ATD
MCID: ASP005
MIFTS: 50

Asphyxiating Thoracic Dystrophy (ATD)

Categories: Bone diseases
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Aliases & Classifications for Asphyxiating Thoracic Dystrophy

MalaCards integrated aliases for Asphyxiating Thoracic Dystrophy:

Name: Asphyxiating Thoracic Dystrophy 11 42 14 33
Jeune Thoracic Dystrophy 42 28 5 71
Asphyxiating Thoracic Dysplasia 42 75 33
Jeune Syndrome 11 42 33
Short-Rib Thoracic Dysplasia with or Without Polydactyly 11
Short-Rib Thoracic Dysplasia Without Polydactyly 5
Asphyxiating Thoracic Dystrophy of the Newborn 33
Chondroectodermal Dysplasia-Like Syndrome 42
Asphyxiating Thoracic Chondrodystrophy 42
Thoracic-Pelvic-Phalangeal Dystrophy 42
Thoracic Pelvic Phalangeal Dystrophy 11
Thoracic Asphyxiant Dystrophy 42
Asphyxiating Thorax Dystrophy 33
Infantile Thoracic Dystrophy 42
Jeune Thoracic Dysplasia 42
Atd 42

Classifications:



External Ids:

Disease Ontology 11 DOID:0050592
ICD10 31 Q77.2
ICD11 33 554018956
UMLS 71 C0265275

Summaries for Asphyxiating Thoracic Dystrophy

MedlinePlus Genetics: 42 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 1 with or without polydactyly and short-rib thoracic dysplasia 3 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 Signal Transduction and Organelle biogenesis and maintenance. Affiliated tissues include bone, pancreas and kidney, and related phenotypes are growth/size/body region and limbs/digits/tail

Disease Ontology: 11 A bone development disease characterized by skeletal abnormalities and resulting in difficulty in breathing caused by mutations that result in ciliopathy.

