JBTS20
MCID: JBR022
MIFTS: 36

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 57 12 72 29 13 6 15 70
Jbts20 57 12 72
Joubert Syndrome, Type 20 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
joubert syndrome 20:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0110989
OMIM® 57 614970
OMIM Phenotypic Series 57 PS213300
UMLS 70 C3554235

Summaries for Joubert Syndrome 20

UniProtKB/Swiss-Prot : 72 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 galloway-mowat syndrome 2 and meckel syndrome, type 7. An important gene associated with Joubert Syndrome 20 is TMEM231 (Transmembrane Protein 231). Affiliated tissues include eye and liver, 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.

More information from OMIM: 614970 PS213300

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 Joubert Syndrome 36
Joubert Syndrome 37

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

(show all 22)
# Related Disease Score Top Affiliating Genes
1 galloway-mowat syndrome 2 10.1 MIR142 MIR103A1
2 meckel syndrome, type 7 10.0 TMEM237 TMEM231
3 ciliopathy 9.8 TMEM231 NPHP4
4 nephronophthisis 12 9.8 TMEM237 NPHP4
5 joubert syndrome 15 9.8 TMEM237 TMEM231 NPHP4
6 meckel syndrome, type 2 9.7 TMEM237 TMEM231 NPHP4
7 joubert syndrome 4 9.7 TMEM237 NPHP4
8 meckel syndrome, type 3 9.7 TMEM237 TMEM231 NPHP4
9 meckel syndrome, type 4 9.7 TMEM237 TMEM231 NPHP4
10 coach syndrome 1 9.7 TMEM237 TMEM231 NPHP4
11 arima syndrome 9.7 TMEM237 TMEM231 NPHP4
12 coloboma of macula 9.7 TMEM237 TMEM231 NPHP4
13 asphyxiating thoracic dystrophy 9.6 TMEM237 TMEM231 NPHP4
14 orofaciodigital syndrome 9.6 TMEM231 TMEM17 TMEM107
15 orofaciodigital syndrome vi 9.6 TMEM237 TMEM231 TMEM17
16 joubert syndrome 1 9.5 TMEM237 TMEM231 TMEM107 NPHP4
17 fundus dystrophy 9.2 TMEM237 TMEM231 TMEM107 NPHP4
18 joubert syndrome 14 9.1 TMEM237 TMEM231 TMEM17 TMEM107 NPHP4
19 meckel syndrome, type 5 9.1 TMEM237 TMEM231 TMEM17 TMEM107 NPHP4
20 meckel syndrome, type 6 9.1 TMEM237 TMEM231 TMEM17 TMEM107 NPHP4
21 meckel syndrome, type 1 9.1 TMEM237 TMEM231 TMEM17 TMEM107 NPHP4
22 nephronophthisis 9.1 TMEM237 TMEM231 TMEM17 TMEM107 NPHP4

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:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 respiratory insufficiency 31 obligate (100%) HP:0002093
2 global developmental delay 31 obligate (100%) HP:0001263
3 absent speech 31 obligate (100%) HP:0001344
4 molar tooth sign on mri 31 obligate (100%) HP:0002419
5 oculomotor apraxia 31 obligate (100%) HP:0000657
6 renal cyst 31 frequent (33%) HP:0000107
7 aggressive behavior 31 frequent (33%) HP:0000718
8 self-mutilation 31 frequent (33%) HP:0000742
9 abnormal retinal morphology 31 frequent (33%) HP:0000479
10 postaxial polydactyly 31 frequent (33%) HP:0100259
11 retinopathy 31 occasional (7.5%) HP:0000488
12 syndactyly 31 occasional (7.5%) HP:0001159

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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 29 TMEM231

Anatomical Context for Joubert Syndrome 20

MalaCards organs/tissues related to Joubert Syndrome 20:

40
Eye, Liver

Publications for Joubert Syndrome 20

Articles related to Joubert Syndrome 20:

# Title Authors PMID Year
1
Mutations in TMEM231 cause Joubert syndrome in French Canadians. 57 6
23012439 2012
2
TMEM231 Gene Conversion Associated with Joubert and Meckel-Gruber Syndromes in the Same Family. 6
27449316 2016
3
TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone. 6
25869670 2015
4
A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain. 57
22179047 2011
5
Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization. 6
17576681 2007
6
Statistical features of human exons and their flanking regions. 6
9536098 1998
7
TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome. 61
26595381 2016

