MCID: JBR032
MIFTS: 35

Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy

Categories: Bone diseases, Eye diseases, Fetal diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy

MalaCards integrated aliases for Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy:

Name: Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy 58 6
Joubert Syndrome with Jatd 58
Jbts with Jatd 58

Characteristics:

Orphanet epidemiological data:

58
joubert syndrome with jeune asphyxiating thoracic dystrophy
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare respiratory diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy

MalaCards based summary : Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy, also known as joubert syndrome with jatd, is related to retinal ciliopathy and retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene. An important gene associated with Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy is KIAA0586 (KIAA0586). Affiliated tissues include eye, brain and lung, and related phenotypes are failure to thrive and frontal bossing

Related Diseases for Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy

Graphical network of the top 20 diseases related to Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy:



Diseases related to Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy

Symptoms & Phenotypes for Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy

Human phenotypes related to Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy:

58 31 (show top 50) (show all 73)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
2 frontal bossing 58 31 frequent (33%) Frequent (79-30%) HP:0002007
3 cerebellar hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0001321
4 tachypnea 58 31 frequent (33%) Frequent (79-30%) HP:0002789
5 molar tooth sign on mri 58 31 frequent (33%) Frequent (79-30%) HP:0002419
6 oculomotor apraxia 58 31 frequent (33%) Frequent (79-30%) HP:0000657
7 generalized hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001290
8 hyperechogenic kidneys 58 31 frequent (33%) Frequent (79-30%) HP:0004719
9 elongated superior cerebellar peduncle 58 31 frequent (33%) Frequent (79-30%) HP:0011933
10 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
11 depressed nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0005280
12 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
13 recurrent respiratory infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0002205
14 increased intracranial pressure 58 31 occasional (7.5%) Occasional (29-5%) HP:0002516
15 gastroesophageal reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0002020
16 renal insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0000083
17 absent speech 58 31 occasional (7.5%) Occasional (29-5%) HP:0001344
18 wide intermamillary distance 58 31 occasional (7.5%) Occasional (29-5%) HP:0006610
19 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
20 elevated hepatic transaminase 58 31 occasional (7.5%) Occasional (29-5%) HP:0002910
21 epicanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000286
22 myopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000545
23 meningocele 58 31 occasional (7.5%) Occasional (29-5%) HP:0002435
24 brachydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001156
25 overfolded helix 58 31 occasional (7.5%) Occasional (29-5%) HP:0000396
26 low-set, posteriorly rotated ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000368
27 dandy-walker malformation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001305
28 apnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002104
29 hypospadias 58 31 occasional (7.5%) Occasional (29-5%) HP:0000047
30 absent septum pellucidum 58 31 occasional (7.5%) Occasional (29-5%) HP:0001331
31 cone-shaped epiphysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0010579
32 feeding difficulties 58 31 occasional (7.5%) Occasional (29-5%) HP:0011968
33 supernumerary nipple 58 31 occasional (7.5%) Occasional (29-5%) HP:0002558
34 colpocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0030048
35 retinal dystrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000556
36 occipital encephalocele 58 31 occasional (7.5%) Occasional (29-5%) HP:0002085
37 thoracic hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0005257
38 visual loss 58 31 occasional (7.5%) Occasional (29-5%) HP:0000572
39 recurrent aspiration pneumonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002100
40 renal dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000110
41 bell-shaped thorax 58 31 occasional (7.5%) Occasional (29-5%) HP:0001591
42 redundant neck skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0005989
43 abnormality of the optic disc 58 31 occasional (7.5%) Occasional (29-5%) HP:0012795
44 duane anomaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0009921
45 dysgenesis of the cerebellar vermis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002195
46 abnormality of the basal ganglia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002134
47 abnormality of the acetabulum 58 31 occasional (7.5%) Occasional (29-5%) HP:0003170
48 abnormal corpus callosum morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001273
49 rhizomelic arm shortening 58 31 occasional (7.5%) Occasional (29-5%) HP:0004991
50 enlarged cisterna magna 58 31 occasional (7.5%) Occasional (29-5%) HP:0002280

Drugs & Therapeutics for Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy

Search Clinical Trials , NIH Clinical Center for Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy

Genetic Tests for Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy

Anatomical Context for Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy

MalaCards organs/tissues related to Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy:

