JBTS7
MCID: JBR011
MIFTS: 45

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 56 12 73 29 13 6 43 15 71
Jbts7 56 12 73
Cerebello-Oculo-Renal Syndrome 3 73
Joubert Syndrome, Type 7 39
Cors3 73

Characteristics:

OMIM:

56
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:



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 ciliopathy and retinal aplasia, 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, kidney and liver, 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

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

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

(show top 50) (show all 80)
# Related Disease Score Top Affiliating Genes
1 ciliopathy 10.3 TMEM67 RPGRIP1L
2 retinal aplasia 10.3 NPHP1 CEP290
3 nephronophthisis 13 10.2 NPHP1 CEP290
4 nephronophthisis 16 10.2 NPHP1 CEP290
5 nephronophthisis 12 10.2 NPHP1 CEP290
6 bardet-biedl syndrome 10 10.2 TMEM216 NPHP1
7 coach syndrome 10.1 TMEM67 RPGRIP1L CC2D2A
8 joubert syndrome 21 10.1 NPHP1 ARL13B
9 renal-hepatic-pancreatic dysplasia 10.1 NPHP1 CEP290
10 joubert syndrome 13 10.1 TMEM67 TMEM216 CC2D2A
11 cone-rod dystrophy 13 10.1 RPGRIP1L RPGRIP1
12 arima syndrome 10.0 TMEM216 CEP290 CC2D2A
13 retinal ciliopathy 10.0 RPGRIP1 CEP290
14 bardet-biedl syndrome 13 10.0 MKS1 CEP290
15 oculomotor apraxia 10.0 NPHP1 AHI1
16 simpson-golabi-behmel syndrome, type 2 10.0 RPGRIP1 CEP290
17 acrocallosal syndrome 10.0 TMEM216 RPGRIP1L AHI1
18 leber congenital amaurosis 10 10.0 RPGRIP1 CEP290
19 leber congenital amaurosis 3 9.9 RPGRIP1 CEP290
20 oligohydramnios 9.9 TMEM67 MKS1 CC2D2A
21 leber congenital amaurosis 4 9.9 RPGRIP1 CEP290
22 nephronophthisis 4 9.9 RPGRIP1 NPHP1
23 ellis-van creveld syndrome 9.9 TMEM216 RPGRIP1L ARL13B
24 congenital hepatic fibrosis 9.9 TMEM67 RPGRIP1L CC2D2A AHI1
25 bardet-biedl syndrome 8 9.9 MKS1 CEP290
26 leber congenital amaurosis 2 9.8 RPGRIP1 CEP290
27 bardet-biedl syndrome 6 9.8 MKS1 CEP290
28 polycystic kidney disease 2 with or without polycystic liver disease 9.8 TMEM67 MKS1 ARL13B
29 cogan syndrome 9.8 NPHP1 CEP290 CC2D2A AHI1
30 physical disorder 9.7 MKS1 CEP290 ARL13B
31 leber congenital amaurosis 6 9.7 RPGRIP1 MKS1 CEP290
32 pathologic nystagmus 9.6 TMEM67 MKS1 CEP290 AHI1
33 bardet-biedl syndrome 3 9.6 MKS1 CEP290
34 nephronophthisis 19 9.6 TMEM67 RPGRIP1L NPHP1 CEP290 AHI1
35 meckel syndrome, type 7 9.5 TMEM216 B9D2 B9D1
36 retinal degeneration 9.4 TMEM67 RPGRIP1L RPGRIP1 NPHP1 CEP290
37 joubert syndrome 14 9.3 TMEM216 RPGRIP1L B9D2 B9D1
38 nephronophthisis 14 9.3 TMEM67 RPGRIP1L NPHP1 CEP290 CC2D2A B9D1
39 joubert syndrome 9 9.3 TMEM67 TMEM216 RPGRIP1L CEP290 CC2D2A ARL13B
40 nephronophthisis 7 9.3 TMEM67 RPGRIP1L NPHP1 MKS1 CEP290 CC2D2A
41 bardet-biedl syndrome 14 9.2 TMEM67 TMEM216 RPGRIP1L MKS1 CEP290 CC2D2A
42 short-rib thoracic dysplasia 1 with or without polydactyly 9.2 TMEM67 RPGRIP1L NPHP1 CC2D2A ARL13B AHI1
43 apraxia 9.1 TMEM67 TMEM216 RPGRIP1L NPHP1 CEP290 CC2D2A
44 joubert syndrome 24 9.1 RPGRIP1L NPHP1 CEP290 B9D1 ARL13B AHI1
45 nephronophthisis 11 9.0 TMEM67 TMEM216 RPGRIP1L NPHP1 MKS1 CEP290
46 joubert syndrome 10 9.0 TMEM67 TMEM216 RPGRIP1L NPHP1 CC2D2A ARL13B
47 nephronophthisis 1 8.9 NPHP1 MKS1 B9D2 B9D1 AHI1
48 orofaciodigital syndrome 8.8 TMEM67 TMEM216 NPHP1 MKS1 CEP290 CC2D2A
49 encephalocele 8.8 TMEM67 MKS1 CEP290 CC2D2A B9D2 B9D1
50 joubert syndrome 8 8.7 TMEM67 TMEM216 RPGRIP1L NPHP1 CEP290 CC2D2A

