MCID: CNG015
MIFTS: 56

Congenital Diaphragmatic Hernia malady

Genetic diseases, Rare diseases, Gastrointestinal diseases, Respiratory diseases, Fetal diseases categories

Aliases & Classifications for Congenital Diaphragmatic Hernia

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Sources:
9Disease Ontology, 19GeneReviews, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 11DISEASES, 47Orphanet, 43Novoseek, 22GTR, 55SNOMED-CT, 27ICD9CM, 33MeSH, 60UMLS, 38NCIt, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet, 25ICD10
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Congenital Diaphragmatic Hernia, Aliases & Descriptions:

Name: Congenital Diaphragmatic Hernia 9 19 41 20 21 11 47
Congenital Diaphragmatic Defect 41 21
Hernia Diaphragmatic Congenital 43 22
Diaphragmatic Agenesia 41 47
Cdh 41 47
 
Unilateral Agenesis of Diaphragm 41
Agenesis of Hemidiaphragm 41
Diaphragmatic Hernia 9
Hernia Diaphragmatic 43


Classifications:



Characteristics (Orphanet epidemiological data):

47
congenital diaphragmatic hernia:
Inheritance: Multigenic/multifactorial,Not applicable; Prevalence: 1-5/10000 (Worldwide),1-5/10000 (Europe),1-5/10000 (Austria),1-5/10000 (Belgium),1-5/10000 (Croatia),1-5/10000 (Denmark),1-5/10000 (France),1-9/100000 (Germany),1-5/10000 (Hungary),1-5/10000 (Ireland),1-5/10000 (Italy),1-5/10000 (Malta),1-5/10000 (Netherlands),1-5/10000 (Norway),1-9/100000 (Poland),1-5/10000 (Portugal),1-9/100000 (Spain),1-5/10000 (Switzerland),1-5/10000 (United Kingdom),1-5/10000 (Ukraine); Age of onset: Neonatal; Age of death: early childhood


External Ids:

Disease Ontology9 DOID:3827
ICD9CM27 756.6
NCIt38 C34687
Orphanet47 2140
MESH via Orphanet34 C538080
ICD10 via Orphanet26 Q79.0
UMLS via Orphanet61 C0235833

Summaries for Congenital Diaphragmatic Hernia

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NIH Rare Diseases:41 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 based summary: Congenital Diaphragmatic Hernia, also known as congenital diaphragmatic defect, is related to diaphragmatic hernia 3 and respiratory failure, and has symptoms including congenital diaphragmatic hernia, congenital diaphragmatic hernia and multifactorial inheritance. An important gene associated with Congenital Diaphragmatic Hernia is ZFPM2 (zinc finger protein, FOG family member 2). The compound retinoic acid have been mentioned in the context of this disorder. Affiliated tissues include lung, heart and fetal lung, and related mouse phenotypes are vision/eye and normal.

Disease Ontology:9 A diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs.

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...

GeneReviews summary for cdh-ov

Related Diseases for Congenital Diaphragmatic Hernia

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Diseases in the Congenital Diaphragmatic Hernia family:

Diaphragmatic Hernia 3 Dih1-Related Congenital Diaphragmatic Hernia

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

(show top 50)    (show all 215)
idRelated DiseaseScoreTop Affiliating Genes
1diaphragmatic hernia 330.5ZFPM2
2respiratory failure30.4AQP5, NKX2-1
3teratoma30.1GATA6, NKX2-1
4tetralogy of fallot30.1ZFPM2, GATA6
5pulmonary hypertension10.8
6esophagitis10.8
7esophageal atresia10.7
8fryns syndrome10.6
9omphalocele10.6
10hepatitis10.5
11thyroiditis10.5
12tracheoesophageal fistula10.5
13endotheliitis10.5
14wolf-hirschhorn syndrome10.5
15diaphragmatic eventration10.5
16gastroschisis10.5
17pulmonary sequestration10.5
18dandy-walker malformation with nasopharyngeal teratoma and diaphragmatic hernia10.5
19microphthalmia10.4
20gastric dilatation10.4
21gastroesophageal reflux10.4
22polyhydramnios10.4
23wandering spleen10.4
24dih1-related congenital diaphragmatic hernia10.4
25hydrocephaly corpus callosum agenesis diaphragmatic hernia10.4
26donnai-barrow syndrome10.3
27coffin-siris syndrome10.3
28denys-drash syndrome10.3
29meacham syndrome10.3
30pallister-killian syndrome10.3
31emanuel syndrome10.3
32microphthalmia, syndromic 710.3
33focal dermal hypoplasia10.3
34vacterl association10.3
35craniofrontonasal dysplasia10.3
36deficiency anemia10.3
37pulmonary immaturity10.3
38iron deficiency anemia10.3
39cornelia de lange syndrome10.3
40duodenitis10.3
41hypertrophic pyloric stenosis10.3
42cerebritis10.3
43patent ductus arteriosus10.3
44simpson-golabi-behmel syndrome10.3
45intestinal obstruction10.3
46pneumothorax10.3
47pyloric stenosis10.3
48ehlers-danlos syndrome classical type10.3
4915q24 microdeletion syndrome10.3
50esophageal atresia/tracheoesophageal fistula10.3

