MCID: DPH006
MIFTS: 32

Diaphragmatic Eventration

Categories: Muscle diseases

Aliases & Classifications for Diaphragmatic Eventration

Summaries for Diaphragmatic Eventration

MalaCards based summary : Diaphragmatic Eventration is related to intestinal volvulus and diaphragmatic hernia, congenital. An important gene associated with Diaphragmatic Eventration is WFS1 (Wolframin ER Transmembrane Glycoprotein). The drug Anesthetics has been mentioned in the context of this disorder. Affiliated tissues include liver, kidney and lung, and related phenotypes are growth/size/body region and adipose tissue

Related Diseases for Diaphragmatic Eventration

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

(show top 50) (show all 86)
# Related Disease Score Top Affiliating Genes
1 intestinal volvulus 10.6
2 diaphragmatic hernia, congenital 10.5
3 pulmonary sequestration 10.5
4 pneumothorax 10.4
5 fryns microphthalmia syndrome 10.3
6 cyanosis, transient neonatal 10.3
7 microphthalmia 10.3
8 dextrocardia 10.3
9 virus-associated trichodysplasia spinulosa 10.3
10 hernia, hiatus 10.2
11 hydrops fetalis, nonimmune 10.2
12 microphthalmia, syndromic 9 10.2
13 pulmonary hypertension 10.2
14 respiratory failure 10.2
15 megacolon 10.2
16 heart disease 10.2
17 fetal edema 10.2
18 hydrops fetalis 10.2
19 immune hydrops fetalis 10.2
20 gastroesophageal reflux 10.0
21 beckwith-wiedemann syndrome 10.0
22 hair whorl 10.0
23 marfan syndrome 10.0
24 pectus excavatum 10.0
25 pneumothorax, primary spontaneous 10.0
26 thrombophilia due to thrombin defect 10.0
27 wolff-parkinson-white syndrome 10.0
28 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.0
29 cryptorchidism, unilateral or bilateral 10.0
30 fryns syndrome 10.0
31 polydactyly 10.0
32 ventricular fibrillation, paroxysmal familial, 1 10.0
33 meningioma, radiation-induced 10.0
34 pulmonary disease, chronic obstructive 10.0
35 meningioma, familial 10.0
36 mycobacterium tuberculosis 1 10.0
37 myocardial infarction 10.0
38 lung cancer susceptibility 3 10.0
39 asparagine synthetase deficiency 10.0
40 inguinal hernia 10.0
41 gastric ulcer 10.0
42 hydronephrosis 10.0
43 spinal meningioma 10.0
44 pulmonary edema 10.0
45 hemopericardium 10.0
46 mitral valve insufficiency 10.0
47 pericardial effusion 10.0
48 bronchopneumonia 10.0
49 quadriplegia 10.0
50 echinococcosis 10.0

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 9.35 CHN1 FBN1 KIF1A STRA6 WFS1
2 adipose tissue MP:0005375 9.33 CHN1 FBN1 STRA6
3 mortality/aging MP:0010768 9.02 CHN1 FBN1 KIF1A STRA6 WFS1

Drugs & Therapeutics for Diaphragmatic Eventration

Drugs for Diaphragmatic Eventration (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Anesthetics

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Efficacy of Diaphragmatic Plication in Patients With Unilateral Diaphragmatic Paralysis; a Two-centre Experience Completed NCT04052295
2 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, Lung, Heart, Spleen, Colon, Small Intestine

Publications for Diaphragmatic Eventration

Articles related to Diaphragmatic Eventration:

(show top 50) (show all 404)
# Title Authors PMID Year
1
Congenital diaphragmatic eventration with absent left phrenic nerve in the fetal pig. 38
31414371 2019
2
Congenital Cystic Diaphragm with Diaphragmatic Eventration in a Fetus: A Case Presentation. 38
30912683 2019
3
Laparoscopic stapled resection/plication of left hemi-diaphragmatic eventration in an adult. 38
31297961 2019
4
Ultrasound evaluation of right diaphragmatic eventration and hernia. 38
31139880 2019
5
Clinical and molecular characterization of an 18-month-old infant with autosomal recessive cutis laxa type 1C due to a novel LTBP4 pathogenic variant, and literature review. 38
31115174 2019
6
Laparoscopic distal gastrectomy in a patient with gastric cancer complicated by eventration of the diaphragm: A case report. 38
30411524 2019
7
Acquired Localized Diaphragmatic Eventration with Liver Herniation. 38
30918178 2019
8
Diaphragmatic eventration unusual presentation: a novel thoracoabdominal compartment syndrome case. 38
31229982 2019
9
A strategy for pulmonary resection after contralateral diaphragm plication: a surgical case report. 38
31147850 2019
10
Diaphragmatic Pathology in Children: Not Always an Easy Diagnosis. 38
30829839 2019
11
Microphthalmia Syndrome 9: Case Report of a Newborn Baby with Pulmonary Hypoplasia, Diaphragmatic Eventration, Microphthalmia, Cardiac Defect and Severe Primary Pulmonary Hypertension. 38
30880327 2019
12
Perinatal diagnosis and management of early-onset Marfan syndrome: case report and systematic review. 38
30652519 2019
13
Ultrasound-guided perioperative management of 28-month-old patient with congenital diaphragmatic eventration. 38
30800303 2019
14
Recurrent hydrothorax in a child on peritoneal dialysis: A case report and review of the literature. 38
30656030 2019
15
An Unusual Case of Cardiac Tamponade Secondary to an Elevated Right Hemidiaphragm. 38
30527167 2018
16
Bilateral congenital eventration of diaphragm: keep in mind, the other side. 38
30317202 2018
17
Incidental right-sided diaphragmatic eventration after blunt thoracoabdominal trauma. 38
30284592 2018
18
Bilateral Immediate Sequential Vitrectomy and Lensectomy for Bilateral Lens Dislocation in Severe Neonatal Marfan Syndrome. 38
30395677 2018
19
Ectopic anteriorly rotated left kidney causing diaphragmatic eventration. 38
30193529 2018
20
Everted Liver Secondary to Diaphragmatic Eventration: A Very Rare Presentation. 38
30196165 2018
21
Symptomatic pulmonary restriction secondary to diaphragmatic eventration and megacolon in adult. 38
30054326 2018
22
A Clinical Study on Congenital Diaphragmatic Hernia in Neonates: Our Institutional Experience. 38
30050261 2018
23
A novel truncating mutation in FLNA causes periventricular nodular heterotopia, Ehlers-Danlos-like collagenopathy and macrothrombocytopenia. 38
29449050 2018
24
[Plication for Diaphragmatic Eventration by Complete Video-assisted Thoracoscopic]. 38
29755069 2018
25
[The role of fetal magnetic resonance imaging in the study of congenital diaphragmatic hernia]. 38
29419953 2018
26
Anaesthetic management of an infant posted for ventricular septal defect closure with right-sided eventration of diaphragm. 38
29491520 2018
27
Right Diaphragmatic Eventration with an Intrathoracic Kidney: Case Report and Review of the Literature. 38
30631630 2018
28
Congenital Diaphragmatic Hernia and Diaphragmatic Eventration. 38
29127959 2017
29
Diaphragmatic eventration presenting as a recurrent diaphragmatic hernia. 38
28853592 2017
30
Thoracoscopic Diaphragmatic Plication for Eventration in Pregnant Woman: A Case Report. 38
28892984 2017
31
New technique of diaphragmatic plication by means of uniportal video-assisted thoracoscopic surgery. 38
28379365 2017
32
Rare presentation of 6q16.3 microdeletion syndrome with severe upper limb reduction defects and duodenal atresia. 38
28588837 2017
33
Intrathoracic Gastric Volvulus presenting with GIT Bleed. 38
28770137 2017
34
Clinical Profile of Surgical Diseases with Emergence of New Problems in HIV+ Individuals. 38
28331263 2017
35
Congenital diaphragmatic hernia causing cardiac arrest in a 30-year-old woman. 38
27869490 2017
36
Congenital diaphragmatic eventration complicated with neonatal gastric perforation. 38
29424874 2017
37
Diaphragmatic Eventration in Sisters with Asparagine Synthetase Deficiency: A Novel Homozygous ASNS Mutation and Expanded Phenotype. 38
27469131 2017
38
Atypical Neonatal Marfan Syndrome with p.Glu1073Lys Mutation of FBN1: the First Case in Korea. 38
27914124 2017
39
Congenital unilateral diaphragmatic eventration in an adult: A rare case presentation. 38
28448861 2017
40
Video-Assisted Minithoracotomy Diaphragmatic Plication: Respiratory Effects in Adults. 38
25184611 2016
41
To Sink the Lifted: Selection, Technique, and Result of Laparoscopic Diaphragmatic Plication for Paralysis or Eventration. 38
26720705 2016
42
Extralobar Pulmonary Sequestration with Accompanying Ipsilateral Diaphragmatic Eventration. 38
30454172 2016
43
Extralobar Pulmonary Sequestration with Accompanying Ipsilateral Diaphragmatic Eventration. 38
27670535 2016
44
Comparison of Mid-Term Clinical Outcomes of Different Surgical Approaches in Symptomatic Diaphragmatic Eventration. 38
27076066 2016
45
Best Approach and Benefit of Plication for Paralyzed Diaphragm. 38
27427528 2016
46
Minimally invasive surgery for diaphragmatic diseases in neonates and infants. 38
27246508 2016
47
Spinal muscular atrophy with respiratory distress syndrome (SMARD1): Case report and review of literature. 38
27570397 2016
48
VATS Diaphragm Plication. 38
27175808 2016
49
Diaphragmatic Eventration: Autopsy Case Report. 38
28465759 2016
50
[Laparoscopic gastric sleeve in gastric volvulus secondary to diaphragmatic eventration in an adult patient]. 38
26238590 2016

Variations for Diaphragmatic Eventration

ClinVar genetic disease variations for Diaphragmatic Eventration:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 WFS1 NM_006005.3(WFS1): c.1999C> T (p.Gln667Ter) single nucleotide variant Pathogenic 4:6303521-6303521 4:6301794-6301794
2 CHN1 NM_001822.5(CHN1): c.667G> A (p.Ala223Thr) single nucleotide variant Likely pathogenic 2:175689207-175689207 2:174824479-174824479
3 KIF1A NM_004321.7(KIF1A): c.2749C> T (p.His917Tyr) single nucleotide variant Uncertain significance 2:241686664-241686664 2:240747247-240747247

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 heart development GO:0007507 9.26 STRA6 FBN1
2 cellular protein metabolic process GO:0044267 9.16 WFS1 FBN1
3 camera-type eye development GO:0043010 8.96 STRA6 FBN1
4 kidney development GO:0001822 8.8 WFS1 STRA6 FBN1

Sources for Diaphragmatic Eventration

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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