Aliases & Classifications for Asphyxiating Thoracic Dystrophy

MalaCards integrated aliases for Asphyxiating Thoracic Dystrophy:

Name: Asphyxiating Thoracic Dystrophy 12 24 36 14
Jeune Thoracic Dystrophy 24 28 69
Jeune Syndrome 12 24
Short-Rib Thoracic Dysplasia with or Without Polydactyly 12
Chondroectodermal Dysplasia-Like Syndrome 24
Asphyxiating Thoracic Chondrodystrophy 24
Thoracic-Pelvic-Phalangeal Dystrophy 24
Thoracic Pelvic Phalangeal Dystrophy 12
Asphyxiating Thoracic Dysplasia 24
Thoracic Asphyxiant Dystrophy 24
Infantile Thoracic Dystrophy 24
Jeune Thoracic Dysplasia 24
Atd 24

Classifications:



External Ids:

Disease Ontology 12 DOID:0050592
ICD10 32 Q77.2
KEGG 36 H00751
UMLS 69 C0265275

Summaries for Asphyxiating Thoracic Dystrophy

Genetics Home Reference : 24 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 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 Phagosome and Vasopressin-regulated water reabsorption. Affiliated tissues include lung, bone and spinal cord, and related phenotypes are cellular and craniofacial

Wikipedia : 72 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 all 46)
# Related Disease Score Top Affiliating Genes
1 joubert syndrome with jeune asphyxiating thoracic dystrophy 33.8 CSPP1 KIAA0586
2 short-rib thoracic dysplasia 3 with or without polydactyly 32.7 DYNC2H1 EVC2 IFT80 NEK1 TCTEX1D2 TTC21B
3 short-rib thoracic dysplasia 9 with or without polydactyly 32.6 IFT140 IFT172
4 short-rib thoracic dysplasia 6 with or without polydactyly 32.0 DYNC2H1 EVC2 IFT80 NEK1 TRAF3IP1 TTC21B
5 short-rib thoracic dysplasia 1 with or without polydactyly 31.9 ATD CEP120 DYNC2H1 EVC2 IFT140 IFT172
6 short-rib thoracic dysplasia 12 31.9 EVC2 IFT80 NEK1 TTC21B WDR19
7 polydactyly 30.7 DYNC2H1 NEK1 WDR34 WDR35 WDR60
8 meckel syndrome, type 1 30.0 CEP120 CSPP1 RPGRIP1L
9 joubert syndrome 1 30.0 CEP120 CSPP1 IFT140 IFT172 KIAA0586 RPGRIP1L
10 ciliopathy 29.9 CEP120 IFT140 KIAA0586 RPGRIP1L TTC21B WDR19
11 ellis-van creveld syndrome 29.2 DYNC2H1 EVC2 IFT140 IFT80 KIAA0586 NEK1
12 short-rib thoracic dysplasia 2 with or without polydactyly 12.4
13 short-rib thoracic dysplasia 4 with or without polydactyly 12.3
14 short-rib thoracic dysplasia 5 with or without polydactyly 12.3
15 short-rib thoracic dysplasia 10 with or without polydactyly 11.7
16 short-rib thoracic dysplasia 7 with or without polydactyly 11.4
17 short-rib thoracic dysplasia 8 with or without polydactyly 11.4
18 short-rib thoracic dysplasia 11 with or without polydactyly 11.4
19 short-rib thoracic dysplasia 14 with polydactyly 11.4
20 benallegue lacete syndrome 11.3
21 short-rib thoracic dysplasia 13 with or without polydactyly 11.3
22 short-rib thoracic dysplasia 15 with polydactyly 11.3
23 short-rib thoracic dysplasia 16 with or without polydactyly 11.3
24 short-rib thoracic dysplasia 17 with or without polydactyly 11.3
25 short-rib thoracic dysplasia 18 with polydactyly 11.1
26 senior-loken syndrome 1 10.2 IFT140 TRAF3IP1 TTC21B WDR19
27 nephronophthisis 16 10.2 TTC21B WDR19
28 shwachman-diamond syndrome 10.1
29 hepatitis 10.1
30 retinitis 10.1
31 nephronophthisis 10.0 IFT172 RPGRIP1L TRAF3IP1 TTC21B WDR19
32 cranioectodermal dysplasia 1 10.0 DYNC2H1 IFT140 IFT80 TRAF3IP1 TTC21B WDR19
33 fibrosis of extraocular muscles, congenital, 1 9.9
34 hirschsprung disease 1 9.9
35 spondyloepiphyseal dysplasia with congenital joint dislocations 9.9
36 retinal aplasia 9.9
37 chromosome 2q35 duplication syndrome 9.9
38 peroxisome biogenesis disorder 1a 9.9
39 hydrocephalus 9.9
40 rickets 9.9
41 tuberous sclerosis 9.9
42 bilirubin metabolic disorder 9.9
43 pancreatitis 9.9
44 dandy-walker complex 9.9
45 skeletal dysplasias 9.9
46 cleft lip/palate 9.5 CEP120 DYNC2H1 IFT140 IFT172 IFT80 KIAA0586

