MCID: DPH021
MIFTS: 43

Diaphragm Disease

Categories: Muscle diseases, Respiratory diseases
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Aliases & Classifications for Diaphragm Disease

MalaCards integrated aliases for Diaphragm Disease:

Name: Diaphragm Disease 11 14 16
Abnormality of the Diaphragm 28 5
Disease of Diaphragm 71 33
Diaphragmatic Disorder 33
Disorder of Diaphragm 33

Classifications:



External Ids:

Disease Ontology 11 DOID:10481
ICD9CM 34 519.4
SNOMED-CT 68 48475001
ICD10 31 J98.6
ICD11 33 1894965106
UMLS 71 C0152097

Summaries for Diaphragm Disease

Disease Ontology: 11 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 Cells and Lineage-specific Markers and Kallmann syndrome. The drugs Ethanol and Levobupivacaine have been mentioned in the context of this disorder. Affiliated tissues include diaphragm, small intestine and colon, and related phenotypes are nervous system and growth/size/body region

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 77)
# Related Disease Score Top Affiliating Genes
1 diaphragmatic hernia, congenital 29.8 ZFPM2 TMEM98 STRA6 SOX7 SLIT1 SFTPC
2 duane retraction syndrome 1 10.4 WFS1 CHN1
3 testicular thecoma 10.4 ZFPM2 GATA4
4 45,x/46,xy mixed gonadal dysgenesis 10.4 ZFPM2 GATA4
5 congenital heart defects, multiple types, 4 10.3 NR2F2 GATA4
6 ventricular septal defect 10.3 ZFPM2 NR2F2 GATA4
7 aqueous misdirection 10.3 TMEM98 MYRF
8 donnai-barrow syndrome 10.3 ZFPM2 STRA6 MYRF
9 46,xy partial gonadal dysgenesis 10.3 ZFPM2 GATA4
10 46,xy sex reversal 9 10.3 ZFPM2 GATA4
11 microphthalmia, syndromic 9 10.3 STRA6 MYRF ALDH1A2
12 surfactant dysfunction 10.3 SFTPC SFTPB
13 interval angle-closure glaucoma 10.3 TMEM98 MYRF
14 respiratory distress syndrome in premature infants 10.3 SFTPC SFTPB
15 hereditary pulmonary alveolar proteinosis 10.3 SFTPC SFTPB
16 hypoplastic left heart syndrome 10.3 ZFPM2 NR2F2 GATA4
17 isolated microphthalmia 10.3 TMEM98 STRA6
18 pulmonary interstitial emphysema 10.3 SFTPC SFTPB
19 lipid pneumonia 10.3 SFTPC SFTPB
20 microphthalmia, isolated 6 10.3 TMEM98 MYRF
21 pulmonary hemosiderosis 10.3 SFTPC SFTPB
22 pulmonary immaturity 10.3 SFTPC SFTPB
23 total anomalous pulmonary venous return 1 10.3 TMEM98 MYRF GATA4
24 microphthalmia, syndromic 12 10.3 STRA6 FREM1 DISP1
25 hypotrichosis-lymphedema-telangiectasia syndrome 10.2 SOX7 NR2F2
26 interstitial pneumonitis, desquamative, familial 10.2 SFTPC SFTPB
27 cornelia de lange syndrome 1 10.2 WFS1 NIPBL DISP1
28 atrioventricular septal defect 10.2 ZFPM2 NR2F2 NR2F1 GATA4
29 refractive error 10.2 TMEM98 CHN1 BLOC1S1
30 patent ductus arteriosus 1 10.2 ZFPM2 SFTPB GATA4
31 holoprosencephaly 7 10.2 DISP1 ALDH1A2
32 46,xy sex reversal 10.2 ZFPM2 NR2F2 NR2F1 GATA4
33 intestinal obstruction 10.2
34 bosch-boonstra-schaaf optic atrophy syndrome 10.2 NR2F2 NR2F1
35 tricuspid atresia 10.2 ZFPM2 GATA4
36 kenny-caffey syndrome 10.2 TMEM98 MYRF
37 neonatal respiratory failure 10.2 SFTPC SFTPB FGF10
38 laryngomalacia 10.2 WFS1 CHN1
39 disorder of sexual development 10.2 ZFPM2 MYRF GATA4
40 atrial heart septal defect 10.2 ZFPM2 NIPBL GATA4
41 deficiency anemia 10.2
42 double outlet right ventricle 10.1 ZFPM2 NR2F2 GATA4 FGF10 ALDH1A2
43 iron metabolism disease 10.1
44 wolf-hirschhorn syndrome 10.1 ZFPM2 WFS1 STRA6 NR2F2 GATA4 DISP1
45 bronchopulmonary dysplasia 10.1 SFTPB FGF10
46 systemic lupus erythematosus 10.0
47 systemic lupus erythematosus 1 10.0
48 newborn respiratory distress syndrome 9.9 SFTPC SFTPB
49 ovarian cancer 9.9
50 inflammatory bowel disease 1 9.9

