JBTS27
MCID: JBR038
MIFTS: 21

Joubert Syndrome 27 (JBTS27)

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

Aliases & Classifications for Joubert Syndrome 27

MalaCards integrated aliases for Joubert Syndrome 27:

Name: Joubert Syndrome 27 57 12 72 29 6
Jbts27 57 12 72

Characteristics:

OMIM®:

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

Miscellaneous:
two unrelated children have been reported (last curated september 2016)


HPO:

31
joubert syndrome 27:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110996
OMIM® 57 617120
OMIM Phenotypic Series 57 PS213300

Summaries for Joubert Syndrome 27

UniProtKB/Swiss-Prot : 72 Joubert syndrome 27: 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. JBTS27 inheritance is autosomal recessive.

MalaCards based summary : Joubert Syndrome 27, is also known as jbts27. An important gene associated with Joubert Syndrome 27 is B9D1 (B9 Domain Containing 1). Related phenotypes are intellectual disability and nystagmus

Disease Ontology : 12 A Joubert syndrome that has material basis in homozygous or compound heterozygous mutation in the B9D1 gene on chromosome 17p11.

More information from OMIM: 617120 PS213300

Symptoms & Phenotypes for Joubert Syndrome 27

Human phenotypes related to Joubert Syndrome 27:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 nystagmus 31 HP:0000639
3 ataxia 31 HP:0001251
4 global developmental delay 31 HP:0001263
5 molar tooth sign on mri 31 HP:0002419
6 oculomotor apraxia 31 HP:0000657
7 generalized hypotonia 31 HP:0001290

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
nystagmus
oculomotor apraxia

Muscle Soft Tissue:
hypotonia

Neurologic Central Nervous System:
ataxia
molar tooth sign on mri
delayed development
intellectual disability (in 1 patient)

Head And Neck Face:
dysmorphic features (unspecified)

Clinical features from OMIM®:

617120 (Updated 05-Apr-2021)

Drugs & Therapeutics for Joubert Syndrome 27

Search Clinical Trials , NIH Clinical Center for Joubert Syndrome 27

Genetic Tests for Joubert Syndrome 27

Genetic tests related to Joubert Syndrome 27:

# Genetic test Affiliating Genes
1 Joubert Syndrome 27 29 B9D1

Anatomical Context for Joubert Syndrome 27

Publications for Joubert Syndrome 27

Articles related to Joubert Syndrome 27:

# Title Authors PMID Year
1
Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome. 57 6
24886560 2014

Variations for Joubert Syndrome 27

ClinVar genetic disease variations for Joubert Syndrome 27:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 B9D1 NM_015681.5(B9D1):c.517_519GTG[1] (p.Val174del) Microsatellite Pathogenic 254680 rs886038206 GRCh37: 17:19246725-19246727
GRCh38: 17:19343412-19343414
2 B9D1 NM_015681.5(B9D1):c.467G>A (p.Arg156Gln) SNV Pathogenic 254678 rs886038205 GRCh37: 17:19247108-19247108
GRCh38: 17:19343795-19343795
3 B9D1 NM_015681.5(B9D1):c.95A>G (p.Tyr32Cys) SNV Pathogenic 217555 rs771170000 GRCh37: 17:19263670-19263670
GRCh38: 17:19360357-19360357
4 B9D1 NM_015681.5(B9D1):c.341+2T>C SNV Pathogenic 31102 rs143149764 GRCh37: 17:19251095-19251095
GRCh38: 17:19347782-19347782
5 B9D1 NM_015681.3:c.613T>C SNV Pathogenic 1027995 GRCh37: 17:19246634-19246634
GRCh38: 17:19343321-19343321
6 B9D1 NM_001321218.2(B9D1):c.473-1G>C SNV Likely pathogenic 376895 rs73980009 GRCh37: 17:19241062-19241062
GRCh38: 17:19337749-19337749
7 B9D1 NM_015681.5(B9D1):c.151T>C (p.Ser51Pro) SNV Likely pathogenic 663790 rs546359789 GRCh37: 17:19261246-19261246
GRCh38: 17:19357933-19357933
8 B9D1 NM_015681.3:c.472+107G>A SNV Uncertain significance 1033788 GRCh37: 17:19246996-19246996
GRCh38: 17:19343683-19343683

UniProtKB/Swiss-Prot genetic disease variations for Joubert Syndrome 27:

72
# Symbol AA change Variation ID SNP ID
1 B9D1 p.Tyr32Cys VAR_076974 rs771170000
2 B9D1 p.Arg156Gln VAR_076975 rs886038205

Expression for Joubert Syndrome 27

Search GEO for disease gene expression data for Joubert Syndrome 27.

Pathways for Joubert Syndrome 27

GO Terms for Joubert Syndrome 27

Sources for Joubert Syndrome 27

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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