MCID: ASP005
MIFTS: 53

Asphyxiating Thoracic Dystrophy

Categories: Rare diseases, Genetic diseases, Nephrological diseases, Respiratory diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Asphyxiating Thoracic Dystrophy

MalaCards integrated aliases for Asphyxiating Thoracic Dystrophy:

Name: Asphyxiating Thoracic Dystrophy 12 50 24 25 14
Jeune Syndrome 12 50 24 25 56
Jeune Thoracic Dystrophy 25 29 69
Atd 50 24 25
Chondroectodermal Dysplasia-Like Syndrome 50 25
Jeune Asphyxiating Thoracic Dystrophy 24 56
Thoracic Pelvic Phalangeal Dystrophy 12 50
Asphyxiating Thoracic Dysplasia 24 25
Infantile Thoracic Dystrophy 50 25
Short-Rib Thoracic Dysplasia with or Without Polydactyly 12
Asphyxiating Thoracic Dystrophy of the Newborn 56
Asphyxiating Thoracic Chondrodystrophy 25
Thoracic-Pelvic-Phalangeal Dystrophy 25
Thoracic Asphyxiant Dystrophy 25
Jeune Thoracic Dysplasia 25
Jeune's Syndrome 50
Jatd 56

Characteristics:

Orphanet epidemiological data:

56
jeune syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Antenatal,Neonatal; Age of death: any age;

Classifications:



External Ids:

Disease Ontology 12 DOID:0050592
ICD10 33 Q77.2
Orphanet 56 ORPHA474
MESH via Orphanet 43 C537571
UMLS via Orphanet 70 C0265275
ICD10 via Orphanet 34 Q77.2

Summaries for Asphyxiating Thoracic Dystrophy

NIH Rare Diseases : 50 jeune syndrome is a rare condition that primarily affects the bones. common signs and symptoms include a small chest and short ribs which restrict the growth and expansion of the lungs, often causing life-threatening breathing difficulties. other symptoms may include shortened bones in the arms and legs, unusually shaped pelvic bones, and extra fingers and/or toes. people who survive the breathing challenges of infancy, may later develop severe kidney or heart problems. in many cases the cause of jeune syndrome is unknown; however, changes (mutations) in several different genes (ift80, dync2h1, wdr19, ift140 and ttc21b) have been identified in some families with the condition. jeune syndrome is inherited in an autosomal recessive manner. treatment is based on the signs and symptoms present in each person. last updated: 4/29/2015

MalaCards based summary : Asphyxiating Thoracic Dystrophy, also known as jeune syndrome, is related to joubert syndrome with jeune asphyxiating thoracic dystrophy and short-rib thoracic dysplasia 4 with or without polydactyly, and has symptoms including short stature, renal insufficiency and narrow chest. An important gene associated with Asphyxiating Thoracic Dystrophy is DYNC2H1 (Dynein Cytoplasmic 2 Heavy Chain 1), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Signaling by Hedgehog. Affiliated tissues include bone, lung and heart, and related phenotypes are cellular and limbs/digits/tail

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.

