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MCID: DPH021
MIFTS: 42

Diaphragm Disease

Categories: Muscle diseases, Respiratory diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Diaphragm Disease

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MalaCards integrated aliases for Diaphragm Disease:

Name: Diaphragm Disease 12 15 17
Abnormality of the Diaphragm 29 6
Disease of Diaphragm 70

Classifications:

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


External Ids:

Disease Ontology 12 DOID:10481
ICD9CM 34 519.4
SNOMED-CT 67 48475001
ICD10 32 J98.6
UMLS 70 C0152097
Sources

Summaries for Diaphragm Disease

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Disease Ontology : 12 A muscular disease that is located in the diaphragm.

MalaCards based summary : Diaphragm Disease, also known as abnormality of the diaphragm, is related to diaphragmatic hernia, congenital and duane retraction syndrome 1. An important gene associated with Diaphragm Disease is WFS1 (Wolframin ER Transmembrane Glycoprotein), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Heart Development. The drug Ethanol has been mentioned in the context of this disorder. Affiliated tissues include diaphragm, cervix and small intestine, and related phenotypes are mortality/aging and growth/size/body region

Wikipedia : 73 The diaphragm is a barrier method of birth control. It is moderately effective, with a one-year failure... more...

Sources

Related Diseases for Diaphragm Disease

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Diseases related to Diaphragm Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 58)
# Related Disease Score Top Affiliating Genes
1 diaphragmatic hernia, congenital 29.3 ZFPM2 STRA6 SOX7 SLIT1 SFTPB PORCN
2 duane retraction syndrome 1 10.4 WFS1 CHN1
3 testicular thecoma 10.4 ZFPM2 GATA4
4 laryngomalacia 10.3 WFS1 CHN1
5 marden-walker syndrome 10.3 WFS1 CHN1
6 malignant childhood germ cell neoplasm 10.3 GATA6 GATA4
7 bosch-boonstra-schaaf optic atrophy syndrome 10.3 NR2F2 NR2F1
8 46,xy partial gonadal dysgenesis 10.3 ZFPM2 GATA4
9 46,xy sex reversal 9 10.3 ZFPM2 GATA4
10 diaphragmatic eventration 10.3 ZFPM2 WFS1 STRA6 CHN1
11 hydronephrosis 10.2 WFS1 GATA4 CHN1
12 partial atrioventricular canal 10.2 NR2F2 GATA6 GATA4
13 congenital heart defects, multiple types, 4 10.2 NR2F2 GATA6 GATA4
14 tricuspid atresia 10.2 ZFPM2 GATA6 GATA4
15 heart septal defect 10.2 ZFPM2 GATA6 GATA4
16 intestinal obstruction 10.2
17 hypoplastic left heart syndrome 10.2 ZFPM2 GATA6 GATA4
18 pulmonary valve disease 10.2 GATA6 GATA4
19 atrioventricular septal defect 10.2 ZFPM2 NR2F2 GATA6 GATA4
20 ventricular septal defect 10.2 ZFPM2 NR2F2 GATA6 GATA4
21 patent foramen ovale 10.2 ZFPM2 GATA6 GATA4
22 46,xy sex reversal 10.1 ZFPM2 NR2F2 NR2F1 GATA4
23 patent ductus arteriosus 1 10.1 ZFPM2 SFTPB GATA6 GATA4
24 tricuspid valve disease 10.1 GATA6 GATA4
25 atrial heart septal defect 10.1 ZFPM2 NIPBL GATA6 GATA4
26 double outlet right ventricle 10.1 ZFPM2 GATA6 GATA4 FGF10
27 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.1
28 iron metabolism disease 10.1
29 hypotrichosis-lymphedema-telangiectasia syndrome 10.1 SOX7 NR2F2
30 chromosome 2q35 duplication syndrome 10.1 PORCN NIPBL FREM1 FGF10
31 cleft palate, isolated 10.0 WFS1 NIPBL FGF10 CHN1
32 systemic lupus erythematosus 10.0
33 lupus erythematosus 10.0
34 ovarian cancer 9.9
35 constipation 9.9
36 intestinal disease 9.9
37 crohn's disease 9.9
38 coloboma of macula 9.9 STRA6 PORCN FREM1
39 tetralogy of fallot 9.8 ZFPM2 STRA6 NR2F2 NIPBL GATA6 GATA4
40 celiac disease 1 9.7
41 gastrointestinal ulceration, recurrent, with dysfunctional platelets 9.7
42 deficiency anemia 9.7
43 disease by infectious agent 9.7
44 colitis 9.7
45 crohn's colitis 9.7
46 human cytomegalovirus infection 9.7
47 gastric ulcer 9.7
48 iron deficiency anemia 9.7
49 diarrhea 9.7
50 polyneuropathy 9.7

