ATD
MCID: ASP005
MIFTS: 47

Asphyxiating Thoracic Dystrophy (ATD)

Categories: Bone diseases

Aliases & Classifications for Asphyxiating Thoracic Dystrophy

MalaCards integrated aliases for Asphyxiating Thoracic Dystrophy:

Name: Asphyxiating Thoracic Dystrophy 12 43 36 15
Jeune Thoracic Dystrophy 43 29 6 70
Jeune Syndrome 12 43
Short-Rib Thoracic Dysplasia with or Without Polydactyly 12
Dysplasia, Short-Rib Thoracic, with/without Polydactyly 39
Short-Rib Thoracic Dysplasia Without Polydactyly 6
Chondroectodermal Dysplasia-Like Syndrome 43
Asphyxiating Thoracic Chondrodystrophy 43
Thoracic-Pelvic-Phalangeal Dystrophy 43
Thoracic Pelvic Phalangeal Dystrophy 12
Asphyxiating Thoracic Dysplasia 43
Thoracic Asphyxiant Dystrophy 43
Infantile Thoracic Dystrophy 43
Jeune Thoracic Dysplasia 43
Atd 43

Classifications:



External Ids:

Disease Ontology 12 DOID:0050592
KEGG 36 H00751
ICD10 32 Q77.2
UMLS 70 C0265275

Summaries for Asphyxiating Thoracic Dystrophy

MedlinePlus Genetics : 43 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.Some people with asphyxiating thoracic dystrophy are born with less severe skeletal abnormalities and have only mild breathing difficulties, such as rapid breathing or shortness of breath. These individuals may live into adolescence or adulthood. After infancy, people with this condition may develop life-threatening kidney (renal) abnormalities that cause the kidneys to malfunction or fail. Heart defects and a narrowing of the airway (subglottic stenosis) are also possible. Other, less common features of asphyxiating thoracic dystrophy include liver disease, fluid-filled sacs (cysts) in the pancreas, dental abnormalities, and an eye disease called retinal dystrophy that can lead to vision loss.

MalaCards based summary : Asphyxiating Thoracic Dystrophy, also known as jeune thoracic dystrophy, is related to short-rib thoracic dysplasia 2 with or without polydactyly and short-rib thoracic dysplasia 4 with or without polydactyly, and has symptoms including icterus An important gene associated with Asphyxiating Thoracic Dystrophy is IFT80 (Intraflagellar Transport 80), and among its related pathways/superpathways are Phagosome and Vasopressin-regulated water reabsorption. Affiliated tissues include pancreas, eye and kidney, and related phenotypes are cellular and growth/size/body region

Disease Ontology : 12 A bone development disease characterized by skeletal abnormalities and resulting in difficulty in breathing caused by mutations that result in ciliopathy.

KEGG : 36 Asphyxiating thoracic dystrophy (ATD), also known as Jeune syndrome, is a rare osteochondrodysplasia with characteristic skeletal abnormalities as well as the involvement of kidneys, liver, pancreas and eyes. Patients have proximal cervical stenosis and severe respiratory insufficiency due to the skeletal abnormalities such as narrow thorax and short ribs.