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 top 50) (show all 53)
id Related Disease Score Top Affiliating Genes
1 joubert syndrome with jeune asphyxiating thoracic dystrophy 12.1
2 short-rib thoracic dysplasia 4 with or without polydactyly 12.0
3 short-rib thoracic dysplasia 2 with or without polydactyly 12.0
4 short-rib thoracic dysplasia 5 with or without polydactyly 12.0
5 short-rib thoracic dysplasia 3 with or without polydactyly 12.0
6 short-rib thoracic dysplasia 1 with or without polydactyly 11.9
7 jeune syndrome situs inversus 11.8
8 short-rib thoracic dysplasia 6 with or without polydactyly 11.3
9 short-rib thoracic dysplasia 8 with or without polydactyly 11.3
10 short-rib thoracic dysplasia 11 with or without polydactyly 11.3
11 short-rib thoracic dysplasia 14 with polydactyly 11.3
12 short-rib thoracic dysplasia 9 with or without polydactyly 11.3
13 short-rib thoracic dysplasia 7 with or without polydactyly 11.3
14 short-rib thoracic dysplasia 10 with or without polydactyly 11.3
15 benallegue lacete syndrome 11.2
16 short-rib thoracic dysplasia 13 with or without polydactyly 11.2
17 short-rib thoracic dysplasia 15 with polydactyly 11.2
18 short-rib thoracic dysplasia 16 with or without polydactyly 11.2
19 short-rib thoracic dysplasia 17 with or without polydactyly 11.2
20 short-rib thoracic dysplasia 12 11.0
21 spondyloepimetaphyseal dysplasia, camera-genevieve type 10.6 NPHP4 TTC21B WDR19
22 multiple acyl-coa dehydrogenase deficiency, mild type 10.6 CSPP1 KIAA0586
23 juvenile myelomonocytic leukemia, somatic ptpn11-related 10.5 KIAA0586 RPGRIP1L TTC21B
24 lymphedema, hereditary, id 10.5 DYNC2H1 IFT80 NEK1
25 acid-labile subunit, deficiency of 10.4 IFT140 IFT172
26 senior-loken syndrome-1 10.4 IFT140 NPHP4 TTC21B WDR19
27 joubert syndrome 28 10.4 BBS1 RPGRIP1L TTC21B
28 bardet-biedl syndrome 13 10.2 CEP120 CSPP1 NPHP4 RPGRIP1L
29 polydactyly 10.2
30 cerebral atherosclerosis 10.1 NPHP4 RPGRIP1L TTC21B WDR19
31 trichomoniasis 10.0 BBS1 IFT172 NPHP4 RPGRIP1L TTC21B
32 retinitis 10.0
33 shwachman-diamond syndrome 10.0
34 hepatitis 10.0
35 renal dysplasia, unilateral 9.9 FMN1 GREM1
36 horner's syndrome 9.9 BBS1 DYNC2H1 DYNC2LI1 NEK1 WDR34 WDR35
37 myopathy, myofibrillar, 7 9.9 DYNC2H1 IFT140 IFT172 IFT80 NEK1 TTC21B
38 ellis-van creveld syndrome 9.9
39 rickets 9.9
40 tuberous sclerosis 9.9
41 pancreatitis 9.9
42 dandy-walker complex 9.9
43 skeletal dysplasias 9.9
44 skeletal dysplasia 9.9
45 hydrocephalus 9.9
46 ciliopathy 9.9
47 epidermolysis bullosa, nonspecific, autosomal recessive 9.8 DYNC2H1 IFT80 NEK1 TCTEX1D2 TTC21B WDR19
48 weyers acrofacial dysostosis 9.7 CEP120 DYNC2H1 DYNC2LI1 IFT140 IFT80 NEK1
49 epileptic encephalopathy, early infantile, 14 9.7 CEP120 CSPP1 IFT140 IFT172 KIAA0586 NPHP4
50 scar contracture 9.7 BBS1 IFT140 IFT172 NPHP4 RPGRIP1L WDR19

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



Diseases related to Asphyxiating Thoracic Dystrophy

Symptoms & Phenotypes for Asphyxiating Thoracic Dystrophy

Human phenotypes related to Asphyxiating Thoracic Dystrophy:

56 32 (show all 26)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 occasional (7.5%) Occasional (29-5%) HP:0004322
2 renal insufficiency 56 32 occasional (7.5%) Occasional (29-5%) HP:0000083
3 narrow chest 56 32 hallmark (90%) Very frequent (99-80%) HP:0000774
4 toe syndactyly 56 32 occasional (7.5%) Occasional (29-5%) HP:0001770
5 respiratory insufficiency 56 32 frequent (33%) Frequent (79-30%) HP:0002093
6 micromelia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002983
7 feeding difficulties in infancy 56 32 occasional (7.5%) Occasional (29-5%) HP:0008872
8 nephronophthisis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000090
9 skeletal dysplasia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002652
10 nephropathy 56 32 occasional (7.5%) Occasional (29-5%) HP:0000112
11 short thorax 56 32 hallmark (90%) Very frequent (99-80%) HP:0010306
12 abnormality of retinal pigmentation 56 32 occasional (7.5%) Occasional (29-5%) HP:0007703
13 cone-shaped epiphysis 56 32 frequent (33%) Frequent (79-30%) HP:0010579
14 short foot 56 32 frequent (33%) Frequent (79-30%) HP:0001773
15 abnormality of the ribs 56 32 hallmark (90%) Very frequent (99-80%) HP:0000772
16 abnormality of pelvic girdle bone morphology 56 32 hallmark (90%) Very frequent (99-80%) HP:0002644
17 abnormality of the clavicle 56 32 frequent (33%) Frequent (79-30%) HP:0000889
18 abnormality of the liver 56 32 occasional (7.5%) Occasional (29-5%) HP:0001392
19 abnormality of the sternum 56 32 frequent (33%) Frequent (79-30%) HP:0000766
20 postaxial hand polydactyly 56 32 occasional (7.5%) Occasional (29-5%) HP:0001162
21 postaxial foot polydactyly 56 32 occasional (7.5%) Occasional (29-5%) HP:0001830
22 aplasia/hypoplasia of the lungs 56 32 occasional (7.5%) Occasional (29-5%) HP:0006703
23 brachydactyly 32 frequent (33%) HP:0001156
24 abnormality of the metaphyses 56 Frequent (79-30%)
25 brachydactyly syndrome 56 Frequent (79-30%)
26 abnormality of the metaphysis 32 frequent (33%) HP:0000944