40
Eye, Brain, Lung, Cerebellum, Heart

Publications for Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy

Articles related to Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy:

(show all 11)
# Title Authors PMID Year
1
Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome. 6
30120217 2019
2
Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies. 6
29068549 2018
3
Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center. 6
28125082 2017
4
Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center. 6
28497568 2017
5
Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes. 6
26386044 2015
6
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families. 6
26437029 2015
7
KIAA0586 is Mutated in Joubert Syndrome. 6
26096313 2015
8
TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23). 6
26386247 2015
9
Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome. 6
26166481 2015
10
Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome. 6
26026149 2015
11
[The use of mildronat in heart failure in patients with chronic ischemic heart disease]. 6
2609613 1989

Variations for Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy

ClinVar genetic disease variations for Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy:

6 (show top 50) (show all 106)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IFT140 NM_014714.4(IFT140):c.3454-488_4182+2588dup Duplication Pathogenic 523177 GRCh37: 16:1565628-1565629
GRCh38: 16:1515627-1515628
2 IFT140 NM_014714.4(IFT140):c.3454-1003_4040+737delinsC Indel Pathogenic 523185 GRCh37: 16:1569145-1571812
GRCh38: 16:1519144-1521811
3 KIAA0586 NC_000014.9:g.(?_58443934)_(58450766_?)del Deletion Pathogenic 583841 GRCh37: 14:58910652-58917484
GRCh38: 14:58443934-58450766
4 KIAA0586 NM_001329943.3(KIAA0586):c.194C>G (p.Ser65Ter) SNV Pathogenic 208812 rs797045119 GRCh37: 14:58895176-58895176
GRCh38: 14:58428458-58428458
5 KIAA0586 NM_001329943.3(KIAA0586):c.1656G>A (p.Gln552=) SNV Pathogenic 208813 rs762081862 GRCh37: 14:58925263-58925263
GRCh38: 14:58458545-58458545
6 KIAA0586 NM_001329943.3(KIAA0586):c.831C>T (p.Leu277=) SNV Pathogenic 475455 rs780520735 GRCh37: 14:58915081-58915081
GRCh38: 14:58448363-58448363
7 KIAA0586 NM_001329943.3(KIAA0586):c.2504_2508del (p.Leu835fs) Deletion Pathogenic 542183 rs1410766981 GRCh37: 14:58937392-58937396
GRCh38: 14:58470674-58470678
8 KIAA0586 NM_001329943.3(KIAA0586):c.38dup (p.Ile14fs) Duplication Pathogenic 575236 rs745949846 GRCh37: 14:58895012-58895013
GRCh38: 14:58428294-58428295
9 KIAA0586 NM_001329943.3(KIAA0586):c.1804C>T (p.Gln602Ter) SNV Pathogenic 565469 rs1566827747 GRCh37: 14:58926708-58926708
GRCh38: 14:58459990-58459990
10 KIAA0586 NM_001329943.3(KIAA0586):c.38dup (p.Ile14fs) Duplication Pathogenic 575236 rs745949846 GRCh37: 14:58895012-58895013
GRCh38: 14:58428294-58428295
11 KIAA0586 NM_001329943.3(KIAA0586):c.1708C>T (p.Gln570Ter) SNV Pathogenic 933557 GRCh37: 14:58926612-58926612
GRCh38: 14:58459894-58459894
12 KIAA0586 NM_001329943.3(KIAA0586):c.730G>T (p.Glu244Ter) SNV Pathogenic 940430 GRCh37: 14:58910816-58910816
GRCh38: 14:58444098-58444098
13 IFT140 , LOC105371046 NM_014714.4(IFT140):c.874G>A (p.Val292Met) SNV Pathogenic 97053 rs431905521 GRCh37: 16:1637962-1637962
GRCh38: 16:1587961-1587961
14 KIAA0586 NM_001329943.3(KIAA0586):c.1254-1G>C SNV Pathogenic 204594 rs757350052 GRCh37: 14:58923419-58923419
