JBTS25
MCID: JBR036
MIFTS: 31

Joubert Syndrome 25 (JBTS25)

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

Aliases & Classifications for Joubert Syndrome 25

MalaCards integrated aliases for Joubert Syndrome 25:

Name: Joubert Syndrome 25 57 12 72 29 6 15
Jbts25 57 12 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
three unrelated patients have been reported (last curated february 2016)


HPO:

31
joubert syndrome 25:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0110994
OMIM® 57 616781
OMIM Phenotypic Series 57 PS213300

Summaries for Joubert Syndrome 25

UniProtKB/Swiss-Prot : 72 Joubert syndrome 25: A form of Joubert syndrome, 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, renal disease, liver fibrosis, and polydactyly. JBTS25 clinical manifestations appear to be confined to the neurologic system. JBTS25 inheritance is autosomal recessive.

MalaCards based summary : Joubert Syndrome 25, also known as jbts25, is related to cerebellar malformation and oculomotor apraxia. An important gene associated with Joubert Syndrome 25 is CEP104 (Centrosomal Protein 104). Related phenotypes are ataxia and global developmental delay

Disease Ontology : 12 A Joubert syndrome characterized by delayed psychomotor development, oculomotor apraxia, and molar tooth sign on brain MRI that has material basis in homozygous or compound heterozygous mutation in the CEP104 gene on chromosome 1p36.

OMIM® : 57 Joubert syndrome-25 is an autosomal recessive ciliopathy characterized by delayed psychomotor development and oculomotor apraxia associated with cerebellar hypoplasia manifest as the molar tooth sign on brain imaging. The clinical manifestations appear to be confined to the neurologic system, as patients tend not to have additional renal, liver, or limb involvement (summary by Srour et al., 2015) For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see 213300. (616781) (Updated 05-Apr-2021)

Related Diseases for Joubert Syndrome 25

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
Joubert Syndrome 37

Diseases related to Joubert Syndrome 25 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 18)
# Related Disease Score Top Affiliating Genes
1 cerebellar malformation 10.1 KATNIP CEP104
2 oculomotor apraxia 9.9 CSPP1 CEP104
3 ciliopathy 9.9 KIF7 KATNIP
4 apraxia 9.9 CSPP1 CEP104
5 senior-loken syndrome 1 9.9 CEP97 CEP104
6 acrocallosal syndrome 9.9 KIF7 KATNIP
7 aceruloplasminemia 9.9 KIF7 CEP104
8 coach syndrome 1 9.8 KIF7 CSPP1
9 coloboma of macula 9.7 KIF7 CSPP1
10 asphyxiating thoracic dystrophy 9.7 KIF7 CSPP1 CEP104
11 bardet-biedl syndrome 1 9.6 KIF7 CEP97
12 meckel syndrome, type 1 9.6 KIF7 CSPP1 CEP97
13 nephronophthisis 9.6 KIF7 CSPP1 CEP97
14 short-rib thoracic dysplasia 1 with or without polydactyly 9.4 KIF7 KATNIP CSPP1 CEP104
15 fundus dystrophy 9.4 KIF7 KATNIP CSPP1 CEP97
16 joubert syndrome 26 9.2 KIF7 KATNIP CSPP1 CEP97 CEP104
17 joubert syndrome 21 8.7 KIF7 KATNIP CSPP1 CKAP5 CEP97 CEP104
18 joubert syndrome 1 8.7 KIF7 KATNIP CSPP1 CKAP5 CEP97 CEP104

Graphical network of the top 20 diseases related to Joubert Syndrome 25:



Diseases related to Joubert Syndrome 25

Symptoms & Phenotypes for Joubert Syndrome 25

Human phenotypes related to Joubert Syndrome 25:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 ataxia 31 very rare (1%) HP:0001251
2 global developmental delay 31 very rare (1%) HP:0001263
3 abnormal electroretinogram 31 very rare (1%) HP:0000512
4 molar tooth sign on mri 31 very rare (1%) HP:0002419
5 oculomotor apraxia 31 very rare (1%) HP:0000657
6 generalized hypotonia 31 very rare (1%) HP:0001290
7 cerebellar hypoplasia 31 HP:0001321

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
cerebellar hypoplasia
molar tooth sign
delayed psychomotor development, severe
ataxia (in some patients)

