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MCID: ASP005
MIFTS: 43

Asphyxiating Thoracic Dystrophy

Categories: Genetic diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Asphyxiating Thoracic Dystrophy

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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:

MalaCards categories:
Global: Genetic diseases
See all MalaCards categories (disease lists)
ICD10: 33


External Ids:

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

Summaries for Asphyxiating Thoracic Dystrophy

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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 9 with or without polydactyly, and has symptoms including icterus An important gene associated with Asphyxiating Thoracic Dystrophy is DYNC2H1 (Dynein Cytoplasmic 2 Heavy Chain 1), and among its related pathways/superpathways are Phagosome and Vasopressin-regulated water reabsorption. Affiliated tissues include lung, bone and spinal cord, and related phenotypes are cellular and mortality/aging

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

Sources

Related Diseases for Asphyxiating Thoracic Dystrophy

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

(show all 44)
# Related Disease Score Top Affiliating Genes
1 joubert syndrome with jeune asphyxiating thoracic dystrophy 34.3 IFT140 KIAA0586
2 short-rib thoracic dysplasia 9 with or without polydactyly 32.4 IFT140 IFT172
3 short-rib thoracic dysplasia 3 with or without polydactyly 32.3 CEP120 DYNC2H1 DYNC2LI1 IFT80 KIAA0586 NEK1
4 short-rib thoracic dysplasia 12 32.1 EVC2 IFT80 NEK1 TTC21B WDR19
5 short-rib thoracic dysplasia 6 with or without polydactyly 32.0 DYNC2H1 EVC2 IFT80 NEK1 TRAF3IP1 TTC21B
6 short-rib thoracic dysplasia 1 with or without polydactyly 30.5 ATD CEP120 DYNC2H1 DYNC2LI1 EVC2 IFT140
7 polydactyly 30.4 DYNC2H1 DYNC2LI1 NEK1 TCTEX1D2 WDR34 WDR35
8 joubert syndrome 1 30.0 CEP120 IFT140 IFT172 KIAA0586 KIAA0753 TTC21B
9 ellis-van creveld syndrome 28.7 CEP120 DYNC2H1 DYNC2LI1 EVC2 IFT172 IFT80
10 short-rib thoracic dysplasia 2 with or without polydactyly 12.4
11 short-rib thoracic dysplasia 4 with or without polydactyly 12.3
12 short-rib thoracic dysplasia 5 with or without polydactyly 12.3
13 short-rib thoracic dysplasia 10 with or without polydactyly 11.7
14 short-rib thoracic dysplasia 7 with or without polydactyly 11.4
15 short-rib thoracic dysplasia 8 with or without polydactyly 11.4
16 short-rib thoracic dysplasia 11 with or without polydactyly 11.4
17 short-rib thoracic dysplasia 14 with polydactyly 11.4
18 benallegue lacete syndrome 11.3
19 short-rib thoracic dysplasia 13 with or without polydactyly 11.3
20 short-rib thoracic dysplasia 15 with polydactyly 11.3
21 short-rib thoracic dysplasia 16 with or without polydactyly 11.3
22 short-rib thoracic dysplasia 17 with or without polydactyly 11.3
23 short-rib thoracic dysplasia 18 with polydactyly 11.3
24 short-rib thoracic dysplasia 19 with or without polydactyly 11.1
25 short-rib thoracic dysplasia 20 with polydactyly 11.1
26 senior-loken syndrome 1 10.3 IFT140 TRAF3IP1 TTC21B WDR19
27 shwachman-diamond syndrome 1 10.1
28 hepatitis 10.1
29 retinitis 10.1
30 nephronophthisis 10.1 IFT172 TRAF3IP1 TTC21B WDR19
31 hirschsprung disease 1 9.9
32 spondyloepiphyseal dysplasia with congenital joint dislocations 9.9
33 retinal aplasia 9.9
34 peroxisome biogenesis disorder 1a 9.9
35 hydrocephalus 9.9
36 rickets 9.9
37 respiratory failure 9.9
38 tuberous sclerosis 9.9
39 pancreatitis 9.9
40 type i 9.9
41 dandy-walker complex 9.9
42 skeletal dysplasias 9.9
43 cranioectodermal dysplasia 1 9.9 DYNC2H1 IFT140 IFT52 IFT80 TRAF3IP1 TTC21B
44 cleft lip/palate 8.9 CEP120 DYNC2H1 DYNC2LI1 IFT140 IFT172 IFT52

