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MCID: DPH006
MIFTS: 33

Diaphragmatic Eventration

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

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MalaCards integrated aliases for Diaphragmatic Eventration:

Name: Diaphragmatic Eventration 12 6 43 15 17

Classifications:

MalaCards categories:
Anatomical: Muscle diseases
See all MalaCards categories (disease lists)
ICD10: 32


External Ids:

Disease Ontology 12 DOID:10480
MeSH 43 D003965
NCIt 49 C98912
SNOMED-CT 67 34168003
ICD10 32 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 diaphragmatic hernia, congenital and microphthalmia, syndromic 9. 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 liver, kidney and lung, and related phenotypes are behavior/neurological and mortality/aging

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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 105)
# Related Disease Score Top Affiliating Genes
1 diaphragmatic hernia, congenital 30.7 ZFPM2 STRA6 RARB
2 microphthalmia, syndromic 9 30.5 STRA6 RARB
3 hydronephrosis 30.2 WFS1 KIF1A FBN1 CHN1
4 volvulus of midgut 10.6
5 pulmonary sequestration 10.4
6 pneumothorax 10.4
7 marden-walker syndrome 10.4 WFS1 FBN1
8 virus-associated trichodysplasia spinulosa 10.3
9 neonatal myasthenia gravis 10.3 LAS1L IGHMBP2
10 laryngomalacia 10.3 WFS1 KIF1A CHN1
11 dandy-walker syndrome 10.3 WFS1 KIF1A CHN1
12 fryns microphthalmia syndrome 10.3
13 cyanosis, transient neonatal 10.3
14 microphthalmia 10.3
15 dextrocardia 10.3
16 autosomal recessive distal hereditary motor neuronopathy 10.3 LAS1L IGHMBP2
17 diaphragm disease 10.2 ZFPM2 WFS1 STRA6
18 hypermobility syndrome 10.2 LAX1 FBN1
19 hernia, hiatus 10.2
20 hydrops fetalis, nonimmune 10.2
21 pulmonary hypertension 10.2
22 respiratory failure 10.2
23 megacolon 10.2
24 heart disease 10.2
25 immune hydrops fetalis 10.2
26 spinal muscular atrophy, distal, autosomal recessive, 1 10.2 LAS1L IGHMBP2
27 cutis laxa, autosomal recessive, type ia 10.2 LTBP4 FBN1
28 bladder diverticulum 10.1 LTBP4 LAX1
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 exotropia 10.1 FBN1 CHN1
32 gastroesophageal reflux 10.0
33 beckwith-wiedemann syndrome 10.0
34 hair whorl 10.0
35 marfan syndrome 10.0
36 pectus excavatum 10.0
37 pneumothorax, primary spontaneous 10.0
38 thrombophilia due to thrombin defect 10.0
39 wolff-parkinson-white syndrome 10.0
40 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.0
41 cryptorchidism, unilateral or bilateral 10.0
42 fryns syndrome 10.0
43 myopathy, congenital 10.0
44 polydactyly 10.0
45 ventricular fibrillation, paroxysmal familial, 1 10.0
46 meningioma, radiation-induced 10.0
47 pulmonary disease, chronic obstructive 10.0
48 meningioma, familial 10.0
49 mycobacterium tuberculosis 1 10.0
50 myocardial infarction 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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MGI Mouse Phenotypes related to Diaphragmatic Eventration:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.06 CHN1 FBN1 IGHMBP2 KIF1A LTBP4 MBD5
2 mortality/aging MP:0010768 10 CHN1 FBN1 IGHMBP2 KIF1A LTBP4 MBD5
3 integument MP:0010771 9.86 FBN1 KIF1A LTBP4 MBD5 PIK3CA SMOC1
4 muscle MP:0005369 9.5 CHN1 FBN1 IGHMBP2 LTBP4 PIK3CA RARB
5 nervous system MP:0003631 9.32 CHN1 FBN1 IGHMBP2 KIF1A MBD5 OXR1
Sources

Drugs & Therapeutics for Diaphragmatic Eventration

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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

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Genetic Tests for Diaphragmatic Eventration

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Anatomical Context for Diaphragmatic Eventration

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MalaCards organs/tissues related to Diaphragmatic Eventration:

40
Liver, Kidney, Lung, Heart, Spleen, Colon, Small Intestine
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Publications for Diaphragmatic Eventration

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Articles related to Diaphragmatic Eventration:

(show top 50) (show all 417)
# Title Authors PMID Year
1
Perinatal diagnosis and management of early-onset Marfan syndrome: case report and systematic review. 61
30652519 2020
2
Congenital diaphragmatic eventration and hernia sac compared to CDH with true defects: a retrospective cohort study. 61
31965300 2020
3
Thoracoscopic repair of diaphragmatic eventration in children: a comparison of two repair techniques. 61
31937447 2020
4
Study of Thoracoscopic Repair of Diaphragmatic Eventration in Children: A Case Series. 61
32155102 2020
5
Case report of eventration of diaphragm due to an unknown febrile illness causing phrenic nerve palsy and other multiple nerve palsies. 61
32382413 2020
6
Double purse-string suturing: An easy plication technique in thoracoscopic repair of diaphragmatic eventration. 61
31761455 2020
7
Paternal mosaicism for a novel PBX1 mutation associated with recurrent perinatal death: Phenotypic expansion of the PBX1-related syndrome. 61
32141698 2020
8
Novel features of PIK3CA-Related Overgrowth Spectrum: Lesson from an aborted fetus presenting a de novo constitutional PIK3CA mutation. 61
31568861 2020
9
Thoracic versus abdominal approach to correct diaphragmatic eventration in children. 61
32381289 2020
10
Uniportal video-assisted thoracoscopic stapled resection of adult diaphragmatic eventration. 61
32283086 2020
11
Thoracic versus abdominal approach to correct diaphragmatic eventration in children. 61
31761454 2020
12
Diaphragm ultrasound examination for congenital diaphragmatic eventration in two premature neonates. 61
32019758 2020
13
Prenatal diagnosis of Marfan syndrome by fetal echocardiography: A case report and review of cardiovascular manifestations. 61
31879971 2020
14
Congenital diaphragmatic eventration with absent left phrenic nerve in the fetal pig. 61
31414371 2020
15
Hepato-cardiac juxtaposition secondary to right hemi-diaphragmatic eventration on 99mTc-Sestamibi myocardial perfusion scintigraphy. 61
31970679 2020
16
Rare, Everted Liver in a Patient With Diaphragmatic Eventration. 61
30196165 2019
17
Congenital right diaphragmatic hernia in an adult. 61
31908759 2019
18
Congenital Cystic Diaphragm with Diaphragmatic Eventration in a Fetus: A Case Presentation. 61
30912683 2019
19
Laparoscopic stapled resection/plication of left hemi-diaphragmatic eventration in an adult. 61
31297961 2019
20
Ultrasound evaluation of right diaphragmatic eventration and hernia. 61
31139880 2019
21
Acquired Localized Diaphragmatic Eventration with Liver Herniation. 61
30918178 2019
22
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
23
Laparoscopic distal gastrectomy in a patient with gastric cancer complicated by eventration of the diaphragm: A case report. 61
30411524 2019
24
Diaphragmatic eventration unusual presentation: a novel thoracoabdominal compartment syndrome case. 61
31229982 2019
25
A strategy for pulmonary resection after contralateral diaphragm plication: a surgical case report. 61
31147850 2019
26
Diaphragmatic Pathology in Children: Not Always an Easy Diagnosis. 61
30829839 2019
27
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
28
Ultrasound-guided perioperative management of 28-month-old patient with congenital diaphragmatic eventration. 61
30800303 2019
29
Recurrent hydrothorax in a child on peritoneal dialysis: A case report and review of the literature. 61
30656030 2019
30
An Unusual Case of Cardiac Tamponade Secondary to an Elevated Right Hemidiaphragm. 61
30527167 2018
31
Bilateral congenital eventration of diaphragm: keep in mind, the other side. 61
30317202 2018
32
Incidental right-sided diaphragmatic eventration after blunt thoracoabdominal trauma. 61
30284592 2018
33
Bilateral Immediate Sequential Vitrectomy and Lensectomy for Bilateral Lens Dislocation in Severe Neonatal Marfan Syndrome. 61
30395677 2018
34
Ectopic anteriorly rotated left kidney causing diaphragmatic eventration. 61
30193529 2018
35
Symptomatic pulmonary restriction secondary to diaphragmatic eventration and megacolon in adult. 61
30054326 2018
36
A Clinical Study on Congenital Diaphragmatic Hernia in Neonates: Our Institutional Experience. 61
30050261 2018
37
A novel truncating mutation in FLNA causes periventricular nodular heterotopia, Ehlers-Danlos-like collagenopathy and macrothrombocytopenia. 61
29449050 2018
38
[Plication for Diaphragmatic Eventration by Complete Video-assisted Thoracoscopic]. 61
29755069 2018
39
Anaesthetic management of an infant posted for ventricular septal defect closure with right-sided eventration of diaphragm. 61
29491520 2018
40
[The role of fetal magnetic resonance imaging in the study of congenital diaphragmatic hernia]. 61
29419953 2018
41
Right Diaphragmatic Eventration with an Intrathoracic Kidney: Case Report and Review of the Literature. 61
30631630 2018
42
Congenital Diaphragmatic Hernia and Diaphragmatic Eventration. 61
29127959 2017
43
Diaphragmatic eventration presenting as a recurrent diaphragmatic hernia. 61
28853592 2017
44
Thoracoscopic Diaphragmatic Plication for Eventration in Pregnant Woman: A Case Report. 61
28892984 2017
45
New technique of diaphragmatic plication by means of uniportal video-assisted thoracoscopic surgery. 61
28379365 2017
46
Rare presentation of 6q16.3 microdeletion syndrome with severe upper limb reduction defects and duodenal atresia. 61
28588837 2017
47
Intrathoracic Gastric Volvulus presenting with GIT Bleed. 61
28770137 2017
48
Congenital diaphragmatic hernia causing cardiac arrest in a 30-year-old woman. 61
27869490 2017
49
Congenital diaphragmatic eventration complicated with neonatal gastric perforation. 61
29424874 2017
50
Clinical Profile of Surgical Diseases with Emergence of New Problems in HIV+ Individuals. 61
28331263 2017
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Variations for Diaphragmatic Eventration

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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_001822.7(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
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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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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 negative regulation of neuron apoptotic process GO:0043524 9.43 WFS1 PIK3CA OXR1
2 regulation of multicellular organism growth GO:0040014 9.37 PIK3CA MBD5
3 kidney development GO:0001822 9.33 WFS1 STRA6 FBN1
4 outflow tract septum morphogenesis GO:0003148 9.32 ZFPM2 RARB
5 embryonic digestive tract development GO:0048566 8.96 STRA6 RARB
6 embryonic eye morphogenesis GO:0048048 8.62 RARB FBN1
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Sources for Diaphragmatic Eventration

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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
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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