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



Diseases related to Joubert Syndrome 7

Symptoms & Phenotypes for Joubert Syndrome 7

Human phenotypes related to Joubert Syndrome 7:

31 (show all 20)
# Description HPO Frequency 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 renal cyst 31 HP:0000107
8 hypoplasia of the brainstem 31 HP:0002365
9 central apnea 31 HP:0002871
10 generalized hypotonia 31 HP:0001290
11 episodic tachypnea 31 HP:0002876
12 nephronophthisis 31 HP:0000090
13 postaxial hand polydactyly 31 HP:0001162
14 encephalocele 31 HP:0002084
15 oculomotor apraxia 31 HP:0000657
16 retinal dystrophy 31 HP:0000556
17 molar tooth sign on mri 31 HP:0002419
18 abnormal corpus callosum morphology 31 HP:0001273
19 brainstem dysplasia 31 HP:0002508
20 neonatal breathing dysregulation 31 HP:0002790

Symptoms via clinical synopsis from OMIM:

56
Skeletal Spine:
scoliosis

Neurologic Central Nervous System:
ataxia
hypoplasia of the brainstem
encephalocele
hypotonia
mental retardation
more
Genitourinary Kidneys:
nephronophthisis
renal cysts
impaired renal function

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

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

Skeletal Hands:
polydactyly, postaxial

Clinical features from OMIM:

611560

UMLS symptoms related to Joubert Syndrome 7:


ataxia

MGI Mouse Phenotypes related to Joubert Syndrome 7:

45 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.21 AHI1 ARL13B B9D1 B9D2 CC2D2A CEP290
2 growth/size/body region MP:0005378 10.09 AHI1 ARL13B B9D1 B9D2 CC2D2A CEP290
3 cardiovascular system MP:0005385 10.07 B9D1 B9D2 CC2D2A CEP290 MKS1 RPGRIP1L
4 craniofacial MP:0005382 10.04 B9D1 B9D2 CC2D2A CEP290 MKS1 RPGRIP1L
5 embryo MP:0005380 10 ARL13B B9D1 B9D2 CC2D2A MKS1 RPGRIP1L
6 nervous system MP:0003631 10 AHI1 ARL13B B9D1 B9D2 CC2D2A CEP290
7 mortality/aging MP:0010768 9.97 AHI1 ARL13B B9D1 B9D2 CC2D2A CEP290
8 digestive/alimentary MP:0005381 9.95 B9D1 B9D2 CC2D2A MKS1 RPGRIP1L TMEM67
9 limbs/digits/tail MP:0005371 9.88 B9D1 B9D2 CC2D2A MKS1 RPGRIP1L TMEM67
10 liver/biliary system MP:0005370 9.85 B9D1 B9D2 CEP290 MKS1 RPGRIP1L TMEM67
11 renal/urinary system MP:0005367 9.85 AHI1 ARL13B B9D1 B9D2 CC2D2A CEP290
12 respiratory system MP:0005388 9.43 ARL13B B9D2 CC2D2A CEP290 MKS1 RPGRIP1L
13 vision/eye MP:0005391 9.28 AHI1 B9D1 B9D2 CC2D2A CEP290 MKS1

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:

40
Eye, Kidney, Liver, Brain

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. 56 6
18565097 2008
2
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. 56 6
17558407 2007
3
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. 56 6
17558409 2007
4
Exome sequencing can improve diagnosis and alter patient management. 6
22700954 2012
5
Clinical utility gene card for: Joubert syndrome. 6
21448235 2011
6
Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. 6
21633164 2011
7
Joubert Syndrome 6
20301500 2003

