MCID: DPH021
MIFTS: 43

Diaphragm Disease

Categories: Muscle diseases, Respiratory diseases

Aliases & Classifications for Diaphragm Disease

MalaCards integrated aliases for Diaphragm Disease:

Name: Diaphragm Disease 12 15 17
Abnormality of the Diaphragm 29 6
Disease of Diaphragm 71

Classifications:



External Ids:

Disease Ontology 12 DOID:10481
ICD9CM 34 519.4
SNOMED-CT 67 48475001
ICD10 32 J98.6
UMLS 71 C0152097

Summaries for Diaphragm Disease

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 meacham winn culler syndrome. 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 Cells and Lineage-specific Markers and Heart Development. The drugs Ginger and Tangerine have been mentioned in the context of this disorder. Affiliated tissues include diaphragm, cervix and colon, and related phenotypes are mortality/aging and growth/size/body region

Wikipedia : 74 The diaphragm is a barrier method of birth control. It is moderately effective, with a one-year failure... more...

Related Diseases for Diaphragm Disease

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

(show top 50) (show all 55)
# Related Disease Score Top Affiliating Genes
1 diaphragmatic hernia, congenital 28.7 ZFPM2 TEF TCTE3 STRA6 SOX7 SLIT1
2 meacham winn culler syndrome 11.1
3 complete atrioventricular septal defect-tetralogy of fallot 10.4 NR2F2 GATA4
4 testicular thecoma 10.4 ZFPM2 GATA4
5 malignant childhood germ cell neoplasm 10.4 GATA6 GATA4
6 diaphragmatic eventration 10.4 ZFPM2 WFS1 STRA6
7 46,xy partial gonadal dysgenesis 10.3 ZFPM2 GATA4
8 bosch-boonstra-schaaf optic atrophy syndrome 10.3 NR2F2 NR2F1
9 complete atrioventricular septal defect with ventricular hypoplasia 10.3 NR2F2 GATA6 GATA4
10 partial atrioventricular canal 10.3 NR2F2 GATA6 GATA4
11 tricuspid atresia 10.3 ZFPM2 GATA6 GATA4
12 pancreas, annular 10.3 TEF STRA6
13 hypogonadotropic hypogonadism 5 with or without anosmia 10.3 NIPBL GATA6 GATA4
14 heart septal defect 10.3 ZFPM2 GATA6 GATA4
15 duodenal atresia 10.3 TEF FGF10 ALDH1A2
16 ventricular septal defect 10.2 ZFPM2 NR2F2 GATA6 GATA4
17 patent ductus arteriosus 1 10.2 TEF GATA6 GATA4
18 holt-oram syndrome 10.2 GATA6 GATA4 FGF10
19 46,xy sex reversal 9 10.2 ZFPM2 GATA4
20 hypoplastic left heart syndrome 10.2 ZFPM2 GATA6 GATA4
21 double outlet right ventricle 10.2 ZFPM2 GATA6 GATA4 FGF10
22 atrial heart septal defect 10.1 ZFPM2 NIPBL GATA6 GATA4
23 46,xy sex reversal 10.1 ZFPM2 NR2F2 GATA4
24 intestinal obstruction 10.1
25 chromosome 2q35 duplication syndrome 10.1 PORCN NIPBL FREM1 FGF10
26 atrioventricular septal defect 10.1 ZFPM2 NR2F2 NR2F1 GATA6 GATA4
27 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.0
28 iron metabolism disease 10.0
29 pulmonary valve disease 9.9 GATA6 GATA4
30 ovarian cancer 9.8
31 constipation 9.8
32 intestinal disease 9.8
33 crohn's disease 9.8
34 systemic lupus erythematosus 9.8
35 lupus erythematosus 9.8
36 celiac disease 1 9.7
37 gastrointestinal ulceration, recurrent, with dysfunctional platelets 9.7
38 deficiency anemia 9.7
39 inflammatory bowel disease 9.7
40 colitis 9.7
41 crohn's colitis 9.7
42 gastric ulcer 9.7
43 iron deficiency anemia 9.7
44 diarrhea 9.7
45 polyneuropathy 9.7
46 duodenal ulcer 9.7
47 gastroenteritis 9.7
48 eosinophilic gastroenteritis 9.7
49 ulcerative colitis 9.7
50 47,xyy 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