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



Diseases related to Asphyxiating Thoracic Dystrophy
Sources

Symptoms & Phenotypes for Asphyxiating Thoracic Dystrophy

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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 10.29 TTC21B WDR19 WDR35 CEP120 DYNC2H1 DYNC2LI1
2 mortality/aging MP:0010768 10.2 NEK1 TRAF3IP1 WDR19 WDR35 CEP120 DYNC2H1
3 growth/size/body region MP:0005378 10.18 CEP120 DYNC2H1 DYNC2LI1 EVC2 IFT140 IFT172
4 embryo MP:0005380 10.17 IFT140 IFT172 KIAA0586 KIAA0753 TRAF3IP1 TTC21B
5 craniofacial MP:0005382 10.16 DYNC2H1 EVC2 IFT140 IFT172 IFT80 KIAA0586
6 limbs/digits/tail MP:0005371 10.15 TRAF3IP1 TTC21B WDR19 WDR35 DYNC2H1 DYNC2LI1
7 nervous system MP:0003631 10 CEP120 DYNC2H1 DYNC2LI1 IFT140 IFT172 KIAA0586
8 skeleton MP:0005390 9.73 DYNC2H1 EVC2 IFT140 IFT172 IFT80 KIAA0586
9 renal/urinary system MP:0005367 9.7 IFT80 LBR NEK1 TTC21B DYNC2H1 IFT140
10 vision/eye MP:0005391 9.17 DYNC2H1 IFT140 IFT172 IFT80 LBR TRAF3IP1
Sources

Drugs & Therapeutics for Asphyxiating Thoracic Dystrophy

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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

Sources

Genetic Tests for Asphyxiating Thoracic Dystrophy

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Genetic tests related to Asphyxiating Thoracic Dystrophy:

# Genetic test Affiliating Genes
1 Jeune Thoracic Dystrophy 29
Sources

Anatomical Context for Asphyxiating Thoracic Dystrophy

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MalaCards organs/tissues related to Asphyxiating Thoracic Dystrophy:

41
Lung, Bone, Spinal Cord
Sources

Publications for Asphyxiating Thoracic Dystrophy

About this section

Articles related to Asphyxiating Thoracic Dystrophy:

(show top 50) (show all 82)
# 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
Hepatic manifestations of Jeune syndrome (asphyxiating thoracic dystrophy). ( 12800072 )
2003
29
Asphyxiating thoracic dystrophy and syndactyly of the toes in a newborn: coincidence or a new association? ( 12725597 )
2003
30
A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13. ( 12807964 )
2003
31
Long-term follow-up of asphyxiating thoracic dystrophy: results of first report of thoracoplasty. ( 12643436 )
2002
32
Dynamic thoracoplasty for asphyxiating thoracic dystrophy. ( 11722089 )
2001
33
Dandy-Walker complex in a child with Jeune's asphyxiating thoracic dystrophy. ( 10876833 )
2000
34
Jeune asphyxiating thoracic dystrophy and short-rib polydactyly type III (Verma-Naumoff) are variants of the same disorder. ( 10710229 )
2000
35
Exclusion of the Ellis-van Creveld region on chromosome 4p16 in some families with asphyxiating thoracic dystrophy and short-rib polydactyly syndromes. ( 10951528 )
2000
36
Homologous bone graft for expansion thoracoplasty in Jeune's asphyxiating thoracic dystrophy. ( 10211668 )
1999
37
Prenatal sonographic findings associated with asphyxiating thoracic dystrophy (Jeune syndrome). ( 10447085 )
1999
38
Jeune syndrome (asphyxiating thoracic dystrophy) associated with Hirschsprung disease. ( 10532174 )
1999
39
Jeune's asphyxiating thoracic dystrophy of the newborn. ( 9617610 )
1998
40
Operative management of asphyxiating thoracic dystrophy after pectus repair. ( 9498398 )
1998
41
Chest reconstruction in asphyxiating thoracic dystrophy. ( 9802821 )
1998
42
Asphyxiating thoracic dystrophy. ( 8613294 )
1995
43
Del(12)(p11.21p12.2) associated with an asphyxiating thoracic dystrophy or chondroectodermal dysplasia-like syndrome. ( 7702088 )
1995
44
Asphyxiating thoracic dystrophy (Jeune's disease): a case report. ( 8055771 )
1994
45
Asphyxiating thoracic dystrophy: surgical correction and 2-year follow-up in a girl. ( 8086645 )
1994
46
A case of Jeune syndrome (asphyxiating thoracic dystrophy). ( 17586875 )
1994
47
Asphyxiating thoracic dystrophy without respiratory disease. ( 8210547 )
1993
48
Shwachman's syndrome: unusual presentation as congenital rickets and asphyxiating thoracic dystrophy. ( 1849310 )
1991
49
Clinical quiz. Asphyxiating thoracic dystrophy (Jeune syndrome). ( 2242331 )
1990
50
Stenosis of the foramen magnum and rostral spinal canal, with spinal cord deformity, in Jeune's asphyxiating thoracic dystrophy. ( 2748491 )
1989
Sources

