MCID: DPH006
MIFTS: 31

Diaphragmatic Eventration

Categories: Muscle diseases

Aliases & Classifications for Diaphragmatic Eventration

Summaries for Diaphragmatic Eventration

MalaCards based summary : Diaphragmatic Eventration is related to diaphragmatic hernia, congenital and mediastinitis. An important gene associated with Diaphragmatic Eventration is STRA6 (Stimulated By Retinoic Acid 6), and among its related pathways/superpathways are Clathrin-mediated endocytosis and Hypothesized Pathways in Pathogenesis of Cardiovascular Disease. Affiliated tissues include liver, kidney and heart, and related phenotypes are growth/size/body region and mortality/aging

Related Diseases for Diaphragmatic Eventration

Diseases related to Diaphragmatic Eventration via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 50)
# Related Disease Score Top Affiliating Genes
1 diaphragmatic hernia, congenital 31.1 STRA6 TEF ZFPM2
2 mediastinitis 30.8 NKX2-6 TEF
3 tricuspid atresia 10.6 NKX2-6 ZFPM2
4 aortic aneurysm, familial thoracic 2 10.6 FBN1 FLNA
5 tracheal stenosis 10.6 FBN1 TEF
6 esophageal atresia/tracheoesophageal fistula 10.5 NKX2-6 TEF
7 diaphragm disease 10.5 STRA6 TEF ZFPM2
8 anus, imperforate 10.4 SATB2 TEF
9 colobomatous microphthalmia 10.4 GDF3 STRA6
10 tricuspid valve disease 10.3 FBN1 NKX2-6
11 coloboma of macula 10.3 GDF3 SATB2 STRA6
12 tricuspid valve stenosis 10.3 FBN1 FLNA NKX2-6
13 senile entropion 10.2 FLNA LAX1
14 aortic valve insufficiency 10.2 FBN1 NKX2-6
15 pulmonary sequestration 10.2
16 tricuspid valve prolapse 10.1 EGF FBN1 PIK3C2A
17 cleft palate, isolated 10.0 FLNA GABRB3 SATB2
18 boomerang dysplasia 10.0 ARPC1A FLNA
19 hernia, hiatus 10.0
20 heart disease 10.0
21 dextrocardia 10.0
22 atelosteogenesis 9.9 ARPC1A FLNA
23 beckwith-wiedemann syndrome 9.9
24 marfan syndrome 9.9
25 wolff-parkinson-white syndrome 9.9
26 lung cancer 9.9
27 hydrops fetalis, nonimmune 9.9
28 pulmonary disease, chronic obstructive 9.9
29 myocardial infarction 9.9
30 asparagine synthetase deficiency 9.9
31 hydrops fetalis, nonimmune, and/or atrial septal defect 9.9
32 hepatitis 9.9
33 microphthalmia 9.9
34 hydronephrosis 9.9
35 respiratory failure 9.9
36 hemopericardium 9.9
37 pericardial effusion 9.9
38 pneumothorax 9.9
39 splenic infarction 9.9
40 situs inversus 9.9
41 peritonitis 9.9
42 branchial arch defects 9.9
43 fetal edema 9.9
44 hydrops fetalis 9.9
45 lipoblastoma 9.9
46 immune hydrops fetalis 9.9
47 neonatal marfan syndrome 9.9
48 chromosome xp21 deletion syndrome 9.8 PIK3C2A PTER
49 tetralogy of fallot 9.7 FBN1 NKX2-6 ZFPM2
50 physical disorder 9.5 FLNA PTER SATB2

Graphical network of the top 20 diseases related to Diaphragmatic Eventration:



Diseases related to Diaphragmatic Eventration

Symptoms & Phenotypes for Diaphragmatic Eventration

MGI Mouse Phenotypes related to Diaphragmatic Eventration:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.03 ASNS EGF FBN1 FLNA GABRB3 GDF3
2 mortality/aging MP:0010768 9.93 FBN1 FLNA GABRB3 GDF3 IGHMBP2 NKX2-6
3 nervous system MP:0003631 9.7 ASNS FBN1 FLNA GABRB3 IGHMBP2 PIK3C2A
4 respiratory system MP:0005388 9.17 FBN1 FLNA IGHMBP2 NKX2-6 SATB2 SH3GL1