Symptoms & Phenotypes for Diaphragm Disease

MGI Mouse Phenotypes related to Diaphragm Disease:

45 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 10.31 ALDH1A2 FGF10 FREM1 GATA4 GATA6 NIPBL
2 growth/size/body region MP:0005378 10.27 ALDH1A2 FGF10 FREM1 GATA4 GATA6 NIPBL
3 embryo MP:0005380 10.24 ALDH1A2 FGF10 GATA4 GATA6 NIPBL NR2F1
4 cardiovascular system MP:0005385 10.22 ALDH1A2 FGF10 GATA4 GATA6 NIPBL NR2F2
5 endocrine/exocrine gland MP:0005379 10.18 ALDH1A2 FGF10 FREM1 GATA4 NR2F2 PORCN
6 nervous system MP:0003631 10.1 ALDH1A2 FGF10 FREM1 GATA4 NIPBL NR2F1
7 craniofacial MP:0005382 10.05 ALDH1A2 FGF10 FREM1 NIPBL PIGN PORCN
8 limbs/digits/tail MP:0005371 10.03 ALDH1A2 FGF10 FREM1 GATA4 GATA6 NIPBL
9 muscle MP:0005369 9.97 ALDH1A2 FGF10 FREM1 GATA4 GATA6 NR2F2
10 normal MP:0002873 9.81 ALDH1A2 FGF10 FREM1 GATA4 GATA6 NIPBL
11 no phenotypic analysis MP:0003012 9.8 GATA4 NR2F1 NR2F2 SLIT1 SOX7 STRA6
12 respiratory system MP:0005388 9.5 ALDH1A2 FGF10 FREM1 GATA4 GATA6 SFTPB
13 vision/eye MP:0005391 9.28 ALDH1A2 FGF10 FREM1 NIPBL NR2F1 NR2F2

Drugs & Therapeutics for Diaphragm Disease

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Ginger Approved Phase 2, Phase 3
2 Tangerine Approved Phase 2, Phase 3
3 Angelica Phase 2, Phase 3
4 Dong Quai Phase 2, Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Efficacy of TGF for Treating Osteoarthritis of the Knee: A Randomized Double-blind Controlled Trial Not yet recruiting NCT03562429 Phase 2, Phase 3 TGF;TGFP
2 Diaphragmatic Dysfunction and Cardiac Surgery; Perioperative Assessment and Effect on Outcome; Prospective Observational Study Unknown status NCT03126838
3 The Effects of Positive End-expiratory Pressure on the Position, Length and Contractibility of the Diaphragm. Completed NCT03539640
4 Vurdering af Diafragmas Funktion. Et Metodestudie og et Klinisk Studie Recruiting NCT04098939
5 Upright Magnetic Resonance Imaging in COPD and Diaphragm Disease Recruiting NCT03531775

Search NIH Clinical Center for Diaphragm Disease

Genetic Tests for Diaphragm Disease

Genetic tests related to Diaphragm Disease:

# Genetic test Affiliating Genes
1 Abnormality of the Diaphragm 29

Anatomical Context for Diaphragm Disease

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

19
Diaphragm

MalaCards organs/tissues related to Diaphragm Disease:

40
Cervix, Colon, Small Intestine, Lung

Publications for Diaphragm Disease

Articles related to Diaphragm Disease:

(show top 50) (show all 108)
# Title Authors PMID Year
1
Enteroscopic diagnosis of intestinal malabsorption of a rare etiology: diaphragm disease. 61
32054283 2020
2
Diaphragm disease in emergency surgery. 61
32239996 2020
3
Tozzi classification of diaphragmatic surgery in patients with stage IIIC-IV ovarian cancer based on surgical findings and complexity. 61
31912672 2020
4
Extensive NSAID-Induced Small Bowel 'Diaphragm Disease'. 61
31325137 2020
5
Diaphragm disease of the terminal ileum presenting as acute small bowel obstruction. 61
32034000 2020
6
Small bowel diaphragm disease from long-term non-steroidal anti-inflammatory use. 61
31586954 2019
7
Non-steroidal anti-inflammatory-induced small bowel diaphragm disease requiring bowel resection for recurrent small bowel obstruction. 61
29701291 2019
8
Iron deficiency anaemia secondary to small-bowel diaphragm disease not associated with NSAIDs. Is there anything else to consider? 61
30459057 2019
9
A rare cause of small bowel diaphragm disease presenting with palpated abdominal mass. 61
31391917 2019
10
Jejunal diaphragm disease associated with cytomegalovirus infection. 61
31041370 2019
11
A Vasculitis-Associated Neuromuscular and Vascular Hamartoma Presenting as a Fatal Form of Abdominal Cocoon. 61
29992844 2019
12
Gastrointestinal Diaphragm Disease With Retained Capsule Endoscope, Associated With Crohn's Disease: A Case Report. 61
29890901 2019
13
Concordance of a laparoscopic scoring algorithm with primary surgery findings in advanced stage ovarian cancer. 61
30366647 2018
14
Diaphragm disease in advanced ovarian cancer: Predictability of pre-operative imaging and safety of surgical intervention. 61
29807350 2018
15
Nonsteroidal anti-inflammatory drugs induced diaphragm disease: a report of 3 cases and literature review. 61
29732361 2018
16
Diaphragm Disease: NSAID-Induced Small Bowel Stricture. 61
30022924 2018
17
Small Bowel Obstruction due to Non-steroidal Anti-inflammatory Drug-induced Diaphragm Disease: A Case Report. 61
29796362 2018
18
Review article: a practical approach to the clinical management of NSAID enteropathy. 61
28587496 2017
19
Colonic Diaphragm Disease: An Important NSAID Complication to Know. 61
30766265 2017
20
A Curious Case of Intestinal Diaphragm Disease Unmasked by Perforation of a Duodenal Ulcer. 61
28523070 2017
21
Non-steroidal anti-inflammatory drug-induced diaphragm disease: an uncommon cause of small bowel obstruction. 61
27502342 2016
22
A prospective study evaluating diffusion weighted magnetic resonance imaging (DW-MRI) in the detection of peritoneal carcinomatosis in suspected gynecologic malignancies. 61
27103176 2016
23
Recurrence of an NSAID-induced diaphragmatic disease of the small intestine. 61
27170609 2016
24
Retained enteroscopy capsule in a patient with diaphragm disease. 61
27087343 2016
25
Clinical Features, Diagnosis, and Treatment Strategies of Gastrointestinal Diaphragm Disease Associated with Nonsteroidal Anti-Inflammatory Drugs. 61
27118967 2016
26
Neuromuscular and Vascular Hamartoma of the Small Intestine: An Exuberant Reparative Process Secondary to Chronic Inflammation. 61
26275621 2015
27
COLITIS AND "DIAPHRAGM DISEASE" OF THE COLON IN HEMODIALYSIS PATIENT DUE TO PROLONGED USE OF NON-STEROIDAL ANTI-INFLAMMATORY DRUG. 61
26939311 2015
28
Small bowel diaphragm disease mimicking malignancy. 61
26174729 2015
29
Diaphragm disease of the small intestine: an interesting case report. 61
25525150 2015
30
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
31
Small bowel diaphragm disease. 61
25595839 2015
32
Risk factors of symptomatic NSAID-induced small intestinal injury and diaphragm disease. 61
25041257 2014
33
Concurrent dual-scopic management of diaphragm disease. 61
24729312 2014
34
Histopathological changes in the gastrointestinal tract due to medications: an update for the surgical pathologist (part II of II). 61
24021900 2014
35
Gastrointestinal: diaphragm disease: emerging cause of gastrointestinal obstruction and bleeding. 61
24460836 2014
36
Diaphragm disease of the small bowel: a retrospective review of CT findings. 61
24450695 2014
37
Diaphragmatic disease of the colon: systematic review. 61
23517116 2013
38
The use of CT findings to predict extent of tumor at primary surgery for ovarian cancer. 61
23672930 2013
39
NSAID-induced diaphragmatic disease of the colon. 61
23709532 2013
40
Pan-enteric diaphragm disease. 61
22632580 2013
41
Idiopathic small bowel diaphragm disease identified by laparoscopic-assisted double-balloon enteroscopy in a child: an integrated successful definitive therapeutic method. 61
22901930 2012
42
Systematic review of small bowel diaphragm disease requiring surgery. 61
21812898 2012
43
Comparative evaluation of barium meal follow-through and barium enteroclysis before capsule endoscopy in obscure gastrointestinal bleeding. 61
22353508 2012
44
Consolidative radiation therapy for stage III Hodgkin lymphoma in patients who achieve complete response after ABVD chemotherapy. 61
21537149 2011
45
Diaphragm disease of the ileum: an unexpected cause of small bowel obstruction. 61
24950504 2011
46
Diaphragm disease compared with cryptogenic multifocal ulcerous stenosing enteritis. 61
21734797 2011
47
Diaphragm disease and small bowel enteropathy due to nonsteroidal anti-inflammatory drugs: a surgical perspective. 61
20041919 2011
48
Unusual case of acute intestinal obstruction. 61
21629545 2010
49
Subacute small bowel obstruction due to diaphragm disease. 61
20726468 2010
50
Adverse effects of drugs on small intestine and colon. 61
20227027 2010