UMLS symptoms related to Asphyxiating Thoracic Dystrophy:


icterus

MGI Mouse Phenotypes related to Asphyxiating Thoracic Dystrophy:

44 (show all 12)
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.34 BBS1 KIAA0586 CEP120 NPHP4 DYNC2H1 TTC21B
2 limbs/digits/tail MP:0005371 10.22 BBS1 DYNC2H1 DYNC2LI1 FMN1 GREM1 IFT140
3 cardiovascular system MP:0005385 10.21 BBS1 CEP120 DYNC2H1 DYNC2LI1 IFT140 IFT172
4 growth/size/body region MP:0005378 10.21 DYNC2H1 BBS1 CEP120 DYNC2LI1 GREM1 IFT140
5 mortality/aging MP:0010768 10.21 BBS1 CEP120 DYNC2H1 DYNC2LI1 FMN1 GREM1
6 embryo MP:0005380 10.2 CEP120 DYNC2H1 DYNC2LI1 GREM1 IFT140 IFT172
7 craniofacial MP:0005382 10.18 WDR19 BBS1 DYNC2H1 IFT140 IFT172 IFT80
8 nervous system MP:0003631 10.13 TTC21B WDR19 BBS1 CEP120 DYNC2H1 DYNC2LI1
9 renal/urinary system MP:0005367 10 IFT140 IFT172 IFT80 NEK1 NPHP4 RPGRIP1L
10 skeleton MP:0005390 9.77 DYNC2H1 FMN1 GREM1 IFT140 IFT172 IFT80
11 respiratory system MP:0005388 9.7 BBS1 DYNC2H1 GREM1 IFT140 IFT172 RPGRIP1L
12 vision/eye MP:0005391 9.23 BBS1 DYNC2H1 IFT140 IFT172 IFT80 NPHP4

Drugs & Therapeutics for Asphyxiating Thoracic Dystrophy

Interventional clinical trials:


id 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:

id Genetic test Affiliating Genes
1 Jeune Thoracic Dystrophy 29
2 Asphyxiating Thoracic Dystrophy 24 WDR19

Anatomical Context for Asphyxiating Thoracic Dystrophy

MalaCards organs/tissues related to Asphyxiating Thoracic Dystrophy:

39
Bone, Lung, Heart, Kidney, Liver, Spinal Cord

Publications for Asphyxiating Thoracic Dystrophy

Articles related to Asphyxiating Thoracic Dystrophy:

(show top 50) (show all 81)
id 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
Jeune syndrome: considerations for management of asphyxiating thoracic dystrophy. ( 23985472 )
2013
10
Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. ( 24183451 )
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
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 intraflagellar transport protein ift80 is essential for photoreceptor survival in a zebrafish model of jeune asphyxiating thoracic dystrophy. ( 20207966 )
2010
19
The Nuss technique for Jeune asphyxiating thoracic dystrophy repair in siblings. ( 20606585 )
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
Hepatic manifestations of Jeune syndrome (asphyxiating thoracic dystrophy). ( 12800072 )
2003
28
Asphyxiating thoracic dystrophy and syndactyly of the toes in a newborn: coincidence or a new association? ( 12725597 )
2003
29
A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13. ( 12807964 )
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
Dandy-Walker complex in a child with Jeune's asphyxiating thoracic dystrophy. ( 10876833 )
2000
33
Exclusion of the Ellis-van Creveld region on chromosome 4p16 in some families with asphyxiating thoracic dystrophy and short-rib polydactyly syndromes. ( 10951528 )
2000
34
Jeune asphyxiating thoracic dystrophy and short-rib polydactyly type III (Verma-Naumoff) are variants of the same disorder. ( 10710229 )
2000
35
Jeune syndrome (asphyxiating thoracic dystrophy) associated with Hirschsprung disease. ( 10532174 )
1999
36
Prenatal sonographic findings associated with asphyxiating thoracic dystrophy (Jeune syndrome). ( 10447085 )
1999
37
Homologous bone graft for expansion thoracoplasty in Jeune's asphyxiating thoracic dystrophy. ( 10211668 )
1999
38
Chest reconstruction in asphyxiating thoracic dystrophy. ( 9802821 )
1998
39
Operative management of asphyxiating thoracic dystrophy after pectus repair. ( 9498398 )
1998
40
Jeune's asphyxiating thoracic dystrophy of the newborn. ( 9617610 )
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
Asphyxiating thoracic dystrophy: surgical correction and 2-year follow-up in a girl. ( 8086645 )
1994
44
A case of Jeune syndrome (asphyxiating thoracic dystrophy). ( 17586875 )
1994
45
Asphyxiating thoracic dystrophy (Jeune's disease): a case report. ( 8055771 )
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
Long-term continuous positive airway pressure in a child with asphyxiating thoracic dystrophy. ( 3278290 )
1988

