JBTS20
MCID: JBR022
MIFTS: 32

Joubert Syndrome 20 (JBTS20)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases

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:



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). Affiliated tissues include liver and eye, and 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

Related Diseases for Joubert Syndrome 20

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



Diseases related to Joubert Syndrome 20

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

Drugs & Therapeutics for Joubert Syndrome 20

Search Clinical Trials , NIH Clinical Center for Joubert Syndrome 20

Genetic Tests for Joubert Syndrome 20

Genetic tests related to Joubert Syndrome 20:

# Genetic test Affiliating Genes
1 Joubert Syndrome 20 30 TMEM231

Anatomical Context for Joubert Syndrome 20

MalaCards organs/tissues related to Joubert Syndrome 20:

42
Liver, Eye

Publications for Joubert Syndrome 20

Articles related to Joubert Syndrome 20:

# Title Authors Year
1
Mutations in TMEM231 cause Joubert syndrome in French Canadians. ( 23012439 )
2012

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 45)
# 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 Conflicting interpretations of pathogenicity rs200799769 GRCh37 Chromosome 16, 75576539: 75576539
4 TMEM231 NM_001077416.2(TMEM231): c.784G> A (p.Asp262Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs200799769 GRCh38 Chromosome 16, 75542641: 75542641
5 TMEM231 NM_001077416.2(TMEM231): c.336G> C (p.Pro112=) single nucleotide variant Benign rs78196225 GRCh37 Chromosome 16, 75589834: 75589834
6 TMEM231 NM_001077416.2(TMEM231): c.336G> C (p.Pro112=) single nucleotide variant Benign rs78196225 GRCh38 Chromosome 16, 75555936: 75555936
7 TMEM231 NM_001077416.2(TMEM231): c.741+3A> G single nucleotide variant Benign rs114290622 GRCh37 Chromosome 16, 75579247: 75579247
8 TMEM231 NM_001077416.2(TMEM231): c.741+3A> G single nucleotide variant Benign rs114290622 GRCh38 Chromosome 16, 75545349: 75545349
9 TMEM231 NM_001077416.2(TMEM231): c.741+8C> G single nucleotide variant Benign rs144252983 GRCh37 Chromosome 16, 75579242: 75579242
10 TMEM231 NM_001077416.2(TMEM231): c.741+8C> G single nucleotide variant Benign rs144252983 GRCh38 Chromosome 16, 75545344: 75545344
11 TMEM231 NM_001077416.2(TMEM231): c.1050G> A (p.Val350=) single nucleotide variant Conflicting interpretations of pathogenicity rs149888762 GRCh38 Chromosome 16, 75540054: 75540054
12 TMEM231 NM_001077416.2(TMEM231): c.1050G> A (p.Val350=) single nucleotide variant Conflicting interpretations of pathogenicity rs149888762 GRCh37 Chromosome 16, 75573952: 75573952
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.950A> C (p.Glu317Ala) single nucleotide variant Uncertain significance rs199605221 GRCh37 Chromosome 16, 75574052: 75574052
20 TMEM231 NM_001077416.2(TMEM231): c.950A> C (p.Glu317Ala) single nucleotide variant Uncertain significance rs199605221 GRCh38 Chromosome 16, 75540154: 75540154
21 TMEM231 NM_001077416.2(TMEM231): c.191C> T (p.Ser64Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs377440297 GRCh37 Chromosome 16, 75589979: 75589979
22 TMEM231 NM_001077416.2(TMEM231): c.191C> T (p.Ser64Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs377440297 GRCh38 Chromosome 16, 75556081: 75556081
23 TMEM231 NM_001077416.2(TMEM231): c.657G> A (p.Pro219=) single nucleotide variant Benign/Likely benign rs201636741 GRCh37 Chromosome 16, 75579334: 75579334
