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 ⁷² ²⁹ ⁶ ¹⁵

Jbts31 ⁵⁷ ⁷²

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Inheritance:
autosomal recessive

HPO:

³¹

joubert syndrome 31:
Inheritance autosomal recessive inheritance

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0080277

OMIM® ⁵⁷ 617761

OMIM Phenotypic Series ⁵⁷ PS213300

MeSH ⁴⁴ D002526 D005124 D052177

MedGen ⁴¹ C4540355 CN593637

SNOMED-CT via HPO ⁶⁸ 128602000 193662007 204043002 more

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Summaries for Joubert Syndrome 31

UniProtKB/Swiss-Prot : ⁷² 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, also known as jbts31, is related to lipoid proteinosis of urbach and wiethe and brugada syndrome 9. An important gene associated with Joubert Syndrome 31 is CEP120 (Centrosomal Protein 120). Related phenotypes are nystagmus and global developmental delay

Disease Ontology : ¹² A Joubert syndrome that has material basis in homozygous or compound heterozygous mutation in the CEP120 gene on chromosome 5q23.

More information from OMIM: 617761 PS213300

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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
Joubert Syndrome 35	Joubert Syndrome 36
Joubert Syndrome 37

Diseases related to Joubert Syndrome 31 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	lipoid proteinosis of urbach and wiethe	9.7	DYNC1I1 CEP120
2	brugada syndrome 9	8.5	MON1B KNDC1 GABRB2 FAF1 DYNC1I1 CEP120

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Symptoms & Phenotypes for Joubert Syndrome 31

Human phenotypes related to Joubert Syndrome 31:

³¹ (show all 10)

#	Description	HPO Source Accession
1	nystagmus ³¹	HP:0000639
2	global developmental delay ³¹	HP:0001263
3	cognitive impairment ³¹	HP:0100543
4	strabismus ³¹	HP:0000486
5	ventriculomegaly ³¹	HP:0002119
6	hypoplasia of the corpus callosum ³¹	HP:0002079
7	molar tooth sign on mri ³¹	HP:0002419
8	oculomotor apraxia ³¹	HP:0000657
9	generalized hypotonia ³¹	HP:0001290
10	truncal ataxia ³¹	HP:0002078

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Apr-2021)

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

Neurologic Central Nervous System:
cognitive impairment
truncal ataxia
hypotonia
developmental delay
hypoplasia of corpus callosum
more

Clinical features from OMIM®:

617761 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Joubert Syndrome 31 according to GeneCards Suite gene sharing:

²⁶ (show all 11)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased shRNA abundance (Z-score < -2)	GR00366-A-153	9.47	GABRB2
2	Decreased shRNA abundance (Z-score < -2)	GR00366-A-163	9.47	GABRB2
3	Decreased shRNA abundance (Z-score < -2)	GR00366-A-18	9.47	KNDC1
4	Decreased shRNA abundance (Z-score < -2)	GR00366-A-186	9.47	KNDC1
5	Decreased shRNA abundance (Z-score < -2)	GR00366-A-207	9.47	KNDC1
6	Decreased shRNA abundance (Z-score < -2)	GR00366-A-30	9.47	KNDC1
7	Decreased shRNA abundance (Z-score < -2)	GR00366-A-32	9.47	MON1B
8	Decreased shRNA abundance (Z-score < -2)	GR00366-A-39	9.47	GABRB2
9	Decreased shRNA abundance (Z-score < -2)	GR00366-A-47	9.47	GABRB2
10	Decreased shRNA abundance (Z-score < -2)	GR00366-A-57	9.47	MON1B
11	Decreased Hepatitis C virus replication	GR00180-A-1	8.96	DYNC1I1 KNDC1

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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

Genetic tests related to Joubert Syndrome 31:

#	Genetic test	Affiliating Genes
1	Joubert Syndrome 31 ²⁹	CEP120

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Anatomical Context for Joubert Syndrome 31

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Publications for Joubert Syndrome 31

Articles related to Joubert Syndrome 31:

#	Title	Authors	PMID	Year
1	Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes. ⁵⁷ ⁶	Roosing S...Valente EM	27208211	2016

