Joubert Syndrome 31 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Joubert Syndrome 31

MalaCards integrated aliases for Joubert Syndrome 31:

Name: Joubert Syndrome 31 ⁵⁷ ¹² ⁷⁵ ⁶

Jbts31 ⁵⁷ ⁷⁵

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

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 617761

Disease Ontology ¹² DOID:0080277

MedGen ⁴² C4540355 CN593637

MeSH ⁴⁴ D002526 D005124 D052177

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Summaries for Joubert Syndrome 31

UniProtKB/Swiss-Prot : ⁷⁵ Joubert syndrome 31: 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. JBTS31 inheritance is autosomal recessive.

MalaCards based summary : Joubert Syndrome 31, is also known as jbts31. An important gene associated with Joubert Syndrome 31 is CEP120 (Centrosomal Protein 120). Affiliated tissues include liver.

Description from OMIM: 617761

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Related Diseases for Joubert Syndrome 31

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 31

Symptoms via clinical synopsis from OMIM:

⁵⁷

Head And Neck Eyes:
nystagmus
strabismus
ocular motor apraxia
duane syndrome

Neurologic Central Nervous System:
hypotonia
neonatal breathing abnormalities
developmental delay
cognitive impairment
truncal ataxia
more

Clinical features from OMIM:

617761

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Drugs & Therapeutics for Joubert Syndrome 31

Search Clinical Trials , NIH Clinical Center for Joubert Syndrome 31

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Genetic Tests for Joubert Syndrome 31

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Anatomical Context for Joubert Syndrome 31

MalaCards organs/tissues related to Joubert Syndrome 31:

⁴¹

Liver

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Publications for Joubert Syndrome 31

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Genes for Joubert Syndrome 31

Genes related to Joubert Syndrome 31 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CEP120	Centrosomal Protein 120	Protein Coding	927.87	Molecular basis known ⁵⁷ Pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	27208211 20301500

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Variations for Joubert Syndrome 31

ClinVar genetic disease variations for Joubert Syndrome 31:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	CEP120	NM_153223.3(CEP120): c.581T> C (p.Val194Ala)	single nucleotide variant	Pathogenic		GRCh38	Chromosome 5, 123399167: 123399167
2	CEP120	NM_153223.3(CEP120): c.581T> C (p.Val194Ala)	single nucleotide variant	Pathogenic		GRCh37	Chromosome 5, 122734861: 122734861
3	CEP120	NM_153223.3(CEP120): c.2134C> T (p.Leu712Phe)	single nucleotide variant	Benign	rs114280473	GRCh38	Chromosome 5, 123378398: 123378398
4	CEP120	NM_153223.3(CEP120): c.2134C> T (p.Leu712Phe)	single nucleotide variant	Benign	rs114280473	GRCh37	Chromosome 5, 122714092: 122714092
5	CEP120	NM_153223.3(CEP120): c.2177T> C (p.Leu726Pro)	single nucleotide variant	Pathogenic		GRCh38	Chromosome 5, 123378355: 123378355
6	CEP120	NM_153223.3(CEP120): c.2177T> C (p.Leu726Pro)	single nucleotide variant	Pathogenic		GRCh37	Chromosome 5, 122714049: 122714049
7	CEP120	NM_153223.3(CEP120): c.1138_1139insA (p.Ser380Tyrfs)	insertion	Pathogenic		GRCh38	Chromosome 5, 123390040: 123390041
8	CEP120	NM_153223.3(CEP120): c.1138_1139insA (p.Ser380Tyrfs)	insertion	Pathogenic		GRCh37	Chromosome 5, 122725734: 122725735
9	CEP120	NM_153223.3(CEP120): c.1646C> T (p.Ala549Val)	single nucleotide variant	Pathogenic	rs775080726	GRCh38	Chromosome 5, 123385068: 123385068
10	CEP120	NM_153223.3(CEP120): c.1646C> T (p.Ala549Val)	single nucleotide variant	Pathogenic	rs775080726	GRCh37	Chromosome 5, 122720762: 122720762

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Expression for Joubert Syndrome 31

Search GEO for disease gene expression data for Joubert Syndrome 31.

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Pathways for Joubert Syndrome 31

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GO Terms for Joubert Syndrome 31

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Sources for Joubert Syndrome 31

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