JBTS23
MCID: JBR042
MIFTS: 38

Joubert Syndrome 23 (JBTS23)

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

Aliases & Classifications for Joubert Syndrome 23

MalaCards integrated aliases for Joubert Syndrome 23:

Name: Joubert Syndrome 23 57 12 72 29 6 15
Jbts23 57 12 72
Joubert Syndrome, Type 23 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
relatively mild phenotype
nine patients have been reported (last curated july 2015)


HPO:

31
joubert syndrome 23:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110992
OMIM® 57 616490
OMIM Phenotypic Series 57 PS213300

Summaries for Joubert Syndrome 23

OMIM® : 57 Joubert syndrome-23 is an autosomal recessive neurodevelopmental disorder characterized by delayed development, abnormal eye movements, and abnormal breathing pattern associated with a characteristic hindbrain malformation apparent on brain imaging and known as the 'molar tooth sign.' Compared to other forms of Joubert syndrome, the phenotype is relatively mild, and other organ systems are generally not affected (summary by Bachmann-Gagescu et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see 213300. (616490) (Updated 05-Apr-2021)

MalaCards based summary : Joubert Syndrome 23, also known as jbts23, is related to short-rib thoracic dysplasia 14 with polydactyly and joubert syndrome 1. An important gene associated with Joubert Syndrome 23 is KIAA0586 (KIAA0586). Affiliated tissues include eye, brain and heart, and related phenotypes are coloboma and polydactyly

Disease Ontology : 12 A Joubert syndrome characterized by delayed development, abnormal eye movements, and abnormal breathing pattern, and molar tooth sign on brain MRI that has material basis in homozygous or compound heterozygous mutation in the KIAA0586 gene on chromosome 14q23.

UniProtKB/Swiss-Prot : 72 Joubert syndrome 23: A mild 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.

Related Diseases for Joubert Syndrome 23

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 23 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 31)
# Related Disease Score Top Affiliating Genes
1 short-rib thoracic dysplasia 14 with polydactyly 28.9 ZNF141 KIAA0586 IQCE CNTLN
2 joubert syndrome 1 28.3 KIF24 KIAA0586 DZANK1 CNTLN CEP97 CCP110
3 microphthalmia, syndromic 5 10.2 TRMT5 TMEM260
4 orofaciodigital syndrome ix 10.1 DZANK1 CCDC120
5 seckel syndrome 7 10.1 DZANK1 CCDC120
6 retinitis pigmentosa 54 10.1 DZANK1 CCDC120
7 spinocerebellar ataxia 11 10.0 CEP97 CCP110
8 cone-rod dystrophy 16 10.0 DZANK1 CCDC120
9 ataxia and polyneuropathy, adult-onset 10.0
10 epilepsy 10.0
11 hypotonia 10.0
12 orofaciodigital syndrome i 9.9 KIF24 CEP97 CCP110
13 joubert syndrome 5 9.9 KIF24 CEP97 CCP110
14 spinocerebellar ataxia 29 9.9
15 ciliopathy 9.9
16 joubert syndrome with jeune asphyxiating thoracic dystrophy 9.9
17 weyers acrofacial dysostosis 9.9 KIAA0586 IQCE
18 syndactyly, type iv 9.8 ZNF141 IQCE
19 greig cephalopolysyndactyly syndrome 9.8 ZNF141 IQCE
20 laurin-sandrow syndrome 9.8 ZNF141 IQCE
21 polydactyly 9.8 ZNF141 KIAA0586 IQCE
22 cone-rod dystrophy 20 9.8 KIF24 DZANK1 CEP97 CCDC120
23 polydactyly, postaxial, type a1 9.7 ZNF141 IQCE
24 joubert syndrome 3 9.7 DZANK1 CNTLN CCDC120
25 senior-loken syndrome 1 9.6 CNTLN CEP97 CCP110
26 acrocallosal syndrome 9.6 ZNF141 IQCE
27 joubert syndrome 4 9.5 KIAA0586 DZANK1 CNTLN CCDC120
28 mosaic variegated aneuploidy syndrome 9.5 KIF24 CNTLN CEP97 CCP110
29 meckel syndrome, type 1 9.3 KIF24 KIAA0586 CNTLN CEP97 CCP110
30 nephronophthisis 9.3 KIF24 KIAA0586 CNTLN CEP97 CCP110
31 fundus dystrophy 9.3 KIAA0586 DZANK1 CNTLN CEP97 CCP110