Comorbidity relations with Diaphragm Disease via Phenotypic Disease Network (PDN):


Bronchitis Heart Disease
Hypertension, Essential Intermediate Coronary Syndrome
Respiratory Failure

Graphical network of the top 20 diseases related to Diaphragm Disease:



Diseases related to Diaphragm Disease
Sources

Symptoms & Phenotypes for Diaphragm Disease

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MGI Mouse Phenotypes related to Diaphragm Disease:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 10.31 ALDH1A2 CHN1 FGF10 FREM1 GATA4 GATA6
2 growth/size/body region MP:0005378 10.3 ALDH1A2 CHN1 FGF10 FREM1 GATA4 GATA6
3 cellular MP:0005384 10.26 ALDH1A2 CHN1 DYNLT2 FGF10 GATA4 GATA6
4 embryo MP:0005380 10.24 ALDH1A2 FGF10 GATA4 GATA6 NIPBL NR2F1
5 endocrine/exocrine gland MP:0005379 10.18 ALDH1A2 DYNLT2 FGF10 FREM1 GATA4 NR2F2
6 craniofacial MP:0005382 10.11 ALDH1A2 FGF10 FREM1 NIPBL NR2F1 PIGN
7 nervous system MP:0003631 10.1 ALDH1A2 CHN1 FGF10 FREM1 GATA4 NIPBL
8 limbs/digits/tail MP:0005371 10.03 ALDH1A2 FGF10 FREM1 GATA4 GATA6 NIPBL
9 muscle MP:0005369 10.02 ALDH1A2 CHN1 FGF10 FREM1 GATA4 GATA6
10 normal MP:0002873 9.85 ALDH1A2 CHN1 FGF10 FREM1 GATA4 GATA6
11 no phenotypic analysis MP:0003012 9.8 GATA4 NR2F1 NR2F2 SLIT1 SOX7 STRA6
12 respiratory system MP:0005388 9.56 ALDH1A2 FGF10 FREM1 GATA4 GATA6 NR2F1
13 vision/eye MP:0005391 9.32 ALDH1A2 CHN1 FGF10 FREM1 NIPBL NR2F1
Sources

Drugs & Therapeutics for Diaphragm Disease

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Drugs for Diaphragm Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethanol Approved 64-17-5 702

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Diaphragmatic Dysfunction and Cardiac Surgery; Perioperative Assessment and Effect on Outcome; Prospective Observational Study Unknown status NCT03126838
2 Upright Magnetic Resonance Imaging in COPD and Diaphragm Disease Unknown status NCT03531775
3 The Effects of Positive End-expiratory Pressure on the Position, Length and Contractibility of the Diaphragm. Completed NCT03539640
4 Can Intraoperative Visual Examination of Diaphragmatic Peritoneum be a Reliable Tool to Modulate the Extent of Interval Debulking Surgery in Advanced Ovarian Cancer? The VIPER (VIsual Peritoneal Evaluation of Residual Disease) Study Completed NCT04444934
5 Evaluation of Diaphragm Functions in Laparoscopic Bariatric Surgeries Completed NCT04828408
6 Effects of COVID-19-infection and Mechanical Ventilation on Movement and Tissue Characteristics of the Diaphragm, Visualized by Magnetic Resonance Imaging: a Proof-of-concept Study Recruiting NCT04735757
7 Vurdering af Diafragmas Funktion. Et Metodestudie og et Klinisk Studie Recruiting NCT04098939
8 Surgical Anatomy of the Distal Portion of the Phrenic Nerve Not yet recruiting NCT04716504

