MCID: DPH021
MIFTS: 42

Diaphragm Disease

Categories: Muscle diseases, Respiratory diseases

Aliases & Classifications for Diaphragm Disease

MalaCards integrated aliases for Diaphragm Disease:

Name: Diaphragm Disease 12 15
Abnormality of the Diaphragm 29
Disease of Diaphragm 73

Classifications:



External Ids:

Disease Ontology 12 DOID:10481
ICD10 33 J98.6
ICD9CM 35 519.4
SNOMED-CT 68 48475001
UMLS 73 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 RPS17 (Ribosomal Protein S17), and among its related pathways/superpathways are Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4) and Oct4 in Mammalian ESC Pluripotency. Affiliated tissues include cervix, small intestine and colon, and related phenotypes are mortality/aging and cardiovascular system

Wikipedia : 76 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 all 27)
# Related Disease Score Top Affiliating Genes
1 diaphragmatic hernia, congenital 28.4 ZFPM2 TEF STRA6 SLIT3 SLIT1 SFTPC
2 meacham winn culler syndrome 10.9
3 complete atrioventricular canal-left heart obstruction syndrome 10.2 NR2F2 GATA4
4 complete atrioventricular canal-tetralogy of fallot syndrome 10.2 NR2F2 GATA4
5 complete atrioventricular canal-ventricle hypoplasia syndrome 10.2 NR2F2 GATA4
6 partial atrioventricular canal 10.2 NR2F2 GATA4
7 46,xy partial gonadal dysgenesis 10.2 ZFPM2 GATA4
8 bosch-boonstra-schaaf optic atrophy syndrome 10.1 NR2F2 NR2F1
9 donnai-barrow syndrome 10.1 ZFPM2 NR2F2 GATA4
10 ventricular septal defect 10.1 ZFPM2 NR2F2 GATA4
11 microphthalmia, syndromic 9 10.1 STRA6 FGF10
12 esophageal atresia/tracheoesophageal fistula 10.1 TEF FGF10
13 neonatal respiratory failure 10.1 SFTPC SFTPB
14 surfactant dysfunction 10.0 SFTPC SFTPB
15 respiratory distress syndrome in premature infants 10.0 SFTPC SFTPB
16 diaphragmatic eventration 10.0 ZFPM2 TEF STRA6 PAX3
17 duodenal atresia 10.0 TEF FGF10
18 deafness, autosomal dominant 15 9.9 NR2F2 NR2F1
19 ovarian cancer 9.8
20 crohn's disease 9.7
21 colitis 9.7
22 duodenal ulcer 9.7
23 gastroenteritis 9.7
24 iron metabolism disease 9.7
25 eosinophilic gastroenteritis 9.7
26 eosinophilic enteropathy 9.7
27 cryptogenic multifocal ulcerous stenosing enteritis 9.7

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


Bronchitis Heart Disease
Hypertension, Essential Intermediate Coronary Syndrome
Ischemic Heart Disease 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:

46 (show all 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 10.31 ALDH1A2 EFNB1 FGF10 FREM1 GATA4 HLX
2 cardiovascular system MP:0005385 10.27 ALDH1A2 FGF10 GATA4 NR2F2 PAX3 SFTPC
3 growth/size/body region MP:0005378 10.26 ALDH1A2 EFNB1 FGF10 FREM1 GATA4 HLX
4 endocrine/exocrine gland MP:0005379 10.24 ALDH1A2 EFNB1 FGF10 FREM1 GATA4 HLX
5 homeostasis/metabolism MP:0005376 10.24 ALDH1A2 EFNB1 FGF10 GATA4 HLX NR2F2
6 digestive/alimentary MP:0005381 10.16 EFNB1 FGF10 FREM1 GATA4 HLX NR2F2
7 nervous system MP:0003631 10.13 ALDH1A2 EFNB1 FGF10 FREM1 GATA4 HLX
8 embryo MP:0005380 10.09 ALDH1A2 EFNB1 FGF10 GATA4 NR2F2 PAX3
9 integument MP:0010771 10.08 EFNB1 FGF10 FREM1 GATA4 HLX PAX3
10 craniofacial MP:0005382 10.04 ALDH1A2 EFNB1 FGF10 FREM1 PAX3 STRA6
11 muscle MP:0005369 10.02 ALDH1A2 FGF10 FREM1 GATA4 HLX NR2F2
12 liver/biliary system MP:0005370 9.98 FREM1 GATA4 HLX PAX3 SLIT3 TEF
13 limbs/digits/tail MP:0005371 9.93 ALDH1A2 EFNB1 FGF10 FREM1 GATA4 PAX3
14 hearing/vestibular/ear MP:0005377 9.91 ALDH1A2 EFNB1 FGF10 NR2F1 PAX3
15 no phenotypic analysis MP:0003012 9.91 EFNB1 GATA4 NR2F1 NR2F2 PAX3 SFTPC
16 respiratory system MP:0005388 9.9 ALDH1A2 EFNB1 FGF10 FREM1 GATA4 HLX
17 skeleton MP:0005390 9.56 ALDH1A2 EFNB1 FGF10 FREM1 GATA4 PAX3
18 vision/eye MP:0005391 9.28 ALDH1A2 EFNB1 FGF10 FREM1 NR2F1 NR2F2

Drugs & Therapeutics for Diaphragm Disease

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Diaphragmatic Dysfunction and Cardiac Surgery; Perioperative Assessment and Effect on Outcome Recruiting NCT03126838
2 Upright MRI in Lung Disease Recruiting NCT03531775 Not Applicable
3 Real-time Effort Driven VENTilator Management Recruiting NCT03266016 Not Applicable
4 Efficacy of Costal Mobilization Techniques and Manual Diaphragm Release Technique in Patients COPD Recruiting NCT03022942 Not Applicable
5 Ultrasound Diaphragmatic Thickening to Monitor Its Dysfunction in Patients With Sepsis Recruiting NCT02474797 Not Applicable
6 Factors Associated With Hypoventilation in the Myotonic Dystrophy, Progressive Profile Over 5 Years Recruiting NCT03764150
7 Genetic Analysis of Congenital Diaphragmatic Disorders Active, not recruiting NCT01243229
8 Effect PEEP on Diaphragm Active, not recruiting NCT03539640 Not Applicable
9 Educational Programme in Diaphragm Ultrasonographic Assessment Not yet recruiting NCT03704129 Not Applicable

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

MalaCards organs/tissues related to Diaphragm Disease:

41
Cervix, Small Intestine, Colon, Heart

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

19
The Diaphragm

Publications for Diaphragm Disease

Articles related to Diaphragm Disease:

(show top 50) (show all 63)
# Title Authors Year
1
Gastrointestinal Diaphragm Disease With Retained Capsule Endoscope, Associated With Crohn's Disease: A Case Report. ( 29890901 )
2018
2
Small Bowel Obstruction due to Non-steroidal Anti-inflammatory Drug-induced Diaphragm Disease: A Case Report. ( 29796362 )
2018
3
Nonsteroidal anti-inflammatory drugs induced diaphragm disease: a report of 3 cases and literature review. ( 29732361 )
2018
4
Non-steroidal anti-inflammatory-induced small bowel diaphragm disease requiring bowel resection for recurrent small bowel obstruction. ( 29701291 )
2018
5
Diaphragm disease in advanced ovarian cancer: Predictability of pre-operative imaging and safety of surgical intervention. ( 29807350 )
2018
6
Diaphragm Disease: NSAID-Induced Small Bowel Stricture. ( 30022924 )
2018
7
Iron deficiency anaemia secondary to small-bowel diaphragm disease not associated with NSAIDs. Is there anything else to consider? ( 30459057 )
2018
8
A Curious Case of Intestinal Diaphragm Disease Unmasked by Perforation of a Duodenal Ulcer. ( 28523070 )
2017
9
Non-steroidal anti-inflammatory drug-induced diaphragm disease: an uncommon cause of small bowel obstruction. ( 27502342 )
2016
10
Retained enteroscopy capsule in a patient with diaphragm disease. ( 27087343 )
2016
11
Clinical Features, Diagnosis, and Treatment Strategies of Gastrointestinal Diaphragm Disease Associated with Nonsteroidal Anti-Inflammatory Drugs. ( 27118967 )
2016
12
Small bowel diaphragm disease. ( 25595839 )
2015
13
Small bowel diaphragm disease mimicking malignancy. ( 26174729 )
2015
14
COLITIS AND "DIAPHRAGM DISEASE" OF THE COLON IN HEMODIALYSIS PATIENT DUE TO PROLONGED USE OF NON-STEROIDAL ANTI-INFLAMMATORY DRUG. ( 26939311 )
2015
15
Diaphragm disease of the small bowel: a retrospective review of CT findings. ( 24450695 )
2014
16
Diaphragm Disease of the Small Intestine: An Interesting Case Report. ( 25525150 )
2014
17
Gastrointestinal: diaphragm disease: emerging cause of gastrointestinal obstruction and bleeding. ( 24460836 )
2014
18
Concurrent dual-scopic management of diaphragm disease. ( 24729312 )
2014
19
Risk factors of symptomatic NSAID-induced small intestinal injury and diaphragm disease. ( 25041257 )
2014
20
Pan-enteric diaphragm disease. ( 22632580 )
2013
21
Idiopathic small bowel diaphragm disease identified by laparoscopic-assisted double-balloon enteroscopy in a child: an integrated successful definitive therapeutic method. ( 22901930 )
2012
22
Systematic review of small bowel diaphragm disease requiring surgery. ( 21812898 )
2012
23
Diaphragm disease and small bowel enteropathy due to nonsteroidal anti-inflammatory drugs: a surgical perspective. ( 20041919 )
2011
24
Diaphragm disease of the ileum: an unexpected cause of small bowel obstruction. ( 24950504 )
2011
25
Diaphragm disease compared with cryptogenic multifocal ulcerous stenosing enteritis. ( 21734797 )
2011
26
Subacute small bowel obstruction due to diaphragm disease. ( 20726468 )
2010
27
Nonsteroidal anti-inflammatory drug-induced small-bowel lesions identified by double-balloon endoscopy: endoscopic features of the lesions and endoscopic treatments for diaphragm disease. ( 19148795 )
2009
28
Capsule retention in a patient with eosinophilic gastroenteritis mimicking diaphragm disease of the small bowel. ( 19899044 )
2009
29
Diaphragm disease of the jejunum. ( 19417974 )
2009
30
Colonic diaphragm disease without significant non-steroidal anti-inflammatory drug use: a case report. ( 18928531 )
2008
31
Histopathology of diaphragm disease of the small intestine: a study of 10 cases from a single institution. ( 18794043 )
2008
32
Rofecoxib associated with diaphragm disease. ( 18067698 )
2007
33
Non-steroidal anti-inflammatory drug-induced small bowel diaphragm disease. ( 17501897 )
2007
34
Treatment of small-bowel diaphragm disease by using double-balloon enteroscopy. ( 17140921 )
2006
35
Surgical treatment of diaphragm disease correlates with improved survival in optimally debulked advanced stage ovarian cancer. ( 16182350 )
2006
36
Diaphragm disease of the ileum: a case report. ( 16910062 )
2006
37
Diaphragm disease of the ileum. ( 17462344 )
2006
38
Diaphragm disease: the limitation of laparoscopy and assessment of the small bowel for strictures using a ball bearing. ( 16964371 )
2006
39
Diaphragm disease: complete small bowel obstruction after long-term nonsteroidal anti-inflammatory drugs use. ( 15944962 )
2005
40
Diaphragm disease of small intestine diagnosed by double-balloon enteroscopy. ( 15990851 )
2005
41
Small-bowel diaphragm disease: seven surgical cases. ( 16365236 )
2005
42
Diaphragm disease after use of nonsteroidal anti-inflammatory agents: first report of diagnosis with capsule endoscopy. ( 15319653 )
2004
43
Diaphragm disease of duodenum following long-term NSAIDs use: endoscopic management. ( 15599008 )
2004
44
Diaphragm disease of the large bowel due to non steroidal anti inflammatory drugs. ( 12199006 )
2002
45
Diaphragm disease of the small bowel--a case report and literature review. ( 12435916 )
2002
46
Clinical and pathological overlap in nonsteroidal anti-inflammatory drug-related small bowel diaphragm disease and the neuromuscular and vascular hamartoma of the small bowel. ( 11257631 )
2001
47
Diaphragm disease of the small bowel: a case without apparent nonsteroidal antiinflammatory drug use. ( 11276281 )
2001
48
Nonceliac diaphragm disease of the duodenum. ( 10851288 )
2000
49
Endoscopic therapy of NSAID-induced colonic diaphragm disease: two cases and a review of published reports. ( 10882981 )
2000
50
Aspirin-related small bowel diaphragm disease identified during emergency laparotomy. ( 11196735 )
2000

