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MCID: DPH006
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Diaphragmatic Eventration

Categories: Muscle diseases
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Genes Variations Tissues Related diseases Publications
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Aliases & Classifications for Diaphragmatic Eventration

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MalaCards integrated aliases for Diaphragmatic Eventration:

Name: Diaphragmatic Eventration 11 5 43 14 16

Classifications:

MalaCards categories:
Anatomical: Muscle diseases
See all MalaCards categories (disease lists)
ICD10: 31


External Ids:

Disease Ontology 11 DOID:10480
MeSH 43 D003965
NCIt 49 C98912
SNOMED-CT 68 34168003
ICD10 31 Q79.1
UMLS 71 C0011981
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Summaries for Diaphragmatic Eventration

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MalaCards based summary: Diaphragmatic Eventration is related to spinal muscular atrophy, distal, autosomal recessive, 1 and pneumothorax, primary spontaneous. An important gene associated with Diaphragmatic Eventration is PIK3CA (Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha), and among its related pathways/superpathways is Kallmann syndrome. Affiliated tissues include liver, small intestine and caudate nucleus, and related phenotypes are nervous system and growth/size/body region
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Related Diseases for Diaphragmatic Eventration

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

(show top 50) (show all 145)
# Related Disease Score Top Affiliating Genes
1 spinal muscular atrophy, distal, autosomal recessive, 1 32.1 LAS1L IGHMBP2
2 pneumothorax, primary spontaneous 30.7 LRRC43 FBN1
3 microphthalmia, syndromic 9 30.3 STRA6 RARB MYRF
4 total anomalous pulmonary venous return 1 30.2 MYRF GATA4
5 double outlet right ventricle 30.0 ZFPM2 NR2F2 GATA4
6 cryptorchidism, unilateral or bilateral 29.3 ZFPM2 NIPBL LHCGR GATA4
7 diaphragmatic hernia, congenital 29.1 ZFPM2 STRA6 RARB PORCN NR2F2 NIPBL
8 diverticulosis of bowel, hernia, and retinal detachment 11.2
9 marphanoid syndrome type de silva 11.2
10 volvulus of midgut 10.6
11 enterocele 10.5
12 pulmonary sequestration 10.4
13 pneumothorax 10.4
14 respiratory failure 10.3
15 virus-associated trichodysplasia spinulosa 10.3
16 duane retraction syndrome 1 10.3 WFS1 CHN1
17 hernia, hiatus 10.3
18 megacolon 10.3
19 dextrocardia 10.3
20 testicular thecoma 10.2 ZFPM2 GATA4
21 45,x/46,xy mixed gonadal dysgenesis 10.2 ZFPM2 GATA4
22 fryns microphthalmia syndrome 10.2
23 microphthalmia 10.2
24 46,xy partial gonadal dysgenesis 10.2 ZFPM2 GATA4
25 donnai-barrow syndrome 10.2 ZFPM2 STRA6 MYRF
26 46,xy sex reversal 9 10.2 ZFPM2 GATA4
27 congenital heart defects, multiple types, 4 10.2 NR2F2 GATA4
28 autosomal recessive distal hereditary motor neuronopathy 10.2 LAS1L IGHMBP2
29 gastroesophageal reflux 10.1
30 wolff-parkinson-white syndrome 10.1
31 hydrops fetalis, nonimmune 10.1
32 heart disease 10.1
33 mitral valve insufficiency 10.1
34 spontaneous tension pneumothorax 10.1
35 splenic infarction 10.1
36 bronchitis 10.1
37 compartment syndrome 10.1
38 wandering spleen 10.1
39 immune hydrops fetalis 10.1
40 patent ductus arteriosus 1 10.1 ZFPM2 GATA4 FBN1
41 tricuspid atresia 10.1 ZFPM2 GATA4
42 atrioventricular septal defect 10.1 ZFPM2 NR2F2 GATA4
43 ventricular septal defect 10.1 ZFPM2 NR2F2 GATA4
44 hypoplastic left heart syndrome 10.1 ZFPM2 NR2F2 GATA4
45 laryngomalacia 10.1 WFS1 CHN1
46 patent foramen ovale 10.0 HLX GATA4 FBN1
47 microphthalmia, syndromic 12 10.0 STRA6 RARB DISP1
48 autosomal dominant intellectual developmental disorder 31 10.0 NIPBL MBD5
49 contractural arachnodactyly, congenital 10.0
50 beckwith-wiedemann syndrome 10.0

