Joubert Syndrome 18 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Nephrological diseases Eye diseases Respiratory diseases Liver diseases Mental diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0110987

OMIM® ⁵⁷ 614815

OMIM Phenotypic Series ⁵⁷ PS213300

MeSH ⁴⁴ D002526 D005124 D052177

MedGen ⁴¹ C3553758 CN143714

SNOMED-CT via HPO ⁶⁸ 103252009 199612005 22033007 more

UMLS ⁷⁰ C3553758

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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

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Related Diseases for Joubert Syndrome 18

Diseases in the Joubert Syndrome 1 family:

Joubert Syndrome 10	Joubert Syndrome 2
Joubert Syndrome 3	Joubert Syndrome 4
Joubert Syndrome 5	Joubert Syndrome 6
Joubert Syndrome 7	Joubert Syndrome 9
Joubert Syndrome 8	Joubert Syndrome 13
Joubert Syndrome 14	Joubert Syndrome 15
Joubert Syndrome 16	Joubert Syndrome 17
Joubert Syndrome 18	Joubert Syndrome 20
Joubert Syndrome 21	Joubert Syndrome 22
Joubert Syndrome 23	Joubert Syndrome 24
Joubert Syndrome 25	Joubert Syndrome 26
Joubert Syndrome 27	Joubert Syndrome 28
Joubert Syndrome 30	Joubert Syndrome 32
Joubert Syndrome 31	Joubert Syndrome 33
Joubert Syndrome 35	Joubert Syndrome 36
Joubert Syndrome 37

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Symptoms & Phenotypes for Joubert Syndrome 18

Human phenotypes related to Joubert Syndrome 18:

³¹ (show all 10)

#	Description	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)

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Drugs & Therapeutics for Joubert Syndrome 18

Search Clinical Trials , NIH Clinical Center for Joubert Syndrome 18

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Genetic Tests for Joubert Syndrome 18

Genetic tests related to Joubert Syndrome 18:

#	Genetic test	Affiliating Genes
1	Joubert Syndrome 18 ²⁹	TCTN3

Sources

Anatomical Context for Joubert Syndrome 18

MalaCards organs/tissues related to Joubert Syndrome 18:

⁴⁰

Eye, Kidney

Sources

Publications for Joubert Syndrome 18

Articles related to Joubert Syndrome 18:

#	Title	Authors	PMID	Year
1	TCTN3 mutations cause Mohr-Majewski syndrome. ⁶ ⁵⁷	Thomas S...Attie-Bitach T	22883145	2012
2	Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. ⁶	Bachmann-Gagescu R...Doherty D	26092869	2015

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Genes for Joubert Syndrome 18

Genes related to Joubert Syndrome 18 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	TCTN3	Tectonic Family Member 3	Protein Coding	1317.98	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷² Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	22883145

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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

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Expression for Joubert Syndrome 18

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

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Pathways for Joubert Syndrome 18

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GO Terms for Joubert Syndrome 18

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Sources for Joubert Syndrome 18

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Joubert Syndrome 18 (JBTS18)

Aliases & Classifications for Joubert Syndrome 18

MalaCards integrated aliases for Joubert Syndrome 18:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Joubert Syndrome 18

Related Diseases for Joubert Syndrome 18

Diseases in the Joubert Syndrome 1 family:

Symptoms & Phenotypes for Joubert Syndrome 18

Human phenotypes related to Joubert Syndrome 18:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Joubert Syndrome 18

Genetic Tests for Joubert Syndrome 18

Genetic tests related to Joubert Syndrome 18:

Anatomical Context for Joubert Syndrome 18

MalaCards organs/tissues related to Joubert Syndrome 18:

Publications for Joubert Syndrome 18

Articles related to Joubert Syndrome 18:

Genes for Joubert Syndrome 18

Genes related to Joubert Syndrome 18 (1 elite genes):

Variations for Joubert Syndrome 18

ClinVar genetic disease variations for Joubert Syndrome 18:

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

Expression for Joubert Syndrome 18

Pathways for Joubert Syndrome 18

GO Terms for Joubert Syndrome 18

Sources for Joubert Syndrome 18