Variations for Joubert Syndrome 20

ClinVar genetic disease variations for Joubert Syndrome 20:

6 (show top 50) (show all 70)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TMEM231 NM_001077418.3(TMEM231):c.625G>A (p.Asp209Asn) SNV Pathogenic 39822 rs200799769 GRCh37: 16:75576539-75576539
GRCh38: 16:75542641-75542641
2 TMEM231 NC_000016.10:g.(?_75539974)_(75545515_?)del Deletion Pathogenic 473319 GRCh37: 16:75573872-75579413
GRCh38: 16:75539974-75545515
3 TMEM231 NM_001077418.3(TMEM231):c.625G>A (p.Asp209Asn) SNV Pathogenic 39822 rs200799769 GRCh37: 16:75576539-75576539
GRCh38: 16:75542641-75542641
4 TMEM231 NM_001077418.3(TMEM231):c.664+4A>G SNV Pathogenic 437009 rs760426025 GRCh37: 16:75576496-75576496
GRCh38: 16:75542598-75542598
5 TMEM231 NM_001077418.3(TMEM231):c.139+47C>A SNV Pathogenic 565503 rs200063331 GRCh37: 16:75589922-75589922
GRCh38: 16:75556024-75556024
6 TMEM231 NM_001077418.3(TMEM231):c.505del (p.Gln169fs) Deletion Pathogenic 998194 GRCh37: 16:75579327-75579327
GRCh38: 16:75545429-75545429
7 TMEM231 NM_001077418.3(TMEM231):c.139+47C>A SNV Pathogenic 565503 rs200063331 GRCh37: 16:75589922-75589922
GRCh38: 16:75556024-75556024
8 TMEM231 NM_001077416.2(TMEM231):c.1A>C (p.Met1Leu) SNV Pathogenic 1028503 GRCh37: 16:75590169-75590169
GRCh38: 16:75556271-75556271
9 TMEM231 NM_001077416.2(TMEM231):c.74T>A (p.Met25Lys) SNV Pathogenic 39821 rs397514609 GRCh37: 16:75590096-75590096
GRCh38: 16:75556198-75556198
10 TMEM231 NM_001077418.3(TMEM231):c.438+5G>C SNV Likely pathogenic 971624 GRCh37: 16:75579719-75579719
GRCh38: 16:75545821-75545821
11 TMEM231 NM_001077418.3(TMEM231):c.248G>A (p.Trp83Ter) SNV Likely pathogenic 1028502 GRCh37: 16:75589763-75589763
GRCh38: 16:75555865-75555865
12 TMEM231 NM_001077418.3(TMEM231):c.710G>C (p.Arg237Thr) SNV Conflicting interpretations of pathogenicity 570416 rs199813223 GRCh37: 16:75575308-75575308
GRCh38: 16:75541410-75541410
13 TMEM231 NM_001077418.3(TMEM231):c.791A>C (p.Glu264Ala) SNV Uncertain significance 286672 rs199605221 GRCh37: 16:75574052-75574052
GRCh38: 16:75540154-75540154
14 TMEM231 NM_001077418.3(TMEM231):c.11A>G (p.Tyr4Cys) SNV Uncertain significance 646847 rs1597051521 GRCh37: 16:75590097-75590097
GRCh38: 16:75556199-75556199
15 TMEM231 NM_001077418.3(TMEM231):c.176C>A (p.Pro59Gln) SNV Uncertain significance 648618 rs774528098 GRCh37: 16:75589835-75589835
GRCh38: 16:75555937-75555937
16 TMEM231 NM_001077418.3(TMEM231):c.754C>G (p.Pro252Ala) SNV Uncertain significance 649504 rs1295551040 GRCh37: 16:75575264-75575264
GRCh38: 16:75541366-75541366
17 TMEM231 NM_001077416.2(TMEM231):c.10A>G (p.Arg4Gly) SNV Uncertain significance 657708 rs1176007249 GRCh37: 16:75590160-75590160
GRCh38: 16:75556262-75556262
18 TMEM231 NM_001077418.3(TMEM231):c.494T>A (p.Val165Asp) SNV Uncertain significance 665253 rs1597041448 GRCh37: 16:75579338-75579338
GRCh38: 16:75545440-75545440
19 TMEM231 NM_001077418.3(TMEM231):c.244G>T (p.Ala82Ser) SNV Uncertain significance 803273 rs541195377 GRCh37: 16:75589767-75589767
GRCh38: 16:75555869-75555869
20 TMEM231 NM_001077418.3(TMEM231):c.727T>C (p.Phe243Leu) SNV Uncertain significance 285611 rs746025189 GRCh37: 16:75575291-75575291
GRCh38: 16:75541393-75541393
21 TMEM231 Duplication Uncertain significance 473318 GRCh37:
GRCh38: 16:75539974-75542703
22 TMEM231 NC_000016.9:g.(?_75573872)_(75579413_?)dup Duplication Uncertain significance 473320 GRCh37: 16:75573872-75579413
GRCh38: 16:75539974-75545515
23 TMEM231 NM_001077418.3(TMEM231):c.380A>C (p.Gln127Pro) SNV Uncertain significance 936566 GRCh37: 16:75579782-75579782
GRCh38: 16:75545884-75545884
24 TMEM231 NM_001077418.3(TMEM231):c.843C>G (p.Leu281=) SNV Uncertain significance 939661 GRCh37: 16:75574000-75574000
GRCh38: 16:75540102-75540102
25 TMEM231 NM_001077418.3(TMEM231):c.777G>T (p.Gln259His) SNV Uncertain significance 939662 GRCh37: 16:75574066-75574066
