MCID: JBR044
MIFTS: 16

Joubert Syndrome 31

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

Aliases & Classifications for Joubert Syndrome 31

MalaCards integrated aliases for Joubert Syndrome 31:

Name: Joubert Syndrome 31 57 12 75 6
Jbts31 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


Classifications:



External Ids:

OMIM 57 617761
Disease Ontology 12 DOID:0080277

Summaries for Joubert Syndrome 31

UniProtKB/Swiss-Prot : 75 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). Affiliated tissues include liver.

Description from OMIM: 617761

Symptoms & Phenotypes for Joubert Syndrome 31

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
strabismus
ocular motor apraxia
duane syndrome

Neurologic Central Nervous System:
hypotonia
neonatal breathing abnormalities
developmental delay
cognitive impairment
truncal ataxia
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

Anatomical Context for Joubert Syndrome 31

MalaCards organs/tissues related to Joubert Syndrome 31:

41
Liver

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 GRCh38 Chromosome 5, 123399167: 123399167
2 CEP120 NM_153223.3(CEP120): c.581T> C (p.Val194Ala) single nucleotide variant Pathogenic 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 GRCh38 Chromosome 5, 123378355: 123378355
6 CEP120 NM_153223.3(CEP120): c.2177T> C (p.Leu726Pro) single nucleotide variant Pathogenic GRCh37 Chromosome 5, 122714049: 122714049
7 CEP120 NM_153223.3(CEP120): c.1138_1139insA (p.Ser380Tyrfs) insertion Pathogenic GRCh38 Chromosome 5, 123390040: 123390041
8 CEP120 NM_153223.3(CEP120): c.1138_1139insA (p.Ser380Tyrfs) insertion Pathogenic 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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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