MCID: JBR032
MIFTS: 27

Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy

Categories: Neuronal diseases, Respiratory diseases, Bone diseases, Fetal diseases, Rare 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 cleft lip/palate 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, skin and lung, and related phenotypes are oculomotor apraxia and generalized hypotonia

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 cleft lip/palate 8.9 IFT140 KIAA0586
2 asphyxiating thoracic dystrophy 8.6 CSPP1 IFT140 KIAA0586
3 joubert syndrome 1 8.5 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 73)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 oculomotor apraxia 59 32 frequent (33%) Frequent (79-30%) HP:0000657
2 generalized hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001290
3 cerebellar hypoplasia 59 32 frequent (33%) Frequent (79-30%) HP:0001321
4 failure to thrive 59 32 frequent (33%) Frequent (79-30%) HP:0001508
5 frontal bossing 59 32 frequent (33%) Frequent (79-30%) HP:0002007
6 molar tooth sign on mri 59 32 frequent (33%) Frequent (79-30%) HP:0002419
7 tachypnea 59 32 frequent (33%) Frequent (79-30%) HP:0002789
8 hyperechogenic kidneys 59 32 frequent (33%) Frequent (79-30%) HP:0004719
9 elongated superior cerebellar peduncle 59 32 frequent (33%) Frequent (79-30%) HP:0011933
10 hypospadias 59 32 occasional (7.5%) Occasional (29-5%) HP:0000047
11 renal insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0000083
12 renal dysplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000110
13 epicanthus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000286
14 hypertelorism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000316
15 micrognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000347
16 low-set, posteriorly rotated ears 59 32 occasional (7.5%) Occasional (29-5%) HP:0000368
17 overfolded helix 59 32 occasional (7.5%) Occasional (29-5%) HP:0000396
18 myopia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000545
19 retinal dystrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000556
20 visual loss 59 32 occasional (7.5%) Occasional (29-5%) HP:0000572
21 renal cortical cysts 59 32 occasional (7.5%) Occasional (29-5%) HP:0000803
22 long clavicles 59 32 occasional (7.5%) Occasional (29-5%) HP:0000890
23 brachydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001156
24 global developmental delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001263
25 abnormality of the corpus callosum 59 32 occasional (7.5%) Occasional (29-5%) HP:0001273
26 dandy-walker malformation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001305
27 absent septum pellucidum 59 32 occasional (7.5%) Occasional (29-5%) HP:0001331
28 absent speech 59 32 occasional (7.5%) Occasional (29-5%) HP:0001344
29 bell-shaped thorax 59 32 occasional (7.5%) Occasional (29-5%) HP:0001591
30 gastroesophageal reflux 59 32 occasional (7.5%) Occasional (29-5%) HP:0002020
31 occipital encephalocele 59 32 occasional (7.5%) Occasional (29-5%) HP:0002085
32 recurrent aspiration pneumonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002100
33 apnea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002104
34 abnormality of the basal ganglia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002134
35 dysgenesis of the cerebellar vermis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002195
36 recurrent respiratory infections 59 32 occasional (7.5%) Occasional (29-5%) HP:0002205
37 enlarged cisterna magna 59 32 occasional (7.5%) Occasional (29-5%) HP:0002280
38 meningocele 59 32 occasional (7.5%) Occasional (29-5%) HP:0002435
39 increased intracranial pressure 59 32 occasional (7.5%) Occasional (29-5%) HP:0002516
40 supernumerary nipple 59 32 occasional (7.5%) Occasional (29-5%) HP:0002558
41 elevated hepatic transaminases 59 32 occasional (7.5%) Occasional (29-5%) HP:0002910
42 abnormality of the acetabulum 59 32 occasional (7.5%) Occasional (29-5%) HP:0003170
43 proximal femoral metaphyseal irregularity 59 32 occasional (7.5%) Occasional (29-5%) HP:0003411
44 small cervical vertebral bodies 59 32 occasional (7.5%) Occasional (29-5%) HP:0004629
45 rhizomelic arm shortening 59 32 occasional (7.5%) Occasional (29-5%) HP:0004991
46 thoracic hypoplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0005257
47 depressed nasal bridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0005280
48 redundant neck skin 59 32 occasional (7.5%) Occasional (29-5%) HP:0005989
49 chronic lung disease 59 32 occasional (7.5%) Occasional (29-5%) HP:0006528
50 wide intermamillary distance 59 32 occasional (7.5%) Occasional (29-5%) HP:0006610

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, Skin, Lung, Cerebellum, Brain, Kidney

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:

6
# 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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