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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	PubMed IDs
1	CEP120	Centrosomal Protein 120	Protein Coding	1024.31	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	27208211
2	DYNC1I1	Dynein Cytoplasmic 1 Intermediate Chain 1	Protein Coding	6.96	DISEASES inferred ¹⁵
3	GABRB2	Gamma-Aminobutyric Acid Type A Receptor Subunit Beta2	Protein Coding	6.42	DISEASES inferred ¹⁵
4	FAF1	Fas Associated Factor 1	Protein Coding	6.31	DISEASES inferred ¹⁵
5	MON1B	MON1 Homolog B, Secretory Trafficking Associated	Protein Coding	6.3	DISEASES inferred ¹⁵
6	KNDC1	Kinase Non-Catalytic C-Lobe Domain Containing 1	Protein Coding	6.06	DISEASES inferred ¹⁵

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Variations for Joubert Syndrome 31

ClinVar genetic disease variations for Joubert Syndrome 31:

⁶

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	CEP120	NM_153223.3(CEP120):c.581T>C (p.Val194Ala)	SNV	Pathogenic	446144	rs1554104276	GRCh37: 5:122734861-122734861 GRCh38: 5:123399167-123399167
2	CEP120	NM_153223.3(CEP120):c.1138_1139insA (p.Ser380fs)	Insertion	Pathogenic	446147	rs1554103267	GRCh37: 5:122725734-122725735 GRCh38: 5:123390040-123390041
3	CEP120	NM_153223.3(CEP120):c.1646C>T (p.Ala549Val)	SNV	Pathogenic	446148	rs775080726	GRCh37: 5:122720762-122720762 GRCh38: 5:123385068-123385068
4	CEP120	NM_153223.3(CEP120):c.2134C>T (p.Leu712Phe)	SNV	Pathogenic	446145	rs114280473	GRCh37: 5:122714092-122714092 GRCh38: 5:123378398-123378398
5	CEP120	NM_153223.3(CEP120):c.2177T>C (p.Leu726Pro)	SNV	Pathogenic	446146	rs1554102026	GRCh37: 5:122714049-122714049 GRCh38: 5:123378355-123378355
6	CEP120	NM_001375405.1(CEP120):c.2001del (p.Phe668fs)	Deletion	Pathogenic	1027807		GRCh37: 5:122718443-122718443 GRCh38: 5:123382749-123382749
7	CEP120	NM_001375405.1(CEP120):c.2462A>G (p.Asn821Ser)	SNV	Uncertain significance	1027808		GRCh37: 5:122708363-122708363 GRCh38: 5:123372669-123372669
8	CEP120	NM_001375405.1(CEP120):c.612+5G>A	SNV	Uncertain significance	1027810		GRCh37: 5:122734825-122734825 GRCh38: 5:123399131-123399131
9	CEP120	NM_001375405.1(CEP120):c.1062G>T (p.Gln354His)	SNV	Uncertain significance	1031687		GRCh37: 5:122725811-122725811 GRCh38: 5:123390117-123390117

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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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Joubert Syndrome 31 (JBTS31)

Aliases & Classifications for Joubert Syndrome 31

MalaCards integrated aliases for Joubert Syndrome 31:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Joubert Syndrome 31

Related Diseases for Joubert Syndrome 31

Diseases in the Joubert Syndrome 1 family:

Diseases related to Joubert Syndrome 31 via text searches within MalaCards or GeneCards Suite gene sharing:

Symptoms & Phenotypes for Joubert Syndrome 31

Human phenotypes related to Joubert Syndrome 31:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

GenomeRNAi Phenotypes related to Joubert Syndrome 31 according to GeneCards Suite gene sharing:

Drugs & Therapeutics for Joubert Syndrome 31

Genetic Tests for Joubert Syndrome 31

Genetic tests related to Joubert Syndrome 31:

Anatomical Context for Joubert Syndrome 31

Publications for Joubert Syndrome 31

Articles related to Joubert Syndrome 31:

Genes for Joubert Syndrome 31

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

Variations for Joubert Syndrome 31

ClinVar genetic disease variations for Joubert Syndrome 31:

Expression for Joubert Syndrome 31

Pathways for Joubert Syndrome 31

GO Terms for Joubert Syndrome 31

Sources for Joubert Syndrome 31