Graphical network of the top 20 diseases related to Diaphragmatic Eventration:



Diseases related to Diaphragmatic Eventration
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Symptoms & Phenotypes for Diaphragmatic Eventration

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GenomeRNAi Phenotypes related to Diaphragmatic Eventration according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.15 CHN1 DISP1 FBN1 GATA4 HLX IGHMBP2
2 no effect GR00402-S-2 10.15 CHN1 DISP1 GATA4 HLX IGHMBP2 LAS1L

MGI Mouse Phenotypes related to Diaphragmatic Eventration:

45 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.46 CHN1 DISP1 FBN1 GATA4 GRID1 HLX
2 growth/size/body region MP:0005378 10.4 CHN1 DISP1 FBN1 GATA4 GRID1 HLX
3 homeostasis/metabolism MP:0005376 10.32 CHN1 DISP1 FBN1 GATA4 HLX IGHMBP2
4 endocrine/exocrine gland MP:0005379 10.26 DISP1 FBN1 GATA4 HLX LHCGR MBD5
5 muscle MP:0005369 10.25 CHN1 DISP1 FBN1 GATA4 HLX IGHMBP2
6 adipose tissue MP:0005375 10.13 CHN1 FBN1 LHCGR MBD5 NIPBL PIK3CA
7 digestive/alimentary MP:0005381 10.13 DISP1 GATA4 HLX IGHMBP2 LHCGR NR2F2
8 embryo MP:0005380 10.11 DISP1 FBN1 GATA4 NIPBL NR2F2 PIK3CA
9 cellular MP:0005384 10.11 CHN1 DISP1 FBN1 GATA4 IGHMBP2 LHCGR
10 limbs/digits/tail MP:0005371 10.08 DISP1 FBN1 GATA4 MBD5 NIPBL PORCN
11 cardiovascular system MP:0005385 10.06 DISP1 FBN1 GATA4 IGHMBP2 LHCGR NIPBL
12 pigmentation MP:0001186 9.97 FBN1 MYRF NR2F2 PORCN STRA6
13 craniofacial MP:0005382 9.95 DISP1 FBN1 MBD5 NIPBL PORCN RARB
14 skeleton MP:0005390 9.9 DISP1 FBN1 GATA4 GRID1 IGHMBP2 MBD5
15 respiratory system MP:0005388 9.86 DISP1 FBN1 GATA4 HLX IGHMBP2 LHCGR
16 vision/eye MP:0005391 9.7 CHN1 DISP1 IGHMBP2 MBD5 MYRF NIPBL
17 mortality/aging MP:0010768 9.53 CHN1 DISP1 FBN1 GATA4 HLX IGHMBP2
Sources

Drugs & Therapeutics for Diaphragmatic Eventration

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Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Paediatric Treatment of Diaphragmatic Eventrations in France: Management Strategies and Long-term Results : an Observational Study. Not yet recruiting NCT04862494
2 Genetic Analysis of Congenital Diaphragmatic Disorders Suspended NCT01243229

Search NIH Clinical Center for Diaphragmatic Eventration

Cochrane evidence based reviews: diaphragmatic eventration

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Genetic Tests for Diaphragmatic Eventration

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Anatomical Context for Diaphragmatic Eventration

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Organs/tissues related to Diaphragmatic Eventration:

MalaCards : Liver, Small Intestine, Caudate Nucleus, Spleen, Kidney, Heart, Lung
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Publications for Diaphragmatic Eventration

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Articles related to Diaphragmatic Eventration:

(show top 50) (show all 460)
# Title Authors PMID Year
1
Novel features of PIK3CA-Related Overgrowth Spectrum: Lesson from an aborted fetus presenting a de novo constitutional PIK3CA mutation. 62 5
31568861 2020
2
Congenital diaphragmatic eventration with pulmonary dysplasia in Frasier syndrome due to a WT1 mutation of c.1432+5(IVS9)G>A. 62
36341869 2022
3
MYRF-Related Cardiac Urogenital Syndrome 62
36375006 2022
4
ALDH1A2-related disorder: A new genetic syndrome due to alteration of the retinoic acid pathway. 62
36263470 2022
5
High insertion of the right diaphragm complicated with congenital diaphragmatic hernia: A case report of rare thoracoscopic findings. 62
35726353 2022
6
Diaphragmatic eventration complicated by gastric volvulus. 62
36196995 2022
7
Challenge of a therapeutic sequence: rare case of heart failure in mitral valvular disease intensified by an extreme mediastinal shift from major diaphragmatic eventration. 62
35920785 2022
8
Diaphragmatic Eventration and Positive Pressure Ventilation. 62
35584323 2022
9
Confirmation of pleural displacement of central venous catheter tip in an infant, by bedside contrast injection. 62
35915562 2022
10
Idiopathic megacolon complicated by life-threatening giant megacolon and respiratory failure due to diaphragmatic eventration: A case report. 62
35809478 2022
11
Intractable Hiccups Caused by Diaphragmatic Eventration. 62
35637802 2022
12
An Infant with Congenital Diaphragmatic Eventration with Dextrocardia: A Case Report. 62
35633268 2022
13
Parvovirus B19 Intrauterine Infection and Eventration of the Diaphragm. 62
35248165 2022
14
Diaphragmatic Pathology in Children: Not Always an Easy Diagnosis. 62
30829839 2021
15
Diaphragmatic eventration as a first sign of Scimitar syndrome. 62
33941297 2021
16
Heart on the left, diaphragm on the right: A case of congenital diaphragmatic eventration. 62
34849225 2021
17
[Thoracoscopic Plication for Congenital Diaphragmatic Eventration in an Adult]. 62
34601476 2021
18
The feasibility and safety of same-day surgery for diaphragmatic eventration by minithoracotomy in children. 62
33864497 2021
19
Comparative Study of Thoracoscopic and Modified Small Incision Repair for Congenital Diaphragmatic Eventration in Children. 62
34357803 2021
20
Fetal Congenital Diaphragmatic Hernia and Hydramnios in a Quarter Horse Mare. 62
34679031 2021
21
Modified sequential sac ligation and staged closure technique for the management of giant omphalocele. 62
33386134 2021
22
Trisomy 9 mosaic syndrome: Sixteen additional patients with new and/or less commonly reported features, literature review, and suggested clinical guidelines. 62
33969943 2021
23
Fetal Diaphragmatic Eventration: A Case Report. 62
33412306 2021
24
Congenital right diaphragmatic defects: Our institutional experience. 62
34341195 2021
25
Laparoscopic management of gastric volvulus, diaphragmatic eventration and wandering spleen in a child. 62
34162614 2021
26
Is the pleating technique superior to the invaginating technique for plication of diaphragmatic eventration in infants? 62
32792164 2021
27
Diffuse neurofibroma of the chest and abdominal wall invading the diaphragm leads to diaphragmatic eventration: case report. 62
34030682 2021
28
Hepato-cardiac juxtaposition secondary to right hemi-diaphragmatic eventration on 99mTc-Sestamibi myocardial perfusion scintigraphy. 62
31970679 2021
29
Diaphragmatic plication for diaphragmatic eventration caused by chronic constipation: a case report. 62
33454855 2021
30
Three-dimensional reconstruction model in the diagnosis of Morgagni's hernia. 62
33558384 2021
31
Laparoscopic Surgery Applying an Endostaple and Mesh for Adult Diaphragmatic Eventration. 62
32693035 2021
32
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. 62
33509875 2021
33
Eventeration of diaphragm with Chilaiditi sign - A rare occurrence. 62
34401313 2021
34
Robot-assisted thoracoscopic plication for diaphragmatic eventration. 62
32711940 2020
35
Surgical treatment of 125 cases of congenital diaphragmatic eventration in a single institution. 62
33148241 2020
36
Eventration of right diaphragm with an intrathoracic ectopic kidney: A case report. 62
32774850 2020
37
Uniportal Video-Assisted Thoracoscopic Stapled Resection of Adult Diaphragmatic Eventration. 62
32283086 2020
38
Thoracic versus abdominal approach to correct diaphragmatic eventration in children. 62
32381289 2020
39
Laparoscopic stapled resection/plication of left hemi-diaphragmatic eventration in an adult. 62
31297961 2020
40
Perinatal diagnosis and management of early-onset Marfan syndrome: case report and systematic review. 62
30652519 2020
41
Congenital diaphragmatic eventration and hernia sac compared to CDH with true defects: a retrospective cohort study. 62
31965300 2020
42
Study of Thoracoscopic Repair of Diaphragmatic Eventration in Children: A Case Series. 62
32155102 2020
43
Thoracoscopic repair of diaphragmatic eventration in children: a comparison of two repair techniques. 62
31937447 2020
44
Case report of eventration of diaphragm due to an unknown febrile illness causing phrenic nerve palsy and other multiple nerve palsies. 62
32382413 2020
45
Double purse-string suturing: An easy plication technique in thoracoscopic repair of diaphragmatic eventration. 62
31761455 2020
46
Paternal mosaicism for a novel PBX1 mutation associated with recurrent perinatal death: Phenotypic expansion of the PBX1-related syndrome. 62
32141698 2020
47
Thoracoabdominal compartment syndrome complicating right-sided diaphragmatic eventration with co-existent unilateral renal agenesis. 62
33344275 2020
48
Phrenic Nerve Blockade to Diagnose and Treat Diaphragmatic Pain After Surgical Repair of Congenital Diaphragmatic Eventration. 62
34434373 2020
49
Thoracic versus abdominal approach to correct diaphragmatic eventration in children. 62
31761454 2020
50
Prenatal diagnosis of Marfan syndrome by fetal echocardiography: A case report and review of cardiovascular manifestations. 62
31879971 2020
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Variations for Diaphragmatic Eventration