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

GenomeRNAi Phenotypes related to Diaphragm Disease according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.2 ALDH1A2 BLOC1S1 CHN1 DISP1 FGF10 FREM1
2 no effect GR00402-S-2 10.2 ALDH1A2 BLOC1S1 CHN1 DISP1 FGF10 GATA4

MGI Mouse Phenotypes related to Diaphragm Disease:

45 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.35 ALDH1A2 CHN1 DISP1 FGF10 FREM1 GATA4
2 growth/size/body region MP:0005378 10.35 ALDH1A2 CHN1 DISP1 FGF10 FREM1 GATA4
3 homeostasis/metabolism MP:0005376 10.31 ALDH1A2 BLOC1S1 CHN1 DISP1 FGF10 GATA4
4 muscle MP:0005369 10.22 ALDH1A2 CHN1 DISP1 FGF10 FREM1 GATA4
5 normal MP:0002873 10.21 ALDH1A2 CHN1 DISP1 FGF10 FREM1 GATA4
6 embryo MP:0005380 10.17 ALDH1A2 DISP1 FGF10 GATA4 NIPBL NR2F1
7 endocrine/exocrine gland MP:0005379 10.16 ALDH1A2 DISP1 FGF10 FREM1 GATA4 NR2F2
8 no phenotypic analysis MP:0003012 10.15 GATA4 NR2F1 NR2F2 SFTPC SLIT1 SOX7
9 cellular MP:0005384 10.15 ALDH1A2 BLOC1S1 CHN1 DISP1 FGF10 GATA4
10 limbs/digits/tail MP:0005371 10.05 ALDH1A2 DISP1 FGF10 FREM1 GATA4 NIPBL
11 pigmentation MP:0001186 10.04 BLOC1S1 MYRF NR2F1 NR2F2 STRA6 TMEM98
12 cardiovascular system MP:0005385 10.02 ALDH1A2 DISP1 FGF10 GATA4 NIPBL NR2F2
13 craniofacial MP:0005382 9.95 ALDH1A2 DISP1 FGF10 FREM1 NIPBL PIGN
14 respiratory system MP:0005388 9.86 ALDH1A2 DISP1 FGF10 FREM1 GATA4 SFTPB
15 reproductive system MP:0005389 9.85 ALDH1A2 FGF10 FREM1 GATA4 NR2F2 PIGN
16 vision/eye MP:0005391 9.8 ALDH1A2 BLOC1S1 CHN1 DISP1 FGF10 FREM1
17 mortality/aging MP:0010768 9.62 ALDH1A2 BLOC1S1 CHN1 DISP1 FGF10 FREM1

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
Ethanol Approved 64-17-5 702
2
Levobupivacaine Approved, Investigational 27262-47-1 92253
3 Analgesics
4 Anesthetics, Local
5 Anesthetics

Interventional clinical trials:

(show all 16)
# Name Status NCT ID Phase Drugs
1 Vurdering af Diafragmas Funktion. Et Metodestudie og et Klinisk Studie Unknown status NCT04098939
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 Unknown status NCT03531775
4 Efficacy of Costal Mobilization Techniques and Diaphragm Release in Thoracoabdominal Kinematics, Diaphragm Mobility and Submaximal Functional Capacity in Patients With Chronic Obstructive Pulmonary Disease: A Randomized Controlled Trial Unknown status NCT03022942
5 Evaluation of a 2-hour Educational Programme in Diaphragm Ultrasonographic Assessment Completed NCT03704129
6 Surgical Anatomy of the Distal Portion of the Phrenic Nerve Completed NCT04716504
7 The Effects of Positive End-expiratory Pressure on the Position, Length and Contractibility of the Diaphragm. Completed NCT03539640
8 Evaluation of Diaphragm Functions in Laparoscopic Bariatric Surgeries Completed NCT04828408
9 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
10 Assessment of Diaphragmatic Function by Ultrasonographic Measure of Diaphragmatic Thickening in Severe Sepsis or Septic Shock Patients Hospitalized in ICU: Diaphragmatic Dysfunction Frequency, Prognosis Values and Associated Factors Completed NCT02474797
11 Respiratory Sequelae and Analgesic Efficacy of Different Local Anesthetic Volumes in Ultrasound-guided Interscalene Brachial Plexus Block in Patients Presented for Shoulder Arthroscopy Completed NCT04549779
12 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
13 Identifying and Preventing Ventilator Induced Diaphragm Dysfunction in Children Recruiting NCT03266016
14 Prospective Observational Study on Left Ventricular Diastolic Dysfunction as a Predictor of Weaning Failure From Mechanical Ventilation Recruiting NCT04703387
15 Diaphragm Ultrasound Evaluation During Weaning From Mechanical Ventilation in the Positive COVID-19 Patient Active, not recruiting NCT05019313
16 Invasive Measurement of Positive Tracheal Pressure Generated by High Flow Nasal Oxygen Administration in Critically Ill Patients After Extubation: a Physiologic Study. Not yet recruiting NCT05467332