Drugs & Therapeutics for Diaphragmatic Eventration

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Genetic Analysis of Congenital Diaphragmatic Disorders Recruiting NCT01243229

Search NIH Clinical Center for Diaphragmatic Eventration

Cochrane evidence based reviews: diaphragmatic eventration

Genetic Tests for Diaphragmatic Eventration

Anatomical Context for Diaphragmatic Eventration

MalaCards organs/tissues related to Diaphragmatic Eventration:

41
Liver, Kidney, Heart, Caudate Nucleus, Lung, Spleen

Publications for Diaphragmatic Eventration

Articles related to Diaphragmatic Eventration:

(show top 50) (show all 123)
# Title Authors Year
1
Diaphragmatic eventration presenting as a recurrent diaphragmatic hernia. ( 28853592 )
2017
2
Congenital diaphragmatic eventration complicated with neonatal gastric perforation. ( 29424874 )
2017
3
Congenital unilateral diaphragmatic eventration in an adult: A rare case presentation. ( 28448861 )
2017
4
Congenital Diaphragmatic Hernia and Diaphragmatic Eventration. ( 29127959 )
2017
5
Comparison of Mid-Term Clinical Outcomes of Different Surgical Approaches in Symptomatic Diaphragmatic Eventration. ( 27076066 )
2016
6
A rare case: Congenital thoracic ectopic kidney with diaphragmatic eventration. ( 26968290 )
2016
7
Diaphragmatic Eventration: Autopsy Case Report. ( 28465759 )
2016
8
Diaphragmatic Eventration in Sisters with Asparagine Synthetase Deficiency: A Novel Homozygous ASNS Mutation and Expanded Phenotype. ( 27469131 )
2016
9
Extralobar Pulmonary Sequestration with Accompanying Ipsilateral Diaphragmatic Eventration. ( 27670535 )
2016
10
Diaphragmatic eventration in children. ( 26337303 )
2015
11
Open Transthoracic Plication of the Diaphragm for Unilateral Diaphragmatic Eventration in Infants and Children. ( 26509123 )
2015
12
Diaphragmatic eventration in children: laparoscopy versus thoracoscopic plication. ( 25760817 )
2015
13
Spontaneous rupture of a congenital diaphragmatic eventration in an infant. ( 25976306 )
2015
14
Laparoscopic Diaphragmatic Hemiplication in Children with Acquired Diaphragmatic Eventration After Congenital Heart Surgery. ( 26312945 )
2015
15
Thoracoscopic plication for diaphragmatic eventration after surgery for congenital heart disease in children. ( 25536425 )
2015
16
Congenital diaphragmatic eventration in children: 12years' experience with 177 cases in a single institution. ( 25783408 )
2015
17
Thoracoscopic and laparoscopic plication of the hemidiaphragm is effective in the management of diaphragmatic eventration. ( 24100524 )
2014
18
Diaphragmatic eventration secondary to ectopic kidneys. ( 25175141 )
2014
19
Bilateral central vein occlusion in a case of diaphragmatic eventration. ( 25705293 )
2014
20
A simple thoracoscopic plication technique for diaphragmatic eventration in neonates and infants: technical details and initial results. ( 25139157 )
2014
21
A simple technique for thoracoscopic treatment of diaphragmatic eventration. ( 24069985 )
2013
22
Diaphragmatic eventration presenting with sudden dyspnoea. ( 23598932 )
2013
23
Reconstruction of recurrent diaphragmatic eventration with an elongated polytetrafluoroethylene sheet. ( 23644727 )
2013
24
Multiple haemangiomas, diaphragmatic eventration and Beckwith-Wiedemann syndrome: an unusual association. ( 23964040 )
2013
25
Thoracoscopic Treatment of Congenital Diaphragmatic Eventration in Children: Lessons Learned After 15 Years of Experience. ( 23784749 )
2013
26
Right atrial compression due to diaphragmatic eventration after liver transplantation-successful treatment by diaphragmatic plication. ( 24357079 )
