CDH
MCID: CNG015
MIFTS: 55

Congenital Diaphragmatic Hernia (CDH) malady

Gastrointestinal diseases, Ear diseases, Endocrine diseases categories

Summaries for Congenital Diaphragmatic Hernia

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42NIH Rare Diseases, 21Genetics Home Reference, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 Congenital diaphragmatic hernia (cdh) is the lack of development before birth of all or part of the diaphragm, which normally separates the organs in the abdomen from those in the chest cavity. it can range in severity from a thinned area in the diaphragm to its complete absence. cdh may allow the stomach and intestines to move into the chest cavity, crowding the heart and lungs. this can then lead to underdevelopment of the lungs (pulmonary hypoplasia), potentially causing life-threatening complications. cdh has many different causes and occurs with other malformations in some cases. treatment options depend on the severity of the defect. last updated: 11/27/2012

MalaCards: Congenital Diaphragmatic Hernia, also known as congenital diaphragmatic defect, is related to respiratory failure and hypertension. An important gene associated with Congenital Diaphragmatic Hernia is HCCS (holocytochrome c synthase). Affiliated tissues include lung, heart and thyroid, and related mouse phenotypes are respiratory system and digestive/alimentary.

Genetics Home Reference:21 Congenital diaphragmatic hernia is a defect in the diaphragm. The diaphragm, which is composed of muscle and other fibrous tissue, separates the organs in the abdomen from those in the chest. Abnormal development of the diaphragm before birth leads to defects ranging from a thinned area in the diaphragm to its complete absence. An absent or partially formed diaphragm results in an abnormal opening (hernia) that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs. This crowding can lead to underdevelopment of the lungs (pulmonary hypoplasia), potentially resulting in life-threatening breathing difficulties that are apparent from birth.

Wikipedia:63 Congenital diaphragmatic hernia (CDH) is a congenital malformation (birth defect) of the diaphragm. The... more...

Description from OMIM:46 610187

GeneReviews summary for cdh-ov

Aliases & Classifications for Congenital Diaphragmatic Hernia

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8Disease Ontology, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 60UMLS, 44Novoseek, 56SNOMED-CT, 46OMIM, 34MeSH, 39NCIt, 25ICD10
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Classifications:



Aliases & Descriptions:

congenital diaphragmatic hernia 8 19 42 20 22 21 10
congenital diaphragmatic defect 42 21
thyroid hormone plasma membrane transport defect 60
craniofacial deafness hand syndrome 60
unilateral agenesis of diaphragm 42
hernia diaphragmatic congenital 44
agenesis of hemidiaphragm 42
hernia diaphragmatic 44
diaphragmatic hernia 8
cdh 42


Related Diseases for Congenital Diaphragmatic Hernia

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17GeneCards, 18GeneDecks
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Diseases in the Diaphragmatic Hernia 3 family:

congenital diaphragmatic hernia Dih1-Related Congenital Diaphragmatic Hernia
Hernia, Congenital Diaphragmatic 2 Hernia, Congenital Diaphragmatic 1

Diseases related to Congenital Diaphragmatic Hernia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 222)
idRelated DiseaseScoreTop Affiliating Genes
1respiratory failure30.1NKX2-1, AQP5, SCGB1A1
2hypertension10.8
3esophagitis10.7
4esophageal atresia10.7
5diaphragmatic hernia 310.6
6thyroid hormone plasma membrane transport defect10.6
7fryns syndrome10.5
8donnai-barrow syndrome10.5
9diaphragmatic eventration10.5
10hepatitis10.5
11thyroiditis10.5
12wolf-hirschhorn syndrome10.4
13gastroschisis10.4
14polyhydramnios10.4
15gastric dilatation10.4
16microphthalmia10.4
17dandy-walker malformation with nasopharyngeal teratoma and diaphragmatic hernia10.4
18patent foramen ovale10.4
19glanzmann's thrombasthenia10.4
20takayasu's arteritis10.4
21atrioventricular septal defect10.4
22atrial heart septal defect10.4
23urea cycle disorder10.4
24hereditary folate malabsorption10.4
25zap70-related severe combined immunodeficiency10.4
26acro-pectoro-renal field defect10.4
27ankle defects short stature10.4
28branchial arch defects10.4
29cardioskeletal syndrome kuwaiti type10.4
30sacral defect with anterior meningocele10.4
31caudal regression syndrome10.4
32chylomicron retention disease10.4
33x-linked creatine deficiency10.4
34cystinosis, ocular nonnephropathic10.4
35hmg coa lyase deficiency10.4
36imerslund-grasbeck syndrome10.4
37defective apolipoprotein b-10010.4
38peroxisome disorders10.4
39heart defect, tongue hamartoma and polysyndactyly10.4
40hermansky pudlak syndrome 210.4
41heterotaxy10.4
42red cell phospholipid defect with hemolysis10.4
43hyperthermia induced defects10.4
44lateral body wall defect10.4
45laterality defects dominant10.4
46limb reduction defect10.4
47overgrowth radial ray defect arthrogryposis10.4
48paraomphalocele10.4
49reductional transverse limb defects10.4
50renal agenesis meningomyelocele mullerian defect10.4