Muscle Soft Tissue:
hypotonia (in some patients)

Head And Neck Eyes:
oculomotor apraxia
abnormal electroretinogram (in some patients)

Respiratory:
respiratory abnormalities (in some patients)

Clinical features from OMIM®:

616781 (Updated 05-Apr-2021)

Drugs & Therapeutics for Joubert Syndrome 25

Search Clinical Trials , NIH Clinical Center for Joubert Syndrome 25

Genetic Tests for Joubert Syndrome 25

Genetic tests related to Joubert Syndrome 25:

# Genetic test Affiliating Genes
1 Joubert Syndrome 25 29 CEP104

Anatomical Context for Joubert Syndrome 25

Publications for Joubert Syndrome 25

Articles related to Joubert Syndrome 25:

# Title Authors PMID Year
1
Joubert Syndrome in French Canadians and Identification of Mutations in CEP104. 6 57
26477546 2015

Variations for Joubert Syndrome 25

ClinVar genetic disease variations for Joubert Syndrome 25:

6 (show top 50) (show all 51)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CEP104 NM_014704.4(CEP104):c.1328_1329insT (p.Tyr444fs) Insertion Pathogenic 221275 rs869025277 GRCh37: 1:3751645-3751646
GRCh38: 1:3835081-3835082
2 CEP104 NM_014704.4(CEP104):c.496C>T (p.Arg166Ter) SNV Pathogenic 221276 rs374574638 GRCh37: 1:3761541-3761541
GRCh38: 1:3844977-3844977
3 CEP104 NM_014704.4(CEP104):c.735+2T>C SNV Pathogenic 221274 rs869025276 GRCh37: 1:3756170-3756170
GRCh38: 1:3839606-3839606
4 CEP104 NM_014704.4(CEP104):c.2572-2A>G SNV Pathogenic 221277 rs869025278 GRCh37: 1:3732936-3732936
GRCh38: 1:3816372-3816372
5 CEP104 NC_000001.11:g.(?_3815382)_(3852427_?)del Deletion Pathogenic 665628 GRCh37: 1:3731946-3768991
GRCh38: 1:3815382-3852427
6 CEP104 NM_014704.4(CEP104):c.1003C>T (p.Gln335Ter) SNV Pathogenic 1030347 GRCh37: 1:3753972-3753972
GRCh38: 1:3837408-3837408
7 CEP104 NM_014704.4(CEP104):c.759T>G (p.Tyr253Ter) SNV Pathogenic 542192 rs372048855 GRCh37: 1:3755660-3755660
GRCh38: 1:3839096-3839096
8 CEP104 NM_014704.4(CEP104):c.1082_1091del (p.Pro361fs) Deletion Pathogenic 542193 rs776094913 GRCh37: 1:3753884-3753893
GRCh38: 1:3837320-3837329
9 CEP104 NM_014704.4(CEP104):c.49del (p.Asp17fs) Deletion Likely pathogenic 434718 rs1334483830 GRCh37: 1:3768923-3768923
GRCh38: 1:3852359-3852359
10 CEP104 NM_014704.4(CEP104):c.664C>T (p.Arg222Trp) SNV Uncertain significance 542195 rs142899837 GRCh37: 1:3756243-3756243
GRCh38: 1:3839679-3839679
11 CEP104 NM_014704.4(CEP104):c.781G>A (p.Val261Met) SNV Uncertain significance 542196 rs768279838 GRCh37: 1:3755638-3755638
GRCh38: 1:3839074-3839074
12 CEP104 NM_014704.4(CEP104):c.2737G>A (p.Gly913Arg) SNV Uncertain significance 569168 rs201733773 GRCh37: 1:3732007-3732007
GRCh38: 1:3815443-3815443
13 CEP104 NM_014704.4(CEP104):c.1120-5T>A SNV Uncertain significance 643732 rs200748628 GRCh37: 1:3753261-3753261
GRCh38: 1:3836697-3836697
14 CEP104 NM_014704.4(CEP104):c.485A>G (p.Asn162Ser) SNV Uncertain significance 647427 rs867268929 GRCh37: 1:3761857-3761857
GRCh38: 1:3845293-3845293
