Joubert Syndrome 24 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 616654

Disease Ontology ¹² DOID:0110993

MedGen ⁴² C4084841 CN233319

MeSH ⁴⁴ D002526 D005124 D052177

SNOMED-CT via HPO ⁶⁹ 258211005 38101003 563001 more

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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)

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Related Diseases for Joubert Syndrome 24

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 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

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Drugs & Therapeutics for Joubert Syndrome 24

Search Clinical Trials , NIH Clinical Center for Joubert Syndrome 24

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Genetic Tests for Joubert Syndrome 24

Genetic tests related to Joubert Syndrome 24:

#	Genetic test	Affiliating Genes
1	Joubert Syndrome 24 ²⁹	TCTN2

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Anatomical Context for Joubert Syndrome 24

MalaCards organs/tissues related to Joubert Syndrome 24:

⁴¹

Brain, Liver, Eye

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Publications for Joubert Syndrome 24

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Genes for Joubert Syndrome 24

Genes related to Joubert Syndrome 24 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	TCTN2	Tectonic Family Member 2	Protein Coding	1027.45	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	21565611 20301500 25118024

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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

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Expression for Joubert Syndrome 24

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

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Pathways for Joubert Syndrome 24

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GO Terms for Joubert Syndrome 24

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