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 pulmonary sequestration. An important gene associated with Diaphragmatic Eventration is WFS1 (Wolframin ER Transmembrane Glycoprotein), and among its related pathways/superpathways is Hypothesized Pathways in Pathogenesis of Cardiovascular Disease. Affiliated tissues include heart, lung and liver, and related phenotypes are behavior/neurological and cardiovascular system

Related Diseases for Diaphragmatic Eventration

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

(show all 47)
# Related Disease Score Top Affiliating Genes
1 diaphragmatic hernia, congenital 30.3 PAX3 STRA6 TEF ZFPM2
2 pulmonary sequestration 10.3
3 microphthalmia 10.2
4 intestinal volvulus 10.2
5 aortic aneurysm, familial thoracic 2 10.2 FBN1 FLNA
6 tracheal stenosis 10.2 FBN1 TEF
7 hernia, hiatus 10.2
8 fryns microphthalmia syndrome 10.2
9 microphthalmia, syndromic 9 10.2
10 heart disease 10.2
11 dextrocardia 10.2
12 anterior spinal artery syndrome 10.1 FBN1 KANTR
13 beckwith-wiedemann syndrome 10.0
14 hypertension, essential 10.0
15 marfan syndrome 10.0
16 wolff-parkinson-white syndrome 10.0
17 lung cancer 10.0
18 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.0
19 hydrops fetalis, nonimmune 10.0
20 pulmonary disease, chronic obstructive 10.0
21 myocardial infarction 10.0
22 asparagine synthetase deficiency 10.0
23 lymphatic malformation 7 10.0
24 pulmonary hypertension 10.0
25 hydronephrosis 10.0
26 respiratory failure 10.0
27 megacolon 10.0
28 hemopericardium 10.0
29 pericardial effusion 10.0
30 pneumothorax 10.0
31 situs inversus 10.0
32 fetal edema 10.0
33 hydrops fetalis 10.0
34 lipoblastoma 10.0
35 immune hydrops fetalis 10.0
36 neonatal marfan syndrome 10.0
37 acute anterolateral myocardial infarction 10.0 KANTR PIK3C2A
38 anus disease 10.0 KANTR TEF
39 posterior myocardial infarction 10.0 KANTR PIK3C2A
40 anteroseptal myocardial infarction 10.0 KANTR PIK3C2A
41 branch retinal artery occlusion 9.9 KANTR PAX3
42 toxic myocarditis 9.9 KANTR PIK3C2A
43 rectal disease 9.9 KANTR TEF
44 diaphragm disease 9.9 PAX3 STRA6 TEF ZFPM2
45 waardenburg syndrome, type 1 9.9 PAX3 WFS1
46 tricuspid valve prolapse 9.8 EGF FBN1 PIK3C2A
47 muscular disease 9.7 IGHMBP2 PAX3 PIK3C2A

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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.11 ASNS FBN1 FLNA GABRB3 IGHMBP2 PAX3
2 cardiovascular system MP:0005385 10.09 FBN1 FLNA IGHMBP2 PAX3 PIK3C2A RARB
3 growth/size/body region MP:0005378 10.06 ASNS EGF FBN1 FLNA GABRB3 IGHMBP2
4 homeostasis/metabolism MP:0005376 9.96 AKT1S1 FBN1 FLNA IGHMBP2 PAX3 PIK3C2A
5 digestive/alimentary MP:0005381 9.91 EGF FLNA GABRB3 IGHMBP2 PAX3 RARB
6 mortality/aging MP:0010768 9.9 FBN1 FLNA GABRB3 IGHMBP2 PAX3 PIK3C2A
7 craniofacial MP:0005382 9.88 FBN1 FLNA GABRB3 PAX3 RARB STRA6
8 nervous system MP:0003631 9.65 AKT1S1 ASNS FBN1 FLNA GABRB3 IGHMBP2
9 respiratory system MP:0005388 9.1 FBN1 FLNA IGHMBP2 PAX3 RARB ZFPM2

Drugs & Therapeutics for Diaphragmatic Eventration

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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:

42
Heart, Lung, Liver, Kidney, Spleen, Caudate Nucleus, Tongue

Publications for Diaphragmatic Eventration

Articles related to Diaphragmatic Eventration:

(show top 50) (show all 132)
# Title Authors Year
1
Acquired Localized Diaphragmatic Eventration with Liver Herniation. ( 30918178 )
2019
2
Congenital Cystic Diaphragm with Diaphragmatic Eventration in a Fetus: A Case Presentation. ( 30912683 )
2019
3
Microphthalmia Syndrome 9: Case Report of a Newborn Baby with Pulmonary Hypoplasia, Diaphragmatic Eventration, Microphthalmia, Cardiac Defect and Severe Primary Pulmonary Hypertension. ( 30880327 )
2019
4
Ultrasound-guided perioperative management of 28-month-old patient with congenital diaphragmatic eventration. ( 30800303 )
2019
5
Right Diaphragmatic Eventration with an Intrathoracic Kidney: Case Report and Review of the Literature. ( 30631630 )
2018
6
Incidental right-sided diaphragmatic eventration after blunt thoracoabdominal trauma. ( 30284592 )
2018
7
Everted Liver Secondary to Diaphragmatic Eventration: A Very Rare Presentation. ( 30196165 )
2018
8
Ectopic anteriorly rotated left kidney causing diaphragmatic eventration. ( 30193529 )
2018
9
Symptomatic pulmonary restriction secondary to diaphragmatic eventration and megacolon in adult. ( 30054326 )
2018
10
Diaphragmatic Eventration in Sisters with Asparagine Synthetase Deficiency: A Novel Homozygous ASNS Mutation and Expanded Phenotype. ( 27469131 )
2017
11
Congenital diaphragmatic eventration complicated with neonatal gastric perforation. ( 29424874 )
2017
12
Congenital Diaphragmatic Hernia and Diaphragmatic Eventration. ( 29127959 )
2017
13
Diaphragmatic eventration presenting as a recurrent diaphragmatic hernia. ( 28853592 )
2017
14
Congenital unilateral diaphragmatic eventration in an adult: A rare case presentation. ( 28448861 )
2017
15
Diaphragmatic Eventration: Autopsy Case Report. ( 28465759 )
2016
16
Extralobar Pulmonary Sequestration with Accompanying Ipsilateral Diaphragmatic Eventration. ( 27670535 )
2016
17
Comparison of Mid-Term Clinical Outcomes of Different Surgical Approaches in Symptomatic Diaphragmatic Eventration. ( 27076066 )
2016
18
A rare case: Congenital thoracic ectopic kidney with diaphragmatic eventration. ( 26968290 )
2016
19
Thoracoscopic plication for diaphragmatic eventration after surgery for congenital heart disease in children. ( 25536425 )
2015
20
Diaphragmatic eventration in children: laparoscopy versus thoracoscopic plication. ( 25760817 )
2015
21
Open Transthoracic Plication of the Diaphragm for Unilateral Diaphragmatic Eventration in Infants and Children. ( 26509123 )
2015
22
Diaphragmatic eventration in children. ( 26337303 )
2015
23
Laparoscopic Diaphragmatic Hemiplication in Children with Acquired Diaphragmatic Eventration After Congenital Heart Surgery. ( 26312945 )
2015
24
Spontaneous rupture of a congenital diaphragmatic eventration in an infant. ( 25976306 )
2015
25
Congenital diaphragmatic eventration in children: 12 years' experience with 177 cases in a single institution. ( 25783408 )
2015
26
Thoracoscopic treatment of congenital diaphragmatic eventration in children: lessons learned after 15 years of experience. ( 23784749 )
2014
27
Thoracoscopic and laparoscopic plication of the hemidiaphragm is effective in the management of diaphragmatic eventration. ( 24100524 )
2014
28
Right atrial compression due to diaphragmatic eventration after liver transplantation: successful treatment by diaphragmatic plication. ( 24357079 )
2014
29
A simple thoracoscopic plication technique for diaphragmatic eventration in neonates and infants: technical details and initial results. ( 25139157 )
2014
30
Diaphragmatic eventration secondary to ectopic kidneys. ( 25175141 )
2014
31
Bilateral central vein occlusion in a case of diaphragmatic eventration. ( 25705293 )
2014
32
Multiple haemangiomas, diaphragmatic eventration and Beckwith-Wiedemann syndrome: an unusual association. ( 23964040 )
2013
33
Thoracoscopic plication for diaphragmatic eventration in a neonate. ( 22971706 )
2013
34
Diaphragmatic eventration presenting with sudden dyspnoea. ( 23598932 )
2013
35
Reconstruction of recurrent diaphragmatic eventration with an elongated polytetrafluoroethylene sheet. ( 23644727 )
2013
36
A simple technique for thoracoscopic treatment of diaphragmatic eventration. ( 24069985 )
2013
37
Pulmonary sequestration and diaphragmatic eventration in a 6-month-old infant. ( 22348498 )
2012
38
Prenatal diagnosis of right diaphragmatic eventration associated with fetal hydrops. ( 22519886 )
2012
39
Tension pneumoperitoneum complicated with tension pneumothorax in a patient with diaphragmatic eventration. ( 22604199 )
2012
40
Ruptured diaphragmatic eventration: a rare cause of acute postpartum dyspnea. ( 22632531 )
2012
41
Diaphragmatic eventration complicated by gastric volvulus with perforation. ( 22856443 )
2012
42
A large bulla simulating diaphragmatic eventration. Chronic obstructive pulmonary disease (COPD) with a large left lower lobe bulla. ( 22973781 )
2012
43
Diaphragmatic eventration and gastric volvulus treated by laparoscopic gastropexy. ( 23025683 )
2012
44
Diaphragmatic eventration misdiagnosed as dextrocardia. ( 22679318 )
2011
45
Congenital diaphragmatic eventration in two closely related British Shorthair cats. ( 21239200 )
2011
46
Left diaphragmatic eventration associated with ipsilateral pulmonary sequestration and intrathoracic kidney in a fetus: reviewing the prenatal diagnosis and etiopathogenesis. ( 21434828 )
2011
47
Anesthetic management of a patient with congenital diaphragmatic eventration. ( 21626261 )
2011
48
Rupture of a congenital diaphragmatic eventration in a child: report of a case. ( 21969196 )
2011
49
Bilateral congenital diaphragmatic eventration: an unusual cause of respiratory distress in an infant. ( 22005383 )
2011
50
An infant with diaphragmatic eventration and respiratory distress. ( 21122288 )
2010