Variations for Joubert Syndrome 7

ClinVar genetic disease variations for Joubert Syndrome 7:

6 (show all 28) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RPGRIP1L NM_015272.5(RPGRIP1L):c.3701+1G>TSNV Pathogenic 217695 rs863225219 16:53644878-53644878 16:53610966-53610966
2 RPGRIP1L NM_015272.5(RPGRIP1L):c.3529C>T (p.Arg1177Ter)SNV Pathogenic 217694 rs778533826 16:53653024-53653024 16:53619112-53619112
3 RPGRIP1L NM_015272.5(RPGRIP1L):c.2305-1G>ASNV Pathogenic 217690 rs863225215 16:53679916-53679916 16:53646004-53646004
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.1243+1G>ASNV Pathogenic 217693 rs863225218 16:53698781-53698781 16:53664869-53664869
6 RPGRIP1L NM_015272.5(RPGRIP1L):c.1132del (p.Trp378fs)deletion Pathogenic 217692 rs863225217 16:53698893-53698893 16:53664981-53664981
7 RPGRIP1L NM_015272.5(RPGRIP1L):c.757C>T (p.Gln253Ter)SNV Pathogenic 1070 rs121918199 16:53720364-53720364 16:53686452-53686452
8 RPGRIP1L RPGRIP1L, 1-BP DEL, 1721Adeletion Pathogenic 1075
9 RPGRIP1L NM_015272.5(RPGRIP1L):c.2050C>T (p.Gln684Ter)SNV Pathogenic 1076 rs121918204 16:53686549-53686549 16:53652637-53652637
10 RPGRIP1L NM_015272.5(RPGRIP1L):c.2269del (p.Thr757fs)deletion Pathogenic 1077 rs387906243 16:53682911-53682911 16:53648999-53648999
11 RPGRIP1L NM_015272.5(RPGRIP1L):c.2413C>T (p.Arg805Ter)SNV Pathogenic 1079 rs145665129 16:53679807-53679807 16:53645895-53645895
12 RPGRIP1L NM_015272.5(RPGRIP1L):c.1975T>C (p.Ser659Pro)SNV Pathogenic 1080 rs267607020 16:53686624-53686624 16:53652712-53652712
13 RPGRIP1L NM_015272.5(RPGRIP1L):c.1709dup (p.Asp571fs)duplication Pathogenic 188192 rs778149316 16:53686889-53686890 16:53652977-53652978
14 RPGRIP1L NM_015272.5(RPGRIP1L):c.1843A>C (p.Thr615Pro)SNV Pathogenic 1069 rs121918198 16:53686756-53686756 16:53652844-53652844
15 RPGRIP1L NM_015272.5(RPGRIP1L):c.2083G>C (p.Ala695Pro)SNV Pathogenic 1071 rs121918200 16:53686516-53686516 16:53652604-53652604
16 RPGRIP1L NM_015272.5(RPGRIP1L):c.118C>T (p.Gln40Ter)SNV Pathogenic 438669 rs1555616593 16:53730175-53730175 16:53696263-53696263
17 RPGRIP1L NM_015272.5(RPGRIP1L):c.3297_3298TC[3] (p.Ala1101fs)short repeat Likely pathogenic 208609 rs797045104 16:53656262-53656263 16:53622350-53622351
18 RPGRIP1L NM_015272.5(RPGRIP1L):c.1158dup (p.Val387fs)duplication Likely pathogenic 212060 rs797045918 16:53698866-53698867 16:53664954-53664955
19 RPGRIP1L NM_015272.5(RPGRIP1L):c.3594G>A (p.Trp1198Ter)SNV Likely pathogenic 635022 rs1567800920 16:53652959-53652959 16:53619047-53619047
20 RPGRIP1L NM_015272.5(RPGRIP1L):c.1660C>A (p.Leu554Ile)SNV Conflicting interpretations of pathogenicity 423510 rs79524027 16:53690423-53690423 16:53656511-53656511
21 RPGRIP1L NM_015272.5(RPGRIP1L):c.2614C>T (p.Gln872Ter)SNV Conflicting interpretations of pathogenicity 1074 rs121918203 16:53679606-53679606 16:53645694-53645694
22 RPGRIP1L NM_015272.5(RPGRIP1L):c.2932G>A (p.Val978Met)SNV Uncertain significance 530904 rs367845452 16:53674971-53674971 16:53641059-53641059
23 RPGRIP1L NM_015272.5(RPGRIP1L):c.1156A>G (p.Lys386Glu)SNV Uncertain significance 193717 rs137982921 16:53698869-53698869 16:53664957-53664957
24 RPGRIP1L NM_015272.5(RPGRIP1L):c.3706C>T (p.Arg1236Cys)SNV Uncertain significance 235636 rs151332923 16:53639522-53639522 16:53605610-53605610
25 RPGRIP1L NM_015272.5(RPGRIP1L):c.1810G>A (p.Glu604Lys)SNV Uncertain significance 289611 rs143863631 16:53686789-53686789 16:53652877-53652877
26 RPGRIP1L NM_015272.5(RPGRIP1L):c.251G>A (p.Arg84Gln)SNV Uncertain significance 319668 rs151212590 16:53726256-53726256 16:53692344-53692344
27 RPGRIP1L NM_015272.5(RPGRIP1L):c.1772T>C (p.Val591Ala)SNV Uncertain significance 406249 rs201131571 16:53686827-53686827 16:53652915-53652915
28 RPGRIP1L NM_015272.5(RPGRIP1L):c.697A>T (p.Lys233Ter)SNV Uncertain significance 1068 rs121918197 16:53720424-53720424 16:53686512-53686512