Wikipedia : 73 Asphyxiating thoracic dysplasia (ATD), also known as Jeune syndrome, is a rare inherited bone growth... 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 166)
# Related Disease Score Top Affiliating Genes
1 short-rib thoracic dysplasia 2 with or without polydactyly 33.8 WDR19 TTC21B TRIM59-IFT80 IFT80 DYNC2H1
2 short-rib thoracic dysplasia 4 with or without polydactyly 33.8 WDR35 WDR19 TTC21B-AS1 TTC21B IFT140 DYNC2I1
3 short-rib thoracic dysplasia 5 with or without polydactyly 33.7 WDR35 WDR19 IFT140
4 short-rib thoracic dysplasia 3 with or without polydactyly 33.6 WDR35 WDR19 TTC21B TRAF3IP1 KIAA0586 IFT81
5 short-rib thoracic dysplasia 1 with or without polydactyly 33.5 WDR35 WDR19 TTC21B-AS1 TTC21B TRIM59-IFT80 TRAF3IP1
6 short-rib thoracic dysplasia 7 with or without polydactyly 33.1 WDR35 WDR19 TTC21B IFT140 DYNC2I1
7 short-rib thoracic dysplasia 11 with or without polydactyly 33.0 DYNC2I2 DYNC2I1 DYNC2H1
8 short-rib thoracic dysplasia 8 with or without polydactyly 33.0 DYNC2I2 DYNC2I1 DYNC2H1
9 short-rib thoracic dysplasia 9 with or without polydactyly 33.0 WDR35 WDR19 TTC21B LOC105371046 IFT140
10 short-rib thoracic dysplasia 6 with or without polydactyly 33.0 WDR35 WDR19 TTC21B TRIM59-IFT80 TRAF3IP1 KIAA0586
11 joubert syndrome with jeune asphyxiating thoracic dystrophy 32.9 LOC105371046 KIAA0586 IFT140
12 short-rib thoracic dysplasia 12 32.6 WDR35 WDR19 TTC21B TRIM59-IFT80 TRAF3IP1 KIAA0586
13 osteochondrodysplasia 31.7 WDR35 WDR19 LBR IFT80 EVC2 DYNC2H1
14 polydactyly 31.7 WDR35 WDR19 TTC21B KIAA0586 IFT81 IFT80
15 joubert syndrome 1 31.3 WDR35 WDR19 TTC21B TRAF3IP1 KIAA0753 KIAA0586
16 ciliopathy 31.3 TTC21B LOC105371046 KIAA0586 IFT81 IFT140
17 ellis-van creveld syndrome 31.2 WDR35 WDR19 TTC21B TRAF3IP1 KIAA0586 IFT81
18 short rib-polydactyly syndrome 31.1 WDR35 IFT81 DYNC2H1
19 nephronophthisis 30.9 WDR35 WDR19 TTC21B-AS1 TTC21B TRAF3IP1 LOC105371046
20 cranioectodermal dysplasia 30.9 WDR35 WDR19 TTC21B TRAF3IP1 KIAA0586 IFT80
21 bardet-biedl syndrome 30.8 WDR35 WDR19 TTC21B TRAF3IP1 IFT81 IFT80
22 retinal aplasia 30.8 TTC21B-AS1 TTC21B
23 fundus dystrophy 30.8 WDR35 WDR19 TTC21B-AS1 TTC21B LOC105371046 KIAA0753
24 retinitis pigmentosa 30.8 WDR35 WDR19 TTC21B TRAF3IP1 LOC105371046 KIAA0586
25 benallegue lacete syndrome 11.6
26 short-rib thoracic dysplasia 10 with or without polydactyly 11.5
27 short-rib thoracic dysplasia 14 with polydactyly 11.5
28 short-rib thoracic dysplasia 18 with polydactyly 11.5
29 short-rib thoracic dysplasia 19 with or without polydactyly 11.5
30 short-rib thoracic dysplasia 17 with or without polydactyly 11.4
31 short-rib thoracic dysplasia 13 with or without polydactyly 11.4
32 short-rib thoracic dysplasia 15 with polydactyly 11.4
33 short-rib thoracic dysplasia 16 with or without polydactyly 11.4
34 short-rib thoracic dysplasia 20 with polydactyly 11.4
35 jeune syndrome situs inversus 11.2
36 thoracolaryngopelvic dysplasia 10.9
37 acrofacial dysostosis 10.6 WDR35 IFT80 EVC2
38 polycystic kidney disease 4 with or without polycystic liver disease 10.6 WDR19 TTC21B IFT80 IFT140 DYNC2H1
39 weyers acrofacial dysostosis 10.6 WDR35 WDR19 TTC21B KIAA0586 IFT81 IFT80
40 cleft lip/palate 10.6 WDR35 IFT140 DYNC2I2 DYNC2I1 DYNC2H1
41 senior-loken syndrome 1 10.5 WDR19 TTC21B-AS1 TTC21B TRAF3IP1 IFT80 IFT140
42 cranioectodermal dysplasia 1 10.5 WDR35 WDR19 IFT140
43 nephronophthisis 12 10.5 WDR19 TTC21B-AS1 TTC21B
44 juvenile nephronophthisis 10.5 WDR19 TTC21B-AS1 TTC21B LOC105371046 IFT140
45 primary ciliary dyskinesia 10.5 WDR35 WDR19 TTC21B TRAF3IP1 KIAA0586 IFT81
46 joubert syndrome 4 10.5 TTC21B KIAA0586 IFT80
47 autosomal recessive disease 10.5
48 joubert syndrome 17 10.5 WDR35 IFT74 IFT140
49 meckel syndrome, type 1 10.5 WDR19 TTC21B TRAF3IP1 KIAA0586 IFT81 IFT80
50 retinal ciliopathy 10.5 LOC105371046 IFT140