Wikipedia: 75 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 219)
# Related Disease Score Top Affiliating Genes
1 short-rib thoracic dysplasia 1 with or without polydactyly 33.8 WDR35 WDR19 TTC21B-AS1 TTC21B TRIM59-IFT80 TRAF3IP1
2 short-rib thoracic dysplasia 3 with or without polydactyly 33.8 WDR35 WDR19 TTC21B TRAF3IP1 KIAA0586 IFT81
3 short-rib thoracic dysplasia 4 with or without polydactyly 33.7 WDR35 WDR19 TTC21B-AS1 TTC21B IFT140 DYNC2I1
4 short-rib thoracic dysplasia 5 with or without polydactyly 33.7 WDR35 WDR19 TTC21B IFT140
5 short-rib thoracic dysplasia 2 with or without polydactyly 33.6 TRIM59-IFT80 IFT80
6 joubert syndrome with jeune asphyxiating thoracic dystrophy 33.3 LOC105371046 KIAA0586 IFT140
7 short-rib thoracic dysplasia 7 with or without polydactyly 33.1 WDR35 WDR19 TTC21B IFT140 DYNC2I1
8 short-rib thoracic dysplasia 6 with or without polydactyly 33.1 WDR35 WDR19 TTC21B TRIM59-IFT80 TRAF3IP1 KIAA0586
9 short-rib thoracic dysplasia 11 with or without polydactyly 33.0 SPTAN1 DYNC2I2 DYNC2I1 DYNC2H1
10 short-rib thoracic dysplasia 9 with or without polydactyly 33.0 WDR35 WDR19 TTC21B LOC105371046 IFT140 EVC2
11 short-rib thoracic dysplasia 8 with or without polydactyly 33.0 DYNC2I2 DYNC2I1 DYNC2H1
12 short-rib thoracic dysplasia 10 with or without polydactyly 32.9 LBR DYNC2H1
13 short-rib thoracic dysplasia 12 32.7 WDR35 WDR19 TTC21B TRIM59-IFT80 TRAF3IP1 KIAA0586
14 osteochondrodysplasia 31.8 WDR35 WDR19 TTC21B LBR IFT80 EVC2
15 polydactyly 31.8 WDR35 WDR19 TTC21B KIAA0586 IFT81 IFT80
16 joubert syndrome 1 31.4 WDR35 WDR19 TTC21B TRAF3IP1 SPTAN1 KIAA0753
17 ellis-van creveld syndrome 31.3 WDR35 WDR19 TTC21B TRAF3IP1 KIAA0753 KIAA0586
18 cystic kidney disease 31.1 WDR19 TTC21B IFT80 IFT140
19 short rib-polydactyly syndrome 31.1 WDR35 IFT81 DYNC2H1
20 leber plus disease 31.0 WDR19 TTC21B KIAA0586 IFT80 IFT140
21 cranioectodermal dysplasia 30.9 WDR35 WDR19 TTC21B TRAF3IP1 KIAA0586 IFT81
22 bardet-biedl syndrome 30.9 WDR35 WDR19 TTC21B TRAF3IP1 IFT81 IFT80
23 nephronophthisis 30.9 WDR35 WDR19 TTC21B-AS1 TTC21B TRAF3IP1 LOC105371046
24 fundus dystrophy 30.9 WDR35 WDR19 TTC21B-AS1 TTC21B TRAF3IP1 LOC105371046
25 meckel syndrome, type 1 30.9 WDR35 WDR19 TTC21B TRAF3IP1 KIAA0586 IFT80
26 polycystic kidney disease 30.9 WDR19 TTC21B IFT80 IFT140
27 retinitis pigmentosa 30.8 WDR35 WDR19 TTC21B TRAF3IP1 LOC105371046 KIAA0586
28 cone-rod dystrophy 2 30.8 WDR35 WDR19 TRAF3IP1 LOC105371046 KIAA0753 KIAA0586
29 situs inversus 30.8 WDR19 TTC21B IFT80 IFT140 DYNC2H1
30 chromosome 2q35 duplication syndrome 30.8 WDR35 WDR19 IFT140 EVC2
31 infantile nephronophthisis 30.8 TTC21B-AS1 TTC21B
32 retinal degeneration 30.7 TTC21B IFT81 DYNC2I1 DYNC2H1
33 retinitis pigmentosa 80 30.5 LOC105371046 IFT140
34 nephronophthisis 2 30.3 TTC21B-AS1 TTC21B
35 benallegue lacete syndrome 11.7
36 short-rib thoracic dysplasia 14 with polydactyly 11.5
37 short-rib thoracic dysplasia 18 with polydactyly 11.5
38 short-rib thoracic dysplasia 19 with or without polydactyly 11.5
39 short-rib thoracic dysplasia 17 with or without polydactyly 11.4
40 short-rib thoracic dysplasia 13 with or without polydactyly 11.4
41 short-rib thoracic dysplasia 15 with polydactyly 11.4
42 short-rib thoracic dysplasia 16 with or without polydactyly 11.4
43 short-rib thoracic dysplasia 20 with polydactyly 11.4
44 short-rib thoracic dysplasia 21 without polydactyly 11.3
45 jeune syndrome situs inversus 11.2
46 weyers acrofacial dysostosis 10.6 WDR35 WDR19 TTC21B KIAA0586 IFT80 IFT140
47 acrofacial dysostosis 10.6 WDR35 WDR19 TTC21B IFT80 EVC2 DYNC2I2
48 respiratory failure 10.6
49 primary ciliary dyskinesia 10.6 WDR35 WDR19 TTC21B TRAF3IP1 KIAA0586 IFT81
50 visceral heterotaxy 10.5 WDR35 WDR19 TTC21B TRAF3IP1 KIAA0586 IFT80

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.22 DYNC2H1 DYNC2I1 DYNC2I2 EVC2 GRK2 IFT140
2 limbs/digits/tail MP:0005371 10.17 DYNC2H1 DYNC2I2 EVC2 IFT140 IFT80 KIAA0586
3 embryo MP:0005380 10.15 DYNC2H1 DYNC2I1 DYNC2I2 GRK2 IFT140 KIAA0586
4 cellular MP:0005384 10 DYNC2H1 DYNC2I2 EVC2 GRK2 IFT140 IFT80
5 craniofacial MP:0005382 9.96 DYNC2H1 EVC2 IFT140 IFT80 KIAA0586 KIAA0753
6 digestive/alimentary MP:0005381 9.87 DYNC2H1 DYNC2I1 EVC2 IFT140 LBR WDR19
7 skeleton MP:0005390 9.61 DYNC2H1 EVC2 IFT140 IFT80 KIAA0586 LBR
8 mortality/aging MP:0010768 9.53 DYNC2H1 DYNC2I1 DYNC2I2 EVC2 GRK2 IFT140

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
2 Classification and Functional Stratification of the Patients With Ciliopathy and Identification of Biomarkers to Improve Their Prognosis Recruiting NCT04874909

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 28

Anatomical Context for Asphyxiating Thoracic Dystrophy

Organs/tissues related to Asphyxiating Thoracic Dystrophy:

MalaCards : Bone, Pancreas, Kidney, Liver, Eye, Heart, Spinal Cord

Publications for Asphyxiating Thoracic Dystrophy

Articles related to Asphyxiating Thoracic Dystrophy:

(show top 50) (show all 362)
# Title Authors PMID Year
1
DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration. 62 5
32753734 2020
2
Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling. 62 5
33200460 2020
3
Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies. 62 5
29068549 2018
4
Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome. 62 5
27666822 2016
5
Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement. 62 5
23456818 2013
6
Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease. 62 5
23418020 2013
7
Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families. 62 5
23339108 2013
8
An Ift80 mouse model of short rib polydactyly syndromes shows defects in hedgehog signalling without loss or malformation of cilia. 62 5
21227999 2011
9
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. 62 5
21258341 2011
10
DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. 62 5
19442771 2009
11
Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder. 5
30266093 2018
12
Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies. 5
29138412 2017
13
Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy. 5
27491411 2016
14
Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies. 5
25492405 2015
15
Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints. 5
25640679 2015
16
A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS. 5
24876116 2014
17
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. 5
23559409 2013
18
Active human retrotransposons: variation and disease. 5
22406018 2012
19
NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases. 5
22499340 2012
20
Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum. 5
19648123 2011
21
Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. 5
21068128 2011
22
A mobile threat to genome stability: The impact of non-LTR retrotransposons upon the human genome. 5
20307669 2010
23
The impact of retrotransposons on human genome evolution. 5
19763152 2009
24
Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome. 5
19361615 2009
25
THM1 negatively modulates mouse sonic hedgehog signal transduction and affects retrograde intraflagellar transport in cilia. 5
18327258 2008
26
Splicing in action: assessing disease causing sequence changes. 5
16199547 2005
27
Disease-associated mutations in WDR34 lead to diverse impacts on the assembly and function of dynein-2. 62
36268591 2023
28
A novel WDR60 variant contributes to a late diagnosis of Jeune asphyxiating thoracic dystrophy in a Chinese patient: A case report. 62
36381051 2022
29
NPHP3 splice acceptor site variant is associated with infantile nephronophthisis and asphyxiating thoracic dystrophy; A rare combination. 62
35987473 2022
30
The intraflagellar transport protein IFT52 associated with short-rib thoracic dysplasia is essential for ciliary function in osteogenic differentiation in vitro and for sensory perception in Drosophila. 62
35839863 2022
31
Novel median thoracic expansion for asphyxiating thoracic dystrophy. 62
35975231 2022
32
Bilateral correction of asphyxiating thoracic dystrophy. 62
35975226 2022
33
Meier-Gorlin Syndrome: Clinical Misdiagnosis, Genetic Testing and Functional Analysis of ORC6 Mutations and the Development of a Prenatal Test. 62
36012502 2022
34
Prenatal Diagnosis of Jeune Syndrome Caused by Compound Heterozygous Variants in DYNC2H1 Gene-Case Report with Rapid WES Procedure and Differential Diagnosis of Lethal Skeletal Dysplasias. 62
35893076 2022
35
Enriching UMLS-Based Phenotyping of Rare Diseases Using Deep-Learning: Evaluation on Jeune Syndrome. 62
35612223 2022
36
RETINAL DYSTROPHY IN JEUNE SYNDROME: A MULTIMODAL IMAGING CHARACTERIZATION. 62
31958104 2022
37
Role of Primary Cilia in Bone and Cartilage. 62
34743626 2022
38
[Chest Wall Deformities in Children and Adolescents]. 62
34963176 2022
39
Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes-Challenges for the Accurate Diagnosis. 62
35873489 2022
40
Surgical treatment of a 36-year-old patient with asphyxiating thoracic dysplasia. 62
34999795 2022
41
A curious case of asphyxiating thoracic dystrophy in an adult. 62
34795902 2021
42
Ttc30a affects tubulin modifications in a model for ciliary chondrodysplasia with polycystic kidney disease. 62
34548398 2021
43
Clinical phenocopies of albinism. 62
34280564 2021
44
Lethal and life-limiting skeletal dysplasias: Selected prenatal issues. 62
34019743 2021
45
Biallelic loss of function variant in the unfolded protein response gene PDIA6 is associated with asphyxiating thoracic dystrophy and neonatal-onset diabetes. 62
33495992 2021
46
Clinical exome sequencing facilitates the understanding of genetic heterogeneity in Leber congenital amaurosis patients with variable phenotype in southern India. 62
33957996 2021
47
A novel heterotaxy gene: Expansion of the phenotype of TTC21B-spectrum disease. 62
33547761 2021
48
A new technique for neonatal Jeune syndrome: External thoracic expansion. 62
34104526 2021
49
Overlapping holoprosencephaly-polydactyl syndrome and asphyxiating thoracic dystrophy, an incidental finding in late prenatal ultrasound: A rare case report. 62
33768892 2021
50
First Report of Spinal Anesthesia for Cesarean Delivery in a Parturient With Jeune Syndrome: A Case Report. 62
33577174 2021