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:

43 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.31 KIAA0586 TRAF3IP1 LBR TTC21B WDR19 CEP120
2 craniofacial MP:0005382 10.22 KIAA0586 LBR TTC21B NEK1 WDR19 RPGRIP1L
3 limbs/digits/tail MP:0005371 10.18 TRAF3IP1 LBR TTC21B WDR19 RPGRIP1L KIAA0586
4 mortality/aging MP:0010768 10.17 KIAA0586 TRAF3IP1 LBR NEK1 WDR19 RPGRIP1L
5 growth/size/body region MP:0005378 10.14 RPGRIP1L KIAA0586 LBR NEK1 IFT80 CEP120
6 embryo MP:0005380 10.13 KIAA0586 TRAF3IP1 TTC21B WDR19 RPGRIP1L CEP120
7 digestive/alimentary MP:0005381 10 RPGRIP1L LBR IFT140 DYNC2H1 IFT172 WDR19
8 nervous system MP:0003631 10 RPGRIP1L KIAA0586 TRAF3IP1 LBR TTC21B NEK1
9 renal/urinary system MP:0005367 9.81 LBR TTC21B NEK1 RPGRIP1L IFT140 DYNC2H1
10 skeleton MP:0005390 9.8 TCTEX1D2 LBR TTC21B NEK1 WDR19 RPGRIP1L
11 vision/eye MP:0005391 9.23 RPGRIP1L TRAF3IP1 LBR IFT80 IFT140 DYNC2H1

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 28

Anatomical Context for Asphyxiating Thoracic Dystrophy

MalaCards organs/tissues related to Asphyxiating Thoracic Dystrophy:

38
Lung, Bone, Spinal Cord

Publications for Asphyxiating Thoracic Dystrophy

Articles related to Asphyxiating Thoracic Dystrophy:

(show top 50) (show all 81)
# 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
A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies. ( 25361962 )
2014
6
One-stage sequential bilateral thoracic expansion for asphyxiating thoracic dystrophy (Jeune syndrome). ( 24599166 )
2014
7
Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy. ( 24360808 )
2014
8
Prenatal ultrasound and MRI Diagnosis of Jeune syndrome type I (asphyxiating thoracic dystrophy) with histology and post-mortem three-dimensional CT confirmation. ( 22594482 )
2013
9
Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome. ( 23315050 )
2013
10
Jeune syndrome: considerations for management of asphyxiating thoracic dystrophy. ( 23985472 )
2013
11
Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement. ( 23456818 )
2013
12
Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. ( 24183451 )
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
Clinical insights gained from eight new cases and review of reported cases with Jeune syndrome (asphyxiating thoracic dystrophy). ( 21465651 )
2011
16
Lateral thoracic expansion in a preterm baby with asphyxiating thoracic dystrophy. ( 21243577 )
2011
17
Co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy. ( 20503315 )
2010
18
The Nuss technique for Jeune asphyxiating thoracic dystrophy repair in siblings. ( 20606585 )
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
IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy. ( 17468754 )
2007
24
The prenatal detection of Jeune syndrome (asphyxiating thoracic dystrophy). Case report. ( 19292094 )
2006
25
Asphyxiating thoracic dystrophy with facial dysmorphism. ( 17202643 )
2006
26
Further experience with the operative management of asphyxiating thoracic dystrophy after pectus repair. ( 15868580 )
2005
27
A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13. ( 12807964 )
2003
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
Long-term follow-up of asphyxiating thoracic dystrophy: results of first report of thoracoplasty. ( 12643436 )
2002
31
Dynamic thoracoplasty for asphyxiating thoracic dystrophy. ( 11722089 )
2001
32
Exclusion of the Ellis-van Creveld region on chromosome 4p16 in some families with asphyxiating thoracic dystrophy and short-rib polydactyly syndromes. ( 10951528 )
2000
33
Jeune asphyxiating thoracic dystrophy and short-rib polydactyly type III (Verma-Naumoff) are variants of the same disorder. ( 10710229 )
2000
34
Dandy-Walker complex in a child with Jeune's asphyxiating thoracic dystrophy. ( 10876833 )
2000
35
Prenatal sonographic findings associated with asphyxiating thoracic dystrophy (Jeune syndrome). ( 10447085 )
1999
36
Homologous bone graft for expansion thoracoplasty in Jeune's asphyxiating thoracic dystrophy. ( 10211668 )
1999
37
Jeune syndrome (asphyxiating thoracic dystrophy) associated with Hirschsprung disease. ( 10532174 )
1999
38
Operative management of asphyxiating thoracic dystrophy after pectus repair. ( 9498398 )
1998
39
Jeune's asphyxiating thoracic dystrophy of the newborn. ( 9617610 )
1998
40
Chest reconstruction in asphyxiating thoracic dystrophy. ( 9802821 )
1998
41
Del(12)(p11.21p12.2) associated with an asphyxiating thoracic dystrophy or chondroectodermal dysplasia-like syndrome. ( 7702088 )
1995
42
Asphyxiating thoracic dystrophy. ( 8613294 )
1995
43
A case of Jeune syndrome (asphyxiating thoracic dystrophy). ( 17586875 )
1994
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
Asphyxiating thoracic dystrophy without respiratory disease. ( 8210547 )
1993
47
Shwachman's syndrome: unusual presentation as congenital rickets and asphyxiating thoracic dystrophy. ( 1849310 )
1991
48
Clinical quiz. Asphyxiating thoracic dystrophy (Jeune syndrome). ( 2242331 )
1990
49
Stenosis of the foramen magnum and rostral spinal canal, with spinal cord deformity, in Jeune's asphyxiating thoracic dystrophy. ( 2748491 )
1989
50
Hydrocephalus in asphyxiating thoracic dystrophy. ( 3354611 )
1988

Variations for Asphyxiating Thoracic Dystrophy

ClinVar genetic disease variations for Asphyxiating Thoracic Dystrophy:

6 (show top 50) (show all 87)
# 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.3916dupG (p.Ala1306Glyfs) duplication Pathogenic rs587776909 GRCh38 Chromosome 16, 1520005: 1520005
3 DYNC2H1 NM_001080463.1(DYNC2H1): c.988C> T (p.Arg330Cys) single nucleotide variant Pathogenic rs397514637 GRCh37 Chromosome 11, 102988581: 102988581
4 WDR35 NM_001006657.1(WDR35): c.1922T> G (p.Leu641Ter) single nucleotide variant Pathogenic/Likely pathogenic rs199952377 GRCh37 Chromosome 2, 20141557: 20141557
5 WDR34 NM_052844.3(WDR34): c.1177G> A (p.Gly393Ser) single nucleotide variant Pathogenic rs587777096 GRCh37 Chromosome 9, 131397005: 131397005
6 IFT140 NM_014714.3(IFT140): c.874G> A (p.Val292Met) single nucleotide variant Pathogenic rs431905521 GRCh37 Chromosome 16, 1637962: 1637962
7 IFT140 NM_014714.3(IFT140): c.1565G> A (p.Gly522Glu) single nucleotide variant Pathogenic rs199826737 GRCh37 Chromosome 16, 1621495: 1621495
8 IFT140 NM_014714.3(IFT140): c.1380delC (p.Asn460Lysfs) deletion Pathogenic rs431905522 GRCh37 Chromosome 16, 1633367: 1633367
9 WDR19 NM_025132.3(WDR19): c.3565+1G> A single nucleotide variant Pathogenic rs587777352 GRCh37 Chromosome 4, 39274682: 39274682
10 EVC2 NM_147127.4(EVC2): c.3405_3411delCGGGGCC (p.Gly1136Argfs) deletion Pathogenic rs750396637 GRCh37 Chromosome 4, 5570317: 5570323
11 DYNC2H1 NM_001080463.1(DYNC2H1): c.3353delG (p.Ser1118Ilefs) deletion Pathogenic rs755338872 GRCh37 Chromosome 11, 103025230: 103025230
12 TTC21B NM_024753.4(TTC21B): c.684G> A (p.Trp228Ter) single nucleotide variant Pathogenic rs777162250 GRCh38 Chromosome 2, 165941053: 165941053
13 DYNC2H1 NM_001080463.1(DYNC2H1): c.1757T> G (p.Val586Gly) single nucleotide variant Pathogenic rs864622357 GRCh38 Chromosome 11, 103125195: 103125195
14 DYNC2H1 NM_001080463.1(DYNC2H1): c.2702+1G> A single nucleotide variant Pathogenic rs864622358 GRCh38 Chromosome 11, 103143396: 103143396
15 DYNC2H1 NM_001080463.1(DYNC2H1): c.5495C> A (p.Ser1832Ter) single nucleotide variant Pathogenic rs754919042 GRCh38 Chromosome 11, 103173242: 103173242
16 IFT140 NM_014714.3(IFT140): c.1010-1G> A single nucleotide variant Pathogenic rs770185023 GRCh37 Chromosome 16, 1636277: 1636277
17 DYNC2H1 NM_001080463.1(DYNC2H1): c.10343T> C (p.Leu3448Pro) single nucleotide variant Pathogenic/Likely pathogenic rs771487311 GRCh38 Chromosome 11, 103255530: 103255530
18 DYNC2H1 NM_001080463.1(DYNC2H1): c.10606C> T (p.Arg3536Ter) single nucleotide variant Pathogenic rs562139820 GRCh38 Chromosome 11, 103257731: 103257731
19 DYNC2H1 NM_001080463.1(DYNC2H1): c.5547delC (p.Phe1849Leufs) deletion Pathogenic rs771003300 GRCh38 Chromosome 11, 103173294: 103173294
20 DYNC2H1 NM_001080463.1(DYNC2H1): c.5983G> A (p.Ala1995Thr) single nucleotide variant Pathogenic/Likely pathogenic rs552436294 GRCh37 Chromosome 11, 103048393: 103048393
21 DYNC2H1 NM_001377.2(DYNC2H1): c.1953G> A (p.Lys651=) single nucleotide variant Pathogenic GRCh37 Chromosome 11, 102999734: 102999734
22 LBR NM_002296.3(LBR): c.1174G> A (p.Gly392Arg) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 225411351: 225411351
23 WDR35 NM_001006657.1(WDR35): c.2522A> T (p.Asp841Val) single nucleotide variant Pathogenic GRCh38 Chromosome 2, 19935529: 19935529
24 WDR35 NM_001006657.1(WDR35): c.1433+3A> G single nucleotide variant Pathogenic rs776631281 GRCh37 Chromosome 2, 20153592: 20153592
25 WDR35 NM_001006657.1(WDR35): c.932G> T (p.Trp311Leu) single nucleotide variant Pathogenic rs200649783 GRCh38 Chromosome 2, 19969556: 19969556
