Joubert Syndrome 20 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Joubert Syndrome 20

MalaCards integrated aliases for Joubert Syndrome 20:

Name: Joubert Syndrome 20 ⁵⁷ ¹² ⁷⁵ ²⁹ ¹³ ⁶ ⁷³

Jbts20 ⁵⁷ ¹² ⁷⁵

Joubert Syndrome, Type 20 ⁴⁰

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
two families of french-canadian origin have been reported (last curated december 2012)

HPO:

³²

joubert syndrome 20:
Onset and clinical course congenital 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 614970

Disease Ontology ¹² DOID:0110989

MedGen ⁴² C3554235 CN162975

MeSH ⁴⁴ D002526 D005124 D052177

SNOMED-CT via HPO ⁶⁹ 258211005 29555009 193662007 more

UMLS ⁷³ C3554235

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Summaries for Joubert Syndrome 20

UniProtKB/Swiss-Prot : ⁷⁵ Joubert syndrome 20: 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.

MalaCards based summary : Joubert Syndrome 20, is also known as jbts20. An important gene associated with Joubert Syndrome 20 is TMEM231 (Transmembrane Protein 231). Related phenotypes are renal cyst and abnormal retinal morphology

Disease Ontology : ¹² A Joubert syndrome that has material basis in compound heterozygous mutation in the TMEM231 gene on chromosome 16q23.

Description from OMIM: 614970

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Related Diseases for Joubert Syndrome 20

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 20

Symptoms via clinical synopsis from OMIM:

⁵⁷

Head And Neck Eyes:
oculomotor apraxia
retinopathy (in some patients)

Neurologic Central Nervous System:
molar tooth sign seen on mri
delayed psychomotor development, severe
lack of speech
lack of independent ambulation

Respiratory:
breathing abnormalities

Skeletal Feet:
syndactyly (in some patients)
postaxial polydactyly (in some patients)

Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior (in some patients)

Genitourinary Kidneys:
renal cysts (in some patients)

Clinical features from OMIM:

614970

Human phenotypes related to Joubert Syndrome 20:

³² (show all 12)

#	Description	HPO Frequency	HPO Source Accession
1	renal cyst ³²	frequent (33%)	HP:0000107
2	abnormal retinal morphology ³²	frequent (33%)	HP:0000479
3	retinopathy ³²	occasional (7.5%)	HP:0000488
4	oculomotor apraxia ³²	obligate (100%)	HP:0000657
5	aggressive behavior ³²	frequent (33%)	HP:0000718
6	self-mutilation ³²	frequent (33%)	HP:0000742
7	syndactyly ³²	occasional (7.5%)	HP:0001159
8	global developmental delay ³²	obligate (100%)	HP:0001263
9	absent speech ³²	obligate (100%)	HP:0001344
10	respiratory insufficiency ³²	obligate (100%)	HP:0002093
11	molar tooth sign on mri ³²	obligate (100%)	HP:0002419
12	postaxial polydactyly ³²	frequent (33%)	HP:0100259

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Drugs & Therapeutics for Joubert Syndrome 20

Search Clinical Trials , NIH Clinical Center for Joubert Syndrome 20

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Genetic Tests for Joubert Syndrome 20

Genetic tests related to Joubert Syndrome 20:

#	Genetic test	Affiliating Genes
1	Joubert Syndrome 20 ²⁹	TMEM231

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Anatomical Context for Joubert Syndrome 20

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Publications for Joubert Syndrome 20

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Genes for Joubert Syndrome 20

Genes related to Joubert Syndrome 20 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	TMEM231	Transmembrane Protein 231	Protein Coding	1327.87	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	23012439 20301500

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Variations for Joubert Syndrome 20

UniProtKB/Swiss-Prot genetic disease variations for Joubert Syndrome 20:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	TMEM231	p.Asp209Asn	VAR_069044	rs200799769

ClinVar genetic disease variations for Joubert Syndrome 20:

⁶

(show all 33)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	TMEM231	NM_001077416.2(TMEM231): c.74T> A (p.Met25Lys)	single nucleotide variant	Pathogenic	rs397514609	GRCh37	Chromosome 16, 75590096: 75590096
2	TMEM231	NM_001077416.2(TMEM231): c.74T> A (p.Met25Lys)	single nucleotide variant	Pathogenic	rs397514609	GRCh38	Chromosome 16, 75556198: 75556198
3	TMEM231	NM_001077416.2(TMEM231): c.784G> A (p.Asp262Asn)	single nucleotide variant	Pathogenic	rs200799769	GRCh37	Chromosome 16, 75576539: 75576539
4	TMEM231	NM_001077416.2(TMEM231): c.784G> A (p.Asp262Asn)	single nucleotide variant	Pathogenic	rs200799769	GRCh38	Chromosome 16, 75542641: 75542641
5	TMEM231	NM_001077418.2(TMEM231): c.891G> A (p.Val297=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs149888762	GRCh38	Chromosome 16, 75540054: 75540054
6	TMEM231	NM_001077418.2(TMEM231): c.891G> A (p.Val297=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs149888762	GRCh37	Chromosome 16, 75573952: 75573952
7	TMEM231	NM_001077416.2(TMEM231): c.741+17T> A	single nucleotide variant	Benign	rs2738801	GRCh38	Chromosome 16, 75545335: 75545335
8	TMEM231	NM_001077416.2(TMEM231): c.741+17T> A	single nucleotide variant	Benign	rs2738801	GRCh37	Chromosome 16, 75579233: 75579233
9	TMEM231	NM_001077416.2(TMEM231): c.271C> G (p.Arg91Gly)	single nucleotide variant	Benign	rs375353411	GRCh38	Chromosome 16, 75556001: 75556001
10	TMEM231	NM_001077416.2(TMEM231): c.271C> G (p.Arg91Gly)	single nucleotide variant	Benign	rs375353411	GRCh37	Chromosome 16, 75589899: 75589899
11	TMEM231	NM_001077416.2(TMEM231): c.886T> C (p.Phe296Leu)	single nucleotide variant	Uncertain significance	rs746025189	GRCh37	Chromosome 16, 75575291: 75575291
12	TMEM231	NM_001077416.2(TMEM231): c.886T> C (p.Phe296Leu)	single nucleotide variant	Uncertain significance	rs746025189	GRCh38	Chromosome 16, 75541393: 75541393
13	TMEM231	NM_001077416.2(TMEM231): c.191C> T (p.Ser64Phe)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs377440297	GRCh37	Chromosome 16, 75589979: 75589979
14	TMEM231	NM_001077416.2(TMEM231): c.191C> T (p.Ser64Phe)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs377440297	GRCh38	Chromosome 16, 75556081: 75556081
15	TMEM231	NM_001077416.2(TMEM231): c.657G> A (p.Pro219=)	single nucleotide variant	Benign/Likely benign	rs201636741	GRCh37	Chromosome 16, 75579334: 75579334
16	TMEM231	NM_001077416.2(TMEM231): c.657G> A (p.Pro219=)	single nucleotide variant	Benign/Likely benign	rs201636741	GRCh38	Chromosome 16, 75545436: 75545436
17	TMEM231	NM_001077418.2(TMEM231): c.664+4A> G	single nucleotide variant	Pathogenic	rs760426025	GRCh38	Chromosome 16, 75542598: 75542598
18	TMEM231	NM_001077418.2(TMEM231): c.664+4A> G	single nucleotide variant	Pathogenic	rs760426025	GRCh37	Chromosome 16, 75576496: 75576496
19	TMEM231	NC_000016.10: g.(?_75539974)_(75542703_?)dup	duplication	Uncertain significance		GRCh38	Chromosome 16, 75539974: 75542703
20	TMEM231	NC_000016.10: g.(?_75539974)_(75545515_?)del	deletion	Pathogenic		GRCh38	Chromosome 16, 75539974: 75545515
21	TMEM231	NC_000016.10: g.(?_75539974)_(75545515_?)del	deletion	Pathogenic		GRCh37	Chromosome 16, 75573872: 75579413
22	TMEM231	NC_000016.10: g.(?_75539974)_(75545515_?)dup	duplication	Uncertain significance		GRCh38	Chromosome 16, 75539974: 75545515
23	TMEM231	NC_000016.10: g.(?_75539974)_(75545515_?)dup	duplication	Uncertain significance		GRCh37	Chromosome 16, 75573872: 75579413
24	TMEM231	NM_001077416.2(TMEM231): c.1086_1087invCT (p.Asp362_Leu363delinsGluVal)	inversion	Likely benign		GRCh38	Chromosome 16, 75540017: 75540018
25	TMEM231	NM_001077416.2(TMEM231): c.1086_1087invCT (p.Asp362_Leu363delinsGluVal)	inversion	Likely benign		GRCh37	Chromosome 16, 75573915: 75573916
26	TMEM231	NM_001077416.2(TMEM231): c.12G> A (p.Arg4=)	single nucleotide variant	Benign/Likely benign	rs115739052	GRCh37	Chromosome 16, 75590158: 75590158
27	TMEM231	NM_001077416.2(TMEM231): c.12G> A (p.Arg4=)	single nucleotide variant	Benign/Likely benign	rs115739052	GRCh38	Chromosome 16, 75556260: 75556260
28	TMEM231	NM_001077416.2(TMEM231): c.957A> G (p.Val319=)	single nucleotide variant	Likely benign	rs772364535	GRCh38	Chromosome 16, 75540147: 75540147
29	TMEM231	NM_001077416.2(TMEM231): c.957A> G (p.Val319=)	single nucleotide variant	Likely benign	rs772364535	GRCh37	Chromosome 16, 75574045: 75574045
30	TMEM231	NM_001077416.2(TMEM231): c.629C> T (p.Ala210Val)	single nucleotide variant	Likely benign	rs201036290	GRCh37	Chromosome 16, 75579362: 75579362
31	TMEM231	NM_001077416.2(TMEM231): c.629C> T (p.Ala210Val)	single nucleotide variant	Likely benign	rs201036290	GRCh38	Chromosome 16, 75545464: 75545464
32	TMEM231	NM_001077416.2(TMEM231): c.742-10C> T	single nucleotide variant	Likely benign	rs774265542	GRCh38	Chromosome 16, 75542693: 75542693
33	TMEM231	NM_001077416.2(TMEM231): c.742-10C> T	single nucleotide variant	Likely benign	rs774265542	GRCh37	Chromosome 16, 75576591: 75576591

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Expression for Joubert Syndrome 20

Search GEO for disease gene expression data for Joubert Syndrome 20.

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Pathways for Joubert Syndrome 20

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GO Terms for Joubert Syndrome 20

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