MCID: DPH006
MIFTS: 34

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 kidney, spleen and heart, and related phenotypes are behavior/neurological and growth/size/body region

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 102)
# Related Disease Score Top Affiliating Genes
1 diaphragmatic hernia, congenital 30.2 ZFPM2 STRA6 RARB FBN1 DISP1
2 hydronephrosis 30.2 WFS1 FBN1 CHN1
3 volvulus of midgut 10.5
4 pulmonary sequestration 10.4
5 pneumothorax 10.3
6 duane retraction syndrome 1 10.3 WFS1 CHN1
7 neonatal myasthenia gravis 10.2 LAS1L IGHMBP2
8 marden-walker syndrome 10.2 WFS1 FBN1 CHN1
9 fryns microphthalmia syndrome 10.2
10 cyanosis, transient neonatal 10.2
11 microphthalmia 10.2
12 megacolon 10.2
13 dextrocardia 10.2
14 virus-associated trichodysplasia spinulosa 10.2
15 autosomal recessive distal hereditary motor neuronopathy 10.2 LAS1L IGHMBP2
16 laryngomalacia 10.2 WFS1 KIF1A CHN1
17 dandy-walker syndrome 10.2 WFS1 KIF1A CHN1
18 cutis laxa, autosomal recessive, type ib 10.2 LTBP4 FBN1
19 cutis laxa, autosomal recessive, type ia 10.1 LTBP4 FBN1
20 spinal muscular atrophy, distal, autosomal recessive, 1 10.1 LAS1L IGHMBP2
21 hernia, hiatus 10.1
22 hydrops fetalis, nonimmune 10.1
23 microphthalmia, syndromic 9 10.1
24 gastrointestinal ulceration, recurrent, with dysfunctional platelets 10.1
25 respiratory failure 10.1
26 heart disease 10.1
27 compartment syndrome 10.1
28 immune hydrops fetalis 10.1
29 autosomal recessive cutis laxa type i 10.1 LTBP4 FBN1
30 autosomal recessive cutis laxa type ii classic type 10.1 LTBP4 FBN1
31 arterial tortuosity syndrome 10.0 LTBP4 FBN1
32 donnai-barrow syndrome 10.0 ZFPM2 STRA6
33 patent foramen ovale 10.0 ZFPM2 LTBP4 FBN1
34 anterior horn cell disease 10.0 TSEN54 IGHMBP2
35 exotropia 10.0 FBN1 CHN1
36 gastroesophageal reflux 10.0
37 beckwith-wiedemann syndrome 10.0
38 hair whorl 10.0
39 marfan syndrome 10.0
40 pectus excavatum 10.0
41 pneumothorax, primary spontaneous 10.0
42 renal hypodysplasia/aplasia 1 10.0
43 wolff-parkinson-white syndrome 10.0
44 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.0
45 cryptorchidism, unilateral or bilateral 10.0
46 fryns syndrome 10.0
47 batten-turner congenital myopathy 10.0
48 polydactyly 10.0
49 ventricular fibrillation, paroxysmal familial, 1 10.0
50 pulmonary disease, chronic obstructive 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 behavior/neurological MP:0005386 10.14 CHN1 FBN1 IGHMBP2 KIF1A LTBP4 MBD5
2 growth/size/body region MP:0005378 10.1 CHN1 DISP1 FBN1 IGHMBP2 KIF1A LTBP4
3 cellular MP:0005384 10.07 CHN1 DISP1 FBN1 IGHMBP2 LTBP4 OXR1
4 mortality/aging MP:0010768 10.03 CHN1 DISP1 FBN1 IGHMBP2 KIF1A LTBP4
5 integument MP:0010771 9.86 FBN1 KIF1A LTBP4 MBD5 PIK3CA SMOC1
6 muscle MP:0005369 9.56 CHN1 DISP1 FBN1 IGHMBP2 LTBP4 PIK3CA
7 nervous system MP:0003631 9.36 CHN1 DISP1 FBN1 IGHMBP2 KIF1A MBD5