Variations for Asphyxiating Thoracic Dystrophy

ClinVar genetic disease variations for Asphyxiating Thoracic Dystrophy:

5 (show top 50) (show all 1720)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 WDR19 NM_025132.4(WDR19):c.3868_3871del (p.Thr1290fs) DEL Pathogenic
558761 rs747165335 GRCh37: 4:39279776-39279779
GRCh38: 4:39278156-39278159
2 GRK2 NM_001619.5(GRK2):c.469C>T (p.Leu157Phe) SNV Pathogenic
1184830 GRCh37: 11:67047337-67047337
GRCh38: 11:67279866-67279866
3 TTC21B NM_024753.5(TTC21B):c.1320del (p.Phe440fs) DEL Pathogenic
446650 rs775836730 GRCh37: 2:166785711-166785711
GRCh38: 2:165929201-165929201
4 TTC21B NM_024753.5(TTC21B):c.2758-2A>G SNV Pathogenic
30937 rs766132877 GRCh37: 2:166756392-166756392
GRCh38: 2:165899882-165899882
5 TTC21B NM_024753.5(TTC21B):c.3144del (p.Ala1049fs) DEL Pathogenic
1372589 GRCh37: 2:166747108-166747108
GRCh38: 2:165890598-165890598
6 TTC21B NM_024753.5(TTC21B):c.1715C>A (p.Ser572Ter) SNV Pathogenic
546034 rs369159801 GRCh37: 2:166773951-166773951
GRCh38: 2:165917441-165917441
7 IFT140, LOC105371046 NM_014714.4(IFT140):c.1380del (p.Asn460fs) DEL Pathogenic
97055 rs431905522 GRCh37: 16:1633367-1633367
GRCh38: 16:1583366-1583366
8 TTC21B NM_024753.5(TTC21B):c.1263_1266dup (p.Leu423fs) DUP Pathogenic
1379421 GRCh37: 2:166785764-166785765
GRCh38: 2:165929254-165929255
9 TTC21B NM_024753.5(TTC21B):c.1138C>T (p.Gln380Ter) SNV Pathogenic
1392901 GRCh37: 2:166786207-166786207
GRCh38: 2:165929697-165929697
10 DYNC2H1 DEL Pathogenic
558749 GRCh37: 11:103016481-103177263
GRCh38: 11:103145752-103306534
11 TTC21B NM_024753.5(TTC21B):c.2337T>G (p.Tyr779Ter) SNV Pathogenic
1361272 GRCh37: 2:166767961-166767961
GRCh38: 2:165911451-165911451
12 TRIM59-IFT80, IFT80 NM_020800.3(IFT80):c.629_630del (p.Asp209_Cys210insTer) DEL Pathogenic
1365265 GRCh37: 3:160075286-160075287
GRCh38: 3:160357498-160357499
13 TTC21B NM_024753.5(TTC21B):c.2572C>T (p.Arg858Ter) SNV Pathogenic
1399888 GRCh37: 2:166758417-166758417
GRCh38: 2:165901907-165901907
14 TTC21B NM_024753.5(TTC21B):c.1575T>G (p.Tyr525Ter) SNV Pathogenic
1436713 GRCh37: 2:166775885-166775885
GRCh38: 2:165919375-165919375
15 TTC21B NM_024753.5(TTC21B):c.1377T>A (p.Cys459Ter) SNV Pathogenic
1363746 GRCh37: 2:166785654-166785654
GRCh38: 2:165929144-165929144
16 TTC21B NM_024753.5(TTC21B):c.2482dup (p.Met828fs) DUP Pathogenic
1453748 GRCh37: 2:166764273-166764274
GRCh38: 2:165907763-165907764
17 TRIM59-IFT80, IFT80 NM_020800.3(IFT80):c.1066del (p.Tyr356fs) DEL Pathogenic