15 CEP104 NM_014704.4(CEP104):c.1485C>T (p.Ser495=) SNV Uncertain significance 859035 GRCh37: 1:3751489-3751489
GRCh38: 1:3834925-3834925
16 CEP104 NM_014704.4(CEP104):c.2423G>A (p.Gly808Glu) SNV Uncertain significance 862244 GRCh37: 1:3740068-3740068
GRCh38: 1:3823504-3823504
17 CEP104 NM_014704.4(CEP104):c.932G>A (p.Arg311His) SNV Uncertain significance 965820 GRCh37: 1:3754043-3754043
GRCh38: 1:3837479-3837479
18 CEP104 NM_014704.4(CEP104):c.2441G>A (p.Arg814His) SNV Uncertain significance 967846 GRCh37: 1:3740050-3740050
GRCh38: 1:3823486-3823486
19 CEP104 NM_014704.4(CEP104):c.2182A>G (p.Asn728Asp) SNV Uncertain significance 970495 GRCh37: 1:3743278-3743278
GRCh38: 1:3826714-3826714
20 CEP104 NM_014704.4(CEP104):c.1217G>A (p.Ser406Asn) SNV Uncertain significance 663561 rs1570811185 GRCh37: 1:3753159-3753159
GRCh38: 1:3836595-3836595
21 CEP104 NM_014704.4(CEP104):c.278G>A (p.Arg93Gln) SNV Uncertain significance 953566 GRCh37: 1:3765181-3765181
GRCh38: 1:3848617-3848617
22 CEP104 NM_014704.4(CEP104):c.22G>T (p.Val8Leu) SNV Uncertain significance 949657 GRCh37: 1:3768950-3768950
GRCh38: 1:3852386-3852386
23 CEP104 NM_014704.4(CEP104):c.2571+6G>A SNV Uncertain significance 952395 GRCh37: 1:3739732-3739732
GRCh38: 1:3823168-3823168
24 CEP104 NM_014704.4(CEP104):c.272G>A (p.Arg91Gln) SNV Uncertain significance 1021948 GRCh37: 1:3765187-3765187
GRCh38: 1:3848623-3848623
25 CEP104 NM_014704.4(CEP104):c.2644G>T (p.Ala882Ser) SNV Uncertain significance 475462 rs185664269 GRCh37: 1:3732862-3732862
GRCh38: 1:3816298-3816298
26 CEP104 NM_014704.4(CEP104):c.1588A>G (p.Ile530Val) SNV Uncertain significance 859036 GRCh37: 1:3750497-3750497
GRCh38: 1:3833933-3833933
27 CEP104 NM_014704.4(CEP104):c.1550T>C (p.Leu517Pro) SNV Uncertain significance 863594 GRCh37: 1:3750535-3750535
GRCh38: 1:3833971-3833971
28 CEP104 NM_014704.4(CEP104):c.560A>G (p.Tyr187Cys) SNV Uncertain significance 971623 GRCh37: 1:3761477-3761477
GRCh38: 1:3844913-3844913
29 CEP104 NM_014704.4(CEP104):c.296_297CT[2] (p.Leu100_Cys101insTer) Microsatellite Uncertain significance 800522 rs1484807480 GRCh37: 1:3764164-3764165
GRCh38: 1:3847600-3847601
30 CEP104 NM_014704.4(CEP104):c.2447G>T (p.Ser816Ile) SNV Uncertain significance 1030348 GRCh37: 1:3740044-3740044
GRCh38: 1:3823480-3823480
31 CEP104 NM_014704.4(CEP104):c.2282G>A (p.Ser761Asn) SNV Uncertain significance 1031840 GRCh37: 1:3742404-3742404
GRCh38: 1:3825840-3825840
32 CEP104 NM_014704.4(CEP104):c.1297G>A (p.Asp433Asn) SNV Uncertain significance 1040155 GRCh37: 1:3753079-3753079
GRCh38: 1:3836515-3836515
33 CEP104 NM_014704.4(CEP104):c.719T>C (p.Ile240Thr) SNV Uncertain significance 1044082 GRCh37: 1:3756188-3756188
GRCh38: 1:3839624-3839624
34 CEP104 NM_014704.4(CEP104):c.2001A>G (p.Gly667=) SNV Likely benign 712340 rs767101698 GRCh37: 1:3746397-3746397
GRCh38: 1:3829833-3829833
35 CEP104 NM_014704.4(CEP104):c.2703A>G (p.Ser901=) SNV Likely benign 759566 rs369737290 GRCh37: 1:3732041-3732041