Graphical network of the top 20 diseases related to Joubert Syndrome 23:



Diseases related to Joubert Syndrome 23

Symptoms & Phenotypes for Joubert Syndrome 23

Human phenotypes related to Joubert Syndrome 23:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 coloboma 31 occasional (7.5%) HP:0000589
2 polydactyly 31 occasional (7.5%) HP:0010442
3 cerebellar dysplasia 31 occasional (7.5%) HP:0007033
4 dysplastic corpus callosum 31 occasional (7.5%) HP:0006989
5 abnormality of eye movement 31 HP:0000496
6 global developmental delay 31 HP:0001263
7 apnea 31 HP:0002104
8 tachypnea 31 HP:0002789

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Respiratory:
apnea
tachypnea

Neurologic Central Nervous System:
delayed development
molar tooth sign on brain imaging
cerebellar dysplasia (1 patient)
brainstem heterotopia (2 patients)
dysplastic corpus callosum (1 patient)

Head And Neck Eyes:
coloboma (1 patient)
abnormal eye movements

Skeletal Hands:
polydactyly (1 patient)

Clinical features from OMIM®:

616490 (Updated 05-Apr-2021)

Drugs & Therapeutics for Joubert Syndrome 23

Search Clinical Trials , NIH Clinical Center for Joubert Syndrome 23

Genetic Tests for Joubert Syndrome 23

Genetic tests related to Joubert Syndrome 23:

# Genetic test Affiliating Genes
1 Joubert Syndrome 23 29 KIAA0586

Anatomical Context for Joubert Syndrome 23

MalaCards organs/tissues related to Joubert Syndrome 23:

40
Eye, Brain, Heart

Publications for Joubert Syndrome 23

Articles related to Joubert Syndrome 23:

(show all 13)
# Title Authors PMID Year
1
KIAA0586 is Mutated in Joubert Syndrome. 57 6
26096313 2015
2
TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23). 61 6
26386247 2015
3
Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome. 6
30120217 2019
4
Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies. 6
29068549 2018
5
Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center. 6
28125082 2017
6
Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center. 6
28497568 2017
7
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 6
26938784 2016
8
Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes. 6
26386044 2015
9
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families. 6
26437029 2015
10
Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome. 6
26166481 2015
11
Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome. 6
26026149 2015
12
[The use of mildronat in heart failure in patients with chronic ischemic heart disease]. 6
2609613 1989
13
Sudden death in epilepsy and ectopic neurohypophysis in Joubert syndrome 23 diagnosed using SNVs/indels and structural variants pipelines on WGS data: a case report. 61
32381069 2020

Variations for Joubert Syndrome 23

ClinVar genetic disease variations for Joubert Syndrome 23:

6 (show top 50) (show all 119)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KIAA0586 NM_001329943.3(KIAA0586):c.1000C>T (p.Gln334Ter) SNV Pathogenic 204595 rs796052128 GRCh37: 14:58917335-58917335
GRCh38: 14:58450617-58450617
2 KIAA0586 NM_001329943.3(KIAA0586):c.1538A>T (p.Asp513Val) SNV Pathogenic 204597 rs796052129 GRCh37: 14:58924652-58924652
GRCh38: 14:58457934-58457934
3 KIAA0586 NM_001329943.3(KIAA0586):c.1271_1274delinsGA (p.Glu424fs) Indel Pathogenic 217666 rs869312856 GRCh37: 14:58923437-58923440
GRCh38: 14:58456719-58456722
4 KIAA0586 NM_001329943.3(KIAA0586):c.3144G>A (p.Pro1048=) SNV Pathogenic 217667 rs540255320 GRCh37: 14:58949430-58949430
GRCh38: 14:58482712-58482712
5 KIAA0586 NM_001329943.3(KIAA0586):c.643C>T (p.Gln215Ter) SNV Pathogenic 217669 rs201097695 GRCh37: 14:58910729-58910729
GRCh38: 14:58444011-58444011
6 KIAA0586 NM_001329943.3(KIAA0586):c.1571_1575del (p.Leu524fs) Deletion Pathogenic 217668 rs863225203 GRCh37: 14:58924684-58924688
GRCh38: 14:58457966-58457970
7 KIAA0586 NM_001329943.3(KIAA0586):c.790C>T (p.Gln264Ter) SNV Pathogenic 369671 rs1057516038 GRCh37: 14:58910876-58910876
GRCh38: 14:58444158-58444158
8 KIAA0586 NC_000014.9:g.(?_58443934)_(58450766_?)del Deletion Pathogenic 583841 GRCh37: 14:58910652-58917484
GRCh38: 14:58443934-58450766
9 KIAA0586 NM_001329943.3(KIAA0586):c.831C>T (p.Leu277=) SNV Pathogenic 475455 rs780520735 GRCh37: 14:58915081-58915081
GRCh38: 14:58448363-58448363
10 KIAA0586 NM_001329943.3(KIAA0586):c.2504_2508del (p.Leu835fs) Deletion Pathogenic 542183 rs1410766981 GRCh37: 14:58937392-58937396
GRCh38: 14:58470674-58470678
11 KIAA0586 NM_001329943.3(KIAA0586):c.38dup (p.Ile14fs) Duplication Pathogenic 575236 rs745949846 GRCh37: 14:58895012-58895013
GRCh38: 14:58428294-58428295
12 KIAA0586 NM_001329943.3(KIAA0586):c.1804C>T (p.Gln602Ter) SNV Pathogenic 565469 rs1566827747 GRCh37: 14:58926708-58926708
GRCh38: 14:58459990-58459990
13 KIAA0586 NM_001329943.3(KIAA0586):c.1629G>A (p.Trp543Ter) SNV Pathogenic 930820 GRCh37: 14:58925236-58925236
GRCh38: 14:58458518-58458518
14 KIAA0586 NM_001329943.3(KIAA0586):c.1708C>T (p.Gln570Ter) SNV Pathogenic 933557 GRCh37: 14:58926612-58926612
GRCh38: 14:58459894-58459894
15 KIAA0586 NM_001329943.3(KIAA0586):c.730G>T (p.Glu244Ter) SNV Pathogenic 940430 GRCh37: 14:58910816-58910816
GRCh38: 14:58444098-58444098
16 KIAA0586 NM_001329943.3(KIAA0586):c.2255-1G>C SNV Pathogenic 984710 GRCh37: 14:58934452-58934452
GRCh38: 14:58467734-58467734
17 KIAA0586 NM_001329943.3(KIAA0586):c.1254-1G>C SNV Pathogenic 204594 rs757350052 GRCh37: 14:58923419-58923419
GRCh38: 14:58456701-58456701
18 KIAA0586 NM_001329943.3(KIAA0586):c.1254-1G>C SNV Pathogenic 204594 rs757350052 GRCh37: 14:58923419-58923419
GRCh38: 14:58456701-58456701
19 KIAA0586 NM_001329943.3(KIAA0586):c.789dup (p.Gln264fs) Duplication Pathogenic 524064 rs1203751352 GRCh37: 14:58910873-58910874
GRCh38: 14:58444155-58444156
20 KIAA0586 NM_001329943.3(KIAA0586):c.2353C>T (p.Arg785Ter) SNV Pathogenic 418265 rs1064793157 GRCh37: 14:58934551-58934551
