JBTS31
MCID: JBR044
MIFTS: 19

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 58 12 76 30 6
Jbts31 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


Classifications:



Summaries for Joubert Syndrome 31

UniProtKB/Swiss-Prot : 76 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, is also known as jbts31. An important gene associated with Joubert Syndrome 31 is CEP120 (Centrosomal Protein 120). Related phenotypes are nystagmus and global developmental delay

Description from OMIM: 617761

Symptoms & Phenotypes for Joubert Syndrome 31

Human phenotypes related to Joubert Syndrome 31:

33 (show all 10)
# Description HPO Frequency HPO Source Accession
1 nystagmus 33 HP:0000639
2 global developmental delay 33 HP:0001263
3 cognitive impairment 33 HP:0100543
4 strabismus 33 HP:0000486
5 ventriculomegaly 33 HP:0002119
6 truncal ataxia 33 HP:0002078
7 generalized hypotonia 33 HP:0001290
8 oculomotor apraxia 33 HP:0000657
9 hypoplasia of the corpus callosum 33 HP:0002079
10 molar tooth sign on mri 33 HP:0002419

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus
strabismus
ocular motor apraxia
duane syndrome

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

Clinical features from OMIM:

617761

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 30 CEP120

Anatomical Context for Joubert Syndrome 31

Publications for Joubert Syndrome 31

Variations for Joubert Syndrome 31

ClinVar genetic disease variations for Joubert Syndrome 31:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CEP120 NM_153223.3(CEP120): c.581T> C (p.Val194Ala) single nucleotide variant Pathogenic rs1554104276 GRCh38 Chromosome 5, 123399167: 123399167
2 CEP120 NM_153223.3(CEP120): c.581T> C (p.Val194Ala) single nucleotide variant Pathogenic rs1554104276 GRCh37 Chromosome 5, 122734861: 122734861
3 CEP120 NM_153223.3(CEP120): c.2134C> T (p.Leu712Phe) single nucleotide variant Benign rs114280473 GRCh38 Chromosome 5, 123378398: 123378398
4 CEP120 NM_153223.3(CEP120): c.2134C> T (p.Leu712Phe) single nucleotide variant Benign rs114280473 GRCh37 Chromosome 5, 122714092: 122714092
5 CEP120 NM_153223.3(CEP120): c.2177T> C (p.Leu726Pro) single nucleotide variant Pathogenic rs1554102026 GRCh38 Chromosome 5, 123378355: 123378355
6 CEP120 NM_153223.3(CEP120): c.2177T> C (p.Leu726Pro) single nucleotide variant Pathogenic rs1554102026 GRCh37 Chromosome 5, 122714049: 122714049
7 CEP120 NM_153223.3(CEP120): c.1138_1139insA (p.Ser380Tyrfs) insertion Pathogenic rs1554103267 GRCh38 Chromosome 5, 123390040: 123390041
8 CEP120 NM_153223.3(CEP120): c.1138_1139insA (p.Ser380Tyrfs) insertion Pathogenic rs1554103267 GRCh37 Chromosome 5, 122725734: 122725735
9 CEP120 NM_153223.3(CEP120): c.1646C> T (p.Ala549Val) single nucleotide variant Pathogenic rs775080726 GRCh38 Chromosome 5, 123385068: 123385068
10 CEP120 NM_153223.3(CEP120): c.1646C> T (p.Ala549Val) single nucleotide variant Pathogenic rs775080726 GRCh37 Chromosome 5, 122720762: 122720762

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
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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