24 TMEM231 NM_001077416.2(TMEM231): c.657G> A (p.Pro219=) single nucleotide variant Benign/Likely benign rs201636741 GRCh38 Chromosome 16, 75545436: 75545436
25 TMEM231 NM_001077416.2(TMEM231): c.823+4A> G single nucleotide variant Pathogenic rs760426025 GRCh38 Chromosome 16, 75542598: 75542598
26 TMEM231 NM_001077416.2(TMEM231): c.823+4A> G single nucleotide variant Pathogenic rs760426025 GRCh37 Chromosome 16, 75576496: 75576496
27 TMEM231 NC_000016.10: g.(?_75539974)_(75542703_?)dup duplication Uncertain significance GRCh38 Chromosome 16, 75539974: 75542703
28 TMEM231 NC_000016.10: g.(?_75539974)_(75545515_?)del deletion Pathogenic GRCh38 Chromosome 16, 75539974: 75545515
29 TMEM231 NC_000016.10: g.(?_75539974)_(75545515_?)del deletion Pathogenic GRCh37 Chromosome 16, 75573872: 75579413
30 TMEM231 NC_000016.10: g.(?_75539974)_(75545515_?)dup duplication Uncertain significance GRCh37 Chromosome 16, 75573872: 75579413
31 TMEM231 NC_000016.10: g.(?_75539974)_(75545515_?)dup duplication Uncertain significance GRCh38 Chromosome 16, 75539974: 75545515
32 TMEM231 NM_001077416.2(TMEM231): c.1086_1087invCT (p.Asp362_Leu363delinsGluVal) inversion Likely benign GRCh37 Chromosome 16, 75573915: 75573916
33 TMEM231 NM_001077416.2(TMEM231): c.1086_1087invCT (p.Asp362_Leu363delinsGluVal) inversion Likely benign GRCh38 Chromosome 16, 75540017: 75540018
34 TMEM231 NM_001077416.2(TMEM231): c.12G> A (p.Arg4=) single nucleotide variant Benign/Likely benign rs115739052 GRCh37 Chromosome 16, 75590158: 75590158
35 TMEM231 NM_001077416.2(TMEM231): c.12G> A (p.Arg4=) single nucleotide variant Benign/Likely benign rs115739052 GRCh38 Chromosome 16, 75556260: 75556260
36 TMEM231 NM_001077416.2(TMEM231): c.957A> G (p.Val319=) single nucleotide variant Likely benign rs772364535 GRCh37 Chromosome 16, 75574045: 75574045
37 TMEM231 NM_001077416.2(TMEM231): c.957A> G (p.Val319=) single nucleotide variant Likely benign rs772364535 GRCh38 Chromosome 16, 75540147: 75540147
38 TMEM231 NM_001077416.2(TMEM231): c.629C> T (p.Ala210Val) single nucleotide variant Likely benign rs201036290 GRCh37 Chromosome 16, 75579362: 75579362
39 TMEM231 NM_001077416.2(TMEM231): c.629C> T (p.Ala210Val) single nucleotide variant Likely benign rs201036290 GRCh38 Chromosome 16, 75545464: 75545464
40 TMEM231 NM_001077416.2(TMEM231): c.742-10C> T single nucleotide variant Likely benign rs774265542 GRCh38 Chromosome 16, 75542693: 75542693
41 TMEM231 NM_001077416.2(TMEM231): c.742-10C> T single nucleotide variant Likely benign rs774265542 GRCh37 Chromosome 16, 75576591: 75576591
42 TMEM231 NM_001077416.2(TMEM231): c.869G> C (p.Arg290Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 75541410: 75541410
43 TMEM231 NM_001077416.2(TMEM231): c.869G> C (p.Arg290Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 75575308: 75575308
44 TMEM231 NM_001077416.2(TMEM231): c.248C> A (p.Ser83Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 16, 75589922: 75589922
45 TMEM231 NM_001077416.2(TMEM231): c.248C> A (p.Ser83Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 16, 75556024: 75556024

Expression for Joubert Syndrome 20

Search GEO for disease gene expression data 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:

# 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

Sources for Joubert Syndrome 20

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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