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 10.17 DYNC2H1 DYNC2I2 EVC2 IFT140 IFT80 KIAA0586
2 growth/size/body region MP:0005378 10.13 DYNC2H1 DYNC2I1 DYNC2I2 EVC2 FLVCR1 IFT140
3 craniofacial MP:0005382 10.1 DYNC2H1 EVC2 FLVCR1 IFT140 IFT80 KIAA0586
4 embryo MP:0005380 10.07 DYNC2H1 DYNC2I1 DYNC2I2 IFT140 KIAA0586 KIAA0753
5 limbs/digits/tail MP:0005371 10.03 DYNC2H1 DYNC2I2 EVC2 FLVCR1 IFT140 IFT80
6 mortality/aging MP:0010768 10.03 DYNC2H1 DYNC2I1 DYNC2I2 EVC2 FLVCR1 IFT140
7 skeleton MP:0005390 9.7 DYNC2H1 EVC2 FLVCR1 IFT140 IFT80 IFT81
8 vision/eye MP:0005391 9.23 DYNC2H1 DYNC2I2 IFT140 IFT80 IFT81 LBR

Drugs & Therapeutics for Asphyxiating Thoracic Dystrophy

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Clinical and Molecular Study, 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:

40
Pancreas, Eye, Kidney, Liver, Heart, Bone, Retina

Publications for Asphyxiating Thoracic Dystrophy

Articles related to Asphyxiating Thoracic Dystrophy:

