JBTS7
MCID: JBR011
MIFTS: 26

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 58 12 76 30 13 6 45 74
Jbts7 58 12 76
Cerebello-Oculo-Renal Syndrome 3 76
Joubert Syndrome, Type 7 41
Cors3 76

Characteristics:

OMIM:

58
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:

33
joubert syndrome 7:
Inheritance heterogeneous autosomal recessive inheritance


Classifications:



Summaries for Joubert Syndrome 7

UniProtKB/Swiss-Prot : 76 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 eye, brain and liver, 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.

Description from OMIM: 611560

Symptoms & Phenotypes for Joubert Syndrome 7

Human phenotypes related to Joubert Syndrome 7:

33 (show all 20)
# Description HPO Frequency HPO Source Accession
1 ptosis 33 HP:0000508
2 nystagmus 33 HP:0000639
3 intellectual disability 33 HP:0001249
4 ataxia 33 HP:0001251
5 scoliosis 33 HP:0002650
6 global developmental delay 33 HP:0001263
7 nephronophthisis 33 HP:0000090
8 postaxial hand polydactyly 33 HP:0001162
9 encephalocele 33 HP:0002084
10 generalized hypotonia 33 HP:0001290
11 oculomotor apraxia 33 HP:0000657
12 renal cyst 33 HP:0000107
13 retinal dystrophy 33 HP:0000556
14 molar tooth sign on mri 33 HP:0002419
15 episodic tachypnea 33 HP:0002876
16 central apnea 33 HP:0002871
17 hypoplasia of the brainstem 33 HP:0002365
18 brainstem dysplasia 33 HP:0002508
19 neonatal breathing dysregulation 33 HP:0002790
20 abnormal corpus callosum morphology 33 HP:0001273

Symptoms via clinical synopsis from OMIM:

58
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 30 RPGRIP1L

Anatomical Context for Joubert Syndrome 7

MalaCards organs/tissues related to Joubert Syndrome 7:

42
Eye, Brain, Liver

Publications for Joubert Syndrome 7

Articles related to Joubert Syndrome 7:

# Title Authors Year
1
RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders. ( 18565097 )
2008
2
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. ( 17558407 )
2007
3
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. ( 17558409 )
2007