Variations for Asphyxiating Thoracic Dystrophy

ClinVar genetic disease variations for Asphyxiating Thoracic Dystrophy:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 IFT140 NM_014714.3(IFT140): c.1565G> A (p.Gly522Glu) single nucleotide variant Pathogenic rs199826737 GRCh37 Chromosome 16, 1621495: 1621495
2 IFT140 NM_014714.3(IFT140): c.1380delC (p.Asn460Lysfs) deletion Pathogenic rs431905522 GRCh37 Chromosome 16, 1633367: 1633367
3 TTC21B NM_024753.4(TTC21B): c.684G> A (p.Trp228Ter) single nucleotide variant Pathogenic rs777162250 GRCh38 Chromosome 2, 165941053: 165941053
4 DYNC2H1 NM_001080463.1(DYNC2H1): c.1757T> G (p.Val586Gly) single nucleotide variant Pathogenic rs864622357 GRCh38 Chromosome 11, 103125195: 103125195
5 DYNC2H1 NM_001080463.1(DYNC2H1): c.2702+1G> A single nucleotide variant Pathogenic rs864622358 GRCh38 Chromosome 11, 103143396: 103143396
6 DYNC2H1 NM_001080463.1(DYNC2H1): c.9841-2A> G single nucleotide variant Likely pathogenic rs864622111 GRCh38 Chromosome 11, 103243691: 103243691
7 DYNC2H1 NM_001080463.1(DYNC2H1): c.5495C> A (p.Ser1832Ter) single nucleotide variant Pathogenic rs754919042 GRCh38 Chromosome 11, 103173242: 103173242
8 DYNC2H1 NM_001080463.1(DYNC2H1): c.10606C> T (p.Arg3536Ter) single nucleotide variant Pathogenic rs562139820 GRCh38 Chromosome 11, 103257731: 103257731
9 DYNC2H1 NM_001080463.1(DYNC2H1): c.5547delC (p.Phe1849Leufs) deletion Pathogenic rs771003300 GRCh38 Chromosome 11, 103173294: 103173294

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 GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.53 BBS1 DYNC2H1 DYNC2LI1 IFT140 IFT172 IFT80
2
Show member pathways
12.24 DYNC2H1 IFT140 IFT172 RPGRIP1L TTC21B WDR19
3 10.98 DYNC2H1 DYNC2LI1 IFT140 IFT172 IFT80 TCTEX1D2

