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

JBTS20 MCID: JBR022 MIFTS: 30	Joubert Syndrome 20 (JBTS20) Categories: Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases
Genes Variations Related diseases Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Joubert Syndrome 20

MalaCards integrated aliases for Joubert Syndrome 20:

Name: Joubert Syndrome 20 ⁵⁸ ¹² ⁷⁶ ³⁰ ¹³ ⁶ ¹⁵ ⁷⁴

Jbts20 ⁵⁸ ¹² ⁷⁶

Joubert Syndrome, Type 20 ⁴¹

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal recessive

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

HPO:

³³

joubert syndrome 20:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0110989

OMIM ⁵⁸ 614970

MeSH ⁴⁵ D002526 D005124 D052177

MedGen ⁴³ C3554235 CN162975

SNOMED-CT via HPO ⁷⁰ 130968006 193662007 224958001 more

UMLS ⁷⁴ C3554235

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Summaries for Joubert Syndrome 20

UniProtKB/Swiss-Prot : ⁷⁶ 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, also known as jbts20, is related to nephronophthisis and meckel syndrome, type 4. An important gene associated with Joubert Syndrome 20 is TMEM231 (Transmembrane Protein 231). Related phenotypes are respiratory insufficiency and global developmental delay

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
Joubert Syndrome 35

Diseases related to Joubert Syndrome 20 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	nephronophthisis	9.7	MKS1 NPHP4
2	meckel syndrome, type 4	9.7	MKS1 TMEM231
3	nephronophthisis 2	9.7	MKS1 NPHP4
4	bardet-biedl syndrome	9.7	MKS1 NPHP4
5	meckel syndrome, type 6	9.6	MKS1 NPHP4
6	senior-loken syndrome 1	9.5	MKS1 NPHP4
7	meckel syndrome, type 1	9.4	MKS1 NPHP4 TMEM231
8	joubert syndrome 1	9.4	MKS1 NPHP4 TMEM231

Graphical network of the top 20 diseases related to Joubert Syndrome 20:

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Symptoms & Phenotypes for Joubert Syndrome 20

Human phenotypes related to Joubert Syndrome 20:

³³ (show all 12)

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

Symptoms via clinical synopsis from OMIM:

⁵⁸

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

MGI Mouse Phenotypes related to Joubert Syndrome 20:

⁴⁷

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cardiovascular system	MP:0005385	9.13	MKS1 NPHP4 TMEM231
2	vision/eye	MP:0005391	8.8	MKS1 NPHP4 TMEM231

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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 ³⁰	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	1336.54	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ Genetic Tests ³⁰ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	23012439 20301500
2	MKS1	MKS Transition Zone Complex Subunit 1	Protein Coding	17.24	DISEASES inferred ¹⁵
3	NPHP4	Nephrocystin 4	Protein Coding	16.69	DISEASES inferred ¹⁵

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Variations for Joubert Syndrome 20