Variations for Diaphragmatic Eventration

ClinVar genetic disease variations for Diaphragmatic Eventration:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CHN1 NM_001822.5(CHN1): c.667G> A (p.Ala223Thr) single nucleotide variant Likely pathogenic GRCh37 Chromosome 2, 175689207: 175689207
2 CHN1 NM_001822.5(CHN1): c.667G> A (p.Ala223Thr) single nucleotide variant Likely pathogenic GRCh38 Chromosome 2, 174824479: 174824479
3 KIF1A NM_001244008.1(KIF1A): c.3052C> T (p.His1018Tyr) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 241686664: 241686664
4 KIF1A NM_001244008.1(KIF1A): c.3052C> T (p.His1018Tyr) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 240747247: 240747247
5 WFS1 NM_006005.3(WFS1): c.1999C> T (p.Gln667Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 4, 6303521: 6303521
6 WFS1 NM_006005.3(WFS1): c.1999C> T (p.Gln667Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 4, 6301794: 6301794

Expression for Diaphragmatic Eventration

Search GEO for disease gene expression data for Diaphragmatic Eventration.

Pathways for Diaphragmatic Eventration

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

# Super pathways Score Top Affiliating Genes
1 10.02 FBN1 FLNA

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 sensory perception of sound GO:0007605 9.43 GABRB3 PAX3 WFS1
2 outflow tract septum morphogenesis GO:0003148 9.37 RARB ZFPM2
3 regulation of neuron apoptotic process GO:0043523 9.32 AKT1S1 GABRB3
4 embryonic digestive tract development GO:0048566 9.16 RARB STRA6
5 kidney development GO:0001822 9.13 FBN1 STRA6 WFS1
6 embryonic eye morphogenesis GO:0048048 8.62 FBN1 RARB

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

# Name GO ID Score Top Affiliating Genes
1 transcription factor binding GO:0008134 8.92 FLNA IGHMBP2 RARB ZFPM2

Sources for Diaphragmatic Eventration

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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