ATD
MCID: ASP005
MIFTS: 46

Asphyxiating Thoracic Dystrophy (ATD)

Categories: Bone diseases, Genetic diseases, Respiratory diseases

Aliases & Classifications for Asphyxiating Thoracic Dystrophy

MalaCards integrated aliases for Asphyxiating Thoracic Dystrophy:

Name: Asphyxiating Thoracic Dystrophy 12 25 37 15
Jeune Thoracic Dystrophy 25 29 6 73
Jeune Syndrome 12 25
Short-Rib Thoracic Dysplasia with or Without Polydactyly 12
Short-Rib Thoracic Dysplasia Without Polydactyly 6
Chondroectodermal Dysplasia-Like Syndrome 25
Asphyxiating Thoracic Chondrodystrophy 25
Thoracic-Pelvic-Phalangeal Dystrophy 25
Thoracic Pelvic Phalangeal Dystrophy 12
Asphyxiating Thoracic Dysplasia 25
Thoracic Asphyxiant Dystrophy 25
Infantile Thoracic Dystrophy 25
Jeune Thoracic Dysplasia 25
Atd 25

Classifications:



External Ids:

Disease Ontology 12 DOID:0050592
ICD10 33 Q77.2
KEGG 37 H00751
UMLS 73 C0265275

Summaries for Asphyxiating Thoracic Dystrophy

Genetics Home Reference : 25 Asphyxiating thoracic dystrophy, also known as Jeune syndrome, is an inherited disorder of bone growth characterized by a narrow chest, short ribs, shortened bones in the arms and legs, short stature, and extra fingers and toes (polydactyly). Additional skeletal abnormalities can include unusually shaped collarbones (clavicles) and pelvic bones, and and cone-shaped ends of the long bones in the arms and legs. Many infants with this condition are born with an extremely narrow, bell-shaped chest that can restrict the growth and expansion of the lungs. Life-threatening problems with breathing result, and people with asphyxiating thoracic dystrophy may live only into infancy or early childhood. However, in people who survive beyond the first few years, the narrow chest and related breathing problems can improve with age.

MalaCards based summary : Asphyxiating Thoracic Dystrophy, also known as jeune thoracic dystrophy, is related to joubert syndrome with jeune asphyxiating thoracic dystrophy and short-rib thoracic dysplasia 1 with or without polydactyly, and has symptoms including icterus An important gene associated with Asphyxiating Thoracic Dystrophy is IFT140 (Intraflagellar Transport 140), and among its related pathways/superpathways are Phagosome and Vasopressin-regulated water reabsorption. Affiliated tissues include bone, lung and liver, and related phenotypes are cellular and embryo

Disease Ontology : 12 An autosomal recessive disease characterized by skeletal abnormalities and resulting in difficulty in breathing caused by mutations that result in ciliopathy.

Wikipedia : 76 Asphyxiating thoracic dysplasia or Jeune syndrome is a ciliopathy.[citation needed]It is also known as... more...