Variations for Asphyxiating Thoracic Dystrophy

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ClinVar genetic disease variations for Asphyxiating Thoracic Dystrophy:

6
(show top 50) (show all 1028)
# Gene Variation Type Significance SNP ID Assembly Location
1 IFT140 NM_014714.3(IFT140): c.634G> A (p.Gly212Arg) single nucleotide variant Pathogenic rs201188361 GRCh37 Chromosome 16, 1642177: 1642177
2 IFT140 NM_014714.3(IFT140): c.634G> A (p.Gly212Arg) single nucleotide variant Pathogenic rs201188361 GRCh38 Chromosome 16, 1592176: 1592176
3 IFT140 NM_014714.3(IFT140): c.3916dupG (p.Ala1306Glyfs) duplication Pathogenic rs587776909 GRCh38 Chromosome 16, 1520005: 1520005
4 IFT140 NM_014714.3(IFT140): c.3916dupG (p.Ala1306Glyfs) duplication Pathogenic rs587776909 GRCh37 Chromosome 16, 1570006: 1570006
5 DYNC2H1 NM_001080463.1(DYNC2H1): c.988C> T (p.Arg330Cys) single nucleotide variant Pathogenic rs397514637 GRCh37 Chromosome 11, 102988581: 102988581
6 DYNC2H1 NM_001080463.1(DYNC2H1): c.988C> T (p.Arg330Cys) single nucleotide variant Pathogenic rs397514637 GRCh38 Chromosome 11, 103117852: 103117852
7 WDR35 NM_001006657.1(WDR35): c.1922T> G (p.Leu641Ter) single nucleotide variant Pathogenic/Likely pathogenic rs199952377 GRCh37 Chromosome 2, 20141557: 20141557
8 WDR35 NM_001006657.1(WDR35): c.1922T> G (p.Leu641Ter) single nucleotide variant Pathogenic/Likely pathogenic rs199952377 GRCh38 Chromosome 2, 19941796: 19941796
9 WDR34 NM_052844.3(WDR34): c.1177G> A (p.Gly393Ser) single nucleotide variant Pathogenic rs587777096 GRCh37 Chromosome 9, 131397005: 131397005
10 WDR34 NM_052844.3(WDR34): c.1177G> A (p.Gly393Ser) single nucleotide variant Pathogenic rs587777096 GRCh38 Chromosome 9, 128634726: 128634726
11 IFT140 NM_014714.3(IFT140): c.874G> A (p.Val292Met) single nucleotide variant Pathogenic rs431905521 GRCh37 Chromosome 16, 1637962: 1637962
12 IFT140 NM_014714.3(IFT140): c.874G> A (p.Val292Met) single nucleotide variant Pathogenic rs431905521 GRCh38 Chromosome 16, 1587961: 1587961
13 IFT140 NM_014714.3(IFT140): c.1565G> A (p.Gly522Glu) single nucleotide variant Pathogenic rs199826737 GRCh37 Chromosome 16, 1621495: 1621495
14 IFT140 NM_014714.3(IFT140): c.1565G> A (p.Gly522Glu) single nucleotide variant Pathogenic rs199826737 GRCh38 Chromosome 16, 1571494: 1571494
15 IFT140 NM_014714.3(IFT140): c.1380delC (p.Asn460Lysfs) deletion Pathogenic rs431905522 GRCh37 Chromosome 16, 1633367: 1633367
16 IFT140 NM_014714.3(IFT140): c.1380delC (p.Asn460Lysfs) deletion Pathogenic rs431905522 GRCh38 Chromosome 16, 1583366: 1583366
17 WDR19 NM_025132.3(WDR19): c.3565+1G> A single nucleotide variant Pathogenic rs587777352 GRCh37 Chromosome 4, 39274682: 39274682