26 TRAF3IP1 NM_015650.3(TRAF3IP1): c.1358C> G (p.Ser453Cys) single nucleotide variant Pathogenic rs146820102 GRCh38 Chromosome 2, 238348839: 238348839
27 TRAF3IP1 NM_015650.3(TRAF3IP1): c.1368-1delG deletion Pathogenic rs764906529 GRCh38 Chromosome 2, 238349324: 238349324
28 IFT80 NM_020800.2(IFT80): c.1561C> T (p.Leu521Phe) single nucleotide variant Pathogenic GRCh38 Chromosome 3, 160280770: 160280770
29 IFT80 NM_020800.2(IFT80): c.572T> A (p.Ile191Asn) single nucleotide variant Pathogenic rs372576954 GRCh38 Chromosome 3, 160357556: 160357556
30 WDR19 NM_025132.3(WDR19): c.746T> C (p.Phe249Ser) single nucleotide variant Pathogenic GRCh37 Chromosome 4, 39207212: 39207212
31 WDR19 NM_025132.3(WDR19): c.781dup (p.Thr261Asnfs) duplication Pathogenic GRCh37 Chromosome 4, 39207247: 39207247
32 WDR19 NM_025132.3(WDR19): c.817A> G (p.Asn273Asp) single nucleotide variant Pathogenic rs375644378 GRCh37 Chromosome 4, 39207283: 39207283
33 WDR19 NM_025132.3(WDR19): c.880G> A (p.Gly294Arg) single nucleotide variant Pathogenic rs377160857 GRCh37 Chromosome 4, 39207346: 39207346
34 WDR19 NM_025132.3(WDR19): c.1483G> C (p.Gly495Arg) single nucleotide variant Pathogenic GRCh38 Chromosome 4, 39224887: 39224887
35 WDR19 NM_025132.3(WDR19): c.2563C> T (p.Gln855Ter) single nucleotide variant Pathogenic rs772599282 GRCh37 Chromosome 4, 39246090: 39246090
36 WDR19 NM_025132.3(WDR19): c.3716+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 4, 39274959: 39274959
37 WDR19 NM_025132.3(WDR19): c.3800G> A (p.Cys1267Tyr) single nucleotide variant Pathogenic rs745603321 GRCh38 Chromosome 4, 39277103: 39277103
38 EVC2 NM_147127.4(EVC2): c.3360+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 4, 5576411: 5576411
39 EVC2 NM_147127.4(EVC2): c.1713dup (p.Asn572Glufs) duplication Pathogenic GRCh38 Chromosome 4, 5628732: 5628732
40 EVC2 NM_147127.4(EVC2): c.619G> T (p.Asp207Tyr) single nucleotide variant Pathogenic rs761707323 GRCh38 Chromosome 4, 5689244: 5689244
41 WDR60 NM_018051.4(WDR60): c.2305G> A (p.Glu769Lys) single nucleotide variant Pathogenic rs193204571 GRCh38 Chromosome 7, 158926234: 158926234
42 WDR34 NM_052844.3(WDR34): c.1567_1582del16 (p.Glu523Thrfs) deletion Pathogenic GRCh37 Chromosome 9, 131396052: 131396067
43 WDR34 NM_052844.3(WDR34): c.1480C> T (p.Gln494Ter) single nucleotide variant Pathogenic rs751323441 GRCh38 Chromosome 9, 128633875: 128633875
44 WDR34 NM_052844.3(WDR34): c.935T> C (p.Phe312Ser) single nucleotide variant Pathogenic GRCh38 Chromosome 9, 128635138: 128635138
45 WDR34 NM_052844.3(WDR34): c.544C> T (p.Arg182Trp) single nucleotide variant Pathogenic rs555811074 GRCh38 Chromosome 9, 128636919: 128636919
46 DYNC2H1 NM_001080463.1(DYNC2H1): c.625T> A (p.Phe209Ile) single nucleotide variant Pathogenic rs771511132 GRCh38 Chromosome 11, 103116573: 103116573
47 DYNC2H1 NM_001080463.1(DYNC2H1): c.1151C> T (p.Ala384Val) single nucleotide variant Pathogenic rs369614706 GRCh38 Chromosome 11, 103120705: 103120705
48 DYNC2H1 NM_001080463.1(DYNC2H1): c.1289G> A (p.Arg430His) single nucleotide variant Pathogenic rs770380730 GRCh38 Chromosome 11, 103120965: 103120965
49 DYNC2H1 NM_001080463.1(DYNC2H1): c.1306G> T (p.Glu436Ter) single nucleotide variant Pathogenic rs371011047 GRCh38 Chromosome 11, 103120982: 103120982
50 DYNC2H1 NM_001080463.1(DYNC2H1): c.2225T> G (p.Met742Arg) single nucleotide variant Pathogenic rs774610143 GRCh38 Chromosome 11, 103135514: 103135514

