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 72

Classifications:



External Ids:

Disease Ontology 12 DOID:10481
ICD9CM 35 519.4
SNOMED-CT 68 48475001
ICD10 33 J98.6
UMLS 72 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 Axon guidance and Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5). The drugs Tangerine and Ginger have been mentioned in the context of this disorder. Affiliated tissues include cervix, colon and small intestine, and related phenotypes are mortality/aging and growth/size/body region

Wikipedia : 75 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 45)
# Related Disease Score Top Affiliating Genes
1 diaphragmatic hernia, congenital 24.4 ZFPM2 TEF STRA6 SLIT3 SLIT1 SFTPC
2 meacham winn culler syndrome 11.1
3 complete atrioventricular canal-left heart obstruction syndrome 10.5 NR2F2 GATA4
4 complete atrioventricular canal-tetralogy of fallot syndrome 10.5 NR2F2 GATA4
5 complete atrioventricular canal-ventricle hypoplasia syndrome 10.5 NR2F2 GATA4
6 partial atrioventricular canal 10.5 NR2F2 GATA4
7 46,xy partial gonadal dysgenesis 10.4 ZFPM2 GATA4
8 bosch-boonstra-schaaf optic atrophy syndrome 10.3 NR2F2 NR2F1
9 donnai-barrow syndrome 10.3 ZFPM2 NR2F2 GATA4
10 microphthalmia, syndromic 9 10.3 STRA6 FGF10
11 ventricular septal defect 10.2 ZFPM2 NR2F2 GATA4
12 esophageal atresia/tracheoesophageal fistula 10.1 TEF FGF10
13 intestinal obstruction 10.1
14 neonatal respiratory failure 10.1 SFTPC SFTPB
15 diaphragmatic eventration 10.1 ZFPM2 TEF STRA6 PAX3
16 duodenal atresia 10.1 TEF FGF10
17 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.0
18 surfactant dysfunction 10.0 SFTPC SFTPB
19 respiratory distress syndrome in premature infants 10.0 SFTPC SFTPB
20 iron metabolism disease 10.0
21 inflammatory bowel disease 9.9
22 deafness, autosomal dominant 15 9.8 NR2F2 NR2F1
23 ovarian cancer 9.8
24 constipation 9.8
25 intestinal disease 9.8
26 crohn's disease 9.8
27 systemic lupus erythematosus 9.8
28 lupus erythematosus 9.8
29 celiac disease 1 9.7
30 gastrointestinal ulceration, recurrent, with dysfunctional platelets 9.7
31 colitis 9.7
32 crohn's colitis 9.7
33 gastric ulcer 9.7
34 diarrhea 9.7
35 duodenal ulcer 9.7
36 dyspepsia 9.7
37 gastroenteritis 9.7
38 eosinophilic gastroenteritis 9.7
39 ulcerative colitis 9.7
40 47,xyy 9.7
41 eosinophilic enteropathy 9.7
42 ovarian epithelial cancer 9.7
43 chronic pain 9.7
44 cytomegalovirus infection 9.7
45 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
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 10.33 ALDH1A2 EFNB1 FGF10 FREM1 GATA4 HLX
2 growth/size/body region MP:0005378 10.3 ALDH1A2 EFNB1 FGF10 FREM1 GATA4 HLX
3 endocrine/exocrine gland MP:0005379 10.28 ALDH1A2 EFNB1 FGF10 FREM1 GATA4 HLX
4 cardiovascular system MP:0005385 10.27 ALDH1A2 FGF10 GATA4 NR2F2 PAX3 SFTPC
5 homeostasis/metabolism MP:0005376 10.27 ALDH1A2 EFNB1 FGF10 GATA4 HLX NR2F2
6 digestive/alimentary MP:0005381 10.21 EFNB1 FGF10 FREM1 GATA4 HLX NR2F2
7 integument MP:0010771 10.13 EFNB1 FGF10 FREM1 GATA4 HLX PAX3
8 nervous system MP:0003631 10.13 ALDH1A2 EFNB1 FGF10 FREM1 GATA4 HLX
9 embryo MP:0005380 10.09 ALDH1A2 EFNB1 FGF10 GATA4 NR2F2 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

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Tangerine Approved Phase 2, Phase 3
2 Ginger 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 Upright Magnetic Resonance Imaging in COPD and Diaphragm Disease Recruiting NCT03531775
4 The Effects of Positive End-expiratory Pressure on the Position, Length and Contractibility of the Diaphragm. Active, not recruiting NCT03539640

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, Colon, Small Intestine, Lung

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

19
Diaphragm

Publications for Diaphragm Disease

Articles related to Diaphragm Disease:

(show top 50) (show all 103)
# Title Authors PMID Year
1
A rare cause of small bowel diaphragm disease presenting with palpated abdominal mass. 38
31391917 2019
2
Iron deficiency anaemia secondary to small-bowel diaphragm disease not associated with NSAIDs. Is there anything else to consider? 38
30459057 2019
3
Extensive NSAID-Induced Small Bowel 'Diaphragm Disease'. 38
31325137 2019
4
Jejunal diaphragm disease associated with cytomegalovirus infection. 38
31041370 2019
5
A Vasculitis-Associated Neuromuscular and Vascular Hamartoma Presenting as a Fatal Form of Abdominal Cocoon. 38
29992844 2019
6
Gastrointestinal Diaphragm Disease With Retained Capsule Endoscope, Associated With Crohn's Disease: A Case Report. 38
29890901 2019
7
Concordance of a laparoscopic scoring algorithm with primary surgery findings in advanced stage ovarian cancer. 38
30366647 2018
8
Diaphragm disease in advanced ovarian cancer: Predictability of pre-operative imaging and safety of surgical intervention. 38
29807350 2018
9
Nonsteroidal anti-inflammatory drugs induced diaphragm disease: a report of 3 cases and literature review. 38
29732361 2018
10
Diaphragm Disease: NSAID-Induced Small Bowel Stricture. 38
30022924 2018
11
Non-steroidal anti-inflammatory-induced small bowel diaphragm disease requiring bowel resection for recurrent small bowel obstruction. 38
29701291 2018
12
Small Bowel Obstruction due to Non-steroidal Anti-inflammatory Drug-induced Diaphragm Disease: A Case Report. 38
29796362 2018
13
Review article: a practical approach to the clinical management of NSAID enteropathy. 38
28587496 2017
14
Colonic Diaphragm Disease: An Important NSAID Complication to Know. 38
30766265 2017
15
A Curious Case of Intestinal Diaphragm Disease Unmasked by Perforation of a Duodenal Ulcer. 38
28523070 2017
16
Non-steroidal anti-inflammatory drug-induced diaphragm disease: an uncommon cause of small bowel obstruction. 38
27502342 2016
17
A prospective study evaluating diffusion weighted magnetic resonance imaging (DW-MRI) in the detection of peritoneal carcinomatosis in suspected gynecologic malignancies. 38
27103176 2016
18
Recurrence of an NSAID-induced diaphragmatic disease of the small intestine. 38
27170609 2016
19
Retained enteroscopy capsule in a patient with diaphragm disease. 38
27087343 2016
20
Clinical Features, Diagnosis, and Treatment Strategies of Gastrointestinal Diaphragm Disease Associated with Nonsteroidal Anti-Inflammatory Drugs. 38
27118967 2016
21
Neuromuscular and Vascular Hamartoma of the Small Intestine: An Exuberant Reparative Process Secondary to Chronic Inflammation. 38
26275621 2015
22
COLITIS AND "DIAPHRAGM DISEASE" OF THE COLON IN HEMODIALYSIS PATIENT DUE TO PROLONGED USE OF NON-STEROIDAL ANTI-INFLAMMATORY DRUG. 38
26939311 2015
23
Small bowel diaphragm disease mimicking malignancy. 38
26174729 2015
24
Diaphragm disease of the small intestine: an interesting case report. 38
25525150 2015
25
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. 38
25695545 2015
26
Small bowel diaphragm disease. 38
25595839 2015
27
Risk factors of symptomatic NSAID-induced small intestinal injury and diaphragm disease. 38
25041257 2014
28
Concurrent dual-scopic management of diaphragm disease. 38
24729312 2014
29
Histopathological changes in the gastrointestinal tract due to medications: an update for the surgical pathologist (part II of II). 38
24021900 2014
30
Gastrointestinal: diaphragm disease: emerging cause of gastrointestinal obstruction and bleeding. 38
24460836 2014
31
Diaphragm disease of the small bowel: a retrospective review of CT findings. 38
24450695 2014
32
Diaphragmatic disease of the colon: systematic review. 38
23517116 2013
33
The use of CT findings to predict extent of tumor at primary surgery for ovarian cancer. 38
23672930 2013
34
NSAID-induced diaphragmatic disease of the colon. 38
23709532 2013
35
Pan-enteric diaphragm disease. 38
22632580 2013
36
Idiopathic small bowel diaphragm disease identified by laparoscopic-assisted double-balloon enteroscopy in a child: an integrated successful definitive therapeutic method. 38
22901930 2012
37
Systematic review of small bowel diaphragm disease requiring surgery. 38
21812898 2012
38
Comparative evaluation of barium meal follow-through and barium enteroclysis before capsule endoscopy in obscure gastrointestinal bleeding. 38
22353508 2012
39
Consolidative radiation therapy for stage III Hodgkin lymphoma in patients who achieve complete response after ABVD chemotherapy. 38
21537149 2011
40
Diaphragm disease of the ileum: an unexpected cause of small bowel obstruction. 38
24950504 2011
41
Diaphragm disease compared with cryptogenic multifocal ulcerous stenosing enteritis. 38
21734797 2011
42
Diaphragm disease and small bowel enteropathy due to nonsteroidal anti-inflammatory drugs: a surgical perspective. 38
20041919 2011
43
Unusual case of acute intestinal obstruction. 38
21629545 2010
44
Subacute small bowel obstruction due to diaphragm disease. 38
20726468 2010
45
Adverse effects of drugs on small intestine and colon. 38
20227027 2010
46
Diaphragm disease of the jejunum. 38
19417974 2009
47
Capsule retention in a patient with eosinophilic gastroenteritis mimicking diaphragm disease of the small bowel. 38
19899044 2009
48
Nonsteroidal anti-inflammatory drug-induced small-bowel lesions identified by double-balloon endoscopy: endoscopic features of the lesions and endoscopic treatments for diaphragm disease. 38
19148795 2009
49
Colonic diaphragm disease without significant non-steroidal anti-inflammatory drug use: a case report. 38
18928531 2008
50
Histopathology of diaphragm disease of the small intestine: a study of 10 cases from a single institution. 38
18794043 2008

