MCID: JBR032
MIFTS: 28

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

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 retinitis pigmentosa 80 and asphyxiating thoracic dystrophy. An important gene associated with Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy is IFT140 (Intraflagellar Transport 140). Affiliated tissues include bone, lung and skin, and related phenotypes are hypertelorism and frontal bossing

Related Diseases for Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy

Diseases related to Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 80 9.9 IFT140 LOC105371046
2 asphyxiating thoracic dystrophy 9.8 IFT140 KIAA0586
3 cleft lip/palate 9.7 IFT140 KIAA0586
4 joubert syndrome 1 9.6 CSPP1 IFT140 KIAA0586

Symptoms & Phenotypes for Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy

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

59 32 (show top 50) (show all 75)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000316
2 frontal bossing 59 32 frequent (33%) Frequent (79-30%) HP:0002007
3 failure to thrive 59 32 frequent (33%) Frequent (79-30%) HP:0001508
4 global developmental delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001263
5 recurrent respiratory infections 59 32 occasional (7.5%) Occasional (29-5%) HP:0002205
6 increased intracranial pressure 59 32 occasional (7.5%) Occasional (29-5%) HP:0002516
7 depressed nasal bridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0005280
8 gastroesophageal reflux 59 32 occasional (7.5%) Occasional (29-5%) HP:0002020
9 renal insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0000083
10 micrognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000347
11 feeding difficulties 59 32 occasional (7.5%) Occasional (29-5%) HP:0011968
12 cone-shaped epiphysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0010579
13 epicanthus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000286
14 absent speech 59 32 occasional (7.5%) Occasional (29-5%) HP:0001344
15 wide intermamillary distance 59 32 occasional (7.5%) Occasional (29-5%) HP:0006610
16 myopia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000545
17 apnea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002104
18 cerebellar hypoplasia 59 32 frequent (33%) Frequent (79-30%) HP:0001321
19 hypospadias 59 32 occasional (7.5%) Occasional (29-5%) HP:0000047
20 visual loss 59 32 occasional (7.5%) Occasional (29-5%) HP:0000572
21 low-set, posteriorly rotated ears 59 32 occasional (7.5%) Occasional (29-5%) HP:0000368
22 meningocele 59 32 occasional (7.5%) Occasional (29-5%) HP:0002435
23 brachydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001156
24 overfolded helix 59 32 occasional (7.5%) Occasional (29-5%) HP:0000396
25 absent septum pellucidum 59 32 occasional (7.5%) Occasional (29-5%) HP:0001331
26 dandy-walker malformation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001305
27 generalized hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001290
28 oculomotor apraxia 59 32 frequent (33%) Frequent (79-30%) HP:0000657
29 dysgenesis of the cerebellar vermis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002195
30 supernumerary nipple 59 32 occasional (7.5%) Occasional (29-5%) HP:0002558
31 proximal femoral metaphyseal irregularity 59 32 occasional (7.5%) Occasional (29-5%) HP:0003411
32 thoracic hypoplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0005257
33 tachypnea 59 32 frequent (33%) Frequent (79-30%) HP:0002789
34 retinal dystrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000556
35 molar tooth sign on mri 59 32 frequent (33%) Frequent (79-30%) HP:0002419
36 occipital encephalocele 59 32 occasional (7.5%) Occasional (29-5%) HP:0002085
37 bell-shaped thorax 59 32 occasional (7.5%) Occasional (29-5%) HP:0001591
38 renal dysplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000110
39 abnormality of the acetabulum 59 32 occasional (7.5%) Occasional (29-5%) HP:0003170
40 redundant neck skin 59 32 occasional (7.5%) Occasional (29-5%) HP:0005989
41 abnormality of the basal ganglia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002134
42 colpocephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0030048
43 long clavicles 59 32 occasional (7.5%) Occasional (29-5%) HP:0000890
44 abnormality of the optic disc 59 32 occasional (7.5%) Occasional (29-5%) HP:0012795
45 duane anomaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0009921
46 chronic lung disease 59 32 occasional (7.5%) Occasional (29-5%) HP:0006528
47 dilation of lateral ventricles 59 32 occasional (7.5%) Occasional (29-5%) HP:0006956
48 dilated third ventricle 59 32 occasional (7.5%) Occasional (29-5%) HP:0007082
49 rhizomelic leg shortening 59 32 occasional (7.5%) Occasional (29-5%) HP:0012106
50 hyperechogenic kidneys 59 32 frequent (33%) Frequent (79-30%) HP:0004719

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:

41
Bone, Lung, Skin, Brain, Kidney, Eye, Cerebellum

Publications for Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy

Variations for Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy

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

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# Gene Variation Type Significance SNP ID Assembly Location
1 IFT140 NM_014714.3(IFT140): c.874G> A (p.Val292Met) single nucleotide variant Pathogenic rs431905521 GRCh37 Chromosome 16, 1637962: 1637962
2 IFT140 NM_014714.3(IFT140): c.874G> A (p.Val292Met) single nucleotide variant Pathogenic rs431905521 GRCh38 Chromosome 16, 1587961: 1587961
3 IFT140 NM_014714.3(IFT140): c.3454-488_4182+2588dup duplication Pathogenic GRCh37 Chromosome 16, 1565629: 1571297
4 IFT140 NM_014714.3(IFT140): c.3454-488_4182+2588dup duplication Pathogenic GRCh38 Chromosome 16, 1515628: 1521296
5 IFT140 NM_014714.3(IFT140): c.3454-1005_4040+737delinsCCC indel Pathogenic GRCh37 Chromosome 16, 1569145: 1571814
6 IFT140 NM_014714.3(IFT140): c.3454-1005_4040+737delinsCCC indel Pathogenic GRCh38 Chromosome 16, 1519144: 1521813
7 IFT140 NM_014714.3(IFT140): c.3141+1G> T single nucleotide variant Pathogenic rs764770536 GRCh37 Chromosome 16, 1574552: 1574552
8 IFT140 NM_014714.3(IFT140): c.3141+1G> T single nucleotide variant Pathogenic rs764770536 GRCh38 Chromosome 16, 1524551: 1524551

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 9.43 CSPP1 IFT140 KIAA0586
2 ciliary basal body GO:0036064 9.16 IFT140 KIAA0586
3 centrosome GO:0005813 9.13 CSPP1 IFT140 KIAA0586
4 microtubule organizing center GO:0005815 8.8 CSPP1 IFT140 KIAA0586

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 IFT140 KIAA0586
2 cell projection organization GO:0030030 8.62 IFT140 KIAA0586

Sources for Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy

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