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ClinVar genetic disease variations for Diaphragmatic Eventration:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PIK3CA NM_006218.4(PIK3CA):c.1030G>A (p.Val344Met) SNV Pathogenic
 376498 rs1057519942 GRCh37: 3:178921548-178921548
GRCh38: 3:179203760-179203760
2 WFS1 NM_006005.3(WFS1):c.1999C>T (p.Gln667Ter) SNV Pathogenic
 598973 rs771409809 GRCh37: 4:6303521-6303521
GRCh38: 4:6301794-6301794
3 CHN1 NM_001822.7(CHN1):c.667G>A (p.Ala223Thr) SNV Likely Pathogenic
 598971 rs1558939623 GRCh37: 2:175689207-175689207
GRCh38: 2:174824479-174824479
4 KIF1A NM_001244008.2(KIF1A):c.3052C>T (p.His1018Tyr) SNV Uncertain Significance
 598972 rs1356639316 GRCh37: 2:241686664-241686664
GRCh38: 2:240747247-240747247
5 overlap with 15 genes GRCh38/hg38 17q12(chr17:36719878-37889304) CN LOSS Uncertain Significance
 1338823 GRCh37:
GRCh38: 17:36719878-37889304
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Expression for Diaphragmatic Eventration

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Search GEO for disease gene expression data for Diaphragmatic Eventration.
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Pathways for Diaphragmatic Eventration

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Pathways related to Diaphragmatic Eventration according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Kallmann syndrome 74
9.95 PIK3CA MYRF
Sources

GO Terms for Diaphragmatic Eventration

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

# Name GO ID Score Top Affiliating Genes
1 cognition GO:0050890 9.73 STRA6 NIPBL LHCGR
2 embryonic eye morphogenesis GO:0048048 9.67 RARB FBN1
3 diaphragm development GO:0060539 9.62 STRA6 DISP1
4 heart development GO:0007507 9.56 ZFPM2 STRA6 NIPBL GATA4 FBN1
5 uterus morphogenesis GO:0061038 9.46 STRA6 NIPBL
6 system development GO:0048731 9.4 ZFPM2 GATA4
7 animal organ development GO:0048513 8.8 ZFPM2 HLX GATA4

Molecular functions related to Diaphragmatic Eventration according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.28 RARB NR2F2 MYRF HLX GATA4
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Sources for Diaphragmatic Eventration

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2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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