GRCh38: 16:75540168-75540168
26 TMEM231 NM_001077418.3(TMEM231):c.140-33C>G SNV Uncertain significance 1028504 GRCh37: 16:75589904-75589904
GRCh38: 16:75556006-75556006
27 TMEM231 NM_001077418.3(TMEM231):c.373C>G (p.Pro125Ala) SNV Uncertain significance 871667 GRCh37: 16:75579789-75579789
GRCh38: 16:75545891-75545891
28 TMEM231 NM_001077418.3(TMEM231):c.377T>C (p.Leu126Pro) SNV Uncertain significance 1033247 GRCh37: 16:75579785-75579785
GRCh38: 16:75545887-75545887
29 TMEM231 NM_001077418.3(TMEM231):c.582+6A>G SNV Uncertain significance 379405 rs376300743 GRCh37: 16:75579244-75579244
GRCh38: 16:75545346-75545346
30 TMEM231 NM_001077418.3(TMEM231):c.770+3A>G SNV Uncertain significance 1045110 GRCh37: 16:75575245-75575245
GRCh38: 16:75541347-75541347
31 TMEM231 NM_001077418.3(TMEM231):c.653A>G (p.Gln218Arg) SNV Uncertain significance 1046518 GRCh37: 16:75576511-75576511
GRCh38: 16:75542613-75542613
32 TMEM231 NM_001077418.3(TMEM231):c.322G>A (p.Asp108Asn) SNV Uncertain significance 1052480 GRCh37: 16:75579840-75579840
GRCh38: 16:75545942-75545942
33 TMEM231 NM_001077418.3(TMEM231):c.-40C>G SNV Uncertain significance 419048 rs114889548 GRCh37: 16:75590147-75590147
GRCh38: 16:75556249-75556249
34 TMEM231 NM_001077418.3(TMEM231):c.582C>T (p.Asn194=) SNV Uncertain significance 379404 rs199776253 GRCh37: 16:75579250-75579250
GRCh38: 16:75545352-75545352
35 TMEM231 NM_001077418.3(TMEM231):c.621C>G (p.Asp207Glu) SNV Uncertain significance 1059988 GRCh37: 16:75576543-75576543
GRCh38: 16:75542645-75542645
36 TMEM231 NM_001077418.3(TMEM231):c.786C>G (p.Phe262Leu) SNV Uncertain significance 1062223 GRCh37: 16:75574057-75574057
GRCh38: 16:75540159-75540159
37 TMEM231 NM_001077418.3(TMEM231):c.309G>C (p.Ser103=) SNV Uncertain significance 1062942 GRCh37: 16:75589702-75589702
GRCh38: 16:75555804-75555804
38 TMEM231 NM_001077418.3(TMEM231):c.454G>A (p.Val152Met) SNV Uncertain significance 1001022 GRCh37: 16:75579378-75579378
GRCh38: 16:75545480-75545480
39 TMEM231 NM_001077418.3(TMEM231):c.247T>G (p.Trp83Gly) SNV Uncertain significance 1005050 GRCh37: 16:75589764-75589764
GRCh38: 16:75555866-75555866
40 TMEM231 NM_001077418.3(TMEM231):c.663C>T (p.Asn221=) SNV Uncertain significance 1014982 GRCh37: 16:75576501-75576501
GRCh38: 16:75542603-75542603
41 TMEM231 NM_001077416.2(TMEM231):c.19C>A (p.Gln7Lys) SNV Uncertain significance 1025278 GRCh37: 16:75590151-75590151
GRCh38: 16:75556253-75556253
42 TMEM231 NM_001077418.3(TMEM231):c.45C>T (p.Tyr15=) SNV Uncertain significance 1026754 GRCh37: 16:75590063-75590063
GRCh38: 16:75556165-75556165
43 TMEM231 NM_001077418.3(TMEM231):c.380A>G (p.Gln127Arg) SNV Uncertain significance 857940 GRCh37: 16:75579782-75579782
GRCh38: 16:75545884-75545884
44 TMEM231 NM_001077418.3(TMEM231):c.140-30A>C SNV Uncertain significance 863877 GRCh37: 16:75589901-75589901
GRCh38: 16:75556003-75556003
45 TMEM231 NM_001077418.3(TMEM231):c.129C>T (p.Phe43=) SNV Likely benign 287699 rs377440297 GRCh37: 16:75589979-75589979
GRCh38: 16:75556081-75556081
46 TMEM231 NM_001077418.3(TMEM231):c.-15C>T SNV Likely benign 676718 rs138060715 GRCh37: 16:75590122-75590122
GRCh38: 16:75556224-75556224
47 TMEM231 NM_001077418.3(TMEM231):c.927_928inv (p.Asp309_Leu310delinsGluVal) Inversion Likely benign 473321 GRCh37: 16:75573915-75573916
GRCh38: 16:75540017-75540018
48 TMEM231 NM_001077416.2(TMEM231):c.12G>A (p.Arg4=) SNV Likely benign 516234 rs115739052 GRCh37: 16:75590158-75590158
GRCh38: 16:75556260-75556260
49 TMEM231 NM_001077418.3(TMEM231):c.583-10C>T SNV Likely benign 540544 rs774265542 GRCh37: 16:75576591-75576591
GRCh38: 16:75542693-75542693
50 TMEM231 NM_001077418.3(TMEM231):c.470C>T (p.Ala157Val) SNV Likely benign 540545 rs201036290 GRCh37: 16:75579362-75579362
GRCh38: 16:75545464-75545464