18 WDR19 NM_025132.3(WDR19): c.3565+1G> A single nucleotide variant Pathogenic rs587777352 GRCh38 Chromosome 4, 39273062: 39273062
19 DYNC2H1 NM_001080463.1(DYNC2H1): c.5821G> C (p.Ala1941Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs368058473 GRCh37 Chromosome 11, 103047110: 103047110
20 DYNC2H1 NM_001080463.1(DYNC2H1): c.5821G> C (p.Ala1941Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs368058473 GRCh38 Chromosome 11, 103176381: 103176381
21 DYNC2H1 NM_001080463.1(DYNC2H1): c.5695G> A (p.Val1899Ile) single nucleotide variant Uncertain significance rs150887098 GRCh37 Chromosome 11, 103046984: 103046984
22 DYNC2H1 NM_001080463.1(DYNC2H1): c.5695G> A (p.Val1899Ile) single nucleotide variant Uncertain significance rs150887098 GRCh38 Chromosome 11, 103176255: 103176255
23 WDR19 NM_025132.3(WDR19): c.2792A> C (p.Tyr931Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs187546086 GRCh37 Chromosome 4, 39254828: 39254828
24 WDR19 NM_025132.3(WDR19): c.2792A> C (p.Tyr931Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs187546086 GRCh38 Chromosome 4, 39253208: 39253208
25 DYNC2H1 NM_001080463.1(DYNC2H1): c.5718C> A (p.Thr1906=) single nucleotide variant Benign rs585692 GRCh37 Chromosome 11, 103047007: 103047007
26 DYNC2H1 NM_001080463.1(DYNC2H1): c.5718C> A (p.Thr1906=) single nucleotide variant Benign rs585692 GRCh38 Chromosome 11, 103176278: 103176278
27 DYNC2H1 NM_001080463.1(DYNC2H1): c.2860G> A (p.Glu954Lys) single nucleotide variant Benign/Likely benign rs61898615 GRCh37 Chromosome 11, 103019260: 103019260
28 DYNC2H1 NM_001080463.1(DYNC2H1): c.2860G> A (p.Glu954Lys) single nucleotide variant Benign/Likely benign rs61898615 GRCh38 Chromosome 11, 103148531: 103148531
29 DYNC2H1 NM_001080463.1(DYNC2H1): c.3500A> G (p.His1167Arg) single nucleotide variant Uncertain significance rs185613200 GRCh37 Chromosome 11, 103025465: 103025465
30 DYNC2H1 NM_001080463.1(DYNC2H1): c.3500A> G (p.His1167Arg) single nucleotide variant Uncertain significance rs185613200 GRCh38 Chromosome 11, 103154736: 103154736
31 DYNC2H1 NM_001080463.1(DYNC2H1): c.3995T> G (p.Leu1332Arg) single nucleotide variant Uncertain significance rs786204078 GRCh37 Chromosome 11, 103027367: 103027367
32 DYNC2H1 NM_001080463.1(DYNC2H1): c.3995T> G (p.Leu1332Arg) single nucleotide variant Uncertain significance rs786204078 GRCh38 Chromosome 11, 103156638: 103156638
33 DYNC2H1 NM_001080463.1(DYNC2H1): c.10258C> G (p.Pro3420Ala) single nucleotide variant Uncertain significance rs786204223 GRCh38 Chromosome 11, 103255445: 103255445
