JBTS18
MCID: JBR021
MIFTS: 25

Joubert Syndrome 18 (JBTS18)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Joubert Syndrome 18

MalaCards integrated aliases for Joubert Syndrome 18:

Name: Joubert Syndrome 18 57 12 72 29 13 6 70
Jbts18 57 12 72
Joubert Syndrome, Type 18 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

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


HPO:

31
joubert syndrome 18:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110987
OMIM® 57 614815
OMIM Phenotypic Series 57 PS213300
UMLS 70 C3553758

Summaries for Joubert Syndrome 18

UniProtKB/Swiss-Prot : 72 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 eye and kidney, and related phenotypes are intellectual disability 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.

More information from OMIM: 614815 PS213300

Symptoms & Phenotypes for Joubert Syndrome 18

Human phenotypes related to Joubert Syndrome 18:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 abnormality of eye movement 31 HP:0000496
3 intrauterine growth retardation 31 HP:0001511
4 horseshoe kidney 31 HP:0000085
5 joint laxity 31 HP:0001388
6 kyphoscoliosis 31 HP:0002751
7 ventricular septal defect 31 HP:0001629
8 molar tooth sign on mri 31 HP:0002419
9 camptodactyly 31 HP:0012385
10 polydactyly 31 HP:0010442

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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:

40
Eye, Kidney

Publications for Joubert Syndrome 18

Articles related to Joubert Syndrome 18:

# Title Authors PMID Year
1
TCTN3 mutations cause Mohr-Majewski syndrome. 6 57
22883145 2012
2
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 6
26092869 2015

Variations for Joubert Syndrome 18

ClinVar genetic disease variations for Joubert Syndrome 18:

6 (show all 32)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TCTN3 NM_015631.6(TCTN3):c.940G>A (p.Gly314Arg) SNV Pathogenic 37061 rs793888508 GRCh37: 10:97445342-97445342
GRCh38: 10:95685585-95685585
2 TCTN3 NM_015631.6(TCTN3):c.3G>A (p.Met1Ile) SNV Pathogenic 217703 rs745688122 GRCh37: 10:97453654-97453654
GRCh38: 10:95693897-95693897
3 TCTN3 NM_015631.6(TCTN3):c.3G>A (p.Met1Ile) SNV Pathogenic 217703 rs745688122 GRCh37: 10:97453654-97453654
GRCh38: 10:95693897-95693897
4 TCTN3 NM_015631.6(TCTN3):c.1423_1429del (p.Arg475fs) Deletion Pathogenic 649506 rs1589613893 GRCh37: 10:97442431-97442437
GRCh38: 10:95682674-95682680
5 TCTN3 NM_015631.6(TCTN3):c.818A>G (p.Asn273Ser) SNV Uncertain significance 646358 rs762720849 GRCh37: 10:97446835-97446835
GRCh38: 10:95687078-95687078
6 TCTN3 NM_015631.6(TCTN3):c.1271T>G (p.Val424Gly) SNV Uncertain significance 473271 rs200705429 GRCh37: 10:97442885-97442885
GRCh38: 10:95683128-95683128
7 TCTN3 NM_015631.6(TCTN3):c.728A>G (p.Asn243Ser) SNV Uncertain significance 540482 rs1555270274 GRCh37: 10:97447012-97447012
GRCh38: 10:95687255-95687255
8 TCTN3 NM_015631.6(TCTN3):c.606A>G (p.Gln202=) SNV Uncertain significance 941728 GRCh37: 10:97447370-97447370
GRCh38: 10:95687613-95687613
9 TCTN3 NM_015631.6(TCTN3):c.769C>T (p.Arg257Cys) SNV Uncertain significance 949481 GRCh37: 10:97446884-97446884
GRCh38: 10:95687127-95687127
10 TCTN3 NM_015631.6(TCTN3):c.499+5G>T SNV Uncertain significance 1000037 GRCh37: 10:97452672-97452672
GRCh38: 10:95692915-95692915
11 TCTN3 NM_015631.6(TCTN3):c.1177G>A (p.Ala393Thr) SNV Uncertain significance 1005652 GRCh37: 10:97443305-97443305
GRCh38: 10:95683548-95683548
12 TCTN3 NM_015631.6(TCTN3):c.1741G>C (p.Val581Leu) SNV Uncertain significance 1013694 GRCh37: 10:97423907-97423907
GRCh38: 10:95664150-95664150
13 TCTN3 NM_015631.6(TCTN3):c.730C>G (p.Pro244Ala) SNV Uncertain significance 1027990 GRCh37: 10:97447010-97447010
GRCh38: 10:95687253-95687253
14 TCTN3 NM_015631.6(TCTN3):c.283A>C (p.Thr95Pro) SNV Uncertain significance 242345 rs749447795 GRCh37: 10:97453207-97453207
GRCh38: 10:95693450-95693450
15 TCTN3 NM_015631.6(TCTN3):c.1196G>A (p.Ser399Asn) SNV Uncertain significance 641338 rs768285987 GRCh37: 10:97443286-97443286
GRCh38: 10:95683529-95683529
16 TCTN3 NM_015631.6(TCTN3):c.280T>C (p.Leu94=) SNV Likely benign 260668 rs367982164 GRCh37: 10:97453210-97453210
GRCh38: 10:95693453-95693453
17 TCTN3 NM_015631.6(TCTN3):c.9C>A (p.Thr3=) SNV Likely benign 540483 rs1471002377 GRCh37: 10:97453648-97453648
GRCh38: 10:95693891-95693891
18 TCTN3 NM_015631.6(TCTN3):c.946A>G (p.Thr316Ala) SNV Likely benign 540484 rs200042949 GRCh37: 10:97445336-97445336
GRCh38: 10:95685579-95685579
19 TCTN3 NM_015631.6(TCTN3):c.1317C>T (p.Cys439=) SNV Likely benign 712234 rs34474203 GRCh37: 10:97442543-97442543
GRCh38: 10:95682786-95682786
20 TCTN3 NM_015631.6(TCTN3):c.1425G>A (p.Arg475=) SNV Likely benign 383719 rs144543830 GRCh37: 10:97442435-97442435
GRCh38: 10:95682678-95682678
21 TCTN3 NM_015631.6(TCTN3):c.1575G>A (p.Gln525=) SNV Likely benign 391622 rs768137956 GRCh37: 10:97440244-97440244
GRCh38: 10:95680487-95680487
22 TCTN3 NM_015631.6(TCTN3):c.153A>G (p.Ser51=) SNV Likely benign 511205 rs937027387 GRCh37: 10:97453504-97453504
GRCh38: 10:95693747-95693747
23 TCTN3 NM_015631.6(TCTN3):c.1764C>T (p.Val588=) SNV Likely benign 386676 rs137856303 GRCh37: 10:97423884-97423884
GRCh38: 10:95664127-95664127
24 TCTN3 NM_015631.6(TCTN3):c.889-8G>A SNV Benign 515128 rs374331871 GRCh37: 10:97445401-97445401
GRCh38: 10:95685644-95685644
25 TCTN3 NM_015631.6(TCTN3):c.224C>T (p.Ala75Val) SNV Benign 212392 rs41291570 GRCh37: 10:97453433-97453433
GRCh38: 10:95693676-95693676
26 TCTN3 NM_015631.6(TCTN3):c.1030G>A (p.Gly344Arg) SNV Benign 212390 rs141088838 GRCh37: 10:97444321-97444321
GRCh38: 10:95684564-95684564
27 TCTN3 NM_015631.6(TCTN3):c.1591-5C>T SNV Benign 499913 rs181107730 GRCh37: 10:97424062-97424062
GRCh38: 10:95664305-95664305
28 TCTN3 NM_015631.6(TCTN3):c.500-6T>C SNV Benign 506786 rs201444392 GRCh37: 10:97447482-97447482
GRCh38: 10:95687725-95687725
29 TCTN3 NM_015631.6(TCTN3):c.211G>T (p.Val71Leu) SNV Benign 506607 rs138495428 GRCh37: 10:97453446-97453446
GRCh38: 10:95693689-95693689
30 TCTN3 NM_015631.6(TCTN3):c.630T>C (p.Ala210=) SNV Benign 130578 rs41299157 GRCh37: 10:97447110-97447110
GRCh38: 10:95687353-95687353
31 TCTN3 NM_015631.6(TCTN3):c.925G>T (p.Ala309Ser) SNV Benign 130579 rs55859130 GRCh37: 10:97445357-97445357
GRCh38: 10:95685600-95685600
32 TCTN3 NM_015631.6(TCTN3):c.21G>A (p.Ala7=) SNV Benign 260667 rs61737888 GRCh37: 10:97453636-97453636
GRCh38: 10:95693879-95693879

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

72
# Symbol AA change Variation ID SNP ID
1 TCTN3 p.Gly314Arg VAR_068823 rs793888508

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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