(show top 50) (show all 194)
# Title Authors PMID Year
1
Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies. 61 6
29068549 2018
2
Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino-Noonan type. 6 61
27925158 2017
3
Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome. 6 61
27666822 2016
4
Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement. 6 61
23456818 2013
5
Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease. 61 6
23418020 2013
6
An Ift80 mouse model of short rib polydactyly syndromes shows defects in hedgehog signalling without loss or malformation of cilia. 6 61
21227999 2011
7
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. 61 6
21258341 2011
8
DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. 6 61
19442771 2009
9
Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder. 6
30266093 2018
10
Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies. 6
29138412 2017
11
Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy. 6
27491411 2016
12
Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies. 6
25492405 2015
13
A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS. 6
24876116 2014
14
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. 6
23559409 2013
15
Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families. 6
23339108 2013
16
NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases. 6
22499340 2012
17
Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum. 6
19648123 2011
18
Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. 6
21068128 2011
19
THM1 negatively modulates mouse sonic hedgehog signal transduction and affects retrograde intraflagellar transport in cilia. 6
18327258 2008
20
A novel heterotaxy gene: Expansion of the phenotype of TTC21B-spectrum disease. 61
33547761 2021
21
Overlapping holoprosencephaly-polydactyl syndrome and asphyxiating thoracic dystrophy, an incidental finding in late prenatal ultrasound: A rare case report. 61
33768892 2021
22
First Report of Spinal Anesthesia for Cesarean Delivery in a Parturient With Jeune Syndrome: A Case Report. 61
33577174 2021
23
Biallelic loss of function variant in the unfolded protein response gene PDIA6 is associated with asphyxiating thoracic dystrophy and neonatal-onset diabetes. 61
33495992 2021
24
DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration. 61
32753734 2020
25
Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling. 61
33200460 2020
26
Intraflagellar Transport 80 Is Required for Cilia Construction and Maintenance in Paramecium tetraurelia. 61
32369644 2020
27
A new case of KIAA0753-related variant of Jeune asphyxiating thoracic dystrophy. 61
31816441 2020
28
Down-regulated WDR35 contributes to fetal anomaly via regulation of osteogenic differentiation. 61
30790652 2019
29
CEP120 interacts with C2CD3 and Talpid3 and is required for centriole appendage assembly and ciliogenesis. 61
30988386 2019
30
Role for intraflagellar transport in building a functional transition zone. 61
30429209 2018
31
IFT80 Improves Invasion Ability in Gastric Cancer Cell Line via ift80/p75NGFR/MMP9 Signaling. 61
30453504 2018
32
Disease-Associated Mutations in CEP120 Destabilize the Protein and Impair Ciliogenesis. 61
29847808 2018
33
A novel Cep120-dependent mechanism inhibits centriole maturation in quiescent cells. 61
29741480 2018
34
DYNC2H1 mutation causes Jeune syndrome and recurrent lung infections associated with ciliopathy. 61
28257607 2018
35
Expanding the phenotype associated with biallelic WDR60 mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophies. 61
29271569 2018
36
Primary presentation of Jeune's syndrome as gastric motility disorder in an infant: A case report. 61
29692530 2018
37
An unusual case of hypercapnic respiratory failure. 61
30406012 2018
38
Exome sequencing for the differential diagnosis of ciliary chondrodysplasias: Example of a WDR35 mutation case and review of the literature. 61
28870638 2017
39
Identification of a c.544C>T mutation in WDR34 as a deleterious recessive allele of short rib-polydactyly syndrome. 61
29241935 2017
40
Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum. 61
28422394 2017
41
Is Asphyxiating Thoracic Dystrophy (Jeune's Syndrome) Deadly and Should We Insist on Treating It? Reconstructive Surgery "On Demand". 61
28825014 2017
42
[Infant respiratory distress revealing Jeune syndrome]. 61
27889373 2017
43
Effective Neurally Adjusted Ventilatory Assist (NAVA) Ventilation in a Child With Jeune Syndrome. 61
27940767 2016
44
Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes. 61
27208211 2016
45
Distraction osteogenesis of the sternum for thoracic expansion in a severe case of jeune syndrome: a preliminary report. 61
27009488 2016
46
New mutations in DYNC2H1 and WDR60 genes revealed by whole-exome sequencing in two unrelated Sardinian families with Jeune asphyxiating thoracic dystrophy. 61
26874042 2016
47
Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function. 61
27094867 2016
48
A relatively mild skeletal ciliopathy phenotype consistent with cranioectodermal dysplasia is associated with a homozygous nonsynonymous mutation in WDR35. 61
26691894 2016
49
Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport. 61
27021811 2016
50
Spinal correction of scoliosis in Jeune syndrome: a report of two cases. 61
27299159 2016

Variations for Asphyxiating Thoracic Dystrophy

ClinVar genetic disease variations for Asphyxiating Thoracic Dystrophy:

6 (show top 50) (show all 677)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IFT140 , LOC105371046 NM_014714.4(IFT140):c.1380del (p.Asn460fs) Deletion Pathogenic 97055 rs431905522 GRCh37: 16:1633367-1633367
GRCh38: 16:1583366-1583366
2 IFT140 NM_014714.4(IFT140):c.1565G>A (p.Gly522Glu) SNV Pathogenic 97054 rs199826737 GRCh37: 16:1621495-1621495
GRCh38: 16:1571494-1571494
3 TTC21B-AS1 , TTC21B NM_024753.5(TTC21B):c.684G>A (p.Trp228Ter) SNV Pathogenic 216125 rs777162250 GRCh37: 2:166797563-166797563
GRCh38: 2:165941053-165941053
4 DYNC2H1 NM_001377.3(DYNC2H1):c.2702+1G>A SNV Pathogenic 220043 rs864622358 GRCh37: 11:103014125-103014125
GRCh38: 11:103143396-103143396
5 DYNC2H1 NM_001377.3(DYNC2H1):c.1757T>G (p.Val586Gly) SNV Pathogenic 220042 rs864622357 GRCh37: 11:102995924-102995924
GRCh38: 11:103125195-103125195
6 DYNC2H1 NM_001377.3(DYNC2H1):c.5495C>A (p.Ser1832Ter) SNV Pathogenic 238272 rs754919042 GRCh37: 11:103043971-103043971
GRCh38: 11:103173242-103173242
7 DYNC2H1 NM_001377.3(DYNC2H1):c.10585C>T (p.Arg3529Ter) SNV Pathogenic 407155 rs562139820 GRCh37: 11:103128460-103128460
GRCh38: 11:103257731-103257731
8 DYNC2H1 NM_001377.3(DYNC2H1):c.5547del (p.Phe1849fs) Deletion Pathogenic 407162 rs771003300 GRCh37: 11:103044023-103044023
GRCh38: 11:103173294-103173294
9 DYNC2H1 NM_001377.3(DYNC2H1):c.988C>T (p.Arg330Cys) SNV Pathogenic 40070 rs397514637 GRCh37: 11:102988581-102988581
GRCh38: 11:103117852-103117852
10 DYNC2H1 NM_001377.3(DYNC2H1):c.1306G>T (p.Glu436Ter) SNV Pathogenic 446556 rs371011047 GRCh37: 11:102991711-102991711
GRCh38: 11:103120982-103120982
11 DYNC2H1 NM_001377.3(DYNC2H1):c.1355_1358del (p.Ile452fs) Deletion Pathogenic 459277 rs1223907858 GRCh37: 11:102991758-102991761
GRCh38: 11:103121029-103121032
12 KIAA0753 NM_014804.3(KIAA0753):c.943C>T (p.Gln315Ter) SNV Pathogenic 428615 rs762771340 GRCh37: 17:6526363-6526363
GRCh38: 17:6623043-6623043
13 KIAA0753 NM_014804.3(KIAA0753):c.970C>T (p.Arg324Ter) SNV Pathogenic 428613 rs746068882 GRCh37: 17:6526336-6526336
GRCh38: 17:6623016-6623016
14 KIAA0753 NM_014804.3(KIAA0753):c.1271del (p.Pro424fs) Deletion Pathogenic 428614 rs1555531363 GRCh37: 17:6524152-6524152
GRCh38: 17:6620832-6620832
15 DYNC2H1 NM_001377.3(DYNC2H1):c.10573C>T (p.Arg3525Ter) SNV Pathogenic 446570 rs181011657 GRCh37: 11:103128448-103128448
GRCh38: 11:103257719-103257719
16 DYNC2H1 NM_001377.3(DYNC2H1):c.1141_1150del (p.Trp381fs) Deletion Pathogenic 528900 rs1555038664 GRCh37: 11:102991422-102991431
GRCh38: 11:103120693-103120702
17 TTC21B NM_024753.5(TTC21B):c.3383_3384del (p.Tyr1128fs) Deletion Pathogenic 528906 rs1553506530 GRCh37: 2:166744864-166744865