34 DYNC2H1 NM_001080463.1(DYNC2H1): c.10258C> G (p.Pro3420Ala) single nucleotide variant Uncertain significance rs786204223 GRCh37 Chromosome 11, 103126174: 103126174
35 DYNC2H1 NM_001080463.1(DYNC2H1): c.12577G> A (p.Glu4193Lys) single nucleotide variant Uncertain significance rs764491760 GRCh38 Chromosome 11, 103455285: 103455285
36 DYNC2H1 NM_001080463.1(DYNC2H1): c.12577G> A (p.Glu4193Lys) single nucleotide variant Uncertain significance rs764491760 GRCh37 Chromosome 11, 103326013: 103326013
37 DYNC2H1 NM_001080463.1(DYNC2H1): c.33C> T (p.Leu11=) single nucleotide variant Uncertain significance rs373977008 GRCh37 Chromosome 11, 102980336: 102980336
38 DYNC2H1 NM_001080463.1(DYNC2H1): c.33C> T (p.Leu11=) single nucleotide variant Uncertain significance rs373977008 GRCh38 Chromosome 11, 103109607: 103109607
39 IFT80 NM_020800.2(IFT80): c.1076C> T (p.Ser359Phe) single nucleotide variant Benign/Likely benign rs144099135 GRCh37 Chromosome 3, 160025451: 160025451
40 IFT80 NM_020800.2(IFT80): c.1076C> T (p.Ser359Phe) single nucleotide variant Benign/Likely benign rs144099135 GRCh38 Chromosome 3, 160307663: 160307663
41 DYNC2H1 NM_001080463.1(DYNC2H1): c.2005A> G (p.Lys669Glu) single nucleotide variant Uncertain significance rs189533535 GRCh37 Chromosome 11, 103004335: 103004335
42 DYNC2H1 NM_001080463.1(DYNC2H1): c.2005A> G (p.Lys669Glu) single nucleotide variant Uncertain significance rs189533535 GRCh38 Chromosome 11, 103133606: 103133606
43 TTC21B NM_024753.4(TTC21B): c.1697A> G (p.His566Arg) single nucleotide variant Uncertain significance rs146320075 GRCh37 Chromosome 2, 166773969: 166773969
44 TTC21B NM_024753.4(TTC21B): c.1697A> G (p.His566Arg) single nucleotide variant Uncertain significance rs146320075 GRCh38 Chromosome 2, 165917459: 165917459
45 IFT80 NM_020800.2(IFT80): c.1883G> A (p.Arg628Gln) single nucleotide variant Uncertain significance rs150370681 GRCh37 Chromosome 3, 159995412: 159995412
46 IFT80 NM_020800.2(IFT80): c.1883G> A (p.Arg628Gln) single nucleotide variant Uncertain significance rs150370681 GRCh38 Chromosome 3, 160277624: 160277624
47 TTC21B NM_024753.4(TTC21B): c.2569-5dupT duplication Benign/Likely benign rs144600502 GRCh37 Chromosome 2, 166758425: 166758425
48 TTC21B NM_024753.4(TTC21B): c.2569-5dupT duplication Benign/Likely benign rs144600502 GRCh38 Chromosome 2, 165901915: 165901915
49 TTC21B NM_024753.4(TTC21B): c.2587C> T (p.Arg863Trp) single nucleotide variant Uncertain significance rs34489989 GRCh37 Chromosome 2, 166758402: 166758402
50 TTC21B NM_024753.4(TTC21B): c.2587C> T (p.Arg863Trp) single nucleotide variant Uncertain significance rs34489989 GRCh38 Chromosome 2, 165901892: 165901892
Sources