Variations for Diaphragm Disease

ClinVar genetic disease variations for Diaphragm Disease:

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 CHN1 NM_001822.7(CHN1):c.667G>A (p.Ala223Thr)SNV Likely pathogenic 598971 rs1558939623 2:175689207-175689207 2:174824479-174824479
3 KIF1A NM_001244008.1(KIF1A):c.3052C>T (p.His1018Tyr)SNV Uncertain significance 598972 rs1356639316 2:241686664-241686664 2:240747247-240747247

Expression for Diaphragm Disease

Search GEO for disease gene expression data for Diaphragm Disease.

Pathways for Diaphragm Disease

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

# Super pathways Score Top Affiliating Genes
1 11.46 SOX7 GATA4 FGF10
2 10.46 GATA6 GATA4 FGF10
3 10.19 NR2F2 NR2F1

GO Terms for Diaphragm Disease

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

# Name GO ID Score Top Affiliating Genes
1 nuclear chromatin GO:0000790 9.1 ZFPM2 TEF SOX7 NIPBL GATA6 GATA4

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 10.05 ZFPM2 SOX7 SLIT1 NR2F2 NR2F1 FGF10
2 positive regulation of transcription by RNA polymerase II GO:0045944 10.04 ZFPM2 TEF NR2F1 NIPBL GATA6 GATA4
3 regulation of transcription by RNA polymerase II GO:0006357 10.01 ZFPM2 TEF SOX7 NR2F2 NR2F1 NIPBL
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 9.97 ZFPM2 SOX7 NR2F2 NIPBL GATA6
6 positive regulation of transcription, DNA-templated GO:0045893 9.8 ZFPM2 SOX7 NR2F2 GATA6 GATA4 FGF10
7 kidney development GO:0001822 9.77 WFS1 STRA6 ALDH1A2
8 response to estradiol GO:0032355 9.76 NR2F2 FGF10 ALDH1A2
9 cardiac muscle cell differentiation GO:0055007 9.61 GATA6 GATA4
10 response to vitamin A GO:0033189 9.61 GATA4 ALDH1A2
11 embryonic digestive tract morphogenesis GO:0048557 9.59 NIPBL FGF10
12 smooth muscle cell differentiation GO:0051145 9.56 GATA6 FGF10
13 lung development GO:0030324 9.56 ZFPM2 STRA6 FGF10 ALDH1A2
14 embryonic camera-type eye development GO:0031076 9.55 FGF10 ALDH1A2
15 intestinal epithelial cell differentiation GO:0060575 9.51 GATA6 GATA4
16 uterus morphogenesis GO:0061038 9.48 STRA6 NIPBL
17 lung saccule development GO:0060430 9.46 GATA6 FGF10
18 positive regulation of cardioblast differentiation GO:0051891 9.43 GATA6 GATA4
19 animal organ formation GO:0048645 9.4 GATA6 FGF10
20 type II pneumocyte differentiation GO:0060510 9.37 GATA6 FGF10
21 embryonic digestive tract development GO:0048566 9.33 STRA6 FGF10 ALDH1A2
22 pancreas development GO:0031016 9.26 WFS1 GATA6 FGF10 ALDH1A2
23 cardiac muscle tissue development GO:0048738 8.92 ZFPM2 GATA6 GATA4 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 9.73 TEF SOX7 NR2F2 NR2F1 GATA6 GATA4
2 sequence-specific DNA binding GO:0043565 9.43 TEF SOX7 NR2F2 NR2F1 GATA6 GATA4
3 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.17 ZFPM2 TEF SOX7 NR2F2 NR2F1 GATA6
4 retinal binding GO:0016918 9.16 STRA6 ALDH1A2

Sources for Diaphragm Disease

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
Content
Loading form....