2013
27
Thoracoscopic plication for diaphragmatic eventration in a neonate. ( 22971706 )
2013
28
Pulmonary sequestration and diaphragmatic eventration in a 6-month-old infant. ( 22348498 )
2012
29
Diaphragmatic eventration and gastric volvulus treated by laparoscopic gastropexy. ( 23025683 )
2012
30
A large bulla simulating diaphragmatic eventration. Chronic obstructive pulmonary disease (COPD) with a large left lower lobe bulla. ( 22973781 )
2012
31
Diaphragmatic eventration complicated by gastric volvulus with perforation. ( 22856443 )
2012
32
Ruptured diaphragmatic eventration: a rare cause of acute postpartum dyspnea. ( 22632531 )
2012
33
Tension pneumoperitoneum complicated with tension pneumothorax in a patient with diaphragmatic eventration. ( 22604199 )
2012
34
Prenatal diagnosis of right diaphragmatic eventration associated with fetal hydrops. ( 22519886 )
2012
35
Diaphragmatic eventration misdiagnosed as dextrocardia. ( 22679318 )
2011
36
Bilateral congenital diaphragmatic eventration: an unusual cause of respiratory distress in an infant. ( 22005383 )
2011
37
Rupture of a congenital diaphragmatic eventration in a child: report of a case. ( 21969196 )
2011
38
Anesthetic management of a patient with congenital diaphragmatic eventration. ( 21626261 )
2011
39
Left diaphragmatic eventration associated with ipsilateral pulmonary sequestration and intrathoracic kidney in a fetus: reviewing the prenatal diagnosis and etiopathogenesis. ( 21434828 )
2011
40
Congenital diaphragmatic eventration in two closely related British Shorthair cats. ( 21239200 )
2011
41
Surgical repair of congenital diaphragmatic eventration in a septugerian lady. ( 20563478 )
2010
42
Tubular jejunal duplication, amelia and congenital diaphragmatic eventration in a neonate. ( 20400896 )
2010
43
Clinical and surgical specifications of adult unilateral diaphragmatic eventration according to their aetiology in 28 patients. Importance of using diaphragmatic patch and minimal thoracotomy incision. ( 19699653 )
2010
44
Successful intentional lobectomy for lung cancer after treating contralateral diaphragmatic eventration. ( 20231308 )
2010
45
An infant with diaphragmatic eventration and respiratory distress. ( 21122288 )
2010
46
Mediastinal lipoblastoma causing diaphragmatic eventration: a case report and review of the literature. ( 19415015 )
2009
47
Diaphragmatic eventration. ( 20112634 )
2009
48
Two novel STRA6 mutations in a patient with anophthalmia and diaphragmatic eventration. ( 19213032 )
2009
49
Thoracoscopic plication for diaphragmatic eventration in a 3-month-old infant. ( 18629770 )
2009
50
Right-sided diaphragmatic eventration: A rare entity. ( 20440395 )
2009

Variations for Diaphragmatic Eventration

Expression for Diaphragmatic Eventration

Search GEO for disease gene expression data for Diaphragmatic Eventration.

Pathways for Diaphragmatic Eventration

Pathways related to Diaphragmatic Eventration according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.3 ARPC1A EGF PIK3C2A SH3GL1
2 10.35 FBN1 FLNA

GO Terms for Diaphragmatic Eventration

Biological processes related to Diaphragmatic Eventration according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of neuron apoptotic process GO:0043523 9.16 AKT1S1 GABRB3
2 membrane organization GO:0061024 9.13 ARPC1A EGF PIK3C2A
3 heart development GO:0007507 8.92 FBN1 NKX2-6 STRA6 ZFPM2

Sources for Diaphragmatic Eventration

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
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