GRCh38: 14:58467833-58467833
21 KIAA0586 NM_001329943.3(KIAA0586):c.3144G>A (p.Pro1048=) SNV Pathogenic 217667 rs540255320 GRCh37: 14:58949430-58949430
GRCh38: 14:58482712-58482712
22 KIAA0586 NM_001329943.3(KIAA0586):c.3668C>G (p.Ser1223Ter) SNV Pathogenic 854917 GRCh37: 14:58955479-58955479
GRCh38: 14:58488761-58488761
23 KIAA0586 NM_001329943.3(KIAA0586):c.704_705del (p.Gln235fs) Deletion Pathogenic 204596 rs770566897 GRCh37: 14:58910790-58910791
GRCh38: 14:58444072-58444073
24 KIAA0586 NM_001329943.3(KIAA0586):c.*24del Deletion Pathogenic 1033793 GRCh37: 14:59014674-59014674
GRCh38: 14:58547956-58547956
25 KIAA0586 NM_001329943.3(KIAA0586):c.94dup (p.His32fs) Duplication Pathogenic 445497 rs555421894 GRCh37: 14:58895075-58895076
GRCh38: 14:58428357-58428358
26 KIAA0586 NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) Deletion Pathogenic 204593 rs534542684 GRCh37: 14:58899157-58899157
GRCh38: 14:58432439-58432439
27 KIAA0586 NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) Deletion Pathogenic/Likely pathogenic 204593 rs534542684 GRCh37: 14:58899157-58899157
GRCh38: 14:58432439-58432439
28 KIAA0586 NM_001329943.3(KIAA0586):c.94dup (p.His32fs) Duplication Pathogenic/Likely pathogenic 445497 rs555421894 GRCh37: 14:58895075-58895076
GRCh38: 14:58428357-58428358
29 KIAA0586 NM_001329943.3(KIAA0586):c.4027C>T (p.Gln1343Ter) SNV Likely pathogenic 620387 rs1566903524 GRCh37: 14:58965537-58965537
GRCh38: 14:58498819-58498819
30 KIAA0586 NM_001329943.3(KIAA0586):c.3781+2T>C SNV Likely pathogenic 573644 rs1331480187 GRCh37: 14:58955594-58955594
GRCh38: 14:58488876-58488876
31 KIAA0586 NM_001329943.3(KIAA0586):c.4032del (p.Arg1344fs) Deletion Likely pathogenic 266098 rs886039809 GRCh37: 14:58965542-58965542
GRCh38: 14:58498824-58498824
32 KIAA0586 NM_001329943.3(KIAA0586):c.2944+4A>C SNV Likely pathogenic 475446 rs372841738 GRCh37: 14:58943963-58943963
GRCh38: 14:58477245-58477245
33 KIAA0586 NC_000014.9:g.(?_58448320)_(58450766_?)dup Duplication Likely pathogenic 832765 GRCh37: 14:58915038-58917484
GRCh38:
34 KIAA0586 NM_001329943.3(KIAA0586):c.4076_4077CT[2] (p.Met1362fs) Microsatellite Likely pathogenic 435569 rs867342730 GRCh37: 14:58965585-58965586
GRCh38: 14:58498867-58498868
35 KIAA0586 NM_001329943.3(KIAA0586):c.2804T>A (p.Leu935Gln) SNV Uncertain significance 475445 rs537951340 GRCh37: 14:58941494-58941494
GRCh38: 14:58474776-58474776
36 KIAA0586 NM_001329943.3(KIAA0586):c.4160C>T (p.Thr1387Ile) SNV Uncertain significance 475452 rs376795880 GRCh37: 14:58965670-58965670
GRCh38: 14:58498952-58498952
37 KIAA0586 NM_001329943.3(KIAA0586):c.365A>G (p.Tyr122Cys) SNV Uncertain significance 542187 rs746136288 GRCh37: 14:58899130-58899130
GRCh38: 14:58432412-58432412
38 KIAA0586 NM_001329943.3(KIAA0586):c.3739G>A (p.Gly1247Arg) SNV Uncertain significance 642127 rs1595348112 GRCh37: 14:58955550-58955550
GRCh38: 14:58488832-58488832