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

⁷⁶

#	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 43)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	TMEM231	NM_001077416.2(TMEM231): c.1050G> A (p.Val350=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs149888762	GRCh38	Chromosome 16, 75540054: 75540054
2	TMEM231	NM_001077416.2(TMEM231): c.1050G> A (p.Val350=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs149888762	GRCh37	Chromosome 16, 75573952: 75573952
3	TMEM231	NM_001077416.2(TMEM231): c.74T> A (p.Met25Lys)	single nucleotide variant	Pathogenic	rs397514609	GRCh37	Chromosome 16, 75590096: 75590096
4	TMEM231	NM_001077416.2(TMEM231): c.74T> A (p.Met25Lys)	single nucleotide variant	Pathogenic	rs397514609	GRCh38	Chromosome 16, 75556198: 75556198
5	TMEM231	NM_001077416.2(TMEM231): c.784G> A (p.Asp262Asn)	single nucleotide variant	Pathogenic	rs200799769	GRCh37	Chromosome 16, 75576539: 75576539
6	TMEM231	NM_001077416.2(TMEM231): c.784G> A (p.Asp262Asn)	single nucleotide variant	Pathogenic	rs200799769	GRCh38	Chromosome 16, 75542641: 75542641
7	TMEM231	NM_001077416.2(TMEM231): c.336G> C (p.Pro112=)	single nucleotide variant	Benign	rs78196225	GRCh37	Chromosome 16, 75589834: 75589834
8	TMEM231	NM_001077416.2(TMEM231): c.336G> C (p.Pro112=)	single nucleotide variant	Benign	rs78196225	GRCh38	Chromosome 16, 75555936: 75555936
9	TMEM231	NM_001077416.2(TMEM231): c.741+3A> G	single nucleotide variant	Benign	rs114290622	GRCh37	Chromosome 16, 75579247: 75579247
10	TMEM231	NM_001077416.2(TMEM231): c.741+3A> G	single nucleotide variant	Benign	rs114290622	GRCh38	Chromosome 16, 75545349: 75545349
11	TMEM231	NM_001077416.2(TMEM231): c.741+8C> G	single nucleotide variant	Benign	rs144252983	GRCh37	Chromosome 16, 75579242: 75579242
12	TMEM231	NM_001077416.2(TMEM231): c.741+8C> G	single nucleotide variant	Benign	rs144252983	GRCh38	Chromosome 16, 75545344: 75545344
13	TMEM231	NM_001077416.2(TMEM231): c.741+17T> A	single nucleotide variant	Benign	rs2738801	GRCh38	Chromosome 16, 75545335: 75545335
14	TMEM231	NM_001077416.2(TMEM231): c.741+17T> A	single nucleotide variant	Benign	rs2738801	GRCh37	Chromosome 16, 75579233: 75579233
15	TMEM231	NM_001077416.2(TMEM231): c.271C> G (p.Arg91Gly)	single nucleotide variant	Benign/Likely benign	rs375353411	GRCh38	Chromosome 16, 75556001: 75556001
16	TMEM231	NM_001077416.2(TMEM231): c.271C> G (p.Arg91Gly)	single nucleotide variant	Benign/Likely benign	rs375353411	GRCh37	Chromosome 16, 75589899: 75589899
17	TMEM231	NM_001077416.2(TMEM231): c.886T> C (p.Phe296Leu)	single nucleotide variant	Uncertain significance	rs746025189	GRCh37	Chromosome 16, 75575291: 75575291
18	TMEM231	NM_001077416.2(TMEM231): c.886T> C (p.Phe296Leu)	single nucleotide variant	Uncertain significance	rs746025189	GRCh38	Chromosome 16, 75541393: 75541393
19	TMEM231	NM_001077416.2(TMEM231): c.191C> T (p.Ser64Phe)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs377440297	GRCh37	Chromosome 16, 75589979: 75589979
20	TMEM231	NM_001077416.2(TMEM231): c.191C> T (p.Ser64Phe)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs377440297	GRCh38	Chromosome 16, 75556081: 75556081
21	TMEM231	NM_001077416.2(TMEM231): c.657G> A (p.Pro219=)	single nucleotide variant	Benign/Likely benign	rs201636741	GRCh37	Chromosome 16, 75579334: 75579334
22	TMEM231	NM_001077416.2(TMEM231): c.657G> A (p.Pro219=)	single nucleotide variant	Benign/Likely benign	rs201636741	GRCh38	Chromosome 16, 75545436: 75545436
23	TMEM231	NM_001077416.2(TMEM231): c.823+4A> G	single nucleotide variant	Pathogenic	rs760426025	GRCh38	Chromosome 16, 75542598: 75542598
24	TMEM231	NM_001077416.2(TMEM231): c.823+4A> G	single nucleotide variant	Pathogenic	rs760426025	GRCh37	Chromosome 16, 75576496: 75576496
25	TMEM231	NC_000016.10: g.(?_75539974)_(75542703_?)dup	duplication	Uncertain significance		GRCh38	Chromosome 16, 75539974: 75542703
26	TMEM231	NC_000016.10: g.(?_75539974)_(75545515_?)del	deletion	Pathogenic		GRCh38	Chromosome 16, 75539974: 75545515
27	TMEM231	NC_000016.10: g.(?_75539974)_(75545515_?)del	deletion	Pathogenic		GRCh37	Chromosome 16, 75573872: 75579413
28	TMEM231	NC_000016.10: g.(?_75539974)_(75545515_?)dup	duplication	Uncertain significance		GRCh38	Chromosome 16, 75539974: 75545515
29	TMEM231	NC_000016.10: g.(?_75539974)_(75545515_?)dup	duplication	Uncertain significance		GRCh37	Chromosome 16, 75573872: 75579413
30	TMEM231	NM_001077416.2(TMEM231): c.1086_1087invCT (p.Asp362_Leu363delinsGluVal)	inversion	Likely benign		GRCh38	Chromosome 16, 75540017: 75540018
31	TMEM231	NM_001077416.2(TMEM231): c.1086_1087invCT (p.Asp362_Leu363delinsGluVal)	inversion	Likely benign		GRCh37	Chromosome 16, 75573915: 75573916
32	TMEM231	NM_001077416.2(TMEM231): c.12G> A (p.Arg4=)	single nucleotide variant	Benign/Likely benign	rs115739052	GRCh37	Chromosome 16, 75590158: 75590158
33	TMEM231	NM_001077416.2(TMEM231): c.12G> A (p.Arg4=)	single nucleotide variant	Benign/Likely benign	rs115739052	GRCh38	Chromosome 16, 75556260: 75556260
34	TMEM231	NM_001077416.2(TMEM231): c.957A> G (p.Val319=)	single nucleotide variant	Likely benign	rs772364535	GRCh37	Chromosome 16, 75574045: 75574045
35	TMEM231	NM_001077416.2(TMEM231): c.957A> G (p.Val319=)	single nucleotide variant	Likely benign	rs772364535	GRCh38	Chromosome 16, 75540147: 75540147
36	TMEM231	NM_001077416.2(TMEM231): c.629C> T (p.Ala210Val)	single nucleotide variant	Likely benign	rs201036290	GRCh37	Chromosome 16, 75579362: 75579362
37	TMEM231	NM_001077416.2(TMEM231): c.629C> T (p.Ala210Val)	single nucleotide variant	Likely benign	rs201036290	GRCh38	Chromosome 16, 75545464: 75545464
38	TMEM231	NM_001077416.2(TMEM231): c.742-10C> T	single nucleotide variant	Likely benign	rs774265542	GRCh38	Chromosome 16, 75542693: 75542693
39	TMEM231	NM_001077416.2(TMEM231): c.742-10C> T	single nucleotide variant	Likely benign	rs774265542	GRCh37	Chromosome 16, 75576591: 75576591
40	TMEM231	NM_001077416.2(TMEM231): c.869G> C (p.Arg290Thr)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 16, 75541410: 75541410
41	TMEM231	NM_001077416.2(TMEM231): c.869G> C (p.Arg290Thr)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 16, 75575308: 75575308
42	TMEM231	NM_001077416.2(TMEM231): c.248C> A (p.Ser83Ter)	single nucleotide variant	Pathogenic		GRCh37	Chromosome 16, 75589922: 75589922
43	TMEM231	NM_001077416.2(TMEM231): c.248C> A (p.Ser83Ter)	single nucleotide variant	Pathogenic		GRCh38	Chromosome 16, 75556024: 75556024