Expression for Asphyxiating Thoracic Dystrophy

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

Pathways for Asphyxiating Thoracic Dystrophy

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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
Signaling by Hedgehog 66
Show member pathways
 12.3 DYNC2H1 EVC2 IFT140 IFT172 IFT52 TTC21B
2
Organelle biogenesis and maintenance 66
Show member pathways
 12.16 DYNC2H1 DYNC2LI1 IFT140 IFT172 IFT52 IFT80
3
Intraflagellar transport 66
11.38 DYNC2H1 DYNC2LI1 IFT140 IFT172 IFT52 IFT80
Sources

GO Terms for Asphyxiating Thoracic Dystrophy

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 ciliary basal body GO:0036064 9.95 DYNC2LI1 IFT140 IFT172 KIAA0586 TRAF3IP1 WDR34
2 centriole GO:0005814 9.93 CEP120 IFT52 KIAA0586 KIAA0753 WDR34
3 axoneme GO:0005930 9.92 DYNC2H1 DYNC2LI1 IFT140 IFT172 TCTEX1D2 TRAF3IP1
4 motile cilium GO:0031514 9.85 DYNC2H1 DYNC2LI1 IFT52 WDR19
5 dynein complex GO:0030286 9.83 DYNC2H1 DYNC2LI1 WDR34 WDR60
6 cytoplasmic dynein complex GO:0005868 9.83 DYNC2H1 DYNC2LI1 TCTEX1D2 WDR34 WDR60
7 ciliary base GO:0097546 9.8 IFT52 TCTEX1D2 TRAF3IP1 WDR60
8 intraciliary transport particle B GO:0030992 9.78 IFT172 IFT52 IFT80 TRAF3IP1
9 cilium GO:0005929 9.77 DYNC2H1 DYNC2LI1 EVC2 IFT140 IFT172 IFT52
10 intraciliary transport particle A GO:0030991 9.76 IFT140 TTC21B WDR19 WDR35
11 photoreceptor connecting cilium GO:0032391 9.74 IFT140 IFT52 WDR19
12 ciliary transition zone GO:0035869 9.6 DYNC2LI1 TRAF3IP1
13 non-motile cilium GO:0097730 9.59 IFT140 WDR19
14 pericentriolar material GO:0000242 9.58 NEK1 WDR60
15 interphase microtubule organizing center GO:0031021 9.56 TCTEX1D2 WDR60
16 ciliary tip GO:0097542 9.4 DYNC2H1 DYNC2LI1 IFT140 IFT172 IFT52 IFT80
17 cytoplasm GO:0005737 10.42 CEP120 DYNC2H1 DYNC2LI1 EVC2 IFT140 IFT80
18 cytoskeleton GO:0005856 10.21 CEP120 DYNC2H1 DYNC2LI1 EVC2 IFT140 IFT80
19 microtubule organizing center GO:0005815 10.05 CEP120 DYNC2LI1 IFT140 KIAA0586 KIAA0753 NEK1
20 centrosome GO:0005813 10.03 CEP120 DYNC2LI1 IFT140 IFT52 IFT80 KIAA0586
21 cell projection GO:0042995 10 DYNC2H1 DYNC2LI1 EVC2 IFT140 IFT172 IFT52

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 determination of left/right symmetry GO:0007368 9.8 DYNC2H1 DYNC2LI1 IFT140 IFT172 IFT52
2 smoothened signaling pathway GO:0007224 9.8 EVC2 IFT172 IFT52 KIAA0586 TTC21B WDR19
3 non-motile cilium assembly GO:1905515 9.76 DYNC2H1 IFT140 IFT172 IFT52
4 microtubule-based movement GO:0007018 9.74 DYNC2H1 WDR34 WDR60
5 protein localization to cilium GO:0061512 9.73 DYNC2H1 IFT140 TTC21B WDR35
6 intraciliary retrograde transport GO:0035721 9.73 DYNC2H1 DYNC2LI1 IFT140 TTC21B WDR19 WDR35
7 intraciliary transport involved in cilium assembly GO:0035735 9.73 DYNC2H1 DYNC2LI1 IFT140 IFT172 IFT52 IFT80
8 embryonic digit morphogenesis GO:0042733 9.72 IFT140 IFT52 TRAF3IP1
9 dorsal/ventral pattern formation GO:0009953 9.7 DYNC2H1 IFT172 IFT52
10 regulation of cilium assembly GO:1902017 9.69 DYNC2LI1 IFT140 TCTEX1D2
11 regulation of smoothened signaling pathway GO:0008589 9.67 IFT140 IFT172 TTC21B
12 intraciliary transport GO:0042073 9.67 IFT140 IFT52 TRAF3IP1 WDR34
13 embryonic camera-type eye development GO:0031076 9.65 IFT140 TRAF3IP1 WDR19
14 embryonic cranial skeleton morphogenesis GO:0048701 9.58 IFT140 WDR19
15 positive regulation of smoothened signaling pathway GO:0045880 9.58 DYNC2H1 IFT172
16 spinal cord motor neuron differentiation GO:0021522 9.56 DYNC2H1 IFT172
17 neural tube patterning GO:0021532 9.54 IFT140 TRAF3IP1
18 cell projection organization GO:0030030 9.32 DYNC2H1 DYNC2LI1 IFT140 IFT52 KIAA0586 NEK1
19 cilium assembly GO:0060271 10 DYNC2H1 DYNC2LI1 IFT140 IFT172 IFT52 IFT80

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

# Name GO ID Score Top Affiliating Genes
1 ATP-dependent microtubule motor activity, plus-end-directed GO:0008574 9.32 WDR34 WDR60
2 dynein intermediate chain binding GO:0045505 9.26 DYNC2H1 TCTEX1D2
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

Sources for Asphyxiating Thoracic Dystrophy

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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