GRCh38: 2:165888354-165888355
18 TTC21B-AS1 , TTC21B NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu) SNV Pathogenic 30935 rs140511594 GRCh37: 2:166797621-166797621
GRCh38: 2:165941111-165941111
19 DYNC2H1 NM_001377.3(DYNC2H1):c.9820-2147G>A SNV Pathogenic 567216 rs1565423740 GRCh37: 11:103112275-103112275
GRCh38: 11:103241546-103241546
20 DYNC2H1 NM_001377.3(DYNC2H1):c.2235G>A (p.Trp745Ter) SNV Pathogenic 574328 rs1309577378 GRCh37: 11:103006253-103006253
GRCh38: 11:103135524-103135524
21 DYNC2H1 NM_001377.3(DYNC2H1):c.5682_5683del (p.His1896fs) Deletion Pathogenic 558742 rs767846762 GRCh37: 11:103046970-103046971
GRCh38: 11:103176241-103176242
22 DYNC2H1 NM_001377.3(DYNC2H1):c.729T>A (p.Tyr243Ter) SNV Pathogenic 558744 rs1565311145 GRCh37: 11:102987406-102987406
GRCh38: 11:103116677-103116677
23 DYNC2H1 NM_001377.3(DYNC2H1):c.1855C>T (p.Gln619Ter) SNV Pathogenic 558745 rs1260978141 GRCh37: 11:102996022-102996022
GRCh38: 11:103125293-103125293
24 DYNC2H1 NM_001377.3(DYNC2H1):c.1540C>T (p.Arg514Ter) SNV Pathogenic 558746 rs1565317399 GRCh37: 11:102993608-102993608
GRCh38: 11:103122879-103122879
25 DYNC2H1 Deletion Pathogenic 558749 GRCh37: 11:103016481-103177263
GRCh38: 11:103145752-103306534
26 DYNC2H1 NM_001377.3(DYNC2H1):c.2574+1G>A SNV Pathogenic 558750 rs1565329461 GRCh37: 11:103006678-103006678
GRCh38: 11:103135949-103135949
27 WDR19 NM_025132.4(WDR19):c.3868_3871del (p.Thr1290fs) Deletion Pathogenic 558761 rs747165335 GRCh37: 4:39279776-39279779
GRCh38: 4:39278156-39278159
28 DYNC2H1 NM_001080463.1(DYNC2H1):c.7141delG (p.Val2381Tyrfs) Deletion Pathogenic 663458 rs1160036887 GRCh37: 11:103059225-103059225
GRCh38: 11:103188496-103188496
29 KIAA0753 NM_014804.3(KIAA0753):c.970C>T (p.Arg324Ter) SNV Pathogenic 428613 rs746068882 GRCh37: 17:6526336-6526336
GRCh38: 17:6623016-6623016
30 IFT80 NC_000003.12:g.(?_160299237)_(160319939_?)del Deletion Pathogenic 830648 GRCh37: 3:160017025-160037727
GRCh38:
31 DYNC2H1 NM_001377.3(DYNC2H1):c.2386del (p.Arg796fs) Deletion Pathogenic 638016 rs765454943 GRCh37: 11:103006488-103006488
GRCh38: 11:103135759-103135759
32 TRIM59-IFT80 , IFT80 NM_020800.3(IFT80):c.1187del (p.Leu396fs) Deletion Pathogenic 957559 GRCh37: 3:160018799-160018799
GRCh38: 3:160301011-160301011
33 TRIM59-IFT80 , IFT80 NM_020800.3(IFT80):c.1961del (p.Asn654fs) Deletion Pathogenic 935920 GRCh37: 3:159995232-159995232
GRCh38: 3:160277444-160277444
34 WDR19 NM_025132.4(WDR19):c.1483G>C (p.Gly495Arg) SNV Pathogenic/Likely pathogenic 446641 rs1215108056 GRCh37: 4:39226507-39226507
GRCh38: 4:39224887-39224887