Related Diseases for Asphyxiating Thoracic Dystrophy

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

(show top 50) (show all 53)
# Related Disease Score Top Affiliating Genes
1 joubert syndrome with jeune asphyxiating thoracic dystrophy 33.5 IFT140 KIAA0586
2 short-rib thoracic dysplasia 1 with or without polydactyly 32.2 ATD CEP120 DYNC2H1 DYNC2LI1 IFT140 IFT80
3 short-rib thoracic dysplasia 6 with or without polydactyly 32.0 DYNC2H1 IFT80 NEK1 TTC21B
4 short-rib thoracic dysplasia 3 with or without polydactyly 31.8 CEP120 DYNC2H1 DYNC2LI1 IFT80 NEK1 TCTEX1D2
5 short-rib thoracic dysplasia 12 31.7 IFT80 NEK1 TTC21B WDR19
6 cranioectodermal dysplasia 1 31.0 DYNC2H1 IFT140 IFT80 TTC21B WDR19 WDR35
7 joubert syndrome 1 30.0 CEP120 IFT140 KIAA0586 TTC21B
8 ellis-van creveld syndrome 29.0 DYNC2H1 DYNC2LI1 IFT80 NEK1 TCTEX1D2 TTC21B
9 polydactyly 28.7 DYNC2H1 DYNC2LI1 IFT81 KIAA0586 NEK1 TCTEX1D2
10 short-rib thoracic dysplasia 2 with or without polydactyly 12.5
11 short-rib thoracic dysplasia 4 with or without polydactyly 12.5
12 short-rib thoracic dysplasia 5 with or without polydactyly 12.5
13 jeune syndrome situs inversus 12.1
14 benallegue lacete syndrome 12.1
15 short-rib thoracic dysplasia 10 with or without polydactyly 11.8
16 short-rib thoracic dysplasia 7 with or without polydactyly 11.6
17 short-rib thoracic dysplasia 9 with or without polydactyly 11.5
18 short-rib thoracic dysplasia 8 with or without polydactyly 11.5
19 short-rib thoracic dysplasia 11 with or without polydactyly 11.5
20 short-rib thoracic dysplasia 14 with polydactyly 11.5
21 short-rib thoracic dysplasia 13 with or without polydactyly 11.4
22 short-rib thoracic dysplasia 15 with polydactyly 11.4
23 short-rib thoracic dysplasia 16 with or without polydactyly 11.4
24 short-rib thoracic dysplasia 17 with or without polydactyly 11.4
25 short-rib thoracic dysplasia 18 with polydactyly 11.4
26 short-rib thoracic dysplasia 19 with or without polydactyly 11.4
27 short-rib thoracic dysplasia 20 with polydactyly 11.4
28 perrault syndrome 1 11.1
29 thoracolaryngopelvic dysplasia 11.0
30 alpha-1-antitrypsin deficiency 10.3
31 graves' disease 10.3
32 granulocytopenia 10.3
33 osteochondrodysplasia 10.3
34 shwachman-diamond syndrome 1 10.2
35 hirschsprung disease 1 10.1
36 spondyloepiphyseal dysplasia with congenital joint dislocations 10.1
37 retinal aplasia 10.1
38 peroxisome biogenesis disorder 1a 10.1
39 hydrocephalus 10.1
40 rickets 10.1
41 respiratory failure 10.1
42 tuberous sclerosis 10.1
43 dandy-walker complex 10.1
44 cystinuria 10.1
45 situs inversus 10.1
46 head injury 10.1
47 polyhydramnios 10.0
48 senior-loken syndrome 1 10.0 IFT140 TTC21B WDR19
49 pulmonary hypertension 9.9
50 renal-hepatic-pancreatic dysplasia 9.9

Graphical network of the top 20 diseases related to Asphyxiating Thoracic Dystrophy:



Diseases related to Asphyxiating Thoracic Dystrophy

Symptoms & Phenotypes for Asphyxiating Thoracic Dystrophy

UMLS symptoms related to Asphyxiating Thoracic Dystrophy:


icterus

MGI Mouse Phenotypes related to Asphyxiating Thoracic Dystrophy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.06 CEP120 DYNC2H1 DYNC2LI1 IFT140 IFT80 KIAA0586
2 embryo MP:0005380 9.92 CEP120 DYNC2H1 DYNC2LI1 IFT140 KIAA0586 TTC21B
3 craniofacial MP:0005382 9.91 DYNC2H1 IFT140 IFT80 KIAA0586 NEK1 TTC21B
4 growth/size/body region MP:0005378 9.91 CEP120 DYNC2H1 DYNC2LI1 IFT140 IFT80 KIAA0586
5 limbs/digits/tail MP:0005371 9.76 DYNC2H1 DYNC2LI1 IFT140 IFT80 KIAA0586 TTC21B
6 nervous system MP:0003631 9.56 CEP120 DYNC2H1 DYNC2LI1 IFT140 KIAA0586 NEK1
7 skeleton MP:0005390 9.28 DYNC2H1 IFT140 IFT80 KIAA0586 NEK1 TCTEX1D2

Drugs & Therapeutics for Asphyxiating Thoracic Dystrophy

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Natural History of Asphyxiating Thoracic Dystrophy (DTJ) Completed NCT00948376

Search NIH Clinical Center for Asphyxiating Thoracic Dystrophy

Genetic Tests for Asphyxiating Thoracic Dystrophy

Genetic tests related to Asphyxiating Thoracic Dystrophy:

# Genetic test Affiliating Genes
1 Jeune Thoracic Dystrophy 29

Anatomical Context for Asphyxiating Thoracic Dystrophy

MalaCards organs/tissues related to Asphyxiating Thoracic Dystrophy:

41
Bone, Lung, Liver, Spinal Cord

Publications for Asphyxiating Thoracic Dystrophy

Articles related to Asphyxiating Thoracic Dystrophy:

(show top 50) (show all 84)
# Title Authors Year
1
Is Asphyxiating Thoracic Dystrophy (Jeune's Syndrome) Deadly and Should We Insist on Treating It? Reconstructive Surgery "On Demand". ( 28825014 )
2017
2
Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport. ( 27021811 )
2016
3
New mutations in DYNC2H1 and WDR60 genes revealed by whole-exome sequencing in two unrelated Sardinian families with Jeune asphyxiating thoracic dystrophy. ( 26874042 )
2016
4
TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport. ( 26044572 )
2015
5
Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy. ( 24360808 )
2014
6
One-stage sequential bilateral thoracic expansion for asphyxiating thoracic dystrophy (Jeune syndrome). ( 24599166 )
2014
7
A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies. ( 25361962 )
2014
8
Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. ( 24183451 )
2013
9
Prenatal ultrasound and MRI Diagnosis of Jeune syndrome type I (asphyxiating thoracic dystrophy) with histology and post-mortem three-dimensional CT confirmation. ( 22594482 )
2013
10
Jeune syndrome: considerations for management of asphyxiating thoracic dystrophy. ( 23985472 )
2013
11
Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome. ( 23315050 )
2013
12
Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement. ( 23456818 )
2013
13
Shwachman-Diamond syndrome: a complex case demonstrating the potential for misdiagnosis as asphyxiating thoracic dystrophy (Jeune syndrome). ( 22554078 )
2012
14
Case report: anesthesia in patients with asphyxiating thoracic dystrophy: Jeune syndrome. ( 22656687 )
2012
15
Lateral thoracic expansion in a preterm baby with asphyxiating thoracic dystrophy. ( 21243577 )
2011
16
Clinical insights gained from eight new cases and review of reported cases with Jeune syndrome (asphyxiating thoracic dystrophy). ( 21465651 )
2011
17
The Nuss technique for Jeune asphyxiating thoracic dystrophy repair in siblings. ( 20606585 )
2010
18
Co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy. ( 20503315 )
2010
19
The intraflagellar transport protein ift80 is essential for photoreceptor survival in a zebrafish model of jeune asphyxiating thoracic dystrophy. ( 20207966 )
2010
20
DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. ( 19442771 )
2009
21
Clinical variability of asphyxiating thoracic dystrophy (Jeune) syndrome: Evaluation and classification of 13 patients. ( 19610081 )
2009
22
Jeune's syndrome (asphyxiating thoracic dystrophy): congenital and acquired. ( 18582822 )
2008
23
[Jeune'disease (asphyxiating thoracic dystrophy) and respiratory failure: importance of early respiratory management with periodic hyperinsufflation]. ( 18447062 )
2007
24
IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy. ( 17468754 )
2007
25
The prenatal detection of Jeune syndrome (asphyxiating thoracic dystrophy). Case report. ( 19292094 )
2006
26
Asphyxiating thoracic dystrophy with facial dysmorphism. ( 17202643 )
2006
27
Further experience with the operative management of asphyxiating thoracic dystrophy after pectus repair. ( 15868580 )
2005
28
Jeune thoracic dystrophy with right sided diaphragmatic hernia. ( 15812132 )
2005
29
Hepatic manifestations of Jeune syndrome (asphyxiating thoracic dystrophy). ( 12800072 )
2003
30
Asphyxiating thoracic dystrophy and syndactyly of the toes in a newborn: coincidence or a new association? ( 12725597 )
2003
31
A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13. ( 12807964 )
2003
32
Long-term follow-up of asphyxiating thoracic dystrophy: results of first report of thoracoplasty. ( 12643436 )
2002
33
Dynamic thoracoplasty for asphyxiating thoracic dystrophy. ( 11722089 )
2001
34
Dandy-Walker complex in a child with Jeune's asphyxiating thoracic dystrophy. ( 10876833 )
2000
35
Jeune asphyxiating thoracic dystrophy and short-rib polydactyly type III (Verma-Naumoff) are variants of the same disorder. ( 10710229 )
2000
36
Exclusion of the Ellis-van Creveld region on chromosome 4p16 in some families with asphyxiating thoracic dystrophy and short-rib polydactyly syndromes. ( 10951528 )
2000
37
Homologous bone graft for expansion thoracoplasty in Jeune's asphyxiating thoracic dystrophy. ( 10211668 )
1999
38
Prenatal sonographic findings associated with asphyxiating thoracic dystrophy (Jeune syndrome). ( 10447085 )
1999
39
Jeune syndrome (asphyxiating thoracic dystrophy) associated with Hirschsprung disease. ( 10532174 )
1999
40
Jeune's asphyxiating thoracic dystrophy of the newborn. ( 9617610 )
1998
41
Operative management of asphyxiating thoracic dystrophy after pectus repair. ( 9498398 )
1998
42
Chest reconstruction in asphyxiating thoracic dystrophy. ( 9802821 )
1998
43
ASPHYXIATING THORACIC DYSTROPHY. ( 28775457 )
1998
44
Asphyxiating thoracic dystrophy. ( 8613294 )
1995
45
Del(12)(p11.21p12.2) associated with an asphyxiating thoracic dystrophy or chondroectodermal dysplasia-like syndrome. ( 7702088 )
1995
46
Asphyxiating thoracic dystrophy (Jeune's disease): a case report. ( 8055771 )
1994
47
Asphyxiating thoracic dystrophy: surgical correction and 2-year follow-up in a girl. ( 8086645 )
1994
48
A case of Jeune syndrome (asphyxiating thoracic dystrophy). ( 17586875 )
1994
49
Asphyxiating thoracic dystrophy without respiratory disease. ( 8210547 )
1993
50
Shwachman's syndrome: unusual presentation as congenital rickets and asphyxiating thoracic dystrophy. ( 1849310 )
1991