GRCh38: 14:58456701-58456701
15 KIAA0586 NM_001329943.3(KIAA0586):c.789dup (p.Gln264fs) Duplication Pathogenic 524064 rs1203751352 GRCh37: 14:58910873-58910874
GRCh38: 14:58444155-58444156
16 KIAA0586 NM_001329943.3(KIAA0586):c.2353C>T (p.Arg785Ter) SNV Pathogenic 418265 rs1064793157 GRCh37: 14:58934551-58934551
GRCh38: 14:58467833-58467833
17 KIAA0586 NM_001329943.3(KIAA0586):c.94dup (p.His32fs) Duplication Pathogenic 445497 rs555421894 GRCh37: 14:58895075-58895076
GRCh38: 14:58428357-58428358
18 KIAA0586 NM_001329943.3(KIAA0586):c.3144G>A (p.Pro1048=) SNV Pathogenic 217667 rs540255320 GRCh37: 14:58949430-58949430
GRCh38: 14:58482712-58482712
19 KIAA0586 NM_001329943.3(KIAA0586):c.3668C>G (p.Ser1223Ter) SNV Pathogenic 854917 GRCh37: 14:58955479-58955479
GRCh38: 14:58488761-58488761
20 IFT140 NM_014714.4(IFT140):c.3141+1G>T SNV Pathogenic 523180 rs764770536 GRCh37: 16:1574552-1574552
GRCh38: 16:1524551-1524551
21 KIAA0586 NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) Deletion Pathogenic/Likely pathogenic 204593 rs534542684 GRCh37: 14:58899157-58899157
GRCh38: 14:58432439-58432439
22 KIAA0586 NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) Deletion Likely pathogenic 204593 rs534542684 GRCh37: 14:58899157-58899157
GRCh38: 14:58432439-58432439
23 KIAA0586 NM_001329943.3(KIAA0586):c.4324-1G>A SNV Likely pathogenic 1031253 GRCh37: 14:58979239-58979239
GRCh38: 14:58512521-58512521
24 KIAA0586 NM_001329943.3(KIAA0586):c.4027C>T (p.Gln1343Ter) SNV Likely pathogenic 620387 rs1566903524 GRCh37: 14:58965537-58965537
GRCh38: 14:58498819-58498819
25 KIAA0586 NM_001329943.3(KIAA0586):c.3781+2T>C SNV Likely pathogenic 573644 rs1331480187 GRCh37: 14:58955594-58955594
GRCh38: 14:58488876-58488876
26 KIAA0586 NM_001329943.3(KIAA0586):c.2944+4A>C SNV Likely pathogenic 475446 rs372841738 GRCh37: 14:58943963-58943963
GRCh38: 14:58477245-58477245
27 KIAA0586 NC_000014.9:g.(?_58448320)_(58450766_?)dup Duplication Likely pathogenic 832765 GRCh37: 14:58915038-58917484
GRCh38:
28 KIAA0586 NM_001329943.3(KIAA0586):c.2804T>A (p.Leu935Gln) SNV Uncertain significance 475445 rs537951340 GRCh37: 14:58941494-58941494
GRCh38: 14:58474776-58474776
29 KIAA0586 NM_001329943.3(KIAA0586):c.3739G>A (p.Gly1247Arg) SNV Uncertain significance 642127 rs1595348112 GRCh37: 14:58955550-58955550
GRCh38: 14:58488832-58488832
30 KIAA0586 NM_001329943.3(KIAA0586):c.3980A>G (p.Tyr1327Cys) SNV Uncertain significance 650917 rs201929144 GRCh37: 14:58958983-58958983
GRCh38: 14:58492265-58492265
31 KIAA0586 NM_001329943.3(KIAA0586):c.1253+3A>G SNV Uncertain significance 652691 rs762698768 GRCh37: 14:58920194-58920194
GRCh38: 14:58453476-58453476
32 KIAA0586 NM_001329943.3(KIAA0586):c.3799C>G (p.Leu1267Val) SNV Uncertain significance 656922 rs1425457941 GRCh37: 14:58956899-58956899
GRCh38: 14:58490181-58490181
33 KIAA0586 NM_001329943.3(KIAA0586):c.4160C>T (p.Thr1387Ile) SNV Uncertain significance 475452 rs376795880 GRCh37: 14:58965670-58965670
GRCh38: 14:58498952-58498952
34 KIAA0586 NM_001329943.3(KIAA0586):c.365A>G (p.Tyr122Cys) SNV Uncertain significance 542187 rs746136288 GRCh37: 14:58899130-58899130
GRCh38: 14:58432412-58432412
35 KIAA0586 NM_001329943.3(KIAA0586):c.3858+4A>G SNV Uncertain significance 942439 GRCh37: 14:58956962-58956962
GRCh38: 14:58490244-58490244