Variations for Joubert Syndrome 7

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

76
# 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 top 50) (show all 53)
# Gene Variation Type Significance SNP ID Assembly Location
1 RPGRIP1L NM_001127897.3(RPGRIP1L): c.757C> T (p.Gln253Ter) single nucleotide variant Pathogenic rs121918199 GRCh37 Chromosome 16, 53720364: 53720364
2 RPGRIP1L NM_001127897.3(RPGRIP1L): c.757C> T (p.Gln253Ter) single nucleotide variant Pathogenic rs121918199 GRCh38 Chromosome 16, 53686452: 53686452
3 RPGRIP1L NM_015272.4(RPGRIP1L): c.697A> T (p.Lys233Ter) single nucleotide variant Uncertain significance rs121918197 GRCh37 Chromosome 16, 53720424: 53720424
4 RPGRIP1L NM_015272.4(RPGRIP1L): c.697A> T (p.Lys233Ter) single nucleotide variant Uncertain significance rs121918197 GRCh38 Chromosome 16, 53686512: 53686512
5 RPGRIP1L NM_015272.2(RPGRIP1L): c.1843A> C (p.Thr615Pro) single nucleotide variant Pathogenic rs121918198 GRCh37 Chromosome 16, 53686756: 53686756
6 RPGRIP1L NM_015272.2(RPGRIP1L): c.1843A> C (p.Thr615Pro) single nucleotide variant Pathogenic rs121918198 GRCh38 Chromosome 16, 53652844: 53652844
7 RPGRIP1L NM_001127897.3(RPGRIP1L): c.2083G> C (p.Ala695Pro) single nucleotide variant Pathogenic rs121918200 GRCh37 Chromosome 16, 53686516: 53686516
8 RPGRIP1L NM_001127897.3(RPGRIP1L): c.2083G> C (p.Ala695Pro) single nucleotide variant Pathogenic rs121918200 GRCh38 Chromosome 16, 53652604: 53652604
9 RPGRIP1L NM_001127897.3(RPGRIP1L): c.2614C> T (p.Gln872Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121918203 GRCh37 Chromosome 16, 53679606: 53679606
10 RPGRIP1L NM_001127897.3(RPGRIP1L): c.2614C> T (p.Gln872Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121918203 GRCh38 Chromosome 16, 53645694: 53645694
11 RPGRIP1L RPGRIP1L, 1-BP DEL, 1721A deletion Pathogenic
12 RPGRIP1L NM_015272.4(RPGRIP1L): c.2050C> T (p.Gln684Ter) single nucleotide variant Pathogenic rs121918204 GRCh37 Chromosome 16, 53686549: 53686549
13 RPGRIP1L NM_015272.4(RPGRIP1L): c.2050C> T (p.Gln684Ter) single nucleotide variant Pathogenic rs121918204 GRCh38 Chromosome 16, 53652637: 53652637
14 RPGRIP1L NM_001127897.3(RPGRIP1L): c.2269del (p.Thr757Hisfs*13) deletion Pathogenic rs387906243 GRCh37 Chromosome 16, 53682911: 53682911
15 RPGRIP1L NM_001127897.3(RPGRIP1L): c.2269del (p.Thr757Hisfs*13) deletion Pathogenic rs387906243 GRCh38 Chromosome 16, 53648999: 53648999
16 RPGRIP1L NM_015272.4(RPGRIP1L): c.2413C> T (p.Arg805Ter) single nucleotide variant Pathogenic rs145665129 GRCh37 Chromosome 16, 53679807: 53679807
17 RPGRIP1L NM_015272.4(RPGRIP1L): c.2413C> T (p.Arg805Ter) single nucleotide variant Pathogenic rs145665129 GRCh38 Chromosome 16, 53645895: 53645895
18 RPGRIP1L NM_015272.4(RPGRIP1L): c.1975T> C (p.Ser659Pro) single nucleotide variant Pathogenic rs267607020 GRCh37 Chromosome 16, 53686624: 53686624
19 RPGRIP1L NM_015272.4(RPGRIP1L): c.1975T> C (p.Ser659Pro) single nucleotide variant Pathogenic rs267607020 GRCh38 Chromosome 16, 53652712: 53652712
20 RPGRIP1L NM_015272.4(RPGRIP1L): c.1709dupA (p.Asp571Glyfs) duplication Pathogenic rs778149316 GRCh38 Chromosome 16, 53652978: 53652978
21 RPGRIP1L NM_015272.4(RPGRIP1L): c.1709dupA (p.Asp571Glyfs) duplication Pathogenic rs778149316 GRCh37 Chromosome 16, 53686890: 53686890
22 RPGRIP1L NM_015272.2(RPGRIP1L): c.1156A> G (p.Lys386Glu) single nucleotide variant Uncertain significance rs137982921 GRCh37 Chromosome 16, 53698869: 53698869
23 RPGRIP1L NM_015272.2(RPGRIP1L): c.1156A> G (p.Lys386Glu) single nucleotide variant Uncertain significance rs137982921 GRCh38 Chromosome 16, 53664957: 53664957
24 RPGRIP1L NM_015272.4(RPGRIP1L): c.3300_3301insTC (p.Ala1101Serfs) insertion Likely pathogenic rs797045104 GRCh37 Chromosome 16, 53656262: 53656263
25 RPGRIP1L NM_015272.4(RPGRIP1L): c.3300_3301insTC (p.Ala1101Serfs) insertion Likely pathogenic rs797045104 GRCh38 Chromosome 16, 53622350: 53622351
