MCID: DPH006
MIFTS: 29

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). 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 44)
# Related Disease Score Top Affiliating Genes
1 diaphragmatic hernia, congenital 30.7 STRA6 TEF ZFPM2
2 mediastinitis 30.4 NKX2-6 TEF
3 tracheal stenosis 10.3 FBN1 TEF
4 tricuspid atresia 10.3 NKX2-6 ZFPM2
5 colobomatous microphthalmia 10.3 GDF3 STRA6
6 tricuspid valve disease 10.2 FBN1 NKX2-6
7 esophageal atresia/tracheoesophageal fistula 10.2 NKX2-6 TEF
8 diaphragm disease 10.2 STRA6 TEF ZFPM2
9 anus, imperforate 10.2 SATB2 TEF
10 aortic valve insufficiency 10.2 FBN1 NKX2-6
11 pulmonary sequestration 10.2
12 tricuspid valve stenosis 10.1 FBN1 NKX2-6
13 cloacal exstrophy 10.1 NKX2-6 SATB2
14 hernia, hiatus 10.0
15 heart disease 10.0
16 dextrocardia 10.0
17 tetralogy of fallot 10.0 FBN1 NKX2-6 ZFPM2
18 tricuspid valve prolapse 9.9 EGF FBN1 PIK3C2A
19 beckwith-wiedemann syndrome 9.9
20 marfan syndrome 9.9
21 lung cancer 9.9
22 congenital heart defects, hamartomas of tongue, and polysyndactyly 9.9
23 hydrops fetalis, nonimmune 9.9
24 pulmonary disease, chronic obstructive 9.9
25 myocardial infarction 9.9
26 asparagine synthetase deficiency 9.9
27 hydrops fetalis, nonimmune, and/or atrial septal defect 9.9
28 hepatitis 9.9
29 microphthalmia 9.9
30 hydronephrosis 9.9
31 respiratory failure 9.9
32 hemopericardium 9.9
33 pericardial effusion 9.9
34 pneumothorax 9.9
35 splenic infarction 9.9
36 situs inversus 9.9
37 peritonitis 9.9
38 branchial arch defects 9.9
39 hydrops fetalis 9.9
40 lipoblastoma 9.9
41 immune hydrops fetalis 9.9
42 neonatal marfan syndrome 9.9
43 chromosome xp21 deletion syndrome 9.8 PIK3C2A PTER
44 chromosomal deletion syndrome 9.5 NKX2-6 PTER

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:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10 ASNS EGF FBN1 GABRB3 GDF3 IGHMBP2
2 mortality/aging MP:0010768 9.9 FBN1 GABRB3 GDF3 IGHMBP2 NKX2-6 PIK3C2A
3 nervous system MP:0003631 9.65 PIK3C2A SATB2 SH3GL1 STRA6 TEF AKT1S1
4 respiratory system MP:0005388 9.1 FBN1 IGHMBP2 NKX2-6 SATB2 SH3GL1 ZFPM2

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:

38
Liver, Kidney, Heart, Caudate Nucleus, Lung, Spleen

Publications for Diaphragmatic Eventration

Articles related to Diaphragmatic Eventration:

(show top 50) (show all 120)
# Title Authors Year
1
Diaphragmatic eventration presenting as a recurrent diaphragmatic hernia. ( 28853592 )
2017
2
Congenital unilateral diaphragmatic eventration in an adult: A rare case presentation. ( 28448861 )
2017
3
Congenital Diaphragmatic Hernia and Diaphragmatic Eventration. ( 29127959 )
2017
4
Congenital diaphragmatic eventration complicated with neonatal gastric perforation. ( 29424874 )
2017
5
Comparison of Mid-Term Clinical Outcomes of Different Surgical Approaches in Symptomatic Diaphragmatic Eventration. ( 27076066 )
2016
6
Diaphragmatic Eventration in Sisters with Asparagine Synthetase Deficiency: A Novel Homozygous ASNS Mutation and Expanded Phenotype. ( 27469131 )
2016
7
Diaphragmatic Eventration: Autopsy Case Report. ( 28465759 )
2016
8
Extralobar Pulmonary Sequestration with Accompanying Ipsilateral Diaphragmatic Eventration. ( 27670535 )
2016
9
A rare case: Congenital thoracic ectopic kidney with diaphragmatic eventration. ( 26968290 )
2016
10
Laparoscopic Diaphragmatic Hemiplication in Children with Acquired Diaphragmatic Eventration After Congenital Heart Surgery. ( 26312945 )
2015
11
Spontaneous rupture of a congenital diaphragmatic eventration in an infant. ( 25976306 )
2015
12
Diaphragmatic eventration in children. ( 26337303 )
2015
13
Congenital diaphragmatic eventration in children: 12years' experience with 177 cases in a single institution. ( 25783408 )
2015
14
Thoracoscopic plication for diaphragmatic eventration after surgery for congenital heart disease in children. ( 25536425 )
2015
15
Open Transthoracic Plication of the Diaphragm for Unilateral Diaphragmatic Eventration in Infants and Children. ( 26509123 )
2015
16
Diaphragmatic eventration in children: laparoscopy versus thoracoscopic plication. ( 25760817 )
2015
17
A simple thoracoscopic plication technique for diaphragmatic eventration in neonates and infants: technical details and initial results. ( 25139157 )
2014
18
Thoracoscopic and laparoscopic plication of the hemidiaphragm is effective in the management of diaphragmatic eventration. ( 24100524 )
2014
19
Diaphragmatic eventration secondary to ectopic kidneys. ( 25175141 )
2014
20
Bilateral central vein occlusion in a case of diaphragmatic eventration. ( 25705293 )
2014
21
Thoracoscopic Treatment of Congenital Diaphragmatic Eventration in Children: Lessons Learned After 15 Years of Experience. ( 23784749 )
2013
22
Diaphragmatic eventration presenting with sudden dyspnoea. ( 23598932 )
2013
23
Right atrial compression due to diaphragmatic eventration after liver transplantation-successful treatment by diaphragmatic plication. ( 24357079 )
2013
24
Reconstruction of recurrent diaphragmatic eventration with an elongated polytetrafluoroethylene sheet. ( 23644727 )
2013
25
Thoracoscopic plication for diaphragmatic eventration in a neonate. ( 22971706 )
2013
26
A simple technique for thoracoscopic treatment of diaphragmatic eventration. ( 24069985 )
2013
27
Multiple haemangiomas, diaphragmatic eventration and Beckwith-Wiedemann syndrome: an unusual association. ( 23964040 )
2013
28
Diaphragmatic eventration and gastric volvulus treated by laparoscopic gastropexy. ( 23025683 )
2012
29
A large bulla simulating diaphragmatic eventration. Chronic obstructive pulmonary disease (COPD) with a large left lower lobe bulla. ( 22973781 )
2012
30
Pulmonary sequestration and diaphragmatic eventration in a 6-month-old infant. ( 22348498 )
2012
31
Tension pneumoperitoneum complicated with tension pneumothorax in a patient with diaphragmatic eventration. ( 22604199 )
2012
32
Prenatal diagnosis of right diaphragmatic eventration associated with fetal hydrops. ( 22519886 )
2012
33
Ruptured diaphragmatic eventration: a rare cause of acute postpartum dyspnea. ( 22632531 )
2012
34
Diaphragmatic eventration complicated by gastric volvulus with perforation. ( 22856443 )
2012
35
Bilateral congenital diaphragmatic eventration: an unusual cause of respiratory distress in an infant. ( 22005383 )
2011
36
Congenital diaphragmatic eventration in two closely related British Shorthair cats. ( 21239200 )
2011
37
Diaphragmatic eventration misdiagnosed as dextrocardia. ( 22679318 )
2011
38
Left diaphragmatic eventration associated with ipsilateral pulmonary sequestration and intrathoracic kidney in a fetus: reviewing the prenatal diagnosis and etiopathogenesis. ( 21434828 )
2011
39
Anesthetic management of a patient with congenital diaphragmatic eventration. ( 21626261 )
2011
40
Rupture of a congenital diaphragmatic eventration in a child: report of a case. ( 21969196 )
2011
41
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
42
Tubular jejunal duplication, amelia and congenital diaphragmatic eventration in a neonate. ( 20400896 )
2010
43
Surgical repair of congenital diaphragmatic eventration in a septugerian lady. ( 20563478 )
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
Transperitoneal laparoscopic surgery using endostaplers for adult unilateral diaphragmatic eventration. ( 19390263 )
2009
47
A right diaphragmatic eventration incidentally diagnosed and successfully repaired through an abdominal approach. A case report. ( 19499689 )
2009
48
Thoracoscopic plication for diaphragmatic eventration in a 3-month-old infant. ( 18629770 )
2009
49
Mediastinal lipoblastoma causing diaphragmatic eventration: a case report and review of the literature. ( 19415015 )
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

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 8.96 AKT1S1 GABRB3
2 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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