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
12.46 DYNC2H1 IFT140 IFT172 IFT80 RPGRIP1L TCTEX1D2
2
Show member pathways
12.3 DYNC2H1 EVC2 IFT140 IFT172 RPGRIP1L TTC21B
3 10.98 DYNC2H1 IFT140 IFT172 IFT80 TCTEX1D2 TRAF3IP1

GO Terms for Asphyxiating Thoracic Dystrophy

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 ciliary basal body GO:0036064 9.95 IFT140 IFT172 KIAA0586 RPGRIP1L TRAF3IP1 WDR34
2 cytoplasmic dynein complex GO:0005868 9.76 DYNC2H1 TCTEX1D2 WDR34 WDR60
3 axoneme GO:0005930 9.76 DYNC2H1 IFT140 IFT172 RPGRIP1L TCTEX1D2 TRAF3IP1
4 spindle pole GO:0000922 9.75 CSPP1 TCTEX1D2 WDR60
5 centriole GO:0005814 9.74 CEP120 KIAA0586 WDR34
6 intraciliary transport particle A GO:0030991 9.73 IFT140 TTC21B WDR19 WDR35
7 cilium GO:0005929 9.73 DYNC2H1 EVC2 IFT140 IFT172 IFT80 RPGRIP1L
8 photoreceptor connecting cilium GO:0032391 9.71 IFT140 RPGRIP1L WDR19
9 ciliary base GO:0097546 9.69 TCTEX1D2 TRAF3IP1 WDR60
10 intraciliary transport particle B GO:0030992 9.67 IFT172 IFT80 TRAF3IP1
11 ciliary transition zone GO:0035869 9.59 RPGRIP1L TRAF3IP1
12 non-motile cilium GO:0097730 9.58 IFT140 WDR19
13 pericentriolar material GO:0000242 9.56 NEK1 WDR60
14 interphase microtubule organizing center GO:0031021 9.52 TCTEX1D2 WDR60
15 ciliary tip GO:0097542 9.32 DYNC2H1 IFT140 IFT172 IFT80 TRAF3IP1 TTC21B
16 cytoplasm GO:0005737 10.39 CEP120 CSPP1 DYNC2H1 EVC2 FMN1 IFT140
17 cytoskeleton GO:0005856 10.21 CEP120 CSPP1 DYNC2H1 EVC2 IFT140 IFT80
18 cell projection GO:0042995 10.07 DYNC2H1 EVC2 IFT140 IFT172 IFT80 KIAA0586
19 centrosome GO:0005813 10.06 CEP120 CSPP1 IFT140 IFT80 KIAA0586 NEK1
20 microtubule organizing center GO:0005815 10.02 CEP120 CSPP1 IFT140 KIAA0586 NEK1 RPGRIP1L

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 9.86 DYNC2H1 IFT140 KIAA0586 NEK1 TRAF3IP1 WDR19
2 smoothened signaling pathway GO:0007224 9.8 EVC2 IFT172 IFT80 KIAA0586 TTC21B WDR19
3 cilium assembly GO:0060271 9.77 DYNC2H1 IFT140 IFT172 IFT80 KIAA0586 NEK1
4 non-motile cilium assembly GO:1905515 9.73 IFT140 IFT172 IFT80 RPGRIP1L
5 determination of left/right symmetry GO:0007368 9.69 IFT140 IFT172 RPGRIP1L
6 intraciliary transport GO:0042073 9.67 IFT140 TRAF3IP1 WDR34
7 regulation of smoothened signaling pathway GO:0008589 9.67 IFT140 IFT172 RPGRIP1L TTC21B
8 protein localization to cilium GO:0061512 9.65 IFT140 TTC21B WDR35
9 embryonic camera-type eye development GO:0031076 9.63 IFT140 TRAF3IP1 WDR19
10 neural tube patterning GO:0021532 9.58 IFT140 RPGRIP1L TRAF3IP1
11 intraciliary retrograde transport GO:0035721 9.55 DYNC2H1 IFT140 TTC21B WDR19 WDR35
12 positive regulation of smoothened signaling pathway GO:0045880 9.54 IFT172 IFT80
13 limb morphogenesis GO:0035108 9.52 IFT140 RPGRIP1L
14 intraciliary transport involved in cilium assembly GO:0035735 9.32 DYNC2H1 IFT140 IFT172 IFT80 TRAF3IP1 TTC21B

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 9.26 DYNC2H1 TCTEX1D2
2 ATP-dependent microtubule motor activity, plus-end-directed GO:0008574 9.16 WDR34 WDR60
3 dynein heavy chain binding GO:0045504 8.96 WDR34 WDR60
4 dynein light chain binding GO:0045503 8.8 DYNC2H1 WDR34 WDR60

Sources for Asphyxiating Thoracic Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
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33 ICD10 via Orphanet
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36 KEGG
37 LifeMap
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58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
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67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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