39 KIAA0586 NM_001329943.3(KIAA0586):c.3980A>G (p.Tyr1327Cys) SNV Uncertain significance 650917 rs201929144 GRCh37: 14:58958983-58958983
GRCh38: 14:58492265-58492265
40 KIAA0586 NM_001329943.3(KIAA0586):c.1253+3A>G SNV Uncertain significance 652691 rs762698768 GRCh37: 14:58920194-58920194
GRCh38: 14:58453476-58453476
41 KIAA0586 NM_001329943.3(KIAA0586):c.3799C>G (p.Leu1267Val) SNV Uncertain significance 656922 rs1425457941 GRCh37: 14:58956899-58956899
GRCh38: 14:58490181-58490181
42 KIAA0586 NM_001329943.3(KIAA0586):c.1045G>A (p.Val349Ile) SNV Uncertain significance 475436 rs771000156 GRCh37: 14:58917380-58917380
GRCh38: 14:58450662-58450662
43 KIAA0586 NM_001244189.2(KIAA0586):c.5T>G (p.Phe2Cys) SNV Uncertain significance 840993 GRCh37: 14:58894351-58894351
GRCh38: 14:58427633-58427633
44 KIAA0586 NM_001329943.3(KIAA0586):c.3003C>A (p.Asn1001Lys) SNV Uncertain significance 542185 rs199537542 GRCh37: 14:58949289-58949289
GRCh38: 14:58482571-58482571
45 KIAA0586 NM_001329943.3(KIAA0586):c.4472C>T (p.Pro1491Leu) SNV Uncertain significance 542186 rs370303493 GRCh37: 14:59006831-59006831
GRCh38: 14:58540113-58540113
46 KIAA0586 NM_001329943.3(KIAA0586):c.1886G>A (p.Gly629Glu) SNV Uncertain significance 945734 GRCh37: 14:58927705-58927705
GRCh38: 14:58460987-58460987
47 KIAA0586 NM_001329943.3(KIAA0586):c.914T>C (p.Leu305Pro) SNV Uncertain significance 958351 GRCh37: 14:58915164-58915164
GRCh38: 14:58448446-58448446
48 KIAA0586 NM_001329943.3(KIAA0586):c.1080G>C (p.Arg360Ser) SNV Uncertain significance 432994 rs200094677 GRCh37: 14:58917415-58917415
GRCh38: 14:58450697-58450697
49 KIAA0586 NM_001329943.3(KIAA0586):c.3858+4A>G SNV Uncertain significance 942439 GRCh37: 14:58956962-58956962
GRCh38: 14:58490244-58490244
50 KIAA0586 NM_001329943.3(KIAA0586):c.1484A>G (p.Gln495Arg) SNV Uncertain significance 951504 GRCh37: 14:58924598-58924598
GRCh38: 14:58457880-58457880

UniProtKB/Swiss-Prot genetic disease variations for Joubert Syndrome 23:

72
# Symbol AA change Variation ID SNP ID
1 KIAA0586 p.Asp566Val VAR_074596

Expression for Joubert Syndrome 23

Search GEO for disease gene expression data for Joubert Syndrome 23.

Pathways for Joubert Syndrome 23

GO Terms for Joubert Syndrome 23

Cellular components related to Joubert Syndrome 23 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 centrosome GO:0005813 9.46 KIAA0586 CNTLN CEP97 CCP110
2 cytoskeleton GO:0005856 9.43 KIF24 KIAA0586 CNTLN CEP97 CCP110 CCDC120
3 centriole GO:0005814 9.02 KIF24 KIAA0586 CNTLN CCP110 CCDC120

Biological processes related to Joubert Syndrome 23 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 limb morphogenesis GO:0035108 9.26 ZNF141 IQCE
2 negative regulation of cilium assembly GO:1902018 9.16 CEP97 CCP110
3 ciliary basal body-plasma membrane docking GO:0097711 9.13 KIF24 CEP97 CCP110
4 cell projection organization GO:0030030 8.92 KIF24 KIAA0586 CEP97 CCP110

Sources for Joubert Syndrome 23

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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