JBTS8
MCID: JBR013
MIFTS: 28

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 57 12 74 29 13 6 44 15 72
Jbts8 57 12 74
Joubert Syndrome, Type 8 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
joubert syndrome 8:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111003
MedGen 42 C2676771
UMLS 72 C2676771

Summaries for Joubert Syndrome 8

UniProtKB/Swiss-Prot : 74 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 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.

More information from OMIM: 612291 PS213300

Related Diseases for Joubert Syndrome 8

Symptoms & Phenotypes for Joubert Syndrome 8

Human phenotypes related to Joubert Syndrome 8:

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

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

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 29 ARL13B

Anatomical Context for Joubert Syndrome 8

MalaCards organs/tissues related to Joubert Syndrome 8:

41
Eye

Publications for Joubert Syndrome 8

Articles related to Joubert Syndrome 8:

# Title Authors PMID Year
1
Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity. 38 8 71
25138100 2015
2
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome. 8 71
18674751 2008
3
Exome sequencing can improve diagnosis and alter patient management. 71
22700954 2012
4
Clinical utility gene card for: Joubert syndrome. 71
21448235 2011
5
Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. 71
21633164 2011
6
Molar tooth sign and superior vermian dysplasia: a radiological, clinical, and genetic study. 8
16541367 2006
7
Joubert Syndrome 71
20301500 2003
8
KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome. 38
26714646 2015
9
Clinical nosologic and genetic aspects of Joubert and related syndromes. 38
10511339 1999

Variations for Joubert Syndrome 8

ClinVar genetic disease variations for Joubert Syndrome 8:

6 (show all 23)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ARL13B NM_182896.3(ARL13B): c.236G> A (p.Arg79Gln) single nucleotide variant Pathogenic rs121912606 3:93722608-93722608 3:94003764-94003764
2 ARL13B NM_182896.3(ARL13B): c.246G> A (p.Trp82Ter) single nucleotide variant Pathogenic rs121912607 3:93722618-93722618 3:94003774-94003774
3 ARL13B NM_182896.3(ARL13B): c.598C> T (p.Arg200Cys) single nucleotide variant Pathogenic rs121912608 3:93755507-93755507 3:94036663-94036663
4 ARL13B NM_182896.3(ARL13B): c.65T> G (p.Val22Gly) single nucleotide variant Pathogenic rs863225149 3:93714723-93714723 3:93995879-93995879
5 ARL13B NM_182896.3(ARL13B): c.461A> G (p.Asn154Ser) single nucleotide variant Pathogenic rs758972393 3:93754255-93754255 3:94035411-94035411
6 ARL13B NM_182896.3(ARL13B): c.257A> G (p.Tyr86Cys) single nucleotide variant Pathogenic rs863225430 3:93722629-93722629 3:94003785-94003785
7 ARL13B NM_182896.3(ARL13B): c.393_396del (p.Gln132fs) deletion Pathogenic 3:93754187-93754190 3:94035343-94035346
8 ARL13B NM_182896.3(ARL13B): c.682G> A (p.Glu228Lys) single nucleotide variant Uncertain significance 3:93755591-93755591 3:94036747-94036747
9 ARL13B NM_182896.3(ARL13B): c.830dup (p.Asn277fs) duplication Uncertain significance 3:93761882-93761882 3:94043046-94043046
10 ARL13B NM_182896.3(ARL13B): c.422C> G (p.Ala141Gly) single nucleotide variant Uncertain significance 3:93754216-93754216 3:94035372-94035372
11 ARL13B NM_182896.3(ARL13B): c.1073G> A (p.Arg358Gln) single nucleotide variant Uncertain significance 3:93768298-93768298 3:94049454-94049454
12 ARL13B NM_182896.3(ARL13B): c.1133C> T (p.Pro378Leu) single nucleotide variant Uncertain significance 3:93768358-93768358 3:94049514-94049514
13 ARL13B NM_182896.3(ARL13B): c.1151G> A (p.Gly384Glu) single nucleotide variant Uncertain significance rs146264035 3:93769677-93769677 3:94050833-94050833
14 ARL13B NM_182896.3(ARL13B): c.1045A> G (p.Lys349Glu) single nucleotide variant Uncertain significance rs139063474 3:93768270-93768270 3:94049426-94049426
15 ARL13B NM_182896.3(ARL13B): c.1261A> G (p.Ser421Gly) single nucleotide variant Uncertain significance rs112062713 3:93772081-93772081 3:94053237-94053237
16 ARL13B NM_182896.3(ARL13B): c.775C> T (p.Pro259Ser) single nucleotide variant Uncertain significance rs538624288 3:93758809-93758809 3:94039965-94039965
17 ARL13B NM_182896.3(ARL13B): c.715G> A (p.Glu239Lys) single nucleotide variant Uncertain significance rs778540135 3:93758749-93758749 3:94039905-94039905
18 ARL13B NM_182896.3(ARL13B): c.1253G> A (p.Arg418Gln) single nucleotide variant Uncertain significance rs142510905 3:93772073-93772073 3:94053229-94053229
19 ARL13B NM_182896.3(ARL13B): c.501A> C (p.Ala167=) single nucleotide variant Likely benign rs774807971 3:93755410-93755410 3:94036566-94036566
20 ARL13B NM_182896.3(ARL13B): c.720C> T (p.Leu240=) single nucleotide variant Likely benign rs752196300 3:93758754-93758754 3:94039910-94039910
21 ARL13B NM_182896.3(ARL13B): c.1043C> G (p.Thr348Ser) single nucleotide variant Benign/Likely benign rs33944211 3:93768268-93768268 3:94049424-94049424
22 ARL13B NM_182896.3(ARL13B): c.105C> T (p.Thr35=) single nucleotide variant Benign/Likely benign rs146396078 3:93714763-93714763 3:93995919-93995919
23 ARL13B NM_182896.3(ARL13B): c.1186C> G (p.Pro396Ala) single nucleotide variant Benign/Likely benign rs11554412 3:93769712-93769712 3:94050868-94050868

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

74
# 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

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 KIAA0556 ARL13B

Sources for Joubert Syndrome 8

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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