Search NIH Clinical Center for Diaphragm Disease

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Genetic Tests for Diaphragm Disease

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Genetic tests related to Diaphragm Disease:

# Genetic test Affiliating Genes
1 Abnormality of the Diaphragm 29
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Anatomical Context for Diaphragm Disease

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The Foundational Model of Anatomy Ontology organs/tissues related to Diaphragm Disease:

19
Diaphragm

MalaCards organs/tissues related to Diaphragm Disease:

40
Cervix, Small Intestine, Colon
Sources

Publications for Diaphragm Disease

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Articles related to Diaphragm Disease:

(show top 50) (show all 111)
# Title Authors PMID Year
1
Idiopathic small bowel diaphragm disease: a case report. 61
33133497 2020
2
Colonic diaphragm disease secondary to nonsteroidal anti-inflammatory drug use. 61
32675960 2020
3
Enteroscopic diagnosis of intestinal malabsorption of a rare etiology: diaphragm disease. 61
32054283 2020
4
Diaphragm disease in emergency surgery. 61
32239996 2020
5
Tozzi classification of diaphragmatic surgery in patients with stage IIIC-IV ovarian cancer based on surgical findings and complexity. 61
31912672 2020
6
Extensive NSAID-Induced Small Bowel 'Diaphragm Disease'. 61
31325137 2020
7
Diaphragm disease of the terminal ileum presenting as acute small bowel obstruction. 61
32034000 2020
8
Diaphragm disease associated with nonsteroidal anti-inflammatory drugs mimicking intestinal tumor: A case report. 61
33032041 2020
9
Small bowel diaphragm disease from long-term non-steroidal anti-inflammatory use. 61
31586954 2019
10
Non-steroidal anti-inflammatory-induced small bowel diaphragm disease requiring bowel resection for recurrent small bowel obstruction. 61
29701291 2019
11
Iron deficiency anaemia secondary to small-bowel diaphragm disease not associated with NSAIDs. Is there anything else to consider? 61
30459057 2019
12
A rare cause of small bowel diaphragm disease presenting with palpated abdominal mass. 61
31391917 2019
13
Jejunal diaphragm disease associated with cytomegalovirus infection. 61
31041370 2019
14
A Vasculitis-Associated Neuromuscular and Vascular Hamartoma Presenting as a Fatal Form of Abdominal Cocoon. 61
29992844 2019
15
Gastrointestinal Diaphragm Disease With Retained Capsule Endoscope, Associated With Crohn's Disease: A Case Report. 61
29890901 2019
16
Concordance of a laparoscopic scoring algorithm with primary surgery findings in advanced stage ovarian cancer. 61
30366647 2018
17
Diaphragm disease in advanced ovarian cancer: Predictability of pre-operative imaging and safety of surgical intervention. 61
29807350 2018
18
Nonsteroidal anti-inflammatory drugs induced diaphragm disease: a report of 3 cases and literature review. 61
29732361 2018
19
Diaphragm Disease: NSAID-Induced Small Bowel Stricture. 61
30022924 2018
20
Small Bowel Obstruction due to Non-steroidal Anti-inflammatory Drug-induced Diaphragm Disease: A Case Report. 61
29796362 2018
21
Review article: a practical approach to the clinical management of NSAID enteropathy. 61
28587496 2017
22
Colonic Diaphragm Disease: An Important NSAID Complication to Know. 61
30766265 2017
23