1453983 GRCh37: 3:160025461-160025461
GRCh38: 3:160307673-160307673
18 overlap with 20 genes NC_000011.9:g.(?_101323686)_(103349981_?)del DEL Pathogenic
1455268 GRCh37: 11:101323686-103349981
GRCh38:
19 TTC21B NM_024753.5(TTC21B):c.3044del (p.Arg1015fs) DEL Pathogenic
1363403 GRCh37: 2:166747405-166747405
GRCh38: 2:165890895-165890895
20 TTC21B NM_024753.5(TTC21B):c.2692C>T (p.Arg898Ter) SNV Pathogenic
1457474 GRCh37: 2:166758297-166758297
GRCh38: 2:165901787-165901787
21 TTC21B NM_024753.5(TTC21B):c.1942dup (p.Ser648fs) DUP Pathogenic
1458764 GRCh37: 2:166771906-166771907
GRCh38: 2:165915396-165915397
22 TTC21B NM_024753.5(TTC21B):c.1007_1025del (p.Leu336fs) DEL Pathogenic
1424345 GRCh37: 2:166786744-166786762
GRCh38: 2:165930234-165930252
23 TTC21B NM_024753.5(TTC21B):c.1346T>G (p.Leu449Ter) SNV Pathogenic
1456585 GRCh37: 2:166785685-166785685
GRCh38: 2:165929175-165929175
24 TTC21B NM_024753.5(TTC21B):c.3112G>T (p.Glu1038Ter) SNV Pathogenic
1417573 GRCh37: 2:166747140-166747140
GRCh38: 2:165890630-165890630
25 TRIM59-IFT80, IFT80 NM_020800.3(IFT80):c.225_226insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAAACAAACC (p.Gln76fs) INSERT Pathogenic
1442026 GRCh37: 3:160099324-160099325
GRCh38: 3:160381536-160381537
26 TTC21B NM_024753.5(TTC21B):c.3076C>T (p.Gln1026Ter) SNV Pathogenic
1458640 GRCh37: 2:166747373-166747373
GRCh38: 2:165890863-165890863
27 TTC21B NM_024753.5(TTC21B):c.172C>T (p.Arg58Ter) SNV Pathogenic
1451834 GRCh37: 2:166805994-166805994
GRCh38: 2:165949484-165949484
28 TTC21B NM_024753.5(TTC21B):c.3045del (p.Asn1016fs) DEL Pathogenic
1451840 GRCh37: 2:166747404-166747404
GRCh38: 2:165890894-165890894
29 TRIM59-IFT80, IFT80 NM_020800.3(IFT80):c.898_899del (p.Glu300fs) DEL Pathogenic
1435198 GRCh37: 3:160037606-160037607
GRCh38: 3:160319818-160319819
30 DYNC2H1 NC_000011.9:g.(?_103325894)_(103349981_?)del DEL Pathogenic
1456954 GRCh37: 11:103325894-103349981
GRCh38:
31 TRIM59-IFT80, IFT80 NM_020800.3(IFT80):c.551G>A (p.Trp184Ter) SNV Pathogenic
1453252 GRCh37: 3:160075365-160075365
GRCh38: 3:160357577-160357577
32 TRIM59-IFT80, IFT80 NM_020800.3(IFT80):c.1388del (p.Ile463fs) DEL Pathogenic
1451633 GRCh37: 3:160000394-160000394
GRCh38: 3:160282606-160282606
33 TTC21B NM_024753.5(TTC21B):c.3164G>A (p.Trp1055Ter) SNV Pathogenic
1351437 GRCh37: 2:166747088-166747088
GRCh38: 2:165890578-165890578
34 TTC21B NM_024753.5(TTC21B):c.2818C>T (p.Gln940Ter) SNV Pathogenic
1350763 GRCh37: 2:166756330-166756330
GRCh38: 2:165899820-165899820
35 TRIM59-IFT80, IFT80 NM_020800.3(IFT80):c.1961del (p.Asn654fs) DEL Pathogenic
935920 rs779179710 GRCh37: 3:159995232-159995232
GRCh38: 3:160277444-160277444
36 TRIM59-IFT80, IFT80 NM_020800.3(IFT80):c.1187del (p.Leu396fs) DEL Pathogenic
957559 rs1716383227 GRCh37: 3:160018799-160018799
GRCh38: 3:160301011-160301011
37 TRIM59-IFT80, IFT80 NM_020800.3(IFT80):c.972_973insNNNNNNNNTTTTTTTT (p.Asn325delinsXaaXaaXaaPhePheTer) MICROSAT Pathogenic
1072907 GRCh37: 3:160025554-160025555
GRCh38: 3:160307766-160307767
38 TTC21B NM_024753.5(TTC21B):c.3383_3384del (p.Tyr1128fs) DEL Pathogenic
528906 rs1553506530 GRCh37: 2:166744864-166744865
GRCh38: 2:165888354-165888355
39 IFT80 NC_000003.12:g.(?_160299237)_(160319939_?)del DEL Pathogenic
830648 GRCh37: 3:160017025-160037727
GRCh38:
40 TTC21B NM_024753.5(TTC21B):c.1546C>T (p.Gln516Ter) SNV Pathogenic
1070283 GRCh37: 2:166775914-166775914
GRCh38: 2:165919404-165919404
41 TRIM59-IFT80, IFT80 NM_020800.3(IFT80):c.1882C>T (p.Arg628Ter) SNV Pathogenic
1071537 GRCh37: 3:159995413-159995413
GRCh38: 3:160277625-160277625
42 TRIM59-IFT80, IFT80 NM_020800.3(IFT80):c.639+1del DEL Pathogenic
1075438 GRCh37: 3:160075276-160075276
GRCh38: 3:160357488-160357488
43 overlap with 7 genes NC_000002.11:g.(?_165946660)_(167168266_?)del DEL Pathogenic
1054402 GRCh37: 2:165946660-167168266
GRCh38:
44 TTC21B-AS1, TTC21B NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu) SNV Pathogenic
30935 rs140511594 GRCh37: 2:166797621-166797621
GRCh38: 2:165941111-165941111
45 KIAA0753 NM_014804.3(KIAA0753):c.943C>T (p.Gln315Ter) SNV Pathogenic
428615 rs762771340 GRCh37: 17:6526363-6526363
GRCh38: 17:6623043-6623043
46 KIAA0753 NM_014804.3(KIAA0753):c.970C>T (p.Arg324Ter) SNV Pathogenic
Pathogenic
428613 rs746068882 GRCh37: 17:6526336-6526336
GRCh38: 17:6623016-6623016
47 KIAA0753 NM_014804.3(KIAA0753):c.1271del (p.Pro424fs) DEL Pathogenic
428614 rs1555531363 GRCh37: 17:6524152-6524152
GRCh38: 17:6620832-6620832
48 TTC21B-AS1, TTC21B NM_024753.5(TTC21B):c.684G>A (p.Trp228Ter) SNV Pathogenic
Pathogenic
216125 rs777162250 GRCh37: 2:166797563-166797563
GRCh38: 2:165941053-165941053
49 TTC21B NM_024753.5(TTC21B):c.1231C>T (p.Arg411Ter) SNV Pathogenic
30938 rs185089786 GRCh37: 2:166785800-166785800
GRCh38: 2:165929290-165929290
50 DYNC2H1 NM_001377.3(DYNC2H1):c.5495C>A (p.Ser1832Ter) SNV Pathogenic
238272 rs754919042 GRCh37: 11:103043971-103043971
GRCh38: 11:103173242-103173242