Graphical network of the top 20 diseases related to Congenital Diaphragmatic Hernia:



Diseases related to congenital diaphragmatic hernia

Clinical Features for Congenital Diaphragmatic Hernia

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46OMIM
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Clinical features from OMIM:

610187

Drugs & Therapeutics for Congenital Diaphragmatic Hernia

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Congenital Diaphragmatic Hernia

Drug clinical trials:

Search ClinicalTrials for Congenital Diaphragmatic Hernia

Search NIH Clinical Center for Congenital Diaphragmatic Hernia

Search CenterWatch for Congenital Diaphragmatic Hernia

Genetic Tests for Congenital Diaphragmatic Hernia

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20GeneTests, 22GTR
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Genetic tests related to Congenital Diaphragmatic Hernia:

id Genetic test Affiliating Genes
1 Congenital Diaphragmatic Hernia20 22

Anatomical Context for Congenital Diaphragmatic Hernia

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32MalaCards
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MalaCards organs/tissues related to Congenital Diaphragmatic Hernia:

32
Lung, Heart, Thyroid, Liver, Fetal lung, Endothelial, Kidney, Spleen, Testes, Bone, Small intestine, Smooth muscle, Brain, Thymus, Skin

Animal Models for Congenital Diaphragmatic Hernia or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Congenital Diaphragmatic Hernia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000538810.5AQP5, FGFRL1, FGF18, EFNB1, NKX2-1, SCGB1A1
2MP:000538110.4YIPF6, NKX2-1, EFNB1, CYP26A1, FGF18, AQP5
3MP:000539010.3FGFRL1, FGF18, HOXB5, CYP26A1, EFNB1, NKX2-1
4MP:000537810.3YIPF6, SCGB1A1, NKX2-1, HCCS, EFNB1, CYP26A1
5MP:001076810.1CAMLG, YIPF6, SCGB1A1, NKX2-1, HCCS, EFNB1
6MP:000537910.1YIPF6, SCGB1A1, TCTE3

Publications for Congenital Diaphragmatic Hernia

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50PubMed
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Articles related to Congenital Diaphragmatic Hernia:

(show top 50)    (show all 599)
idTitleAuthorsYear
1
Osteogenesis imperfecta and congenital diaphragmatic hernia. (23345474)
2013
2
Intravenous Sildenafil in the Management of Pulmonary Hypertension Associated with Congenital Diaphragmatic Hernia. (24163194)
2013
3
Usefulness of lung-to-head ratio and intrapulmonary arterial Doppler in predicting neonatal morbidity in fetuses with congenital diaphragmatic hernia treated with fetoscopic tracheal occlusion. (22689226)
2013
4
Neurally adjusted ventilatory assist in weaning of neonates affected by congenital diaphragmatic hernia. (23126605)
2013
5
Stability prior to surgery in Congenital Diaphragmatic Hernia: is it necessary? (23701760)
2013
6
Congenital diaphragmatic hernia: an evaluation of risk factors for failure of thoracoscopic primary repair in neonates. (23480901)
2013
7
Clinical characteristics and outcomes of patients with cardiac defects and congenital diaphragmatic hernia. (22867985)
2013
8
Congenital diaphragmatic hernia. (23114974)
2012
9
Using serial oxygenation index as an objective predictor of survival for antenatally diagnosed congenital diaphragmatic hernia. (23163987)
2012
10
A family-based paradigm to identify candidate chromosomal regions for isolated congenital diaphragmatic hernia. (23165927)
2012
11
Does a highest pre-ductal O(2) saturation <85% predict non-survival for congenital diaphragmatic hernia? (22382860)
2012
12
Use of magnetic resonance imaging in prenatal prognosis of the fetus with isolated left congenital diaphragmatic hernia. (22674674)
2012
13
Outcomes of congenital diaphragmatic hernia: a 12-year experience. (22499217)
2012
14
Quantitative pulmonary perfusion imaging at 3.0 T of 2-year-old children after congenital diaphragmatic hernia repair: initial results. (22692394)
2012
15
Prospective longitudinal evaluation of lung function during the first year of life after repair of congenital diaphragmatic hernia. (21666527)
2012
16
Antenatal imatinib treatment reduces pulmonary vascular remodeling in a rat model of congenital diaphragmatic hernia. (22447953)
2012
17
Congenital diaphragmatic hernia and protective ventilation strategies in pediatric surgery. (22595714)
2012
18
What is the best prosthetic material for patch repair of congenital diaphragmatic hernia? Comparison and meta-analysis of porcine small intestinal submucosa and polytetrafluoroethylene. (22901906)
2012
19
Surgical techniques in congenital diaphragmatic hernia. (23114976)
2012
20
The correlation between lung volume and liver herniation measurements by fetal MRI in isolated congenital diaphragmatic hernia: a systematic review and meta-analysis of observational studies. (21915885)
2011
21
Congenital diaphragmatic hernia: still a moving target. (21463974)
2011
22
Patch repair is an independent predictor of morbidity and mortality in congenital diaphragmatic hernia. (21590477)
2011
23
Prediction of postnatal outcomes in congenital diaphragmatic hernia using MRI signal intensity of the fetal lung. (21052047)
2011
24
Perioperative course of pulmonary hypertension in infants with congenital diaphragmatic hernia: impact on outcome following successful repair. (21496528)
2011
25
Technical aspects of fetal endoscopic tracheal occlusion for congenital diaphragmatic hernia. (21238635)
2011
26
Re-evaluation of stomach position as a simple prognostic factor in fetal left congenital diaphragmatic hernia: a multicenter survey in Japan. (21337653)
2011
27
Use of data from predictive tests following fetoscopic endoluminal tracheal occlusion for congenital diaphragmatic hernia. (21389679)
2011
28
Fetal surgery for congenital diaphragmatic hernia is back from never gone. (21325858)
2011
29
The VICI-trial: high frequency oscillation versus conventional mechanical ventilation in newborns with congenital diaphragmatic hernia: an international multicentre randomized controlled trial. (22047542)
2011
30
Congenital diaphragmatic hernia: review of current concept in surgical management. (22229104)
2011
31
Congenital diaphragmatic hernia: lung-to-head ratio and lung volume for prediction of outcome. (21529758)
2011
32
Congenital diaphragmatic hernia in Lowe syndrome: a rare association? (20823704)
2010
33
Congenital diaphragmatic hernia following usage of lithium carbonate; is lithium a teratogen? (23056695)
2010
34
Early repair of congenital diaphragmatic hernia on extracorporeal membrane oxygenation. (20385272)
2010
35
Abnormal platelet-derived growth factor signaling accounting for lung hypoplasia in experimental congenital diaphragmatic hernia. (20920717)
2010
36
Neonatal endosurgical congenital diaphragmatic hernia repair: a systematic review and meta-analysis. (20505506)
2010
37
Successful thoracoscopic staged repair of bilateral congenital diaphragmatic hernia. (20385267)
2010
38
Fetal lung assessment in congenital diaphragmatic hernia: evidence for growth. (20443196)
2010
39
Impaired somatic growth and delayed lung development in infants with congenital diaphragmatic hernia--evidence from a 10-year, single center prospective follow-up study. (19573653)
2009
40
A unique case of a congenital diaphragmatic hernia in a boy with albinism. (20005999)
2009
41
Congenital diaphragmatic hernia: neonatal outcomes following referral to a paediatric surgical centre. (19873868)
2009
42
Decreased surfactant phosphatidylcholine synthesis in neonates with congenital diaphragmatic hernia during extracorporeal membrane oxygenation. (19582395)
2009
43
Esophageal adenocarcinoma: a long-term complication of congenital diaphragmatic hernia? (17618865)
2007
44
Genome-wide oligonucleotide-based array comparative genome hybridization analysis of non-isolated congenital diaphragmatic hernia. (17210672)
2007
45
Pulmonary hypertension in human newborns with congenital diaphragmatic hernia is associated with decreased vascular expression of nitric-oxide synthase. (16456243)
2006
46
Congenital diaphragmatic hernia in a patient with tetrasomy 9p. (16226972)
2005
47
Fetal surgery for lung lesions, congenital diaphragmatic hernia, and sacrococcygeal teratoma. (12961109)
2003
48
Congenital bronchobiliary fistula in association with right-sided congenital diaphragmatic hernia. (12149705)
2002
49
Cholecystokinin administration in congenital diaphragmatic hernia--a case report and review of the literature. (10770248)
2000
50
Congenital diaphragmatic hernia and intrathoracic intestinal volvulus. (8292583)
1993

Genetic Variations for Congenital Diaphragmatic Hernia

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Expression for genes affiliated with Congenital Diaphragmatic Hernia

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Congenital Diaphragmatic Hernia

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Pathways for genes affiliated with Congenital Diaphragmatic Hernia

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Compounds for genes affiliated with Congenital Diaphragmatic Hernia

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GO Terms for genes affiliated with Congenital Diaphragmatic Hernia

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Products for genes affiliated with Congenital Diaphragmatic Hernia

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Sources for Congenital Diaphragmatic Hernia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet