MCID: JBR036
MIFTS: 20

Joubert Syndrome 25

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

Aliases & Classifications for Joubert Syndrome 25

MalaCards integrated aliases for Joubert Syndrome 25:

Name: Joubert Syndrome 25 57 12 75 29 6
Jbts25 57 12 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
joubert syndrome 25:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

OMIM 57 616781
Disease Ontology 12 DOID:0110994

Summaries for Joubert Syndrome 25

UniProtKB/Swiss-Prot : 75 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, is also known as jbts25. An important gene associated with Joubert Syndrome 25 is CEP104 (Centrosomal Protein 104). Affiliated tissues include liver and brain, and related phenotypes are abnormal electroretinogram and oculomotor apraxia

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)

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.

Symptoms & Phenotypes for Joubert Syndrome 25

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
oculomotor apraxia
abnormal electroretinogram (in some patients)

Muscle Soft Tissue:
hypotonia (in some patients)

Respiratory:
respiratory abnormalities (in some patients)

Neurologic Central Nervous System:
delayed psychomotor development, severe
ataxia (in some patients)
cerebellar hypoplasia
molar tooth sign


Clinical features from OMIM:

616781

Human phenotypes related to Joubert Syndrome 25:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 abnormal electroretinogram 32 very rare (1%) HP:0000512
2 oculomotor apraxia 32 very rare (1%) HP:0000657
3 ataxia 32 very rare (1%) HP:0001251
4 global developmental delay 32 very rare (1%) HP:0001263
5 generalized hypotonia 32 very rare (1%) HP:0001290
6 cerebellar hypoplasia 32 HP:0001321
7 molar tooth sign on mri 32 very rare (1%) HP:0002419

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

MalaCards organs/tissues related to Joubert Syndrome 25:

41
Liver, Brain

Publications for Joubert Syndrome 25

Variations for Joubert Syndrome 25

ClinVar genetic disease variations for Joubert Syndrome 25:

6
(show all 38)
# Gene Variation Type Significance SNP ID Assembly Location
1 CEP104 NM_014704.3(CEP104): c.735+2T> C single nucleotide variant Pathogenic rs869025276 GRCh37 Chromosome 1, 3756170: 3756170
2 CEP104 NM_014704.3(CEP104): c.735+2T> C single nucleotide variant Pathogenic rs869025276 GRCh38 Chromosome 1, 3839606: 3839606
3 CEP104 NM_014704.3(CEP104): c.1328_1329insT (p.Tyr444Leufs) insertion Pathogenic rs869025277 GRCh38 Chromosome 1, 3835081: 3835082
4 CEP104 NM_014704.3(CEP104): c.1328_1329insT (p.Tyr444Leufs) insertion Pathogenic rs869025277 GRCh37 Chromosome 1, 3751645: 3751646
5 CEP104 NM_014704.3(CEP104): c.496C> T (p.Arg166Ter) single nucleotide variant Pathogenic rs374574638 GRCh37 Chromosome 1, 3761541: 3761541
6 CEP104 NM_014704.3(CEP104): c.496C> T (p.Arg166Ter) single nucleotide variant Pathogenic rs374574638 GRCh38 Chromosome 1, 3844977: 3844977
7 CEP104 NM_014704.3(CEP104): c.2572-2A> G single nucleotide variant Pathogenic rs869025278 GRCh37 Chromosome 1, 3732936: 3732936
8 CEP104 NM_014704.3(CEP104): c.2572-2A> G single nucleotide variant Pathogenic rs869025278 GRCh38 Chromosome 1, 3816372: 3816372
9 CEP104 NM_014704.3(CEP104): c.49delG (p.Asp17Thrfs) deletion Likely pathogenic GRCh38 Chromosome 1, 3852359: 3852359
10 CEP104 NM_014704.3(CEP104): c.49delG (p.Asp17Thrfs) deletion Likely pathogenic GRCh37 Chromosome 1, 3768923: 3768923
11 CEP104 NM_014704.3(CEP104): c.2644G> T (p.Ala882Ser) single nucleotide variant Uncertain significance rs185664269 GRCh37 Chromosome 1, 3732862: 3732862
12 CEP104 NM_014704.3(CEP104): c.2644G> T (p.Ala882Ser) single nucleotide variant Uncertain significance rs185664269 GRCh38 Chromosome 1, 3816298: 3816298
13 CEP104 NM_014704.3(CEP104): c.1363C> T (p.Leu455=) single nucleotide variant Benign rs115015364 GRCh38 Chromosome 1, 3835047: 3835047
14 CEP104 NM_014704.3(CEP104): c.1363C> T (p.Leu455=) single nucleotide variant Benign rs115015364 GRCh37 Chromosome 1, 3751611: 3751611
15 CEP104 NM_014704.3(CEP104): c.1308A> T (p.Gly436=) single nucleotide variant Benign rs148455387 GRCh37 Chromosome 1, 3753068: 3753068
16 CEP104 NM_014704.3(CEP104): c.1308A> T (p.Gly436=) single nucleotide variant Benign rs148455387 GRCh38 Chromosome 1, 3836504: 3836504
17 CEP104 NM_014704.3(CEP104): c.681G> A (p.Lys227=) single nucleotide variant Benign rs61746709 GRCh38 Chromosome 1, 3839662: 3839662
18 CEP104 NM_014704.3(CEP104): c.681G> A (p.Lys227=) single nucleotide variant Benign rs61746709 GRCh37 Chromosome 1, 3756226: 3756226
19 CEP104 NM_014704.3(CEP104): c.1914A> G (p.Arg638=) single nucleotide variant Benign rs2275829 GRCh38 Chromosome 1, 3829920: 3829920
20 CEP104 NM_014704.3(CEP104): c.1914A> G (p.Arg638=) single nucleotide variant Benign rs2275829 GRCh37 Chromosome 1, 3746484: 3746484
21 CEP104 NM_014704.3(CEP104): c.1386A> G (p.Leu462=) single nucleotide variant Benign rs76234817 GRCh38 Chromosome 1, 3835024: 3835024
22 CEP104 NM_014704.3(CEP104): c.1386A> G (p.Leu462=) single nucleotide variant Benign rs76234817 GRCh37 Chromosome 1, 3751588: 3751588
23 CEP104 NM_014704.3(CEP104): c.2569G> A (p.Glu857Lys) single nucleotide variant Benign rs111626991 GRCh38 Chromosome 1, 3823176: 3823176
24 CEP104 NM_014704.3(CEP104): c.2569G> A (p.Glu857Lys) single nucleotide variant Benign rs111626991 GRCh37 Chromosome 1, 3739740: 3739740
25 CEP104 NM_014704.3(CEP104): c.177G> A (p.Leu59=) single nucleotide variant Benign rs79859848 GRCh37 Chromosome 1, 3765282: 3765282
26 CEP104 NM_014704.3(CEP104): c.177G> A (p.Leu59=) single nucleotide variant Benign rs79859848 GRCh38 Chromosome 1, 3848718: 3848718
27 CEP104 NM_014704.3(CEP104): c.552A> T (p.Glu184Asp) single nucleotide variant Benign rs61745578 GRCh38 Chromosome 1, 3844921: 3844921
28 CEP104 NM_014704.3(CEP104): c.552A> T (p.Glu184Asp) single nucleotide variant Benign rs61745578 GRCh37 Chromosome 1, 3761485: 3761485
29 CEP104 NM_014704.3(CEP104): c.664C> T (p.Arg222Trp) single nucleotide variant Uncertain significance rs142899837 GRCh37 Chromosome 1, 3756243: 3756243
30 CEP104 NM_014704.3(CEP104): c.664C> T (p.Arg222Trp) single nucleotide variant Uncertain significance rs142899837 GRCh38 Chromosome 1, 3839679: 3839679
31 CEP104 NM_014704.3(CEP104): c.759T> G (p.Tyr253Ter) single nucleotide variant Pathogenic rs372048855 GRCh37 Chromosome 1, 3755660: 3755660
32 CEP104 NM_014704.3(CEP104): c.759T> G (p.Tyr253Ter) single nucleotide variant Pathogenic rs372048855 GRCh38 Chromosome 1, 3839096: 3839096
33 CEP104 NM_014704.3(CEP104): c.1884G> T (p.Thr628=) single nucleotide variant Benign rs12144567 GRCh37 Chromosome 1, 3746514: 3746514
34 CEP104 NM_014704.3(CEP104): c.1884G> T (p.Thr628=) single nucleotide variant Benign rs12144567 GRCh38 Chromosome 1, 3829950: 3829950
35 CEP104 NM_014704.3(CEP104): c.1082_1091delCGTTACTCCC (p.Pro361Leufs) deletion Pathogenic GRCh37 Chromosome 1, 3753884: 3753893
36 CEP104 NM_014704.3(CEP104): c.1082_1091delCGTTACTCCC (p.Pro361Leufs) deletion Pathogenic GRCh38 Chromosome 1, 3837320: 3837329
37 CEP104 NM_014704.3(CEP104): c.781G> A (p.Val261Met) single nucleotide variant Uncertain significance rs768279838 GRCh37 Chromosome 1, 3755638: 3755638
38 CEP104 NM_014704.3(CEP104): c.781G> A (p.Val261Met) single nucleotide variant Uncertain significance rs768279838 GRCh38 Chromosome 1, 3839074: 3839074

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

Sources for Joubert Syndrome 25

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71 TGDB
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74 UMLS via Orphanet
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