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 Sonographic Assessment of the Diaphragm After Plication in Adults With Unilateral Eventration: a Two-centre Experience Completed NCT04052295
2 Genetic Analysis of Congenital Diaphragmatic Disorders Suspended 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
Kidney, Spleen, Heart, Small Intestine, Colon, Skin, Caudate Nucleus

Publications for Diaphragmatic Eventration

Articles related to Diaphragmatic Eventration:

(show top 50) (show all 433)
# Title Authors PMID Year
1
Laparoscopic Surgery Applying an Endostaple and Mesh for Adult Diaphragmatic Eventration. 61
32693035 2021
2
Three-dimensional reconstruction model in the diagnosis of Morgagni's hernia. 61
33558384 2021
3
Reinforcing the vascular disruption theory of the genesis of Poland's syndrome: a rare association of diaphragmatic eventration in a preterm infant with severe musculoskeletal defects. 61
33509875 2021
4
Diaphragmatic plication for diaphragmatic eventration caused by chronic constipation: a case report. 61
33454855 2021
5
Fetal Diaphragmatic Eventration: A Case Report. 61
33412306 2021
6
Robot-assisted thoracoscopic plication for diaphragmatic eventration. 61
32711940 2020
7
Modified sequential sac ligation and staged closure technique for the management of giant omphalocele. 61
33386134 2020
8
Surgical treatment of 125 cases of congenital diaphragmatic eventration in a single institution. 61
33148241 2020
9
Eventration of right diaphragm with an intrathoracic ectopic kidney: A case report. 61
32774850 2020
10
Uniportal Video-Assisted Thoracoscopic Stapled Resection of Adult Diaphragmatic Eventration. 61
32283086 2020
11
Is the pleating technique superior to the invaginating technique for plication of diaphragmatic eventration in infants? 61
32792164 2020
12
Laparoscopic stapled resection/plication of left hemi-diaphragmatic eventration in an adult. 61
31297961 2020
13
Thoracic versus abdominal approach to correct diaphragmatic eventration in children. 61
32381289 2020
14
Perinatal diagnosis and management of early-onset Marfan syndrome: case report and systematic review. 61
30652519 2020
15
Congenital diaphragmatic eventration and hernia sac compared to CDH with true defects: a retrospective cohort study. 61
31965300 2020
16
Thoracoscopic repair of diaphragmatic eventration in children: a comparison of two repair techniques. 61
31937447 2020
17
Study of Thoracoscopic Repair of Diaphragmatic Eventration in Children: A Case Series. 61
32155102 2020
18
Case report of eventration of diaphragm due to an unknown febrile illness causing phrenic nerve palsy and other multiple nerve palsies. 61
32382413 2020
19
Paternal mosaicism for a novel PBX1 mutation associated with recurrent perinatal death: Phenotypic expansion of the PBX1-related syndrome. 61
32141698 2020
20
Double purse-string suturing: An easy plication technique in thoracoscopic repair of diaphragmatic eventration. 61
31761455 2020
21
Novel features of PIK3CA-Related Overgrowth Spectrum: Lesson from an aborted fetus presenting a de novo constitutional PIK3CA mutation. 61
31568861 2020
22
Thoracoabdominal compartment syndrome complicating right-sided diaphragmatic eventration with co-existent unilateral renal agenesis. 61
33344275 2020
23
Prenatal diagnosis of Marfan syndrome by fetal echocardiography: A case report and review of cardiovascular manifestations. 61
31879971 2020
24
Thoracic versus abdominal approach to correct diaphragmatic eventration in children. 61
31761454 2020
25
Diaphragm ultrasound examination for congenital diaphragmatic eventration in two premature neonates. 61
32019758 2020
26
Hepato-cardiac juxtaposition secondary to right hemi-diaphragmatic eventration on 99mTc-Sestamibi myocardial perfusion scintigraphy. 61