A Curious Case of Intestinal Diaphragm Disease Unmasked by Perforation of a Duodenal Ulcer. 61
28523070 2017
24
Non-steroidal anti-inflammatory drug-induced diaphragm disease: an uncommon cause of small bowel obstruction. 61
27502342 2016
25
A prospective study evaluating diffusion weighted magnetic resonance imaging (DW-MRI) in the detection of peritoneal carcinomatosis in suspected gynecologic malignancies. 61
27103176 2016
26
Recurrence of an NSAID-induced diaphragmatic disease of the small intestine. 61
27170609 2016
27
Retained enteroscopy capsule in a patient with diaphragm disease. 61
27087343 2016
28
Clinical Features, Diagnosis, and Treatment Strategies of Gastrointestinal Diaphragm Disease Associated with Nonsteroidal Anti-Inflammatory Drugs. 61
27118967 2016
29
Neuromuscular and Vascular Hamartoma of the Small Intestine: An Exuberant Reparative Process Secondary to Chronic Inflammation. 61
26275621 2015
30
COLITIS AND "DIAPHRAGM DISEASE" OF THE COLON IN HEMODIALYSIS PATIENT DUE TO PROLONGED USE OF NON-STEROIDAL ANTI-INFLAMMATORY DRUG. 61
26939311 2015
31
Small bowel diaphragm disease mimicking malignancy. 61
26174729 2015
32
Diaphragm disease of the small intestine: an interesting case report. 61
25525150 2015
33
Predicting surgical outcome in patients with International Federation of Gynecology and Obstetrics stage III or IV ovarian cancer using computed tomography: a systematic review of prediction models. 61
25695545 2015
34
Small bowel diaphragm disease. 61
25595839 2015
35
Risk factors of symptomatic NSAID-induced small intestinal injury and diaphragm disease. 61
25041257 2014
36
Concurrent dual-scopic management of diaphragm disease. 61
24729312 2014
37
Histopathological changes in the gastrointestinal tract due to medications: an update for the surgical pathologist (part II of II). 61
24021900 2014
38
Gastrointestinal: diaphragm disease: emerging cause of gastrointestinal obstruction and bleeding. 61
24460836 2014
39
Diaphragm disease of the small bowel: a retrospective review of CT findings. 61
24450695 2014
40
Diaphragmatic disease of the colon: systematic review. 61
23517116 2013
41
The use of CT findings to predict extent of tumor at primary surgery for ovarian cancer. 61
23672930 2013
42
NSAID-induced diaphragmatic disease of the colon. 61
23709532 2013
43
Pan-enteric diaphragm disease. 61
22632580 2013
44
Idiopathic small bowel diaphragm disease identified by laparoscopic-assisted double-balloon enteroscopy in a child: an integrated successful definitive therapeutic method. 61
22901930 2012
45
Systematic review of small bowel diaphragm disease requiring surgery. 61
21812898 2012
46
Comparative evaluation of barium meal follow-through and barium enteroclysis before capsule endoscopy in obscure gastrointestinal bleeding. 61
22353508 2012
47
Consolidative radiation therapy for stage III Hodgkin lymphoma in patients who achieve complete response after ABVD chemotherapy. 61
21537149 2011
48
Diaphragm disease of the ileum: an unexpected cause of small bowel obstruction. 61
24950504 2011
49
Diaphragm disease compared with cryptogenic multifocal ulcerous stenosing enteritis. 61
21734797 2011
50
Diaphragm disease and small bowel enteropathy due to nonsteroidal anti-inflammatory drugs: a surgical perspective. 61
20041919 2011
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Variations for Diaphragm Disease