Variations for Diaphragm Disease

Expression for Diaphragm Disease

Search GEO for disease gene expression data for Diaphragm Disease.

Pathways for Diaphragm Disease

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 clathrin-coated endocytic vesicle GO:0045334 9.16 SFTPB SFTPC
2 lamellar body GO:0042599 8.96 SFTPB SFTPC
3 multivesicular body lumen GO:0097486 8.62 SFTPB SFTPC

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.88 FGF10 GATA4 NR2F2 PAX3 ZFPM2
2 cell differentiation GO:0030154 9.88 EFNB1 FGF10 HLX SLIT1 SLIT3 ZFPM2
3 nervous system development GO:0007399 9.77 EFNB1 NR2F1 PAX3 SLIT1 SLIT3
4 response to estradiol GO:0032355 9.63 ALDH1A2 FGF10 NR2F2
5 ventricular septum development GO:0003281 9.6 GATA4 STRA6
6 blood vessel morphogenesis GO:0048514 9.59 FGF10 NR2F2
7 pituitary gland development GO:0021983 9.58 ALDH1A2 FGF10
8 pancreas development GO:0031016 9.58 ALDH1A2 FGF10
9 aortic valve morphogenesis GO:0003180 9.57 GATA4 SLIT3
10 embryonic pattern specification GO:0009880 9.56 EFNB1 FGF10
11 response to vitamin A GO:0033189 9.55 ALDH1A2 GATA4
12 cardiac muscle tissue development GO:0048738 9.51 ALDH1A2 ZFPM2
13 embryonic digestive tract morphogenesis GO:0048557 9.49 FGF10 HLX
14 lung development GO:0030324 9.46 ALDH1A2 FGF10 STRA6 ZFPM2
15 embryonic camera-type eye development GO:0031076 9.43 ALDH1A2 FGF10
16 axon extension involved in axon guidance GO:0048846 9.32 SLIT1 SLIT3
17 chemorepulsion involved in embryonic olfactory bulb interneuron precursor migration GO:0021834 9.26 SLIT1 SLIT3
18 embryonic digestive tract development GO:0048566 9.13 ALDH1A2 FGF10 STRA6
19 animal organ morphogenesis GO:0009887 9.02 FGF10 GATA4 PAX3 SFTPB SLIT3
20 positive regulation of transcription by RNA polymerase II GO:0045944 10.01 FGF10 GATA4 NR2F1 PAX3 TEF ZFPM2
21 multicellular organism development GO:0007275 10 EFNB1 FREM1 HLX PAX3 SLIT1 SLIT3

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, RNA polymerase II-specific GO:0000981 9.8 GATA4 HLX NR2F1 NR2F2 PAX3 TEF
2 retinal binding GO:0016918 9.16 ALDH1A2 STRA6
3 sequence-specific DNA binding GO:0043565 9.1 GATA4 HLX NR2F1 NR2F2 PAX3 TEF
4 Roundabout binding GO:0048495 8.96 SLIT1 SLIT3

Sources for Diaphragm Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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