JBTS8
MCID: JBR013
MIFTS: 26

Joubert Syndrome 8 (JBTS8)

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

Aliases & Classifications for Joubert Syndrome 8

MalaCards integrated aliases for Joubert Syndrome 8:

Name: Joubert Syndrome 8 58 12 76 30 13 6 45 15 74
Jbts8 58 12 76
Joubert Syndrome, Type 8 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
joubert syndrome 8:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Joubert Syndrome 8

UniProtKB/Swiss-Prot : 76 Joubert syndrome 8: 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 8, also known as jbts8, is related to joubert syndrome 1, and has symptoms including ataxia An important gene associated with Joubert Syndrome 8 is ARL13B (ADP Ribosylation Factor Like GTPase 13B). Affiliated tissues include eye and liver, and related phenotypes are occipital encephalocele and obesity

Disease Ontology : 12 A Joubert syndrome that has material basis in mutation in the ARL13B gene on chromosome 3q11.1-q11.2.

Description from OMIM: 612291

Related Diseases for Joubert Syndrome 8

Symptoms & Phenotypes for Joubert Syndrome 8

Human phenotypes related to Joubert Syndrome 8:

33 (show all 11)
# Description HPO Frequency HPO Source Accession
1 occipital encephalocele 33 occasional (7.5%) HP:0002085
2 obesity 33 HP:0001513
3 intellectual disability 33 HP:0001249
4 ataxia 33 HP:0001251
5 muscular hypotonia 33 HP:0001252
6 global developmental delay 33 HP:0001263
7 optic disc pallor 33 HP:0000543
8 generalized hypotonia 33 HP:0001290
9 oculomotor apraxia 33 HP:0000657
10 molar tooth sign on mri 33 HP:0002419
11 pigmentary retinopathy 33 HP:0000580

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
ataxia
oculomotor apraxia
hypotonia
mental retardation
psychomotor delay
more
Growth Weight:
obesity (in 1 patient)

Head And Neck Eyes:
optic disc pallor
pigmentary retinopathy
abnormal eye movements
extinguished erg

Respiratory:
breathing anomalies

Clinical features from OMIM:

612291

UMLS symptoms related to Joubert Syndrome 8:


ataxia

Drugs & Therapeutics for Joubert Syndrome 8

Search Clinical Trials , NIH Clinical Center for Joubert Syndrome 8

Cochrane evidence based reviews: joubert syndrome 8

Genetic Tests for Joubert Syndrome 8

Genetic tests related to Joubert Syndrome 8:

# Genetic test Affiliating Genes
1 Joubert Syndrome 8 30 ARL13B

Anatomical Context for Joubert Syndrome 8

MalaCards organs/tissues related to Joubert Syndrome 8:

42
Eye, Liver

Publications for Joubert Syndrome 8

Articles related to Joubert Syndrome 8:

# Title Authors Year
1
Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity. ( 25138100 )
2015
2
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome. ( 18674751 )
2008

Variations for Joubert Syndrome 8

UniProtKB/Swiss-Prot genetic disease variations for Joubert Syndrome 8:

76
# Symbol AA change Variation ID SNP ID
1 ARL13B p.Arg79Gln VAR_054371 rs121912606
2 ARL13B p.Arg200Cys VAR_054372 rs121912608
3 ARL13B p.Tyr86Cys VAR_077496 rs863225430

ClinVar genetic disease variations for Joubert Syndrome 8:

6 (show all 38)
# Gene Variation Type Significance SNP ID Assembly Location
1 ARL13B NM_182896.2(ARL13B): c.236G> A (p.Arg79Gln) single nucleotide variant Pathogenic rs121912606 GRCh37 Chromosome 3, 93722608: 93722608
2 ARL13B NM_182896.2(ARL13B): c.236G> A (p.Arg79Gln) single nucleotide variant Pathogenic rs121912606 GRCh38 Chromosome 3, 94003764: 94003764
3 ARL13B NM_182896.2(ARL13B): c.246G> A (p.Trp82Ter) single nucleotide variant Pathogenic rs121912607 GRCh37 Chromosome 3, 93722618: 93722618
4 ARL13B NM_182896.2(ARL13B): c.246G> A (p.Trp82Ter) single nucleotide variant Pathogenic rs121912607 GRCh38 Chromosome 3, 94003774: 94003774
5 ARL13B NM_182896.2(ARL13B): c.598C> T (p.Arg200Cys) single nucleotide variant Pathogenic rs121912608 GRCh37 Chromosome 3, 93755507: 93755507
6 ARL13B NM_182896.2(ARL13B): c.598C> T (p.Arg200Cys) single nucleotide variant Pathogenic rs121912608 GRCh38 Chromosome 3, 94036663: 94036663
7 ARL13B NM_182896.2(ARL13B): c.1043C> G (p.Thr348Ser) single nucleotide variant Benign/Likely benign rs33944211 GRCh37 Chromosome 3, 93768268: 93768268
8 ARL13B NM_182896.2(ARL13B): c.1043C> G (p.Thr348Ser) single nucleotide variant Benign/Likely benign rs33944211 GRCh38 Chromosome 3, 94049424: 94049424
9 ARL13B NM_182896.2(ARL13B): c.105C> T (p.Thr35=) single nucleotide variant Benign/Likely benign rs146396078 GRCh37 Chromosome 3, 93714763: 93714763
10 ARL13B NM_182896.2(ARL13B): c.105C> T (p.Thr35=) single nucleotide variant Benign/Likely benign rs146396078 GRCh38 Chromosome 3, 93995919: 93995919
11 ARL13B NM_182896.2(ARL13B): c.1186C> G (p.Pro396Ala) single nucleotide variant Benign/Likely benign rs11554412 GRCh37 Chromosome 3, 93769712: 93769712
12 ARL13B NM_182896.2(ARL13B): c.1186C> G (p.Pro396Ala) single nucleotide variant Benign/Likely benign rs11554412 GRCh38 Chromosome 3, 94050868: 94050868
13 ARL13B NM_182896.2(ARL13B): c.65T> G (p.Val22Gly) single nucleotide variant Pathogenic rs863225149 GRCh38 Chromosome 3, 93995879: 93995879
14 ARL13B NM_182896.2(ARL13B): c.65T> G (p.Val22Gly) single nucleotide variant Pathogenic rs863225149 GRCh37 Chromosome 3, 93714723: 93714723
15 ARL13B NM_182896.2(ARL13B): c.461A> G (p.Asn154Ser) single nucleotide variant Pathogenic rs758972393 GRCh37 Chromosome 3, 93754255: 93754255
16 ARL13B NM_182896.2(ARL13B): c.461A> G (p.Asn154Ser) single nucleotide variant Pathogenic rs758972393 GRCh38 Chromosome 3, 94035411: 94035411
17 ARL13B NM_182896.2(ARL13B): c.257A> G (p.Tyr86Cys) single nucleotide variant Pathogenic rs863225430 GRCh37 Chromosome 3, 93722629: 93722629
18 ARL13B NM_182896.2(ARL13B): c.257A> G (p.Tyr86Cys) single nucleotide variant Pathogenic rs863225430 GRCh38 Chromosome 3, 94003785: 94003785
19 ARL13B NM_182896.2(ARL13B): c.1151G> A (p.Gly384Glu) single nucleotide variant Uncertain significance rs146264035 GRCh38 Chromosome 3, 94050833: 94050833
20 ARL13B NM_182896.2(ARL13B): c.1151G> A (p.Gly384Glu) single nucleotide variant Uncertain significance rs146264035 GRCh37 Chromosome 3, 93769677: 93769677
21 ARL13B NM_182896.2(ARL13B): c.1045A> G (p.Lys349Glu) single nucleotide variant Uncertain significance rs139063474 GRCh38 Chromosome 3, 94049426: 94049426