GRCh38: 1:3815477-3815477
36 CEP104 NM_014704.4(CEP104):c.588G>A (p.Pro196=) SNV Benign 767111 rs141751043 GRCh37: 1:3756319-3756319
GRCh38: 1:3839755-3839755
37 CEP104 NM_014704.4(CEP104):c.1340C>T (p.Thr447Met) SNV Benign 772166 rs138897239 GRCh37: 1:3751634-3751634
GRCh38: 1:3835070-3835070
38 CEP104 NM_014704.4(CEP104):c.2124A>G (p.Ala708=) SNV Benign 772361 rs139817583 GRCh37: 1:3745857-3745857
GRCh38: 1:3829293-3829293
39 CEP104 NM_014704.4(CEP104):c.1884G>T (p.Thr628=) SNV Benign 542194 rs12144567 GRCh37: 1:3746514-3746514
GRCh38: 1:3829950-3829950
40 CEP104 NM_014704.4(CEP104):c.1966C>T (p.Arg656Cys) SNV Benign 707355 rs148465057 GRCh37: 1:3746432-3746432
GRCh38: 1:3829868-3829868
41 CEP104 NM_014704.4(CEP104):c.490G>T (p.Ala164Ser) SNV Benign 707262 rs140856596 GRCh37: 1:3761547-3761547
GRCh38: 1:3844983-3844983
42 CEP104 NM_014704.4(CEP104):c.416T>C (p.Ile139Thr) SNV Benign 707474 rs76925798 GRCh37: 1:3764049-3764049
GRCh38: 1:3847485-3847485
43 CEP104 NM_014704.4(CEP104):c.2736C>T (p.Gly912=) SNV Benign 707534 rs148360595 GRCh37: 1:3732008-3732008
GRCh38: 1:3815444-3815444
44 CEP104 NM_014704.4(CEP104):c.1914A>G (p.Arg638=) SNV Benign 475460 rs2275829 GRCh37: 1:3746484-3746484
GRCh38: 1:3829920-3829920
45 CEP104 NM_014704.4(CEP104):c.1363C>T (p.Leu455=) SNV Benign 475457 rs115015364 GRCh37: 1:3751611-3751611
GRCh38: 1:3835047-3835047
46 CEP104 NM_014704.4(CEP104):c.552A>T (p.Glu184Asp) SNV Benign 475463 rs61745578 GRCh37: 1:3761485-3761485
GRCh38: 1:3844921-3844921
47 CEP104 NM_014704.4(CEP104):c.1386A>G (p.Leu462=) SNV Benign 475458 rs76234817 GRCh37: 1:3751588-3751588
GRCh38: 1:3835024-3835024
48 CEP104 NM_014704.4(CEP104):c.681G>A (p.Lys227=) SNV Benign 475464 rs61746709 GRCh37: 1:3756226-3756226
GRCh38: 1:3839662-3839662
49 CEP104 NM_014704.4(CEP104):c.2569G>A (p.Glu857Lys) SNV Benign 475461 rs111626991 GRCh37: 1:3739740-3739740
GRCh38: 1:3823176-3823176
50 CEP104 NM_014704.4(CEP104):c.177G>A (p.Leu59=) SNV Benign 475459 rs79859848 GRCh37: 1:3765282-3765282
GRCh38: 1:3848718-3848718

Expression for Joubert Syndrome 25

Search GEO for disease gene expression data for Joubert Syndrome 25.

Pathways for Joubert Syndrome 25

GO Terms for Joubert Syndrome 25

Cellular components related to Joubert Syndrome 25 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.8 KIF7 KATNIP CSPP1 CKAP5 CEP97 CEP104
2 centrosome GO:0005813 9.43 CSPP1 CKAP5 CEP97
3 spindle pole GO:0000922 9.33 CSPP1 CKAP5 CEP104
4 microtubule organizing center GO:0005815 9.26 CSPP1 CKAP5 CEP97 CEP104
5 cytoskeleton GO:0005856 9.1 KIF7 KATNIP CSPP1 CKAP5 CEP97 CEP104

Biological processes related to Joubert Syndrome 25 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ciliary basal body-plasma membrane docking GO:0097711 8.62 CKAP5 CEP97

Sources for Joubert Syndrome 25

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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