MCID: JBR035
MIFTS: 22

Joubert Syndrome 24

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

Aliases & Classifications for Joubert Syndrome 24

MalaCards integrated aliases for Joubert Syndrome 24:

Name: Joubert Syndrome 24 57 12 75 29 6
Jbts24 57 12 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy


HPO:

32
joubert syndrome 24:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Joubert Syndrome 24

UniProtKB/Swiss-Prot : 75 Joubert syndrome 24: 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.

MalaCards based summary : Joubert Syndrome 24, is also known as jbts24. An important gene associated with Joubert Syndrome 24 is TCTN2 (Tectonic Family Member 2). Affiliated tissues include brain, liver and eye, and related phenotypes are nystagmus and spasticity

Disease Ontology : 12 A Joubert syndrome characterized by delayed psychomotor development and molar tooth sign on brain MRI that has material basis in homozygous mutation in the TCTN2 gene on chromosome 12q24.

OMIM : 57 Joubert syndrome-24 is an autosomal recessive ciliopathy characterized by delayed psychomotor development associated with cerebellar hypoplasia manifest as the molar tooth sign on brain imaging. Additional variable features include hypotonia, abnormal eye movements, and postaxial polydactyly (summary by Huppke et al., 2015). For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see 213300. (616654)

Symptoms & Phenotypes for Joubert Syndrome 24

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
hyperopia

Muscle Soft Tissue:
hypotonia

Skeletal Hands:
polydactyly, postaxial

Neurologic Central Nervous System:
ataxia
spasticity
hyperreflexia
absent speech
dysmetria
more
Skeletal Feet:
talipes equinovarus (in some patients)
polydactyly, postaxial


Clinical features from OMIM:

616654

Human phenotypes related to Joubert Syndrome 24:

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 spasticity 32 HP:0001257
3 gait disturbance 32 HP:0001288
4 hyperreflexia 32 HP:0001347
5 global developmental delay 32 HP:0001263
6 absent speech 32 HP:0001344
7 dysmetria 32 HP:0001310
8 cerebellar hypoplasia 32 HP:0001321
9 talipes equinovarus 32 occasional (7.5%) HP:0001762
10 pachygyria 32 HP:0001302
11 polymicrogyria 32 HP:0002126
12 postaxial hand polydactyly 32 HP:0001162
13 generalized hypotonia 32 HP:0001290
14 hypermetropia 32 HP:0000540

Drugs & Therapeutics for Joubert Syndrome 24

Search Clinical Trials , NIH Clinical Center for Joubert Syndrome 24

Genetic Tests for Joubert Syndrome 24

Genetic tests related to Joubert Syndrome 24:

# Genetic test Affiliating Genes
1 Joubert Syndrome 24 29 TCTN2

Anatomical Context for Joubert Syndrome 24

MalaCards organs/tissues related to Joubert Syndrome 24:

41
Brain, Liver, Eye

Publications for Joubert Syndrome 24

Variations for Joubert Syndrome 24

ClinVar genetic disease variations for Joubert Syndrome 24:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TCTN2 NM_024809.4(TCTN2): c.76dupG (p.Asp26Glyfs) duplication Pathogenic rs863225222 GRCh37 Chromosome 12, 124155863: 124155863
2 TCTN2 NM_024809.4(TCTN2): c.76dupG (p.Asp26Glyfs) duplication Pathogenic rs863225222 GRCh38 Chromosome 12, 123671316: 123671316
3 TCTN2 NM_024809.4(TCTN2): c.1235_1312del (p.Ile413_Gly438del) single nucleotide variant Pathogenic rs863225425 GRCh37 Chromosome 12, 124179766: 124179766
4 TCTN2 NM_024809.4(TCTN2): c.1235_1312del (p.Ile413_Gly438del) single nucleotide variant Pathogenic rs863225425 GRCh38 Chromosome 12, 123695219: 123695219
5 TCTN2 NM_024809.4(TCTN2): c.1873C> T (p.Gln625Ter) single nucleotide variant Pathogenic rs863225426 GRCh37 Chromosome 12, 124191376: 124191376
6 TCTN2 NM_024809.4(TCTN2): c.1873C> T (p.Gln625Ter) single nucleotide variant Pathogenic rs863225426 GRCh38 Chromosome 12, 123706829: 123706829

Expression for Joubert Syndrome 24

Search GEO for disease gene expression data for Joubert Syndrome 24.

Pathways for Joubert Syndrome 24

GO Terms for Joubert Syndrome 24

Sources for Joubert Syndrome 24

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
Content
Loading form....