35 DYNC2I1 NM_018051.5(DYNC2I1):c.2305G>A (p.Glu769Lys) SNV Pathogenic/Likely pathogenic 446627 rs193204571 GRCh37: 7:158718925-158718925
GRCh38: 7:158926234-158926234
36 DYNC2H1 NM_001377.3(DYNC2H1):c.2341T>G (p.Tyr781Asp) SNV Pathogenic/Likely pathogenic 446566 rs1555043520 GRCh37: 11:103006359-103006359
GRCh38: 11:103135630-103135630
37 DYNC2H1 NM_001377.3(DYNC2H1):c.4553G>A (p.Cys1518Tyr) SNV Pathogenic/Likely pathogenic 446596 rs1555053115 GRCh37: 11:103033818-103033818
GRCh38: 11:103163089-103163089
38 DYNC2H1 NM_001377.3(DYNC2H1):c.2225T>G (p.Met742Arg) SNV Pathogenic/Likely pathogenic 446557 rs774610143 GRCh37: 11:103006243-103006243
GRCh38: 11:103135514-103135514
39 IFT140 , LOC105371046 NM_014714.4(IFT140):c.70C>T (p.His24Tyr) SNV Pathogenic/Likely pathogenic 446632 rs939722027 GRCh37: 16:1657198-1657198
GRCh38: 16:1607197-1607197
40 DYNC2H1 NM_001377.3(DYNC2H1):c.6265A>G (p.Asn2089Asp) SNV Pathogenic/Likely pathogenic 446554 rs753662982 GRCh37: 11:103049880-103049880
GRCh38: 11:103179151-103179151
41 DYNC2H1 NM_001377.3(DYNC2H1):c.4418T>C (p.Ile1473Thr) SNV Pathogenic/Likely pathogenic 446614 rs1555052511 GRCh37: 11:103031700-103031700
GRCh38: 11:103160971-103160971
42 DYNC2H1 NM_001377.3(DYNC2H1):c.6161G>C (p.Cys2054Ser) SNV Pathogenic/Likely pathogenic 446688 rs1555057838 GRCh37: 11:103049776-103049776
GRCh38: 11:103179047-103179047
43 IFT140 , LOC105371046 NM_014714.4(IFT140):c.1010-1G>A SNV Pathogenic/Likely pathogenic 280884 rs770185023 GRCh37: 16:1636277-1636277
GRCh38: 16:1586276-1586276
44 DYNC2H1 NM_001377.3(DYNC2H1):c.625T>A (p.Phe209Ile) SNV Pathogenic/Likely pathogenic 446586 rs771511132 GRCh37: 11:102987302-102987302
GRCh38: 11:103116573-103116573
45 DYNC2H1 NM_001377.3(DYNC2H1):c.9353+1G>A SNV Pathogenic/Likely pathogenic 446543 rs776407305 GRCh37: 11:103093816-103093816
GRCh38: 11:103223087-103223087
46 DYNC2H1 NM_001377.3(DYNC2H1):c.8434del (p.Ser2812fs) Deletion Pathogenic/Likely pathogenic 446559 rs1555068636 GRCh37: 11:103075673-103075673
GRCh38: 11:103204944-103204944
47 EVC2 NM_147127.5(EVC2):c.3360+1G>A SNV Pathogenic/Likely pathogenic 446666 rs1553815019 GRCh37: 4:5576411-5576411
GRCh38: 4:5574684-5574684
48 DYNC2I2 NM_052844.3(DYNC2I2):c.1567_1582del (p.Glu523fs) Deletion Pathogenic/Likely pathogenic 446622 rs1554770453 GRCh37: 9:131396052-131396067
GRCh38: 9:128633773-128633788
49 EVC2 NM_147127.5(EVC2):c.619G>T (p.Asp207Tyr) SNV Pathogenic/Likely pathogenic 446663 rs761707323 GRCh37: 4:5690971-5690971
GRCh38: 4:5689244-5689244
50 DYNC2H1 NM_001377.3(DYNC2H1):c.7594C>T (p.Arg2532Trp) SNV Pathogenic/Likely pathogenic 446613 rs1350329646 GRCh37: 11:103062879-103062879
GRCh38: 11:103192150-103192150