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

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

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.21 TMEM67 TMEM216 RPGRIP1L NPHP1 MKS1 CEP290
2 cytosol GO:0005829 10.18 TMEM216 RPGRIP1L NPHP1 MKS1 CEP290 CC2D2A
3 cytoskeleton GO:0005856 10.02 TMEM67 TMEM216 RPGRIP1L NPHP1 MKS1 CEP290
4 centrosome GO:0005813 9.95 TMEM67 RPGRIP1L MKS1 CEP290 B9D2 B9D1
5 MKS complex GO:0036038 9.86 TMEM67 TMEM216 MKS1 CEP290 CC2D2A B9D2
6 ciliary basal body GO:0036064 9.85 RPGRIP1L MKS1 CEP290 B9D2 B9D1 AHI1
7 ciliary transition zone GO:0035869 9.81 TMEM67 TMEM216 RPGRIP1L NPHP1 MKS1 CEP290
8 photoreceptor connecting cilium GO:0032391 9.73 RPGRIP1L RPGRIP1 NPHP1 CEP290
9 cell-cell junction GO:0005911 9.71 RPGRIP1L NPHP1 AHI1
10 cilium GO:0005929 9.7 TMEM67 TMEM216 RPGRIP1L RPGRIP1 NPHP1 MKS1
11 centriole GO:0005814 9.67 MKS1 CEP290 AHI1
12 axoneme GO:0005930 9.65 RPGRIP1L RPGRIP1 ARL13B
13 non-motile cilium GO:0097730 9.63 RPGRIP1 ARL13B AHI1
14 cell projection GO:0042995 9.4 TMEM67 TMEM216 RPGRIP1L RPGRIP1 NPHP1 MKS1

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 cell projection organization GO:0030030 9.81 TMEM67 TMEM216 NPHP1 MKS1 CEP290 CC2D2A
2 determination of left/right symmetry GO:0007368 9.67 RPGRIP1L MKS1 CC2D2A ARL13B
3 non-motile cilium assembly GO:1905515 9.65 TMEM216 RPGRIP1L MKS1 CC2D2A ARL13B
4 ciliary basal body-plasma membrane docking GO:0097711 9.65 TMEM67 TMEM216 RPGRIP1L NPHP1 MKS1 CEP290
5 smoothened signaling pathway GO:0007224 9.62 MKS1 CC2D2A B9D1 ARL13B
6 camera-type eye development GO:0043010 9.61 RPGRIP1L CC2D2A B9D1
7 regulation of smoothened signaling pathway GO:0008589 9.55 RPGRIP1L MKS1
8 motile cilium assembly GO:0044458 9.54 MKS1 CC2D2A
9 hindbrain development GO:0030902 9.52 CEP290 AHI1
10 head development GO:0060322 9.51 RPGRIP1L MKS1
11 eye photoreceptor cell development GO:0042462 9.49 RPGRIP1 CEP290
12 left/right axis specification GO:0070986 9.48 ARL13B AHI1
13 embryonic brain development GO:1990403 9.46 MKS1 CC2D2A
14 neural tube patterning GO:0021532 9.4 RPGRIP1L ARL13B
15 cilium assembly GO:0060271 9.32 TMEM67 TMEM216 RPGRIP1L MKS1 CEP290 CC2D2A

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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