Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect TGex
News and Views Disease Lists/Categories
About
About MalaCards Our Publications Academic Licensing Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
MCID: DPH021
MIFTS: 41

Diaphragm Disease

Categories: Respiratory diseases, Muscle diseases
Genes Tissues Related diseases Publications Pathways Drugs
Sources

Aliases & Classifications for Diaphragm Disease

About this section

MalaCards integrated aliases for Diaphragm Disease:

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

Classifications:

MalaCards categories:
Anatomical: Respiratory diseases Muscle diseases
See all MalaCards categories (disease lists)
ICD10: 33


External Ids:

Disease Ontology 12 DOID:10481
ICD10 33 J98.6
ICD9CM 35 519.4
SNOMED-CT 68 196182001 48475001
UMLS 73 C0152097
Sources

Summaries for Diaphragm Disease

About this section
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. The drug Menthol has been mentioned in the context of this disorder. Affiliated tissues include the diaphragm, cervix and lung, and related phenotypes are mortality/aging and growth/size/body region

Wikipedia : 76 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

About this section

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

(show all 25)
# Related Disease Score Top Affiliating Genes
1 diaphragmatic hernia, congenital 21.7 ALDH1A2 EFNB1 FGF10 FREM1 GATA4 HLX
2 meacham winn culler syndrome 10.8
3 complete atrioventricular canal-tetralogy of fallot syndrome 10.7 GATA4 NR2F2
4 complete atrioventricular canal-left heart obstruction syndrome 10.7 GATA4 NR2F2
5 partial atrioventricular canal 10.7 GATA4 NR2F2
6 complete atrioventricular canal-ventricle hypoplasia syndrome 10.7 GATA4 NR2F2
7 46,xy partial gonadal dysgenesis 10.6 GATA4 ZFPM2
8 ventricular septal defect 10.4 GATA4 NR2F2 ZFPM2
9 microphthalmia, syndromic 9 10.4 FGF10 STRA6
10 diaphragmatic eventration 10.3 STRA6 TEF ZFPM2
11 bosch-boonstra-schaaf optic atrophy syndrome 10.3 NR2F1 NR2F2
12 esophageal atresia/tracheoesophageal fistula 10.2 FGF10 TEF
13 respiratory distress syndrome in premature infants 9.8 SFTPB SFTPC
14 neonatal respiratory failure 9.7 SFTPB SFTPC
15 deafness, autosomal dominant 15 9.7 NR2F1 NR2F2
16 surfactant dysfunction 9.7 SFTPB SFTPC
17 ovarian cancer 9.6
18 crohn's disease 9.6
19 duodenal ulcer 9.6
20 gastroenteritis 9.6
21 eosinophilic gastroenteritis 9.6
22 duodenitis 9.6
23 eosinophilic enteropathy 9.6
24 cryptogenic multifocal ulcerous stenosing enteritis 9.6
25 newborn respiratory distress syndrome 9.4 SFTPB SFTPC

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
Sources

Symptoms & Phenotypes for Diaphragm Disease

About this section

MGI Mouse Phenotypes related to Diaphragm Disease:

46 (show all 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 10.28 EFNB1 FGF10 FREM1 GATA4 HLX NR2F1
2 growth/size/body region MP:0005378 10.26 ALDH1A2 EFNB1 FGF10 FREM1 GATA4 HLX
3 endocrine/exocrine gland MP:0005379 10.24 ZFPM2 ALDH1A2 EFNB1 FGF10 FREM1 GATA4
4 homeostasis/metabolism MP:0005376 10.24 EFNB1 FGF10 GATA4 HLX NR2F2 PAX3
5 cardiovascular system MP:0005385 10.23 ALDH1A2 FGF10 GATA4 NR2F2 PAX3 SFTPC
6 digestive/alimentary MP:0005381 10.16 EFNB1 FGF10 FREM1 GATA4 HLX NR2F2
7 nervous system MP:0003631 10.1 NR2F1 NR2F2 PAX3 SLIT3 STRA6 TEF
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 limbs/digits/tail MP:0005371 9.93 ALDH1A2 EFNB1 FGF10 FREM1 GATA4 PAX3
13 hearing/vestibular/ear MP:0005377 9.91 ALDH1A2 EFNB1 FGF10 NR2F1 PAX3
14 liver/biliary system MP:0005370 9.91 FREM1 GATA4 HLX PAX3 SLIT3 ZFPM2
15 respiratory system MP:0005388 9.9 ALDH1A2 EFNB1 FGF10 FREM1 GATA4 HLX
16 no phenotypic analysis MP:0003012 9.86 ZFPM2 EFNB1 GATA4 NR2F1 NR2F2 PAX3
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
Sources