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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

Cellular components related to Joubert Syndrome 20 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	cell projection	GO:0042995	9.43	MKS1 NPHP4 TMEM231
2	centrosome	GO:0005813	9.4	MKS1 NPHP4
3	microtubule organizing center	GO:0005815	9.37	MKS1 NPHP4
4	cilium	GO:0005929	9.33	MKS1 NPHP4 TMEM231
5	ciliary basal body	GO:0036064	9.32	MKS1 NPHP4
6	MKS complex	GO:0036038	8.96	MKS1 TMEM231
7	ciliary transition zone	GO:0035869	8.8	MKS1 NPHP4 TMEM231

Biological processes related to Joubert Syndrome 20 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	cilium assembly	GO:0060271	9.26	MKS1 TMEM231
2	cell projection organization	GO:0030030	9.16	MKS1 TMEM231
3	ciliary basal body-plasma membrane docking	GO:0097711	8.96	MKS1 NPHP4
4	embryonic digit morphogenesis	GO:0042733	8.62	MKS1 TMEM231

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Sources for Joubert Syndrome 20

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

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¹⁴ DiseaseEnhancer

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²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Joubert Syndrome 20 (JBTS20)

Aliases & Classifications for Joubert Syndrome 20

MalaCards integrated aliases for Joubert Syndrome 20:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Joubert Syndrome 20

Related Diseases for Joubert Syndrome 20

Diseases in the Joubert Syndrome 1 family:

Diseases related to Joubert Syndrome 20 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Joubert Syndrome 20:

Symptoms & Phenotypes for Joubert Syndrome 20

Human phenotypes related to Joubert Syndrome 20:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

MGI Mouse Phenotypes related to Joubert Syndrome 20:

Drugs & Therapeutics for Joubert Syndrome 20

Genetic Tests for Joubert Syndrome 20

Genetic tests related to Joubert Syndrome 20:

Anatomical Context for Joubert Syndrome 20

Publications for Joubert Syndrome 20

Genes for Joubert Syndrome 20

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

Variations for Joubert Syndrome 20

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

ClinVar genetic disease variations for Joubert Syndrome 20:

Expression for Joubert Syndrome 20

Pathways for Joubert Syndrome 20

GO Terms for Joubert Syndrome 20

Cellular components related to Joubert Syndrome 20 according to GeneCards Suite gene sharing:

Biological processes related to Joubert Syndrome 20 according to GeneCards Suite gene sharing:

Sources for Joubert Syndrome 20