JBTS7
MCID: JBR011
MIFTS: 27

Joubert Syndrome 7 (JBTS7)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases

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:



External Ids:

Disease Ontology 12 DOID:0111002
MedGen 42 C1969053
UMLS 72 C1969053

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

Symptoms & Phenotypes for Joubert Syndrome 7

Human phenotypes related to Joubert Syndrome 7:

32 (show all 20)
# Description HPO Frequency 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

Drugs & Therapeutics for Joubert Syndrome 7

Search Clinical Trials , NIH Clinical Center for Joubert Syndrome 7

Cochrane evidence based reviews: joubert syndrome 7

Genetic Tests for Joubert Syndrome 7

Genetic tests related to Joubert Syndrome 7:

# Genetic test Affiliating Genes
1 Joubert Syndrome 7 29 RPGRIP1L

Anatomical Context for Joubert Syndrome 7

MalaCards organs/tissues related to Joubert Syndrome 7:

41
Brain, Eye

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
18565097 2008
2
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. 8 71
17558407 2007
3
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. 8 71
17558409 2007
4
Exome sequencing can improve diagnosis and alter patient management. 71
22700954 2012
5
Clinical utility gene card for: Joubert syndrome. 71
21448235 2011
6
Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. 71
21633164 2011
7
Joubert Syndrome 71
20301500 2003

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

Expression for Joubert Syndrome 7

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

Pathways for Joubert Syndrome 7

GO Terms for Joubert Syndrome 7

Sources for Joubert Syndrome 7

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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