MCID: JBR021
MIFTS: 21

Joubert Syndrome 18

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

Aliases & Classifications for Joubert Syndrome 18

MalaCards integrated aliases for Joubert Syndrome 18:

Name: Joubert Syndrome 18 57 12 75 29 13 6 73
Jbts18 57 12 75
Joubert Syndrome, Type 18 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
based on 2 siblings in 1 family (last curated september 2012)


HPO:

32
joubert syndrome 18:
Onset and clinical course phenotypic variability
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Joubert Syndrome 18

UniProtKB/Swiss-Prot : 75 Joubert syndrome 18: 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 and renal disease. JBTS18 patients have vermis agenesis and the molar tooth sign as well as severe kyphoscoliosis. Other features include intrauterine growth retardation, oral anomalies, micrognathism, polydactyly and camptodactyly, joint laxity, horseshoe kidney, and ventricular septal defect.

MalaCards based summary : Joubert Syndrome 18, is also known as jbts18. An important gene associated with Joubert Syndrome 18 is TCTN3 (Tectonic Family Member 3). Affiliated tissues include kidney and eye, and related phenotypes are horseshoe kidney and abnormality of eye movement

Disease Ontology : 12 A Joubert syndrome that has material basis in homozygous mutation in the TCTN3 gene on chromosome 10q24.

Description from OMIM: 614815

Symptoms & Phenotypes for Joubert Syndrome 18

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
intrauterine growth retardation

Skeletal:
joint laxity

Skeletal Hands:
camptodactyly
polydactyly

Head And Neck Eyes:
abnormal eye movements

Head And Neck Face:
micrognathism

Genitourinary Kidneys:
horseshoe kidney

Cardiovascular Heart:
ventricular septal defect

Neurologic Central Nervous System:
mental retardation
molar tooth sign
vermis aplasia

Respiratory:
breathing anomalies

Skeletal Spine:
kyphoscoliosis, severe


Clinical features from OMIM:

614815

Human phenotypes related to Joubert Syndrome 18:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 horseshoe kidney 32 HP:0000085
2 abnormality of eye movement 32 HP:0000496
3 intellectual disability 32 HP:0001249
4 joint laxity 32 HP:0001388
5 intrauterine growth retardation 32 HP:0001511
6 ventricular septal defect 32 HP:0001629
7 molar tooth sign on mri 32 HP:0002419
8 kyphoscoliosis 32 HP:0002751
9 polydactyly 32 HP:0010442
10 camptodactyly 32 HP:0012385

Drugs & Therapeutics for Joubert Syndrome 18

Search Clinical Trials , NIH Clinical Center for Joubert Syndrome 18

Genetic Tests for Joubert Syndrome 18

Genetic tests related to Joubert Syndrome 18:

# Genetic test Affiliating Genes
1 Joubert Syndrome 18 29 TCTN3

Anatomical Context for Joubert Syndrome 18

MalaCards organs/tissues related to Joubert Syndrome 18:

41
Kidney, Eye

Publications for Joubert Syndrome 18

Variations for Joubert Syndrome 18

UniProtKB/Swiss-Prot genetic disease variations for Joubert Syndrome 18:

75
# Symbol AA change Variation ID SNP ID
1 TCTN3 p.Gly314Arg VAR_068823 rs793888508

ClinVar genetic disease variations for Joubert Syndrome 18:

6
(show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 TCTN3 NM_015631.5(TCTN3): c.940G> A (p.Gly314Arg) single nucleotide variant Pathogenic rs793888508 GRCh37 Chromosome 10, 97445342: 97445342
2 TCTN3 NM_015631.5(TCTN3): c.940G> A (p.Gly314Arg) single nucleotide variant Pathogenic rs793888508 GRCh38 Chromosome 10, 95685585: 95685585
3 TCTN3 NM_015631.5(TCTN3): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs745688122 GRCh37 Chromosome 10, 97453654: 97453654
4 TCTN3 NM_015631.5(TCTN3): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs745688122 GRCh38 Chromosome 10, 95693897: 95693897
5 TCTN3 NM_015631.5(TCTN3): c.1425G> A (p.Arg475=) single nucleotide variant Likely benign rs144543830 GRCh37 Chromosome 10, 97442435: 97442435
6 TCTN3 NM_015631.5(TCTN3): c.1425G> A (p.Arg475=) single nucleotide variant Likely benign rs144543830 GRCh38 Chromosome 10, 95682678: 95682678
7 TCTN3 NM_015631.5(TCTN3): c.1271T> G (p.Val424Gly) single nucleotide variant Uncertain significance rs200705429 GRCh37 Chromosome 10, 97442885: 97442885
8 TCTN3 NM_015631.5(TCTN3): c.1271T> G (p.Val424Gly) single nucleotide variant Uncertain significance rs200705429 GRCh38 Chromosome 10, 95683128: 95683128
9 TCTN3 NM_015631.5(TCTN3): c.211G> T (p.Val71Leu) single nucleotide variant Benign/Likely benign rs138495428 GRCh37 Chromosome 10, 97453446: 97453446
10 TCTN3 NM_015631.5(TCTN3): c.211G> T (p.Val71Leu) single nucleotide variant Benign/Likely benign rs138495428 GRCh38 Chromosome 10, 95693689: 95693689
11 TCTN3 NM_015631.5(TCTN3): c.728A> G (p.Asn243Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 10, 95687255: 95687255
12 TCTN3 NM_015631.5(TCTN3): c.728A> G (p.Asn243Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 10, 97447012: 97447012
13 TCTN3 NM_015631.5(TCTN3): c.946A> G (p.Thr316Ala) single nucleotide variant Likely benign rs200042949 GRCh37 Chromosome 10, 97445336: 97445336
14 TCTN3 NM_015631.5(TCTN3): c.946A> G (p.Thr316Ala) single nucleotide variant Likely benign rs200042949 GRCh38 Chromosome 10, 95685579: 95685579
15 TCTN3 NM_015631.5(TCTN3): c.9C> A (p.Thr3=) single nucleotide variant Likely benign GRCh37 Chromosome 10, 97453648: 97453648
16 TCTN3 NM_015631.5(TCTN3): c.9C> A (p.Thr3=) single nucleotide variant Likely benign GRCh38 Chromosome 10, 95693891: 95693891

Expression for Joubert Syndrome 18

Search GEO for disease gene expression data for Joubert Syndrome 18.

Pathways for Joubert Syndrome 18

GO Terms for Joubert Syndrome 18

Sources for Joubert Syndrome 18

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