22 ARL13B NM_182896.2(ARL13B): c.1045A> G (p.Lys349Glu) single nucleotide variant Uncertain significance rs139063474 GRCh37 Chromosome 3, 93768270: 93768270
23 ARL13B NM_182896.2(ARL13B): c.1261A> G (p.Ser421Gly) single nucleotide variant Uncertain significance rs112062713 GRCh37 Chromosome 3, 93772081: 93772081
24 ARL13B NM_182896.2(ARL13B): c.1261A> G (p.Ser421Gly) single nucleotide variant Uncertain significance rs112062713 GRCh38 Chromosome 3, 94053237: 94053237
25 ARL13B NM_182896.2(ARL13B): c.720C> T (p.Leu240=) single nucleotide variant Likely benign rs752196300 GRCh37 Chromosome 3, 93758754: 93758754
26 ARL13B NM_182896.2(ARL13B): c.720C> T (p.Leu240=) single nucleotide variant Likely benign rs752196300 GRCh38 Chromosome 3, 94039910: 94039910
27 ARL13B NM_182896.2(ARL13B): c.775C> T (p.Pro259Ser) single nucleotide variant Uncertain significance rs538624288 GRCh37 Chromosome 3, 93758809: 93758809
28 ARL13B NM_182896.2(ARL13B): c.775C> T (p.Pro259Ser) single nucleotide variant Uncertain significance rs538624288 GRCh38 Chromosome 3, 94039965: 94039965
29 ARL13B NM_182896.2(ARL13B): c.715G> A (p.Glu239Lys) single nucleotide variant Uncertain significance rs778540135 GRCh37 Chromosome 3, 93758749: 93758749
30 ARL13B NM_182896.2(ARL13B): c.715G> A (p.Glu239Lys) single nucleotide variant Uncertain significance rs778540135 GRCh38 Chromosome 3, 94039905: 94039905
31 ARL13B NM_182896.2(ARL13B): c.501A> C (p.Ala167=) single nucleotide variant Likely benign rs774807971 GRCh38 Chromosome 3, 94036566: 94036566
32 ARL13B NM_182896.2(ARL13B): c.501A> C (p.Ala167=) single nucleotide variant Likely benign rs774807971 GRCh37 Chromosome 3, 93755410: 93755410
33 ARL13B NM_182896.2(ARL13B): c.1253G> A (p.Arg418Gln) single nucleotide variant Uncertain significance rs142510905 GRCh37 Chromosome 3, 93772073: 93772073
34 ARL13B NM_182896.2(ARL13B): c.1253G> A (p.Arg418Gln) single nucleotide variant Uncertain significance rs142510905 GRCh38 Chromosome 3, 94053229: 94053229
35 ARL13B NM_182896.2(ARL13B): c.393_396delACAA (p.Gln132Ilefs) deletion Pathogenic GRCh38 Chromosome 3, 94035343: 94035346
36 ARL13B NM_182896.2(ARL13B): c.393_396delACAA (p.Gln132Ilefs) deletion Pathogenic GRCh37 Chromosome 3, 93754187: 93754190
37 ARL13B NM_182896.2(ARL13B): c.682G> A (p.Glu228Lys) single nucleotide variant Uncertain significance GRCh37 Chromosome 3, 93755591: 93755591
38 ARL13B NM_182896.2(ARL13B): c.682G> A (p.Glu228Lys) single nucleotide variant Uncertain significance GRCh38 Chromosome 3, 94036747: 94036747

Expression for Joubert Syndrome 8

Search GEO for disease gene expression data for Joubert Syndrome 8.

Pathways for Joubert Syndrome 8

GO Terms for Joubert Syndrome 8

Cellular components related to Joubert Syndrome 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 8.62 ARL13B KIAA0556

Sources for Joubert Syndrome 8

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
32 HMDB
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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