Drugs & Therapeutics for Diaphragm Disease

About this section

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Menthol Approved Not Applicable 2216-51-5 16666

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Genetic Analysis of Congenital Diaphragmatic Disorders Recruiting NCT01243229
2 Effect PEEP on Diaphragm Recruiting NCT03539640 Not Applicable
3 Diaphragmatic Dysfunction and Cardiac Surgery; Perioperative Assessment and Effect on Outcome Recruiting NCT03126838
4 Real-time Effort Driven VENTilator Management Recruiting NCT03266016 Not Applicable
5 Efficacy of Costal Mobilization Techniques and Manual Diaphragm Release Technique in Patients COPD Recruiting NCT03022942 Not Applicable
6 Ultrasound Diaphragmatic Thickening to Monitor Its Dysfunction in Patients With Sepsis Recruiting NCT02474797 Not Applicable
7 Upright MRI in Lung Disease Not yet recruiting NCT03531775 Not Applicable

Search NIH Clinical Center for Diaphragm Disease

Sources

Genetic Tests for Diaphragm Disease

About this section

Genetic tests related to Diaphragm Disease:

# Genetic test Affiliating Genes
1 Abnormality of the Diaphragm 29
Sources

Anatomical Context for Diaphragm Disease

About this section

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

19
The Diaphragm

MalaCards organs/tissues related to Diaphragm Disease:

41
Cervix, Lung, Small Intestine, Colon
Sources

Publications for Diaphragm Disease

About this section

Articles related to Diaphragm Disease:

(show all 32)
# 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
A Curious Case of Intestinal Diaphragm Disease Unmasked by Perforation of a Duodenal Ulcer. ( 28523070 )
2017
7
Non-steroidal anti-inflammatory drug-induced diaphragm disease: an uncommon cause of small bowel obstruction. ( 27502342 )
2016
8
Clinical Features, Diagnosis, and Treatment Strategies of Gastrointestinal Diaphragm Disease Associated with Nonsteroidal Anti-Inflammatory Drugs. ( 27118967 )
2016
9
Retained enteroscopy capsule in a patient with diaphragm disease. ( 27087343 )
2016
10
Small bowel diaphragm disease. ( 25595839 )
2015
11
Small bowel diaphragm disease mimicking malignancy. ( 26174729 )
2015
12
Diaphragm disease of the small bowel: a retrospective review of CT findings. ( 24450695 )
2014
13
Diaphragm Disease of the Small Intestine: An Interesting Case Report. ( 25525150 )
2014
14
Gastrointestinal: diaphragm disease: emerging cause of gastrointestinal obstruction and bleeding. ( 24460836 )
2014
15
Concurrent dual-scopic management of diaphragm disease. ( 24729312 )
2014
16
Risk factors of symptomatic NSAID-induced small intestinal injury and diaphragm disease. ( 25041257 )
2014
17
Pan-enteric diaphragm disease. ( 22632580 )
2013
18
Idiopathic small bowel diaphragm disease identified by laparoscopic-assisted double-balloon enteroscopy in a child: an integrated successful definitive therapeutic method. ( 22901930 )
2012
19
Systematic review of small bowel diaphragm disease requiring surgery. ( 21812898 )
2012
20
Diaphragm disease and small bowel enteropathy due to nonsteroidal anti-inflammatory drugs: a surgical perspective. ( 20041919 )
2011
21
Diaphragm disease of the ileum: an unexpected cause of small bowel obstruction. ( 24950504 )
2011
22
Diaphragm disease compared with cryptogenic multifocal ulcerous stenosing enteritis. ( 21734797 )
2011
23
Subacute small bowel obstruction due to diaphragm disease. ( 20726468 )
2010
24
Diaphragm disease of the jejunum. ( 19417974 )
2009
25
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
26
Capsule retention in a patient with eosinophilic gastroenteritis mimicking diaphragm disease of the small bowel. ( 19899044 )
2009
27
Colonic diaphragm disease without significant non-steroidal anti-inflammatory drug use: a case report. ( 18928531 )
2008
28
Histopathology of diaphragm disease of the small intestine: a study of 10 cases from a single institution. ( 18794043 )
2008
29
Rofecoxib associated with diaphragm disease. ( 18067698 )
2007
30
Non-steroidal anti-inflammatory drug-induced small bowel diaphragm disease. ( 17501897 )
2007
31
Treatment of small-bowel diaphragm disease by using double-balloon enteroscopy. ( 17140921 )
2006
32
Diaphragm disease of the ileum. ( 17462344 )
2006
Sources

