JBTS31
MCID: JBR044
MIFTS: 26

Joubert Syndrome 31 (JBTS31)

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

Aliases & Classifications for Joubert Syndrome 31

MalaCards integrated aliases for Joubert Syndrome 31:

Name: Joubert Syndrome 31 57 12 72 29 6 15
Jbts31 57 72

Characteristics:

OMIM®:

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


HPO:

31
joubert syndrome 31:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080277
OMIM® 57 617761
OMIM Phenotypic Series 57 PS213300

Summaries for Joubert Syndrome 31

UniProtKB/Swiss-Prot : 72 Joubert syndrome 31: 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. JBTS31 inheritance is autosomal recessive.

MalaCards based summary : Joubert Syndrome 31, also known as jbts31, is related to lipoid proteinosis of urbach and wiethe and brugada syndrome 9. An important gene associated with Joubert Syndrome 31 is CEP120 (Centrosomal Protein 120). Related phenotypes are nystagmus and global developmental delay

Disease Ontology : 12 A Joubert syndrome that has material basis in homozygous or compound heterozygous mutation in the CEP120 gene on chromosome 5q23.

More information from OMIM: 617761 PS213300

Related Diseases for Joubert Syndrome 31

Symptoms & Phenotypes for Joubert Syndrome 31

Human phenotypes related to Joubert Syndrome 31:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 nystagmus 31 HP:0000639
2 global developmental delay 31 HP:0001263
3 cognitive impairment 31 HP:0100543
4 strabismus 31 HP:0000486
5 ventriculomegaly 31 HP:0002119
6 hypoplasia of the corpus callosum 31 HP:0002079
7 molar tooth sign on mri 31 HP:0002419
8 oculomotor apraxia 31 HP:0000657
9 generalized hypotonia 31 HP:0001290
10 truncal ataxia 31 HP:0002078

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
nystagmus
strabismus
ocular motor apraxia
duane syndrome

Neurologic Central Nervous System:
cognitive impairment
truncal ataxia
hypotonia
developmental delay
hypoplasia of corpus callosum
more

Clinical features from OMIM®:

617761 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Joubert Syndrome 31 according to GeneCards Suite gene sharing:

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.47 GABRB2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-163 9.47 GABRB2
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-18 9.47 KNDC1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-186 9.47 KNDC1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-207 9.47 KNDC1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-30 9.47 KNDC1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-32 9.47 MON1B
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-39 9.47 GABRB2
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-47 9.47 GABRB2
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-57 9.47 MON1B
11 Decreased Hepatitis C virus replication GR00180-A-1 8.96 DYNC1I1 KNDC1

Drugs & Therapeutics for Joubert Syndrome 31

Search Clinical Trials , NIH Clinical Center for Joubert Syndrome 31

Genetic Tests for Joubert Syndrome 31

Genetic tests related to Joubert Syndrome 31:

# Genetic test Affiliating Genes
1 Joubert Syndrome 31 29 CEP120

Anatomical Context for Joubert Syndrome 31

Publications for Joubert Syndrome 31

Articles related to Joubert Syndrome 31:

# Title Authors PMID Year
1
Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes. 57 6
27208211 2016

Variations for Joubert Syndrome 31

ClinVar genetic disease variations for Joubert Syndrome 31:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CEP120 NM_153223.3(CEP120):c.581T>C (p.Val194Ala) SNV Pathogenic 446144 rs1554104276 GRCh37: 5:122734861-122734861
GRCh38: 5:123399167-123399167
2 CEP120 NM_153223.3(CEP120):c.1138_1139insA (p.Ser380fs) Insertion Pathogenic 446147 rs1554103267 GRCh37: 5:122725734-122725735
GRCh38: 5:123390040-123390041
3 CEP120 NM_153223.3(CEP120):c.1646C>T (p.Ala549Val) SNV Pathogenic 446148 rs775080726 GRCh37: 5:122720762-122720762
GRCh38: 5:123385068-123385068
4 CEP120 NM_153223.3(CEP120):c.2134C>T (p.Leu712Phe) SNV Pathogenic 446145 rs114280473 GRCh37: 5:122714092-122714092
GRCh38: 5:123378398-123378398
5 CEP120 NM_153223.3(CEP120):c.2177T>C (p.Leu726Pro) SNV Pathogenic 446146 rs1554102026 GRCh37: 5:122714049-122714049
GRCh38: 5:123378355-123378355
6 CEP120 NM_001375405.1(CEP120):c.2001del (p.Phe668fs) Deletion Pathogenic 1027807 GRCh37: 5:122718443-122718443
GRCh38: 5:123382749-123382749
7 CEP120 NM_001375405.1(CEP120):c.2462A>G (p.Asn821Ser) SNV Uncertain significance 1027808 GRCh37: 5:122708363-122708363
GRCh38: 5:123372669-123372669
8 CEP120 NM_001375405.1(CEP120):c.612+5G>A SNV Uncertain significance 1027810 GRCh37: 5:122734825-122734825
GRCh38: 5:123399131-123399131
9 CEP120 NM_001375405.1(CEP120):c.1062G>T (p.Gln354His) SNV Uncertain significance 1031687 GRCh37: 5:122725811-122725811
GRCh38: 5:123390117-123390117

Expression for Joubert Syndrome 31

Search GEO for disease gene expression data for Joubert Syndrome 31.

Pathways for Joubert Syndrome 31

GO Terms for Joubert Syndrome 31

Sources for Joubert Syndrome 31

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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