Variations for Asphyxiating Thoracic Dystrophy

ClinVar genetic disease variations for Asphyxiating Thoracic Dystrophy:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 IFT140 NM_014714.3(IFT140): c.1565G> A (p.Gly522Glu) single nucleotide variant Pathogenic rs199826737 GRCh37 Chromosome 16, 1621495: 1621495
2 IFT140 NM_014714.3(IFT140): c.1565G> A (p.Gly522Glu) single nucleotide variant Pathogenic rs199826737 GRCh38 Chromosome 16, 1571494: 1571494
3 IFT140 NM_014714.3(IFT140): c.1380delC (p.Asn460Lysfs) deletion Pathogenic rs431905522 GRCh37 Chromosome 16, 1633367: 1633367
4 IFT140 NM_014714.3(IFT140): c.1380delC (p.Asn460Lysfs) deletion Pathogenic rs431905522 GRCh38 Chromosome 16, 1583366: 1583366

Expression for Asphyxiating Thoracic Dystrophy

Search GEO for disease gene expression data for Asphyxiating Thoracic Dystrophy.

Pathways for Asphyxiating Thoracic Dystrophy

Pathways related to Asphyxiating Thoracic Dystrophy according to KEGG:

37
# Name Kegg Source Accession
1 Phagosome hsa04145
2 Vasopressin-regulated water reabsorption hsa04962

Pathways related to Asphyxiating Thoracic Dystrophy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.42 DYNC2H1 DYNC2LI1 IFT140 IFT80 IFT81 TCTEX1D2
2
Show member pathways
12.09 DYNC2H1 IFT140 TTC21B WDR19 WDR35
3 10.98 DYNC2H1 DYNC2LI1 IFT140 IFT80 IFT81 TCTEX1D2
4 10.9 DYNC2H1 DYNC2LI1