Expression for Asphyxiating Thoracic Dystrophy

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

Pathways for Asphyxiating Thoracic Dystrophy

GO Terms for Asphyxiating Thoracic Dystrophy

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 centrosome GO:0005813 10.36 DYNC2I1 DYNC2I2 IFT140 IFT80 IFT81 KIAA0586
2 ciliary basal body GO:0036064 10.21 WDR35 TRAF3IP1 KIAA0586 IFT81 IFT80 IFT140
3 centriole GO:0005814 10.18 KIAA0753 KIAA0586 IFT81 IFT140 DYNC2I2
4 cytoskeleton GO:0005856 10.16 WDR35 WDR19 TTC21B TRAF3IP1 SPTAN1 KIAA0753
5 axoneme GO:0005930 10.13 DYNC2H1 DYNC2I2 IFT140 TRAF3IP1 WDR35
6 cell projection GO:0042995 10.03 DYNC2H1 DYNC2I1 DYNC2I2 EVC2 GRK2 IFT140
7 cilium GO:0005929 10.03 DYNC2H1 DYNC2I1 DYNC2I2 EVC2 GRK2 IFT140
8 cytoplasmic dynein complex GO:0005868 10 DYNC2I2 DYNC2I1 DYNC2H1
9 intraciliary transport particle B GO:0030992 9.97 TRAF3IP1 IFT81 IFT80
10 microtubule organizing center GO:0005815 9.93 WDR35 KIAA0753 KIAA0586 IFT140 DYNC2I2 DYNC2I1
11 intraciliary transport particle A GO:0030991 9.92 IFT140 TTC21B WDR19 WDR35
12 ciliary plasm GO:0097014 9.81 DYNC2I2 DYNC2I1
13 ciliary tip GO:0097542 9.62 WDR35 WDR19 TTC21B TRAF3IP1 IFT81 IFT80

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 intraciliary transport GO:0042073 10.03 DYNC2I1 DYNC2I2 IFT140 IFT81 TRAF3IP1 WDR35
2 microtubule-based movement GO:0007018 9.97 DYNC2I2 DYNC2I1 DYNC2H1
3 protein localization to cilium GO:0061512 9.97 WDR35 TTC21B IFT140 DYNC2H1
4 smoothened signaling pathway GO:0007224 9.97 WDR19 TTC21B KIAA0586 IFT80 EVC2
5 non-motile cilium assembly GO:1905515 9.93 IFT80 IFT140 DYNC2H1
6 regulation of smoothened signaling pathway GO:0008589 9.91 TTC21B IFT81 IFT140
7 intraciliary anterograde transport GO:0035720 9.88 IFT80 IFT81 TRAF3IP1
8 intraciliary retrograde transport GO:0035721 9.8 DYNC2H1 DYNC2I1 DYNC2I2 IFT140 TTC21B WDR19
9 embryonic camera-type eye development GO:0031076 9.78 WDR19 IFT140
10 cell projection organization GO:0030030 9.76 WDR35 WDR19 TRAF3IP1 KIAA0586 IFT81 IFT140
11 cilium assembly GO:0060271 9.7 WDR35 WDR19 TTC21B TRAF3IP1 KIAA0753 KIAA0586

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 9.26 DYNC2I2 DYNC2I1
2 dynein light chain binding GO:0045503 8.92 DYNC2I2 DYNC2I1

Sources for Asphyxiating Thoracic Dystrophy

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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