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 diaphragmatic hernia, congenital and hydronephrosis. An important gene associated with Diaphragmatic Eventration is PIK3CA (Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha). The drug Anesthetics has been mentioned in the context of this disorder. Affiliated tissues include heart, liver and lung, and related phenotypes are behavior/neurological and integument

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 98)
# Related Disease Score Top Affiliating Genes
1 diaphragmatic hernia, congenital 30.9 ZFPM2 STRA6 FBN1
2 hydronephrosis 30.1 WFS1 KIF1A FBN1 CHN1
3 cryptorchidism, unilateral or bilateral 29.8 ZFPM2 PTER LAX1
4 microphthalmia, syndromic 9 29.7 STRA6 SMOC1
5 volvulus of midgut 10.6
6 pulmonary sequestration 10.4
7 pneumothorax 10.4
8 marden-walker syndrome 10.3 WFS1 FBN1
9 neonatal myasthenia gravis 10.3 LAS1L IGHMBP2
10 fryns microphthalmia syndrome 10.3
11 cyanosis, transient neonatal 10.3
12 dextrocardia 10.3
13 virus-associated trichodysplasia spinulosa 10.3
14 laryngomalacia 10.2 WFS1 KIF1A CHN1
15 dandy-walker syndrome 10.2 WFS1 KIF1A CHN1
16 diaphragm disease 10.2 ZFPM2 WFS1 STRA6
17 hernia, hiatus 10.2
18 hydrops fetalis, nonimmune 10.2
19 pulmonary hypertension 10.2
20 microphthalmia 10.2
21 respiratory failure 10.2
22 megacolon 10.2
23 heart disease 10.2
24 immune hydrops fetalis 10.2
25 spinal muscular atrophy, distal, autosomal recessive, 1 10.2 LAS1L IGHMBP2
26 donnai-barrow syndrome 10.1 ZFPM2 STRA6
27 exotropia 10.0 PTER FBN1 CHN1
28 gastroesophageal reflux 10.0
29 beckwith-wiedemann syndrome 10.0
30 hair whorl 10.0
31 marfan syndrome 10.0
32 pectus excavatum 10.0
33 pneumothorax, primary spontaneous 10.0
34 thrombophilia due to thrombin defect 10.0
35 wolff-parkinson-white syndrome 10.0
36 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.0
37 fryns syndrome 10.0
38 myopathy, congenital 10.0
39 polydactyly 10.0
40 ventricular fibrillation, paroxysmal familial, 1 10.0
41 meningioma, radiation-induced 10.0
42 pulmonary disease, chronic obstructive 10.0
43 meningioma, familial 10.0
44 mycobacterium tuberculosis 1 10.0
45 myocardial infarction 10.0
46 lung cancer susceptibility 3 10.0
47 asparagine synthetase deficiency 10.0
48 gastrointestinal ulceration, recurrent, with dysfunctional platelets 10.0
49 inguinal hernia 10.0
50 gastric ulcer 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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.85 CHN1 FBN1 IGHMBP2 KIF1A LTBP4 MBD5
2 integument MP:0010771 9.56 FBN1 KIF1A LTBP4 MBD5 PIK3CA SMOC1
3 mortality/aging MP:0010768 9.44 BPNT1 CHN1 FBN1 IGHMBP2 KIF1A LTBP4

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:

40
Heart, Liver, Lung, Spleen, Kidney, Colon, Small Intestine

Publications for Diaphragmatic Eventration

Articles related to Diaphragmatic Eventration:

(show top 50) (show all 412)
# Title Authors PMID Year
1
Thoracic versus abdominal approach to correct diaphragmatic eventration in children. 61
31761454 2020
2
Diaphragm ultrasound examination for congenital diaphragmatic eventration in two premature neonates. 61
32019758 2020
3
Hepato-cardiac juxtaposition secondary to right hemi-diaphragmatic eventration on 99mTc-Sestamibi myocardial perfusion scintigraphy. 61
31970679 2020
4
Congenital diaphragmatic eventration with absent left phrenic nerve in the fetal pig. 61
31414371 2020
5
Congenital diaphragmatic eventration and hernia sac compared to CDH with true defects: a retrospective cohort study. 61
31965300 2020
6
Prenatal diagnosis of Marfan syndrome by fetal echocardiography: A case report and review of cardiovascular manifestations. 61
31879971 2019
7
Thoracoscopic repair of diaphragmatic eventration in children: a comparison of two repair techniques. 61
31937447 2019
8
Rare, Everted Liver in a Patient With Diaphragmatic Eventration. 61
30196165 2019
9
Congenital right diaphragmatic hernia in an adult. 61
31908759 2019
10
Double purse-string suturing: An easy plication technique in thoracoscopic repair of diaphragmatic eventration. 61
31761455 2019
11
Novel features of PIK3CA-Related Overgrowth Spectrum: Lesson from an aborted fetus presenting a de novo constitutional PIK3CA mutation. 61
31568861 2019
12
Congenital Cystic Diaphragm with Diaphragmatic Eventration in a Fetus: A Case Presentation. 61
30912683 2019
13
Laparoscopic stapled resection/plication of left hemi-diaphragmatic eventration in an adult. 61
31297961 2019
14
Ultrasound evaluation of right diaphragmatic eventration and hernia. 61
31139880 2019
15
Acquired Localized Diaphragmatic Eventration with Liver Herniation. 61
30918178 2019
16
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. 61
31115174 2019
17
Laparoscopic distal gastrectomy in a patient with gastric cancer complicated by eventration of the diaphragm: A case report. 61
30411524 2019
18
Diaphragmatic eventration unusual presentation: a novel thoracoabdominal compartment syndrome case. 61
31229982 2019
19
A strategy for pulmonary resection after contralateral diaphragm plication: a surgical case report. 61
31147850 2019
20
Diaphragmatic Pathology in Children: Not Always an Easy Diagnosis. 61
30829839 2019
21
Microphthalmia Syndrome 9: Case Report of a Newborn Baby with Pulmonary Hypoplasia, Diaphragmatic Eventration, Microphthalmia, Cardiac Defect and Severe Primary Pulmonary Hypertension. 61
30880327 2019
22
Perinatal diagnosis and management of early-onset Marfan syndrome: case report and systematic review. 61
30652519 2019
23
Ultrasound-guided perioperative management of 28-month-old patient with congenital diaphragmatic eventration. 61
30800303 2019
24
Recurrent hydrothorax in a child on peritoneal dialysis: A case report and review of the literature. 61
30656030 2019
25
An Unusual Case of Cardiac Tamponade Secondary to an Elevated Right Hemidiaphragm. 61
30527167 2018
26
Bilateral congenital eventration of diaphragm: keep in mind, the other side. 61
30317202 2018
27
Incidental right-sided diaphragmatic eventration after blunt thoracoabdominal trauma. 61
30284592 2018
28
Bilateral Immediate Sequential Vitrectomy and Lensectomy for Bilateral Lens Dislocation in Severe Neonatal Marfan Syndrome. 61
30395677 2018
29
Ectopic anteriorly rotated left kidney causing diaphragmatic eventration. 61
30193529 2018
30
Symptomatic pulmonary restriction secondary to diaphragmatic eventration and megacolon in adult. 61
30054326 2018
31
A Clinical Study on Congenital Diaphragmatic Hernia in Neonates: Our Institutional Experience. 61
30050261 2018
32
A novel truncating mutation in FLNA causes periventricular nodular heterotopia, Ehlers-Danlos-like collagenopathy and macrothrombocytopenia. 61
29449050 2018
33
[Plication for Diaphragmatic Eventration by Complete Video-assisted Thoracoscopic]. 61
29755069 2018
34
Anaesthetic management of an infant posted for ventricular septal defect closure with right-sided eventration of diaphragm. 61
29491520 2018
35
[The role of fetal magnetic resonance imaging in the study of congenital diaphragmatic hernia]. 61
29419953 2018
36
Right Diaphragmatic Eventration with an Intrathoracic Kidney: Case Report and Review of the Literature. 61
30631630 2018
37
Congenital Diaphragmatic Hernia and Diaphragmatic Eventration. 61
29127959 2017
38
Diaphragmatic eventration presenting as a recurrent diaphragmatic hernia. 61
28853592 2017
39
Thoracoscopic Diaphragmatic Plication for Eventration in Pregnant Woman: A Case Report. 61
28892984 2017
40
New technique of diaphragmatic plication by means of uniportal video-assisted thoracoscopic surgery. 61
28379365 2017
41
Rare presentation of 6q16.3 microdeletion syndrome with severe upper limb reduction defects and duodenal atresia. 61
28588837 2017
42
Intrathoracic Gastric Volvulus presenting with GIT Bleed. 61
28770137 2017
43
Congenital diaphragmatic hernia causing cardiac arrest in a 30-year-old woman. 61
27869490 2017
44
Congenital diaphragmatic eventration complicated with neonatal gastric perforation. 61
29424874 2017
45
Clinical Profile of Surgical Diseases with Emergence of New Problems in HIV+ Individuals. 61
28331263 2017
46
Diaphragmatic Eventration in Sisters with Asparagine Synthetase Deficiency: A Novel Homozygous ASNS Mutation and Expanded Phenotype. 61
27469131 2017
47
Atypical Neonatal Marfan Syndrome with p.Glu1073Lys Mutation of FBN1: the First Case in Korea. 61
27914124 2017
48
Congenital unilateral diaphragmatic eventration in an adult: A rare case presentation. 61
28448861 2017
49
Video-Assisted Minithoracotomy Diaphragmatic Plication: Respiratory Effects in Adults. 61
25184611 2016
50
To Sink the Lifted: Selection, Technique, and Result of Laparoscopic Diaphragmatic Plication for Paralysis or Eventration. 61
26720705 2016

Variations for Diaphragmatic Eventration

ClinVar genetic disease variations for Diaphragmatic Eventration:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 WFS1 NM_006005.3(WFS1):c.1999C>T (p.Gln667Ter)SNV Pathogenic 598973 rs771409809 4:6303521-6303521 4:6301794-6301794
2 PIK3CA NM_006218.4(PIK3CA):c.1030G>A (p.Val344Met)SNV Pathogenic/Likely pathogenic 376498 rs1057519942 3:178921548-178921548 3:179203760-179203760
3 CHN1 NM_001822.5(CHN1):c.667G>A (p.Ala223Thr)SNV Likely pathogenic 598971 rs1558939623 2:175689207-175689207 2:174824479-174824479
4 KIF1A NM_004321.7(KIF1A):c.2749C>T (p.His917Tyr)SNV Uncertain significance 598972 rs1356639316 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 regulation of multicellular organism growth GO:0040014 9.16 PIK3CA MBD5
2 negative regulation of neuron apoptotic process GO:0043524 9.13 WFS1 PIK3CA OXR1
3 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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