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:

36
# 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 WDR35 WDR19 TTC21B TRAF3IP1 IFT81 IFT80
2
Show member pathways
12.17 WDR35 WDR19 TTC21B IFT140 EVC2 DYNC2H1
3 10.98 WDR35 WDR19 TTC21B TRAF3IP1 IFT81 IFT80

GO Terms for Asphyxiating Thoracic Dystrophy

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 10.18 WDR35 WDR19 TTC21B TRAF3IP1 KIAA0753 KIAA0586
2 cell projection GO:0042995 9.97 WDR35 WDR19 TTC21B TRAF3IP1 KIAA0586 IFT81
3 centrosome GO:0005813 9.96 WDR35 TRAF3IP1 KIAA0753 KIAA0586 IFT81 IFT80
4 microtubule organizing center GO:0005815 9.95 WDR35 KIAA0753 KIAA0586 IFT140 DYNC2I2 DYNC2I1
5 ciliary basal body GO:0036064 9.87 WDR35 TRAF3IP1 KIAA0586 IFT81 IFT80 IFT140
6 axoneme GO:0005930 9.85 WDR35 TRAF3IP1 IFT140 DYNC2I2 DYNC2H1
7 motile cilium GO:0031514 9.84 WDR19 IFT81 IFT74 DYNC2H1
8 centriole GO:0005814 9.83 KIAA0753 KIAA0586 IFT140 DYNC2I2
9 intraciliary transport particle B GO:0030992 9.73 TRAF3IP1 IFT81 IFT80 IFT74
10 ciliary tip GO:0097542 9.7 WDR35 WDR19 TTC21B TRAF3IP1 IFT81 IFT80
11 cytoplasmic dynein complex GO:0005868 9.67 DYNC2I2 DYNC2I1 DYNC2H1
12 intraciliary transport particle A GO:0030991 9.67 WDR35 WDR19 TTC21B IFT140
13 non-motile cilium GO:0097730 9.55 WDR19 IFT140
14 ciliary plasm GO:0097014 9.51 DYNC2I2 DYNC2I1
15 cilium GO:0005929 9.4 WDR35 WDR19 TTC21B TRAF3IP1 IFT81 IFT80

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 cell projection organization GO:0030030 9.97 WDR35 WDR19 TRAF3IP1 KIAA0586 IFT81 IFT74
2 intraciliary transport GO:0042073 9.8 WDR35 TRAF3IP1 IFT81 IFT74 IFT140 DYNC2I2
3 smoothened signaling pathway GO:0007224 9.77 WDR19 TTC21B KIAA0586 IFT80 EVC2
4 non-motile cilium assembly GO:1905515 9.73 IFT80 IFT74 IFT140 DYNC2H1
5 protein localization to cilium GO:0061512 9.71 WDR35 TTC21B IFT140 DYNC2H1
6 intraciliary retrograde transport GO:0035721 9.7 WDR35 WDR19 TTC21B IFT140 DYNC2I2 DYNC2I1
7 cilium assembly GO:0060271 9.7 WDR35 WDR19 TRAF3IP1 KIAA0586 IFT81 IFT80
8 microtubule-based movement GO:0007018 9.67 DYNC2I2 DYNC2I1 DYNC2H1
9 determination of left/right symmetry GO:0007368 9.65 IFT74 IFT140 DYNC2H1
10 regulation of smoothened signaling pathway GO:0008589 9.63 TTC21B IFT81 IFT140
11 embryonic cranial skeleton morphogenesis GO:0048701 9.54 WDR19 IFT140
12 limb morphogenesis GO:0035108 9.52 IFT140 FLVCR1
13 embryonic camera-type eye development GO:0031076 9.51 WDR19 IFT140
14 intraciliary transport involved in cilium assembly GO:0035735 9.36 WDR35 WDR19 TTC21B TRAF3IP1 IFT81 IFT80

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

# Name GO ID Score Top Affiliating Genes
1 dynein heavy chain binding GO:0045504 8.96 DYNC2I2 DYNC2I1
2 dynein light chain binding GO:0045503 8.62 DYNC2I2 DYNC2I1

Sources for Asphyxiating Thoracic Dystrophy

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