GO Terms for Asphyxiating Thoracic Dystrophy

Cellular components related to Asphyxiating Thoracic Dystrophy according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 microtubule organizing center GO:0005815 9.97 CEP120 DYNC2LI1 IFT140 KIAA0586 NEK1 WDR35
2 ciliary basal body GO:0036064 9.93 DYNC2LI1 IFT140 IFT81 KIAA0586 WDR34 WDR35
3 axoneme GO:0005930 9.91 DYNC2H1 DYNC2LI1 IFT140 TCTEX1D2 WDR34 WDR35
4 centrosome GO:0005813 9.85 CEP120 DYNC2LI1 IFT140 IFT80 IFT81 KIAA0586
5 motile cilium GO:0031514 9.81 DYNC2H1 DYNC2LI1 IFT81 WDR19
6 dynein complex GO:0030286 9.78 DYNC2H1 DYNC2LI1 WDR34 WDR60
7 cytoplasmic dynein complex GO:0005868 9.72 DYNC2H1 DYNC2LI1 TCTEX1D2 WDR34 WDR60
8 centriole GO:0005814 9.71 CEP120 KIAA0586 WDR34
9 intraciliary transport particle A GO:0030991 9.71 IFT140 TTC21B WDR19 WDR35
10 cilium GO:0005929 9.65 DYNC2H1 DYNC2LI1 IFT140 IFT80 IFT81 TTC21B
11 photoreceptor connecting cilium GO:0032391 9.58 IFT140 WDR19
12 ciliary base GO:0097546 9.58 TCTEX1D2 WDR60
13 non-motile cilium GO:0097730 9.57 IFT140 WDR19
14 intraciliary transport particle B GO:0030992 9.56 IFT80 IFT81
15 pericentriolar material GO:0000242 9.55 NEK1 WDR60
16 interphase microtubule organizing center GO:0031021 9.52 TCTEX1D2 WDR60
17 ciliary tip GO:0097542 9.32 DYNC2H1 DYNC2LI1 IFT140 IFT80 IFT81 TTC21B
18 cytoskeleton GO:0005856 10.11 CEP120 DYNC2H1 DYNC2LI1 IFT140 IFT80 KIAA0586
19 cell projection GO:0042995 10 DYNC2H1 DYNC2LI1 IFT140 IFT80 IFT81 KIAA0586

Biological processes related to Asphyxiating Thoracic Dystrophy according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 9.93 DYNC2H1 DYNC2LI1 IFT140 IFT80 IFT81 KIAA0586
2 cell projection organization GO:0030030 9.91 DYNC2H1 DYNC2LI1 IFT140 IFT81 KIAA0586 NEK1
3 microtubule-based movement GO:0007018 9.67 DYNC2H1 WDR34 WDR60
4 smoothened signaling pathway GO:0007224 9.67 IFT80 KIAA0586 TTC21B WDR19
5 determination of left/right symmetry GO:0007368 9.65 DYNC2H1 DYNC2LI1 IFT140
6 intraciliary transport involved in cilium assembly GO:0035735 9.65 DYNC2H1 DYNC2LI1 IFT140 IFT80 IFT81 TTC21B
7 non-motile cilium assembly GO:1905515 9.63 DYNC2H1 IFT140 IFT80
8 protein localization to cilium GO:0061512 9.62 DYNC2H1 IFT140 TTC21B WDR35
9 regulation of cilium assembly GO:1902017 9.61 DYNC2LI1 IFT140 TCTEX1D2
10 regulation of smoothened signaling pathway GO:0008589 9.58 IFT140 IFT81 TTC21B
11 embryonic limb morphogenesis GO:0030326 9.56 DYNC2H1 WDR19
12 embryonic cranial skeleton morphogenesis GO:0048701 9.55 IFT140 WDR19
13 positive regulation of smoothened signaling pathway GO:0045880 9.54 DYNC2H1 IFT80
14 intraciliary transport GO:0042073 9.52 IFT140 IFT81
15 embryonic camera-type eye development GO:0031076 9.51 IFT140 WDR19
16 intraciliary retrograde transport GO:0035721 9.1 DYNC2H1 DYNC2LI1 IFT140 TTC21B WDR19 WDR35

Molecular functions related to Asphyxiating Thoracic Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 dynein intermediate chain binding GO:0045505 9.32 DYNC2H1 TCTEX1D2
2 ATP-dependent microtubule motor activity, plus-end-directed GO:0008574 9.26 WDR34 WDR60
3 ATP-dependent microtubule motor activity, minus-end-directed GO:0008569 9.16 DYNC2H1 DYNC2LI1
4 dynein light chain binding GO:0045503 9.13 DYNC2H1 WDR34 WDR60
5 dynein heavy chain binding GO:0045504 8.8 DYNC2LI1 WDR34 WDR60

Sources for Asphyxiating Thoracic Dystrophy

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 ExPASy
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62 PubMed
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