MCID: JBR013
MIFTS: 20

Joubert Syndrome 8

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

Aliases & Classifications for Joubert Syndrome 8

MalaCards integrated aliases for Joubert Syndrome 8:

Name: Joubert Syndrome 8 57 12 75 29 13 6 73
Jbts8 57 12 75
Joubert Syndrome, Type 8 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
joubert syndrome 8:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Joubert Syndrome 8

UniProtKB/Swiss-Prot : 75 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, is also known as jbts8, 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 related phenotypes are obesity and intellectual disability

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

Symptoms & Phenotypes for Joubert Syndrome 8

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Joubert Syndrome 8:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 obesity 32 HP:0001513
2 intellectual disability 32 HP:0001249
3 ataxia 32 HP:0001251
4 muscular hypotonia 32 HP:0001252
5 global developmental delay 32 HP:0001263
6 oculomotor apraxia 32 HP:0000657
7 molar tooth sign on mri 32 HP:0002419
8 optic disc pallor 32 HP:0000543
9 occipital encephalocele 32 occasional (7.5%) HP:0002085
10 generalized hypotonia 32 HP:0001290
11 pigmentary retinopathy 32 HP:0000580

UMLS symptoms related to Joubert Syndrome 8:


ataxia

Drugs & Therapeutics for Joubert Syndrome 8

Search Clinical Trials , NIH Clinical Center for Joubert Syndrome 8

Genetic Tests for Joubert Syndrome 8

Genetic tests related to Joubert Syndrome 8:

# Genetic test Affiliating Genes
1 Joubert Syndrome 8 29 ARL13B

Anatomical Context for Joubert Syndrome 8

MalaCards organs/tissues related to Joubert Syndrome 8:

41
Eye

Publications for Joubert Syndrome 8

Variations for Joubert Syndrome 8

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

75
# 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 26)
# 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.1186C> G (p.Pro396Ala) single nucleotide variant Benign/Likely benign rs11554412 GRCh37 Chromosome 3, 93769712: 93769712
8 ARL13B NM_182896.2(ARL13B): c.1186C> G (p.Pro396Ala) single nucleotide variant Benign/Likely benign rs11554412 GRCh38 Chromosome 3, 94050868: 94050868
9 ARL13B NM_182896.2(ARL13B): c.65T> G (p.Val22Gly) single nucleotide variant Pathogenic rs863225149 GRCh38 Chromosome 3, 93995879: 93995879
10 ARL13B NM_182896.2(ARL13B): c.65T> G (p.Val22Gly) single nucleotide variant Pathogenic rs863225149 GRCh37 Chromosome 3, 93714723: 93714723
11 ARL13B NM_182896.2(ARL13B): c.461A> G (p.Asn154Ser) single nucleotide variant Pathogenic rs758972393 GRCh37 Chromosome 3, 93754255: 93754255
12 ARL13B NM_182896.2(ARL13B): c.461A> G (p.Asn154Ser) single nucleotide variant Pathogenic rs758972393 GRCh38 Chromosome 3, 94035411: 94035411
13 ARL13B NM_182896.2(ARL13B): c.257A> G (p.Tyr86Cys) single nucleotide variant Pathogenic rs863225430 GRCh37 Chromosome 3, 93722629: 93722629
14 ARL13B NM_182896.2(ARL13B): c.257A> G (p.Tyr86Cys) single nucleotide variant Pathogenic rs863225430 GRCh38 Chromosome 3, 94003785: 94003785
15 ARL13B NM_182896.2(ARL13B): c.131-1G> T single nucleotide variant Pathogenic rs373604132 GRCh37 Chromosome 3, 93722502: 93722502
16 ARL13B NM_182896.2(ARL13B): c.131-1G> T single nucleotide variant Pathogenic rs373604132 GRCh38 Chromosome 3, 94003658: 94003658
17 ARL13B NM_182896.2(ARL13B): c.1261A> G (p.Ser421Gly) single nucleotide variant Uncertain significance rs112062713 GRCh37 Chromosome 3, 93772081: 93772081
18 ARL13B NM_182896.2(ARL13B): c.1261A> G (p.Ser421Gly) single nucleotide variant Uncertain significance rs112062713 GRCh38 Chromosome 3, 94053237: 94053237
19 ARL13B NM_182896.2(ARL13B): c.720C> T (p.Leu240=) single nucleotide variant Likely benign rs752196300 GRCh37 Chromosome 3, 93758754: 93758754
20 ARL13B NM_182896.2(ARL13B): c.720C> T (p.Leu240=) single nucleotide variant Likely benign rs752196300 GRCh38 Chromosome 3, 94039910: 94039910
21 ARL13B NM_182896.2(ARL13B): c.775C> T (p.Pro259Ser) single nucleotide variant Uncertain significance rs538624288 GRCh38 Chromosome 3, 94039965: 94039965
22 ARL13B NM_182896.2(ARL13B): c.775C> T (p.Pro259Ser) single nucleotide variant Uncertain significance rs538624288 GRCh37 Chromosome 3, 93758809: 93758809
23 ARL13B NM_182896.2(ARL13B): c.715G> A (p.Glu239Lys) single nucleotide variant Uncertain significance rs778540135 GRCh38 Chromosome 3, 94039905: 94039905
24 ARL13B NM_182896.2(ARL13B): c.715G> A (p.Glu239Lys) single nucleotide variant Uncertain significance rs778540135 GRCh37 Chromosome 3, 93758749: 93758749
25 ARL13B NM_182896.2(ARL13B): c.501A> C (p.Ala167=) single nucleotide variant Likely benign rs774807971 GRCh37 Chromosome 3, 93755410: 93755410
26 ARL13B NM_182896.2(ARL13B): c.501A> C (p.Ala167=) single nucleotide variant Likely benign rs774807971 GRCh38 Chromosome 3, 94036566: 94036566

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

Sources for Joubert Syndrome 8

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