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

72
# Symbol AA change Variation ID SNP ID
1 TMEM231 p.Asp209Asn VAR_069044 rs200799769

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 9.65 TMEM237 TMEM231 TMEM17 TMEM107 NPHP4
2 cilium GO:0005929 9.55 TMEM237 TMEM231 TMEM17 TMEM107 NPHP4
3 ciliary membrane GO:0060170 9.37 TMEM231 TMEM17
4 photoreceptor connecting cilium GO:0032391 9.32 TMEM237 NPHP4
5 MKS complex GO:0036038 9.13 TMEM231 TMEM17 TMEM107
6 ciliary transition zone GO:0035869 9.02 TMEM237 TMEM231 TMEM17 TMEM107 NPHP4

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

# Name GO ID Score Top Affiliating Genes
1 smoothened signaling pathway GO:0007224 9.37 TMEM231 TMEM17
2 embryonic digit morphogenesis GO:0042733 9.32 TMEM231 TMEM107
3 non-motile cilium assembly GO:1905515 9.26 TMEM17 TMEM107
4 cilium assembly GO:0060271 9.26 TMEM237 TMEM231 TMEM17 TMEM107
5 protein localization to ciliary transition zone GO:1904491 9.16 TMEM107 NPHP4
6 cell projection organization GO:0030030 8.92 TMEM237 TMEM231 TMEM17 TMEM107

Sources for Joubert Syndrome 20

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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