MCID: JBR011
MIFTS: 23

Joubert Syndrome 7

Categories: Genetic diseases, Nephrological diseases, Rare diseases, Neuronal diseases, Fetal diseases

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:



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

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 Frequency 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

Drugs & Therapeutics for Joubert Syndrome 7

Search Clinical Trials , NIH Clinical Center for 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

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

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 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
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....