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ClinVar genetic disease variations for Diaphragm Disease:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 WFS1 NM_006005.3(WFS1):c.1999C>T (p.Gln667Ter) SNV Pathogenic 598973 rs771409809 GRCh37: 4:6303521-6303521
GRCh38: 4:6301794-6301794
2 CHN1 NM_001822.7(CHN1):c.667G>A (p.Ala223Thr) SNV Likely pathogenic 598971 rs1558939623 GRCh37: 2:175689207-175689207
GRCh38: 2:174824479-174824479
3 KIF1A NM_001244008.1(KIF1A):c.3052C>T (p.His1018Tyr) SNV Uncertain significance 598972 rs1356639316 GRCh37: 2:241686664-241686664
GRCh38: 2:240747247-240747247
Sources

Expression for Diaphragm Disease

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Search GEO for disease gene expression data for Diaphragm Disease.
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Pathways for Diaphragm Disease

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Pathways related to Diaphragm Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers 64
11.46 SOX7 GATA4 FGF10
2
Heart Development 1
10.46 GATA6 GATA4 FGF10
3
Oct4 in Mammalian ESC Pluripotency 63
10.19 NR2F2 NR2F1
Sources

GO Terms for Diaphragm Disease

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Cellular components related to Diaphragm Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin GO:0000785 9.17 ZFPM2 SOX7 NR2F2 NR2F1 NIPBL GATA6

Biological processes related to Diaphragm Disease according to GeneCards Suite gene sharing:

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 10.16 ZFPM2 SOX7 NR2F2 NR2F1 NIPBL GATA6
2 cell differentiation GO:0030154 10.04 ZFPM2 SOX7 SLIT1 NR2F2 NR2F1 FGF10
3 positive regulation of transcription by RNA polymerase II GO:0045944 10.04 ZFPM2 NR2F2 NR2F1 NIPBL GATA6 GATA4
4 negative regulation of transcription by RNA polymerase II GO:0000122 10 ZFPM2 WFS1 NR2F2 NR2F1 NIPBL GATA6
5 negative regulation of transcription, DNA-templated GO:0045892 9.96 ZFPM2 SOX7 NR2F2 NIPBL GATA6
6 positive regulation of transcription, DNA-templated GO:0045893 9.93 ZFPM2 SOX7 NR2F2 GATA6 GATA4 FGF10
7 kidney development GO:0001822 9.78 WFS1 STRA6 ALDH1A2
8 response to estradiol GO:0032355 9.76 NR2F2 FGF10 ALDH1A2
9 response to vitamin A GO:0033189 9.6 GATA4 ALDH1A2
10 cardiac muscle cell differentiation GO:0055007 9.59 GATA6 GATA4
11 smooth muscle cell differentiation GO:0051145 9.58 GATA6 FGF10
12 lung development GO:0030324 9.56 ZFPM2 STRA6 FGF10 ALDH1A2
13 embryonic digestive tract morphogenesis GO:0048557 9.55 NIPBL FGF10
14 embryonic camera-type eye development GO:0031076 9.54 FGF10 ALDH1A2
15 intestinal epithelial cell differentiation GO:0060575 9.51 GATA6 GATA4
16 lung saccule development GO:0060430 9.48 GATA6 FGF10
17 uterus morphogenesis GO:0061038 9.43 STRA6 NIPBL
18 positive regulation of cardioblast differentiation GO:0051891 9.4 GATA6 GATA4
19 animal organ formation GO:0048645 9.37 GATA6 FGF10
20 cardiac muscle tissue development GO:0048738 9.33 ZFPM2 GATA6 ALDH1A2
21 type II pneumocyte differentiation GO:0060510 9.32 GATA6 FGF10
22 embryonic digestive tract development GO:0048566 9.13 STRA6 FGF10 ALDH1A2
23 pancreas development GO:0031016 8.92 WFS1 GATA6 FGF10 ALDH1A2

Molecular functions related to Diaphragm Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity GO:0003700 9.55 SOX7 NR2F2 NR2F1 GATA6 GATA4
2 sequence-specific DNA binding GO:0043565 9.02 SOX7 NR2F2 NR2F1 GATA6 GATA4
3 retinal binding GO:0016918 8.96 STRA6 ALDH1A2
Sources

Sources for Diaphragm Disease

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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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 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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