Variations for Diaphragm Disease

About this section
Sources

Expression for Diaphragm Disease

About this section
Search GEO for disease gene expression data for Diaphragm Disease.
Sources

Pathways for Diaphragm Disease

About this section

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

# Super pathways Score Top Affiliating Genes
1
Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4) 66
Show member pathways
 10.35 SFTPB SFTPC
2
Oct4 in Mammalian ESC Pluripotency 64
9.85 NR2F1 NR2F2
Sources

GO Terms for Diaphragm Disease

About this section

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 17)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.99 EFNB1 FREM1 HLX PAX3 SLIT3 TEF
2 positive regulation of transcription by RNA polymerase II GO:0045944 9.91 FGF10 GATA4 NR2F1 PAX3 TEF ZFPM2
3 positive regulation of transcription, DNA-templated GO:0045893 9.77 FGF10 GATA4 NR2F2 PAX3 ZFPM2
4 ventricular septum development GO:0003281 9.57 GATA4 STRA6
5 pituitary gland development GO:0021983 9.56 ALDH1A2 FGF10
6 blood vessel morphogenesis GO:0048514 9.55 FGF10 NR2F2
7 pancreas development GO:0031016 9.54 ALDH1A2 FGF10
8 embryonic pattern specification GO:0009880 9.52 EFNB1 FGF10
9 response to estradiol GO:0032355 9.5 ALDH1A2 FGF10 NR2F2
10 cardiac muscle tissue development GO:0048738 9.49 ALDH1A2 ZFPM2
11 response to vitamin A GO:0033189 9.48 ALDH1A2 GATA4
12 embryonic digestive tract morphogenesis GO:0048557 9.46 FGF10 HLX
13 lung development GO:0030324 9.46 ALDH1A2 FGF10 STRA6 ZFPM2
14 retinoic acid metabolic process GO:0042573 9.4 ALDH1A2 STRA6
15 embryonic camera-type eye development GO:0031076 9.26 ALDH1A2 FGF10
16 embryonic digestive tract development GO:0048566 9.13 ALDH1A2 FGF10 STRA6
17 animal organ morphogenesis GO:0009887 9.02 FGF10 GATA4 PAX3 SFTPB SLIT3

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

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000981 9.7 GATA4 HLX NR2F1 NR2F2 PAX3 TEF
2 sequence-specific DNA binding GO:0043565 9.1 GATA4 HLX NR2F1 NR2F2 PAX3 TEF
3 retinal binding GO:0016918 8.96 ALDH1A2 STRA6
Sources

Sources for Diaphragm Disease

About this section
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
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
Content
Loading form....