26 RPGRIP1L NM_001127897.3(RPGRIP1L): c.1158dup (p.Val387Serfs) duplication Likely pathogenic rs797045918 GRCh38 Chromosome 16, 53664955: 53664955
27 RPGRIP1L NM_001127897.3(RPGRIP1L): c.1158dup (p.Val387Serfs) duplication Likely pathogenic rs797045918 GRCh37 Chromosome 16, 53698867: 53698867
28 RPGRIP1L NM_015272.4(RPGRIP1L): c.3701+1G> T single nucleotide variant Pathogenic rs863225219 GRCh38 Chromosome 16, 53610966: 53610966
29 RPGRIP1L NM_015272.4(RPGRIP1L): c.3701+1G> T single nucleotide variant Pathogenic rs863225219 GRCh37 Chromosome 16, 53644878: 53644878
30 RPGRIP1L NM_015272.4(RPGRIP1L): c.3529C> T (p.Arg1177Ter) single nucleotide variant Pathogenic rs778533826 GRCh38 Chromosome 16, 53619112: 53619112
31 RPGRIP1L NM_015272.4(RPGRIP1L): c.3529C> T (p.Arg1177Ter) single nucleotide variant Pathogenic rs778533826 GRCh37 Chromosome 16, 53653024: 53653024
32 RPGRIP1L NM_015272.4(RPGRIP1L): c.2305-1G> A single nucleotide variant Pathogenic rs863225215 GRCh38 Chromosome 16, 53646004: 53646004
33 RPGRIP1L NM_015272.4(RPGRIP1L): c.2305-1G> A single nucleotide variant Pathogenic rs863225215 GRCh37 Chromosome 16, 53679916: 53679916
34 RPGRIP1L NM_015272.4(RPGRIP1L): c.1721delA (p.Tyr574Leufs) deletion Pathogenic rs863225216 GRCh38 Chromosome 16, 53652966: 53652966
35 RPGRIP1L NM_015272.4(RPGRIP1L): c.1721delA (p.Tyr574Leufs) deletion Pathogenic rs863225216 GRCh37 Chromosome 16, 53686878: 53686878
36 RPGRIP1L NM_015272.4(RPGRIP1L): c.1243+1G> A single nucleotide variant Pathogenic rs863225218 GRCh38 Chromosome 16, 53664869: 53664869
37 RPGRIP1L NM_015272.4(RPGRIP1L): c.1243+1G> A single nucleotide variant Pathogenic rs863225218 GRCh37 Chromosome 16, 53698781: 53698781
38 RPGRIP1L NM_015272.4(RPGRIP1L): c.1132delT (p.Trp378Glyfs) deletion Pathogenic rs863225217 GRCh38 Chromosome 16, 53664981: 53664981
39 RPGRIP1L NM_015272.4(RPGRIP1L): c.1132delT (p.Trp378Glyfs) deletion Pathogenic rs863225217 GRCh37 Chromosome 16, 53698893: 53698893
40 RPGRIP1L NM_001127897.3(RPGRIP1L): c.3466C> T (p.Arg1156Cys) single nucleotide variant Uncertain significance rs151332923 GRCh37 Chromosome 16, 53639522: 53639522
41 RPGRIP1L NM_001127897.3(RPGRIP1L): c.3466C> T (p.Arg1156Cys) single nucleotide variant Uncertain significance rs151332923 GRCh38 Chromosome 16, 53605610: 53605610
42 RPGRIP1L NM_015272.2(RPGRIP1L): c.1810G> A (p.Glu604Lys) single nucleotide variant Uncertain significance rs143863631 GRCh37 Chromosome 16, 53686789: 53686789
43 RPGRIP1L NM_015272.2(RPGRIP1L): c.1810G> A (p.Glu604Lys) single nucleotide variant Uncertain significance rs143863631 GRCh38 Chromosome 16, 53652877: 53652877
44 RPGRIP1L NM_015272.4(RPGRIP1L): c.251G> A (p.Arg84Gln) single nucleotide variant Uncertain significance rs151212590 GRCh37 Chromosome 16, 53726256: 53726256
45 RPGRIP1L NM_015272.4(RPGRIP1L): c.251G> A (p.Arg84Gln) single nucleotide variant Uncertain significance rs151212590 GRCh38 Chromosome 16, 53692344: 53692344
46 RPGRIP1L NM_015272.4(RPGRIP1L): c.1772T> C (p.Val591Ala) single nucleotide variant Uncertain significance rs201131571 GRCh37 Chromosome 16, 53686827: 53686827
47 RPGRIP1L NM_015272.4(RPGRIP1L): c.1772T> C (p.Val591Ala) single nucleotide variant Uncertain significance rs201131571 GRCh38 Chromosome 16, 53652915: 53652915
48 RPGRIP1L NM_015272.4(RPGRIP1L): c.1660C> A (p.Leu554Ile) single nucleotide variant Uncertain significance rs79524027 GRCh37 Chromosome 16, 53690423: 53690423
49 RPGRIP1L NM_015272.4(RPGRIP1L): c.1660C> A (p.Leu554Ile) single nucleotide variant Uncertain significance rs79524027 GRCh38 Chromosome 16, 53656511: 53656511
50 RPGRIP1L NM_015272.4(RPGRIP1L): c.118C> T (p.Gln40Ter) single nucleotide variant Pathogenic rs1555616593 GRCh38 Chromosome 16, 53696263: 53696263

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

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