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 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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Nephrological diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 614815

Disease Ontology ¹² DOID:0110987

MedGen ⁴² C3553758 CN143714

MeSH ⁴⁴ D002526 D005124 D052177

SNOMED-CT via HPO ⁶⁹ 258211005 41729002 103252009 more

UMLS ⁷³ C3553758

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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

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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

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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 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

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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

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Anatomical Context for Joubert Syndrome 18

MalaCards organs/tissues related to Joubert Syndrome 18:

⁴¹

Kidney, Eye

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Publications for Joubert Syndrome 18

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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	PubmedIds
1	TCTN3	Tectonic Family Member 3	Protein Coding	1328.48	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	22883145 20301500

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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

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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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