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 28

Anatomical Context for Diaphragm Disease

Organs/tissues related to Diaphragm Disease:

FMA: Diaphragm
MalaCards : Small Intestine, Colon, Lung

Publications for Diaphragm Disease

Articles related to Diaphragm Disease:

(show top 50) (show all 118)
# Title Authors PMID Year
1
The utility of CT Colonography in colonic diaphragm disease: Case report. 62
34920139 2022
2
Machine learning methods to predict presence of residual cancer following hysterectomy. 62
35177700 2022
3
Diaphragm Disease of the Small Bowel Presenting With Intussusception. 62
34993047 2021
4
NSAID-induced colonic diaphragm disease. 62
34089915 2021
5
Idiopathic small bowel diaphragm disease: a case report. 62
33133497 2020
6
Colonic diaphragm disease secondary to nonsteroidal anti-inflammatory drug use. 62
32675960 2020
7
Enteroscopic diagnosis of intestinal malabsorption of a rare etiology: diaphragm disease. 62
32054283 2020
8
Diaphragm disease in emergency surgery. 62
32239996 2020
9
Extensive NSAID-Induced Small Bowel 'Diaphragm Disease'. 62
31325137 2020
10
Tozzi classification of diaphragmatic surgery in patients with stage IIIC-IV ovarian cancer based on surgical findings and complexity. 62
31912672 2020
11
Diaphragm disease of the terminal ileum presenting as acute small bowel obstruction. 62
32034000 2020
12
Diaphragm disease associated with nonsteroidal anti-inflammatory drugs mimicking intestinal tumor: A case report. 62
33032041 2020
13
Small bowel diaphragm disease from long-term non-steroidal anti-inflammatory use. 62
31586954 2019
14
Non-steroidal anti-inflammatory-induced small bowel diaphragm disease requiring bowel resection for recurrent small bowel obstruction. 62
29701291 2019
15
Iron deficiency anaemia secondary to small-bowel diaphragm disease not associated with NSAIDs. Is there anything else to consider? 62
30459057 2019
16
A rare cause of small bowel diaphragm disease presenting with palpated abdominal mass. 62
31391917 2019
17
Jejunal diaphragm disease associated with cytomegalovirus infection. 62
31041370 2019
18
A Vasculitis-Associated Neuromuscular and Vascular Hamartoma Presenting as a Fatal Form of Abdominal Cocoon. 62
29992844 2019
19
Gastrointestinal Diaphragm Disease With Retained Capsule Endoscope, Associated With Crohn's Disease: A Case Report. 62
29890901 2019
20
Concordance of a laparoscopic scoring algorithm with primary surgery findings in advanced stage ovarian cancer. 62
30366647 2018
21
Diaphragm disease in advanced ovarian cancer: Predictability of pre-operative imaging and safety of surgical intervention. 62
29807350 2018
22
Nonsteroidal anti-inflammatory drugs induced diaphragm disease: a report of 3 cases and literature review. 62
29732361 2018
23
Diaphragm Disease: NSAID-Induced Small Bowel Stricture. 62
30022924 2018
24
Small Bowel Obstruction due to Non-steroidal Anti-inflammatory Drug-induced Diaphragm Disease: A Case Report. 62
29796362 2018
25
Review article: a practical approach to the clinical management of NSAID enteropathy. 62
28587496 2017
26
Diaphragmatic hydatid disease: a diagnostic challenge for the radiologist. 62
29492938 2017
27
Colonic Diaphragm Disease: An Important NSAID Complication to Know. 62
30766265 2017
28
A Curious Case of Intestinal Diaphragm Disease Unmasked by Perforation of a Duodenal Ulcer. 62
28523070 2017
29
Non-steroidal anti-inflammatory drug-induced diaphragm disease: an uncommon cause of small bowel obstruction. 62
27502342 2016
30
A prospective study evaluating diffusion weighted magnetic resonance imaging (DW-MRI) in the detection of peritoneal carcinomatosis in suspected gynecologic malignancies. 62
27103176 2016
31
Retained enteroscopy capsule in a patient with diaphragm disease. 62
27087343 2016
32
Recurrence of an NSAID-induced diaphragmatic disease of the small intestine. 62
27170609 2016
33
Clinical Features, Diagnosis, and Treatment Strategies of Gastrointestinal Diaphragm Disease Associated with Nonsteroidal Anti-Inflammatory Drugs. 62
27118967 2016
34
Neuromuscular and Vascular Hamartoma of the Small Intestine: An Exuberant Reparative Process Secondary to Chronic Inflammation. 62
26275621 2015
35
COLITIS AND "DIAPHRAGM DISEASE" OF THE COLON IN HEMODIALYSIS PATIENT DUE TO PROLONGED USE OF NON-STEROIDAL ANTI-INFLAMMATORY DRUG. 62
26939311 2015
36
Small bowel diaphragm disease mimicking malignancy. 62
26174729 2015
37
Diaphragm disease of the small intestine: an interesting case report. 62
25525150 2015
38
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. 62
25695545 2015
39
Small bowel diaphragm disease. 62
25595839 2015
40
Risk factors of symptomatic NSAID-induced small intestinal injury and diaphragm disease. 62
25041257 2014
41
Concurrent dual-scopic management of diaphragm disease. 62
24729312 2014
42
Histopathological changes in the gastrointestinal tract due to medications: an update for the surgical pathologist (part II of II). 62
24021900 2014
43
Diaphragm disease of the small bowel: a retrospective review of CT findings. 62
24450695 2014
44
Gastrointestinal: diaphragm disease: emerging cause of gastrointestinal obstruction and bleeding. 62
24460836 2014
45
Diaphragmatic disease of the colon: systematic review. 62
23517116 2013
46
The use of CT findings to predict extent of tumor at primary surgery for ovarian cancer. 62
23672930 2013
47
NSAID-induced diaphragmatic disease of the colon. 62
23709532 2013
48
Pan-enteric diaphragm disease. 62
22632580 2013
49
Idiopathic small bowel diaphragm disease identified by laparoscopic-assisted double-balloon enteroscopy in a child: an integrated successful definitive therapeutic method. 62
22901930 2012
50
Systematic review of small bowel diaphragm disease requiring surgery. 62
21812898 2012