GO Terms for Asphyxiating Thoracic Dystrophy

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

(show all 21)
id Name GO ID Score Top Affiliating Genes
1 cilium GO:0005929 9.97 BBS1 DYNC2H1 DYNC2LI1 IFT140 IFT172 IFT80
2 cytoplasmic dynein complex GO:0005868 9.85 DYNC2H1 DYNC2LI1 TCTEX1D2 WDR34 WDR60
3 photoreceptor connecting cilium GO:0032391 9.8 IFT140 NPHP4 RPGRIP1L WDR19
4 intraciliary transport particle A GO:0030991 9.78 IFT140 TTC21B WDR19 WDR35
5 spindle pole GO:0000922 9.77 CSPP1 TCTEX1D2 WDR60
6 centriole GO:0005814 9.76 CEP120 KIAA0586 WDR34
7 motile cilium GO:0031514 9.74 DYNC2H1 DYNC2LI1 WDR19
8 ciliary transition zone GO:0035869 9.72 DYNC2LI1 NPHP4 RPGRIP1L
9 ciliary base GO:0097546 9.71 NPHP4 TCTEX1D2 WDR60
10 non-motile cilium GO:0097730 9.7 IFT140 NPHP4 WDR19
11 ciliary tip GO:0097542 9.65 DYNC2H1 DYNC2LI1 IFT140 IFT172 IFT80 TTC21B
12 intraciliary transport particle B GO:0030992 9.59 IFT172 IFT80
13 pericentriolar material GO:0000242 9.58 NEK1 WDR60
14 interphase microtubule organizing center GO:0031021 9.56 TCTEX1D2 WDR60
15 axoneme GO:0005930 9.28 BBS1 DYNC2H1 DYNC2LI1 IFT140 IFT172 RPGRIP1L
16 cytoplasm GO:0005737 10.41 BBS1 CEP120 CSPP1 DYNC2H1 DYNC2LI1 FMN1
17 cytoskeleton GO:0005856 10.28 BBS1 CEP120 CSPP1 DYNC2H1 DYNC2LI1 IFT140
18 cell projection GO:0042995 10.17 BBS1 DYNC2H1 DYNC2LI1 IFT140 IFT172 IFT80
19 microtubule organizing center GO:0005815 10.13 BBS1 CEP120 CSPP1 DYNC2LI1 IFT140 KIAA0586
20 centrosome GO:0005813 10.07 BBS1 CEP120 CSPP1 DYNC2LI1 IFT140 IFT80
21 ciliary basal body GO:0036064 10.02 BBS1 DYNC2LI1 IFT140 IFT172 KIAA0586 NPHP4

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

(show all 19)
id Name GO ID Score Top Affiliating Genes
1 cell projection organization GO:0030030 9.91 BBS1 DYNC2H1 DYNC2LI1 IFT140 KIAA0586 NEK1
2 determination of left/right symmetry GO:0007368 9.83 DYNC2H1 DYNC2LI1 IFT140 IFT172 RPGRIP1L
3 cilium assembly GO:0060271 9.8 BBS1 DYNC2H1 DYNC2LI1 IFT140 IFT172 IFT80
4 smoothened signaling pathway GO:0007224 9.76 IFT172 KIAA0586 TTC21B WDR19
5 non-motile cilium assembly GO:1905515 9.72 BBS1 DYNC2H1 IFT140 IFT172 RPGRIP1L
6 regulation of smoothened signaling pathway GO:0008589 9.71 IFT140 IFT172 RPGRIP1L TTC21B
7 embryonic limb morphogenesis GO:0030326 9.7 DYNC2H1 GREM1 WDR19
8 regulation of cilium assembly GO:1902017 9.67 DYNC2LI1 IFT140 TCTEX1D2
9 protein localization to cilium GO:0061512 9.67 BBS1 IFT140 TTC21B WDR35
10 limb development GO:0060173 9.65 FMN1 GREM1 IFT172
11 positive regulation of smoothened signaling pathway GO:0045880 9.58 DYNC2H1 IFT172
12 limb morphogenesis GO:0035108 9.58 IFT140 RPGRIP1L
13 spinal cord motor neuron differentiation GO:0021522 9.57 DYNC2H1 IFT172
14 embryonic camera-type eye development GO:0031076 9.55 IFT140 WDR19
15 intraciliary retrograde transport GO:0035721 9.55 DYNC2H1 IFT140 TTC21B WDR19 WDR35
16 photoreceptor cell outer segment organization GO:0035845 9.54 IFT140 NPHP4
17 neural tube patterning GO:0021532 9.51 IFT140 RPGRIP1L
18 intraciliary transport involved in cilium assembly GO:0035735 9.32 DYNC2H1 DYNC2LI1 IFT140 IFT172 IFT80 TTC21B
19 intraciliary transport GO:0042073 9.26 IFT140

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

id Name GO ID Score Top Affiliating Genes
1 ATP-dependent microtubule motor activity, minus-end-directed GO:0008569 9.16 DYNC2H1 DYNC2LI1
2 dynein intermediate chain binding GO:0045505 8.96 TCTEX1D2
3 dynein light chain binding GO:0045503 8.96 WDR34 WDR60
4 dynein heavy chain binding GO:0045504 8.32 DYNC2LI1

Sources for Asphyxiating Thoracic Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
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30 HGMD
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34 ICD10 via Orphanet
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37 KEGG
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59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
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70 UMLS via Orphanet
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