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 pulmonary sequestration. 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 cardiovascular system

Related Diseases for Diaphragmatic Eventration

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

(show all 49)
# Related Disease Score Top Affiliating Genes
1 diaphragmatic hernia, congenital 30.5 ZFPM2 TEF STRA6 PAX3
2 pulmonary sequestration 10.3
3 aortic aneurysm, familial thoracic 2 10.2 FLNA FBN1
4 tracheal stenosis 10.2 TEF FBN1
5 tricuspid atresia 10.2 ZFPM2 NKX2-6
6 mediastinitis 10.2 TEF NKX2-6
7 tricuspid valve disease 10.1 NKX2-6 FBN1
8 esophageal atresia/tracheoesophageal fistula 10.1 TEF NKX2-6
9 colobomatous microphthalmia 10.1 STRA6 GDF3
10 hernia, hiatus 10.1
11 heart disease 10.1
12 dextrocardia 10.1
13 anus, imperforate 10.1 TEF SATB2
14 ebstein anomaly 10.1 NKX2-6 FLNA
15 aortic valve insufficiency 10.1 NKX2-6 FBN1
16 coloboma of macula 10.1 STRA6 SATB2 GDF3
17 tricuspid valve stenosis 10.0 NKX2-6 FBN1
18 chromosome xp21 deletion syndrome 10.0 PTER PIK3C2A
19 diaphragm disease 10.0 ZFPM2 TEF STRA6 PAX3
20 cleft palate, isolated 10.0 SATB2 GABRB3 FLNA
21 tetralogy of fallot 10.0 ZFPM2 NKX2-6 FBN1
22 physical disorder 10.0 SATB2 PTER FLNA
23 beckwith-wiedemann syndrome 10.0
24 marfan syndrome 10.0
25 wolff-parkinson-white syndrome 10.0
26 lung cancer 10.0
27 hydrops fetalis, nonimmune 10.0
28 pulmonary disease, chronic obstructive 10.0
29 myocardial infarction 10.0
30 asparagine synthetase deficiency 10.0
31 hydrops fetalis, nonimmune, and/or atrial septal defect 10.0
32 microphthalmia 10.0
33 hydronephrosis 10.0
34 respiratory failure 10.0
35 megacolon 10.0
36 hemopericardium 10.0
37 pericardial effusion 10.0
38 pneumothorax 10.0
39 situs inversus 10.0
40 fetal edema 10.0
41 hydrops fetalis 10.0
42 lipoblastoma 10.0
43 immune hydrops fetalis 10.0
44 neonatal marfan syndrome 10.0
45 chromosomal disease 10.0 PTER NKX2-6 GABRB3
46 tricuspid valve prolapse 10.0 PIK3C2A FBN1 EGF
47 patent ductus arteriosus 1 10.0 PTER NKX2-6 FLNA
48 atelosteogenesis 10.0 FLNA ARPC1A
49 cloacal exstrophy 9.9 SATB2 NKX2-6

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 10.18 ASNS EGF FBN1 FLNA GABRB3 GDF3
2 cardiovascular system MP:0005385 10.16 FBN1 FLNA IGHMBP2 NKX2-6 PAX3 PIK3C2A
3 behavior/neurological MP:0005386 10.13 ASNS FBN1 FLNA GABRB3 IGHMBP2 PAX3
4 mortality/aging MP:0010768 10.07 FBN1 FLNA GABRB3 GDF3 IGHMBP2 NKX2-6
5 homeostasis/metabolism MP:0005376 10.06 AKT1S1 FBN1 FLNA GDF3 IGHMBP2 NKX2-6
6 embryo MP:0005380 9.95 FBN1 GDF3 NKX2-6 PAX3 PIK3C2A SATB2
7 nervous system MP:0003631 9.93 AKT1S1 ASNS FBN1 FLNA GABRB3 IGHMBP2
8 craniofacial MP:0005382 9.91 FBN1 FLNA GABRB3 PAX3 SATB2 STRA6
9 normal MP:0002873 9.56 EGF FLNA GABRB3 GDF3 NKX2-6 PAX3
10 respiratory system MP:0005388 9.23 FBN1 FLNA IGHMBP2 NKX2-6 PAX3 SATB2

Drugs & Therapeutics for Diaphragmatic Eventration

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Genetic Analysis of Congenital Diaphragmatic Disorders Active, not 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, Lung, Spleen, Caudate Nucleus

Publications for Diaphragmatic Eventration

Articles related to Diaphragmatic Eventration:

(show top 50) (show all 128)
# Title Authors Year
1
Incidental right-sided diaphragmatic eventration after blunt thoracoabdominal trauma. ( 30284592 )
2018
2
Everted Liver Secondary to Diaphragmatic Eventration: A Very Rare Presentation. ( 30196165 )
2018
3
Ectopic anteriorly rotated left kidney causing diaphragmatic eventration. ( 30193529 )
2018
4
Symptomatic pulmonary restriction secondary to diaphragmatic eventration and megacolon in adult. ( 30054326 )
2018
5
Diaphragmatic eventration presenting as a recurrent diaphragmatic hernia. ( 28853592 )
2017
6
Congenital diaphragmatic eventration complicated with neonatal gastric perforation. ( 29424874 )
2017
7
Congenital unilateral diaphragmatic eventration in an adult: A rare case presentation. ( 28448861 )
2017
8
Congenital Diaphragmatic Hernia and Diaphragmatic Eventration. ( 29127959 )
2017
9
Comparison of Mid-Term Clinical Outcomes of Different Surgical Approaches in Symptomatic Diaphragmatic Eventration. ( 27076066 )
2016
10
Diaphragmatic Eventration: Autopsy Case Report. ( 28465759 )
2016
11
Diaphragmatic Eventration in Sisters with Asparagine Synthetase Deficiency: A Novel Homozygous ASNS Mutation and Expanded Phenotype. ( 27469131 )
2016
12
A rare case: Congenital thoracic ectopic kidney with diaphragmatic eventration. ( 26968290 )
2016
13
Extralobar Pulmonary Sequestration with Accompanying Ipsilateral Diaphragmatic Eventration. ( 30454172 )
2016
14
Extralobar Pulmonary Sequestration with Accompanying Ipsilateral Diaphragmatic Eventration. ( 27670535 )
2016
15
Diaphragmatic eventration in children. ( 26337303 )
2015
16
Open Transthoracic Plication of the Diaphragm for Unilateral Diaphragmatic Eventration in Infants and Children. ( 26509123 )
2015
17
Diaphragmatic eventration in children: laparoscopy versus thoracoscopic plication. ( 25760817 )
2015
18
Laparoscopic Diaphragmatic Hemiplication in Children with Acquired Diaphragmatic Eventration After Congenital Heart Surgery. ( 26312945 )
2015
19
Thoracoscopic plication for diaphragmatic eventration after surgery for congenital heart disease in children. ( 25536425 )
2015
20
Congenital diaphragmatic eventration in children: 12years' experience with 177 cases in a single institution. ( 25783408 )
2015
21
Spontaneous rupture of a congenital diaphragmatic eventration in an infant. ( 25976306 )
2015
22
Thoracoscopic and laparoscopic plication of the hemidiaphragm is effective in the management of diaphragmatic eventration. ( 24100524 )
2014
23
Diaphragmatic eventration secondary to ectopic kidneys. ( 25175141 )
2014
24
Bilateral central vein occlusion in a case of diaphragmatic eventration. ( 25705293 )
2014
25
A simple thoracoscopic plication technique for diaphragmatic eventration in neonates and infants: technical details and initial results. ( 25139157 )
2014
26
A simple technique for thoracoscopic treatment of diaphragmatic eventration. ( 24069985 )
2013
27
Diaphragmatic eventration presenting with sudden dyspnoea. ( 23598932 )
2013
28
Thoracoscopic Treatment of Congenital Diaphragmatic Eventration in Children: Lessons Learned After 15 Years of Experience. ( 23784749 )
2013
29
Right atrial compression due to diaphragmatic eventration after liver transplantation-successful treatment by diaphragmatic plication. ( 24357079 )
2013
30
Thoracoscopic plication for diaphragmatic eventration in a neonate. ( 22971706 )
2013
31
Multiple haemangiomas, diaphragmatic eventration and Beckwith-Wiedemann syndrome: an unusual association. ( 23964040 )
2013
32
Reconstruction of recurrent diaphragmatic eventration with an elongated polytetrafluoroethylene sheet. ( 23644727 )
2013
33
Pulmonary sequestration and diaphragmatic eventration in a 6-month-old infant. ( 22348498 )
2012
34
Diaphragmatic eventration and gastric volvulus treated by laparoscopic gastropexy. ( 23025683 )
2012
35
A large bulla simulating diaphragmatic eventration. Chronic obstructive pulmonary disease (COPD) with a large left lower lobe bulla. ( 22973781 )
2012
36
Diaphragmatic eventration complicated by gastric volvulus with perforation. ( 22856443 )
2012
37
Ruptured diaphragmatic eventration: a rare cause of acute postpartum dyspnea. ( 22632531 )
2012
38
Tension pneumoperitoneum complicated with tension pneumothorax in a patient with diaphragmatic eventration. ( 22604199 )
2012
39
Prenatal diagnosis of right diaphragmatic eventration associated with fetal hydrops. ( 22519886 )
2012
40
Diaphragmatic eventration misdiagnosed as dextrocardia. ( 22679318 )
2011
41
Bilateral congenital diaphragmatic eventration: an unusual cause of respiratory distress in an infant. ( 22005383 )
2011
42
Rupture of a congenital diaphragmatic eventration in a child: report of a case. ( 21969196 )
2011
43
Anesthetic management of a patient with congenital diaphragmatic eventration. ( 21626261 )
2011
44
Left diaphragmatic eventration associated with ipsilateral pulmonary sequestration and intrathoracic kidney in a fetus: reviewing the prenatal diagnosis and etiopathogenesis. ( 21434828 )
2011
45
Congenital diaphragmatic eventration in two closely related British Shorthair cats. ( 21239200 )
2011
46
Surgical repair of congenital diaphragmatic eventration in a septugerian lady. ( 20563478 )
2010
47
Tubular jejunal duplication, amelia and congenital diaphragmatic eventration in a neonate. ( 20400896 )
2010
48
Successful intentional lobectomy for lung cancer after treating contralateral diaphragmatic eventration. ( 20231308 )
2010
49
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
50
An infant with diaphragmatic eventration and respiratory distress. ( 21122288 )
2010

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
Content
Loading form....