Variations for Diaphragm Disease

ClinVar genetic disease variations for Diaphragm Disease:

5
# 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_001244008.2(KIF1A):c.3052C>T (p.His1018Tyr) SNV Uncertain Significance
598972 rs1356639316 GRCh37: 2:241686664-241686664
GRCh38: 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 lamellar body GO:0042599 9.46 SFTPC SFTPB
2 multivesicular body lumen GO:0097486 9.26 SFTPC SFTPB
3 alveolar lamellar body GO:0097208 8.92 SFTPC SFTPB

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

# Name GO ID Score Top Affiliating Genes
1 anatomical structure morphogenesis GO:0009653 9.85 ZFPM2 SOX7 GATA4 FREM1
2 cell differentiation GO:0030154 9.77 ZFPM2 SOX7 SLIT1 NR2F2 NR2F1 MYRF
3 embryonic camera-type eye development GO:0031076 9.76 FGF10 ALDH1A2
4 pancreas development GO:0031016 9.73 ALDH1A2 FGF10 WFS1
5 diaphragm development GO:0060539 9.71 STRA6 DISP1
6 lung development GO:0030324 9.7 ZFPM2 STRA6 FGF10 ALDH1A2
7 uterus morphogenesis GO:0061038 9.62 STRA6 NIPBL
8 system development GO:0048731 9.43 ZFPM2 GATA4
9 embryonic digestive tract development GO:0048566 9.02 STRA6 FGF10 ALDH1A2

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

# Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.61 SOX7 NR2F2 NR2F1 MYRF GATA4
2 retinal binding GO:0016918 8.92 STRA6 ALDH1A2

Sources for Diaphragm Disease

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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