36 KIAA0586 NM_001329943.3(KIAA0586):c.1484A>G (p.Gln495Arg) SNV Uncertain significance 951504 GRCh37: 14:58924598-58924598
GRCh38: 14:58457880-58457880
37 KIAA0586 NM_001329943.3(KIAA0586):c.768G>C (p.Arg256Ser) SNV Uncertain significance 951834 GRCh37: 14:58910854-58910854
GRCh38: 14:58444136-58444136
38 KIAA0586 NM_001329943.3(KIAA0586):c.1584A>G (p.Arg528=) SNV Uncertain significance 961724 GRCh37: 14:58925191-58925191
GRCh38: 14:58458473-58458473
39 KIAA0586 NM_001244189.2(KIAA0586):c.5T>G (p.Phe2Cys) SNV Uncertain significance 840993 GRCh37: 14:58894351-58894351
GRCh38: 14:58427633-58427633
40 KIAA0586 NM_001329943.3(KIAA0586):c.3003C>A (p.Asn1001Lys) SNV Uncertain significance 542185 rs199537542 GRCh37: 14:58949289-58949289
GRCh38: 14:58482571-58482571
41 KIAA0586 NM_001329943.3(KIAA0586):c.4472C>T (p.Pro1491Leu) SNV Uncertain significance 542186 rs370303493 GRCh37: 14:59006831-59006831
GRCh38: 14:58540113-58540113
42 KIAA0586 NM_001329943.3(KIAA0586):c.1886G>A (p.Gly629Glu) SNV Uncertain significance 945734 GRCh37: 14:58927705-58927705
GRCh38: 14:58460987-58460987
43 KIAA0586 NM_001329943.3(KIAA0586):c.914T>C (p.Leu305Pro) SNV Uncertain significance 958351 GRCh37: 14:58915164-58915164
GRCh38: 14:58448446-58448446
44 KIAA0586 NM_001329943.3(KIAA0586):c.484G>A (p.Val162Ile) SNV Uncertain significance 998645 GRCh37: 14:58909497-58909497
GRCh38: 14:58442779-58442779
45 KIAA0586 NM_001329943.3(KIAA0586):c.2903T>C (p.Val968Ala) SNV Uncertain significance 1000361 GRCh37: 14:58943918-58943918
GRCh38: 14:58477200-58477200
46 KIAA0586 NM_001329943.3(KIAA0586):c.2077A>G (p.Ile693Val) SNV Uncertain significance 1001629 GRCh37: 14:58932570-58932570
GRCh38: 14:58465852-58465852
47 KIAA0586 NM_001329943.3(KIAA0586):c.215C>T (p.Thr72Ile) SNV Uncertain significance 1004943 GRCh37: 14:58896096-58896096
GRCh38: 14:58429378-58429378
48 KIAA0586 NM_001329943.3(KIAA0586):c.4323+4C>T SNV Uncertain significance 1006249 GRCh37: 14:58975431-58975431
GRCh38: 14:58508713-58508713
49 KIAA0586 NM_001329943.3(KIAA0586):c.1522A>G (p.Ile508Val) SNV Uncertain significance 1009481 GRCh37: 14:58924636-58924636
GRCh38: 14:58457918-58457918
50 KIAA0586 NM_001329943.3(KIAA0586):c.4067T>C (p.Met1356Thr) SNV Uncertain significance 1011668 GRCh37: 14:58965577-58965577
GRCh38: 14:58498859-58498859

Expression for Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy

Search GEO for disease gene expression data for Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy.

Pathways for Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy

GO Terms for Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy

Cellular components related to Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.5 KIAA0586 IFT140 CSPP1
2 ciliary basal body GO:0036064 9.26 KIAA0586 IFT140
3 centriole GO:0005814 9.16 KIAA0586 IFT140
4 centrosome GO:0005813 9.13 KIAA0586 IFT140 CSPP1
5 microtubule organizing center GO:0005815 8.8 KIAA0586 IFT140 CSPP1

Biological processes related to Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 8.96 KIAA0586 IFT140
2 cell projection organization GO:0030030 8.62 KIAA0586 IFT140

Sources for Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy

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56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
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