MCID: JBR028
MIFTS: 18

Joubert Syndrome 13

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

Aliases & Classifications for Joubert Syndrome 13

MalaCards integrated aliases for Joubert Syndrome 13:

Name: Joubert Syndrome 13 57 12 75 29 13 6 73
Jbts13 57 12 75
Joubert Syndrome, Type 13 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
two sibs and an unrelated fetus have been reported (last curated february 2016)


HPO:

32
joubert syndrome 13:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 614173
Disease Ontology 12 DOID:0110982
MedGen 42 C3280031
SNOMED-CT via HPO 69 258211005
UMLS 73 C3280031

Summaries for Joubert Syndrome 13

UniProtKB/Swiss-Prot : 75 Joubert syndrome 13: 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 13, is also known as jbts13. An important gene associated with Joubert Syndrome 13 is TCTN1 (Tectonic Family Member 1). Affiliated tissues include brain, and related phenotypes are cerebellar vermis hypoplasia and molar tooth sign on mri

Disease Ontology : 12 A Joubert syndrome that has material basis in homozygous or compound heterozygous mutation in the TCTN1 gene on chromosome 12q24.

Description from OMIM: 614173

Symptoms & Phenotypes for Joubert Syndrome 13

Symptoms via clinical synopsis from OMIM:

57
Genitourinary Kidneys:
normal renal ultrasound at ages 4 and 7 (in 2 family)

Neurologic Central Nervous System:
cerebellar vermis hypoplasia
molar tooth sign seen on brain mri
frontotemporal pachygyria

Skeletal Limbs:
limb anomalies (in some patients)


Clinical features from OMIM:

614173

Human phenotypes related to Joubert Syndrome 13:

32
# Description HPO Frequency HPO Source Accession
1 cerebellar vermis hypoplasia 32 very rare (1%) HP:0001320
2 molar tooth sign on mri 32 very rare (1%) HP:0002419

Drugs & Therapeutics for Joubert Syndrome 13

Search Clinical Trials , NIH Clinical Center for Joubert Syndrome 13

Genetic Tests for Joubert Syndrome 13

Genetic tests related to Joubert Syndrome 13:

# Genetic test Affiliating Genes
1 Joubert Syndrome 13 29 TCTN1

Anatomical Context for Joubert Syndrome 13

MalaCards organs/tissues related to Joubert Syndrome 13:

41
Brain

Publications for Joubert Syndrome 13

Variations for Joubert Syndrome 13

ClinVar genetic disease variations for Joubert Syndrome 13:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TCTN1 NM_024549.5(TCTN1): c.221-2A> G single nucleotide variant Pathogenic rs367543065 GRCh37 Chromosome 12, 111057639: 111057639
2 TCTN1 NM_024549.5(TCTN1): c.221-2A> G single nucleotide variant Pathogenic rs367543065 GRCh38 Chromosome 12, 110619834: 110619834
3 TCTN1 NM_001082538.2(TCTN1): c.940G> A (p.Ala314Thr) single nucleotide variant Uncertain significance rs199529768 GRCh37 Chromosome 12, 111078284: 111078284
4 TCTN1 NM_001082538.2(TCTN1): c.940G> A (p.Ala314Thr) single nucleotide variant Uncertain significance rs199529768 GRCh38 Chromosome 12, 110640479: 110640479
5 TCTN1 NM_001082538.2(TCTN1): c.342-2A> G single nucleotide variant Pathogenic rs730882221 GRCh38 Chromosome 12, 110626360: 110626360
6 TCTN1 NM_001082538.2(TCTN1): c.342-2A> G single nucleotide variant Pathogenic rs730882221 GRCh37 Chromosome 12, 111064165: 111064165
7 TCTN1 NM_001082538.2(TCTN1): c.843+1del deletion Pathogenic rs797046039 GRCh37 Chromosome 12, 111074307: 111074307
8 TCTN1 NM_001082538.2(TCTN1): c.843+1del deletion Pathogenic rs797046039 GRCh38 Chromosome 12, 110636502: 110636502
9 TCTN1 NM_024549.5(TCTN1): c.856C> T (p.Arg286Ter) single nucleotide variant Pathogenic rs751962801 GRCh37 Chromosome 12, 111078242: 111078242
10 TCTN1 NM_024549.5(TCTN1): c.856C> T (p.Arg286Ter) single nucleotide variant Pathogenic rs751962801 GRCh38 Chromosome 12, 110640437: 110640437

Expression for Joubert Syndrome 13

Search GEO for disease gene expression data for Joubert Syndrome 13.

Pathways for Joubert Syndrome 13

GO Terms for Joubert Syndrome 13

Sources for Joubert Syndrome 13

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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