31970679 2020
27
Congenital diaphragmatic eventration with absent left phrenic nerve in the fetal pig. 61
31414371 2020
28
Rare, Everted Liver in a Patient With Diaphragmatic Eventration. 61
30196165 2019
29
Congenital right diaphragmatic hernia in an adult. 61
31908759 2019
30
Congenital Cystic Diaphragm with Diaphragmatic Eventration in a Fetus: A Case Presentation. 61
30912683 2019
31
Acquired Localized Diaphragmatic Eventration with Liver Herniation. 61
30918178 2019
32
Ultrasound evaluation of right diaphragmatic eventration and hernia. 61
31139880 2019
33
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
34
Laparoscopic distal gastrectomy in a patient with gastric cancer complicated by eventration of the diaphragm: A case report. 61
30411524 2019
35
Diaphragmatic eventration unusual presentation: a novel thoracoabdominal compartment syndrome case. 61
31229982 2019
36
A strategy for pulmonary resection after contralateral diaphragm plication: a surgical case report. 61
31147850 2019
37
Diaphragmatic Pathology in Children: Not Always an Easy Diagnosis. 61
30829839 2019
38
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
39
Ultrasound-guided perioperative management of 28-month-old patient with congenital diaphragmatic eventration. 61
30800303 2019
40
Recurrent hydrothorax in a child on peritoneal dialysis: A case report and review of the literature. 61
30656030 2019
41
An Unusual Case of Cardiac Tamponade Secondary to an Elevated Right Hemidiaphragm. 61
30527167 2018
42
Bilateral congenital eventration of diaphragm: keep in mind, the other side. 61
30317202 2018
43
Incidental right-sided diaphragmatic eventration after blunt thoracoabdominal trauma. 61
30284592 2018
44
Bilateral Immediate Sequential Vitrectomy and Lensectomy for Bilateral Lens Dislocation in Severe Neonatal Marfan Syndrome. 61
30395677 2018
45
Ectopic anteriorly rotated left kidney causing diaphragmatic eventration. 61
30193529 2018
46
Symptomatic pulmonary restriction secondary to diaphragmatic eventration and megacolon in adult. 61
30054326 2018
47
A Clinical Study on Congenital Diaphragmatic Hernia in Neonates: Our Institutional Experience. 61
30050261 2018
48
A novel truncating mutation in FLNA causes periventricular nodular heterotopia, Ehlers-Danlos-like collagenopathy and macrothrombocytopenia. 61
29449050 2018
49
[Plication for Diaphragmatic Eventration by Complete Video-assisted Thoracoscopic]. 61
29755069 2018
50
Anaesthetic management of an infant posted for ventricular septal defect closure with right-sided eventration of diaphragm. 61
29491520 2018

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 376498 rs1057519942 3:178921548-178921548 3:179203760-179203760
3 CHN1 NM_001822.7(CHN1):c.667G>A (p.Ala223Thr) SNV Likely pathogenic 598971 rs1558939623 2:175689207-175689207 2:174824479-174824479
4 KIF1A NM_001244008.1(KIF1A):c.3052C>T (p.His1018Tyr) 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

Cellular components related to Diaphragmatic Eventration according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 microfibril GO:0001527 8.62 LTBP4 FBN1

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of neuron apoptotic process GO:0043524 9.5 WFS1 PIK3CA OXR1
2 kidney development GO:0001822 9.43 WFS1 STRA6 FBN1
3 outflow tract septum morphogenesis GO:0003148 9.4 ZFPM2 RARB
4 regulation of multicellular organism growth GO:0040014 9.37 PIK3CA MBD5
5 embryonic digestive tract development GO:0048566 9.16 STRA6 RARB
6 embryonic eye morphogenesis GO:0048048 8.96 RARB FBN1
7 diaphragm development GO:0060539 8.62 STRA6 DISP1

Sources for Diaphragmatic Eventration

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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