Variations for Diaphragm Disease

ClinVar genetic disease variations for Diaphragm Disease:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 WFS1 NM_006005.3(WFS1): c.1999C> T (p.Gln667Ter) single nucleotide variant Pathogenic 4:6303521-6303521 4:6301794-6301794
2 CHN1 NM_001822.5(CHN1): c.667G> A (p.Ala223Thr) single nucleotide variant Likely pathogenic 2:175689207-175689207 2:174824479-174824479
3 KIF1A NM_004321.7(KIF1A): c.2749C> T (p.His917Tyr) single nucleotide variant Uncertain significance 2:241686664-241686664 2:240747247-240747247

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 SFTPC SFTPB
2 lamellar body GO:0042599 8.96 SFTPC SFTPB
3 multivesicular body lumen GO:0097486 8.62 SFTPC SFTPB

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 9.91 ZFPM2 SLIT3 SLIT1 HLX FGF10 EFNB1
2 positive regulation of transcription, DNA-templated GO:0045893 9.89 ZFPM2 PAX3 NR2F2 GATA4 FGF10
3 nervous system development GO:0007399 9.8 SLIT3 SLIT1 PAX3 NR2F1 EFNB1
4 kidney development GO:0001822 9.69 WFS1 STRA6 ALDH1A2
5 response to estradiol GO:0032355 9.65 NR2F2 FGF10 ALDH1A2
6 ventricular septum development GO:0003281 9.61 STRA6 GATA4
7 pituitary gland development GO:0021983 9.6 FGF10 ALDH1A2
8 blood vessel morphogenesis GO:0048514 9.59 NR2F2 FGF10
9 embryonic pattern specification GO:0009880 9.58 FGF10 EFNB1
10 aortic valve morphogenesis GO:0003180 9.58 SLIT3 GATA4
11 response to vitamin A GO:0033189 9.57 GATA4 ALDH1A2
12 embryonic digestive tract morphogenesis GO:0048557 9.54 HLX FGF10
13 cardiac muscle tissue development GO:0048738 9.52 ZFPM2 ALDH1A2
14 embryonic camera-type eye development GO:0031076 9.46 FGF10 ALDH1A2
15 lung development GO:0030324 9.46 ZFPM2 STRA6 FGF10 ALDH1A2
16 pancreas development GO:0031016 9.43 WFS1 FGF10 ALDH1A2
17 axon extension involved in axon guidance GO:0048846 9.37 SLIT3 SLIT1
18 chemorepulsion involved in embryonic olfactory bulb interneuron precursor migration GO:0021834 9.32 SLIT3 SLIT1
19 embryonic digestive tract development GO:0048566 9.13 STRA6 FGF10 ALDH1A2
20 animal organ morphogenesis GO:0009887 8.92 SLIT3 SFTPB PAX3 FGF10
21 positive regulation of transcription by RNA polymerase II GO:0045944 10.03 ZFPM2 TEF PAX3 NR2F1 GATA4 FGF10
22 multicellular organism development GO:0007275 10.02 SLIT3 SLIT1 PAX3 HLX FREM1 EFNB1

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 ZFPM2 TEF PAX3 NR2F2 NR2F1 HLX
2 retinal binding GO:0016918 9.16 STRA6 ALDH1A2
3 sequence-specific DNA binding GO:0043565 9.1 TEF PAX3 NR2F2 NR2F1 HLX GATA4
4 Roundabout binding GO:0048495 8.96 SLIT3 SLIT1

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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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