721A	deletion	Pathogenic
10	RPGRIP1L	NM_015272.4(RPGRIP1L): c.2050C> T (p.Gln684Ter)	single nucleotide variant	Pathogenic	rs121918204	GRCh37	Chromosome 16, 53686549: 53686549
11	RPGRIP1L	NM_015272.4(RPGRIP1L): c.2050C> T (p.Gln684Ter)	single nucleotide variant	Pathogenic	rs121918204	GRCh38	Chromosome 16, 53652637: 53652637
12	RPGRIP1L	NM_001127897.3(RPGRIP1L): c.2269delA (p.Thr757Hisfs*13)	deletion	Pathogenic	rs387906243	GRCh37	Chromosome 16, 53682911: 53682911
13	RPGRIP1L	NM_001127897.3(RPGRIP1L): c.2269delA (p.Thr757Hisfs*13)	deletion	Pathogenic	rs387906243	GRCh38	Chromosome 16, 53648999: 53648999
14	RPGRIP1L	NM_015272.4(RPGRIP1L): c.2413C> T (p.Arg805Ter)	single nucleotide variant	Pathogenic	rs145665129	GRCh37	Chromosome 16, 53679807: 53679807
15	RPGRIP1L	NM_015272.4(RPGRIP1L): c.2413C> T (p.Arg805Ter)	single nucleotide variant	Pathogenic	rs145665129	GRCh38	Chromosome 16, 53645895: 53645895
16	RPGRIP1L	NM_015272.4(RPGRIP1L): c.1975T> C (p.Ser659Pro)	single nucleotide variant	Pathogenic	rs267607020	GRCh37	Chromosome 16, 53686624: 53686624
17	RPGRIP1L	NM_015272.4(RPGRIP1L): c.1975T> C (p.Ser659Pro)	single nucleotide variant	Pathogenic	rs267607020	GRCh38	Chromosome 16, 53652712: 53652712
18	RPGRIP1L	NM_015272.4(RPGRIP1L): c.1709dupA (p.Asp571Glyfs)	duplication	Pathogenic	rs778149316	GRCh38	Chromosome 16, 53652978: 53652978
19	RPGRIP1L	NM_015272.4(RPGRIP1L): c.1709dupA (p.Asp571Glyfs)	duplication	Pathogenic	rs778149316	GRCh37	Chromosome 16, 53686890: 53686890
20	RPGRIP1L	NM_001127897.3(RPGRIP1L): c.2030C> T (p.Thr677Ile)	single nucleotide variant	Likely benign	rs532768944	GRCh37	Chromosome 16, 53686569: 53686569
21	RPGRIP1L	NM_001127897.3(RPGRIP1L): c.2030C> T (p.Thr677Ile)	single nucleotide variant	Likely benign	rs532768944	GRCh38	Chromosome 16, 53652657: 53652657
22	RPGRIP1L	NM_015272.4(RPGRIP1L): c.3300_3301insTC (p.Ala1101Serfs)	insertion	Likely pathogenic	rs797045104	GRCh37	Chromosome 16, 53656262: 53656263
23	RPGRIP1L	NM_015272.4(RPGRIP1L): c.3300_3301insTC (p.Ala1101Serfs)	insertion	Likely pathogenic	rs797045104	GRCh38	Chromosome 16, 53622350: 53622351
24	RPGRIP1L	NM_001127897.3(RPGRIP1L): c.1158dupA (p.Val387Serfs)	duplication	Likely pathogenic	rs797045918	GRCh38	Chromosome 16, 53664955: 53664955
25	RPGRIP1L	NM_001127897.3(RPGRIP1L): c.1158dupA (p.Val387Serfs)	duplication	Likely pathogenic	rs797045918	GRCh37	Chromosome 16, 53698867: 53698867
26	RPGRIP1L	NM_015272.4(RPGRIP1L): c.3701+1G> T	single nucleotide variant	Pathogenic	rs863225219	GRCh38	Chromosome 16, 53610966: 53610966
27	RPGRIP1L	NM_015272.4(RPGRIP1L): c.3701+1G> T	single nucleotide variant	Pathogenic	rs863225219	GRCh37	Chromosome 16, 53644878: 53644878
28	RPGRIP1L	NM_015272.4(RPGRIP1L): c.3529C> T (p.Arg1177Ter)	single nucleotide variant	Pathogenic	rs778533826	GRCh38	Chromosome 16, 53619112: 53619112
29	RPGRIP1L	NM_015272.4(RPGRIP1L): c.3529C> T (p.Arg1177Ter)	single nucleotide variant	Pathogenic	rs778533826	GRCh37	Chromosome 16, 53653024: 53653024
30	RPGRIP1L	NM_015272.4(RPGRIP1L): c.2305-1G> A	single nucleotide variant	Pathogenic	rs863225215	GRCh38	Chromosome 16, 53646004: 53646004
31	RPGRIP1L	NM_015272.4(RPGRIP1L): c.2305-1G> A	single nucleotide variant	Pathogenic	rs863225215	GRCh37	Chromosome 16, 53679916: 53679916
32	RPGRIP1L	NM_015272.4(RPGRIP1L): c.1721delA (p.Tyr574Leufs)	deletion	Pathogenic	rs863225216	GRCh38	Chromosome 16, 53652966: 53652966
33	RPGRIP1L	NM_015272.4(RPGRIP1L): c.1721delA (p.Tyr574Leufs)	deletion	Pathogenic	rs863225216	GRCh37	Chromosome 16, 53686878: 53686878
34	RPGRIP1L	NM_015272.4(RPGRIP1L): c.1243+1G> A	single nucleotide variant	Pathogenic	rs863225218	GRCh38	Chromosome 16, 53664869: 53664869
35	RPGRIP1L	NM_015272.4(RPGRIP1L): c.1243+1G> A	single nucleotide variant	Pathogenic	rs863225218	GRCh37	Chromosome 16, 53698781: 53698781
36	RPGRIP1L	NM_015272.4(RPGRIP1L): c.1132delT (p.Trp378Glyfs)	deletion	Pathogenic	rs863225217	GRCh38	Chromosome 16, 53664981: 53664981
37	RPGRIP1L	NM_015272.4(RPGRIP1L): c.1132delT (p.Trp378Glyfs)	deletion	Pathogenic	rs863225217	GRCh37	Chromosome 16, 53698893: 53698893
38	RPGRIP1L	NM_015272.4(RPGRIP1L): c.118C> T (p.Gln40Ter)	single nucleotide variant	Pathogenic		GRCh38	Chromosome 16, 53696263: 53696263
39	RPGRIP1L	NM_015272.4(RPGRIP1L): c.118C> T (p.Gln40Ter)	single nucleotide variant	Pathogenic		GRCh37	Chromosome 16, 53730175: 53730175

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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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Sources for Joubert Syndrome 7

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