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



Diseases related to congenital diaphragmatic hernia

Symptoms for Congenital Diaphragmatic Hernia

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Symptoms:

 47
  • diaphragmatic hernia/defect/agenesis

HPO human phenotypes related to Congenital Diaphragmatic Hernia:

id Description Frequency HPO Source Accession
1 congenital diaphragmatic hernia hallmark (90%) HP:0000776
2 congenital diaphragmatic hernia HP:0000776
3 multifactorial inheritance HP:0001426

Drugs & Therapeutics for Congenital Diaphragmatic Hernia

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Drug clinical trials:

Search ClinicalTrials for Congenital Diaphragmatic Hernia

Search NIH Clinical Center for Congenital Diaphragmatic Hernia

Genetic Tests for Congenital Diaphragmatic Hernia

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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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MalaCards organs/tissues related to Congenital Diaphragmatic Hernia:

31
Lung, Heart, Fetal lung, Liver, Thyroid, Endothelial, Kidney, Spleen, Testes, Bone, Thymus, Brain, Smooth muscle, Small intestine, Skin, Neutrophil

Animal Models for Congenital Diaphragmatic Hernia or affiliated genes

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Publications for Congenital Diaphragmatic Hernia

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Articles related to Congenital Diaphragmatic Hernia:

(show top 50)    (show all 632)
idTitleAuthorsYear
1
Short-Term Outcomes and Medical and Surgical Interventions in Infants with Congenital Diaphragmatic Hernia. (25825963)
2015
2
Improved mortality rate for congenital diaphragmatic hernia in the modern era of management: 15year experience in a single institution. (25840055)
2015
3
Neurodevelopmental outcome at one year of age in congenital diaphragmatic hernia infants not treated with extracorporeal membrane oxygenation. (25818204)
2015
4
Full thickness abdominal wall defect in growing rats as a model for congenital diaphragmatic hernia prosthetic repair. (25280646)
2014
5
A 22-Week-Old Fetus with Nager Syndrome and Congenital Diaphragmatic Hernia due to a Novel SF3B4 Mutation. (25337072)
2014
6
Expanded intrathoracic space in fetal cases of isolated congenital diaphragmatic hernia contributes to disparity between percent predicted lung volume and observed to expected total lung volume. (25297651)
2014
7
Liquid ventilation in congenital diaphragmatic hernia: back on stage?*. (25370065)
2014
8
The correlation between the observed-to-expected total fetal lung volume and intra-thoracic organ herniation on magnetic resonance images in fetuses with isolated left-sided congenital diaphragmatic hernia. (25331381)
2014
9
Atypical presentation of congenital diaphragmatic hernia. (25378787)
2014
10
Splenic torsion after congenital diaphragmatic hernia repair: case report and review of the literature. (23480945)
2013
11
Fetal production of growth factors and inflammatory mediators predicts pulmonary hypertension in congenital diaphragmatic hernia. (23770923)
2013
12
Minimally invasive surgery in infants with congenital diaphragmatic hernia: outcome and selection criteria. (23908966)
2013
13
Cord blood endothelial colony-forming cells from newborns with congenital diaphragmatic hernia. (23684109)
2013
14
Decreased apelin and apelin-receptor expression in the pulmonary vasculature of nitrofen-induced congenital diaphragmatic hernia. (24363088)
2013
15
Long-term maturation of congenital diaphragmatic hernia treatment results: toward development of a severity-specific treatment algorithm. (23989050)
2013
16
Pulmonary support on day 30 as a predictor of morbidity and mortality in congenital diaphragmatic hernia. (23845605)
2013
17
Enteric Nervous System and Esophageal-Gastrointestinal Motility in Experimental Congenital Diaphragmatic Hernia. (23686664)
2013
18
Late-presenting congenital diaphragmatic hernia in children: the experience of single institution in Korea. (23918563)
2013
19
Advances in prenatal diagnosis and treatment of congenital diaphragmatic hernia. (22682380)
2012
20
Influence of gender on mortality and need for extracorporeal membrane oxygenation in neonates with congenital diaphragmatic hernia. (22523303)
2012
21
Congenital diaphragmatic hernia. (23114974)
2012
22
Stabilisation of cardiopulmonary function in newborns with congenital diaphragmatic hernia using lung function parameters and hemodynamic management. (22782443)
2012
23
Recent advances in the management of congenital diaphragmatic hernia. (22491491)
2012
24
Terlipressin as rescue therapy for refractory pulmonary hypertension in a neonate with a congenital diaphragmatic hernia. (21292065)
2011
25
Pulmonary development considerations in the surgical management of congenital diaphragmatic hernia. (21920679)
2011
26
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
27
Echocardiographic measures of ventricular function and pulmonary artery size: prognostic markers of congenital diaphragmatic hernia? (21311494)
2011
28
Intravesical pressure: A new prognostic indicator in congenital diaphragmatic hernia. (22121309)
2011
29
Influence of fetal stabilization on postnatal status of patients with congenital diaphragmatic hernia. (20842386)
2011
30
Evaluation of esophageal motility and reflux in children treated for congenital diaphragmatic hernia with the use of combined multichannel intraluminal impedance and pH monitoring. (22008321)
2011
31
Neurodevelopmental and neurofunctional outcomes in children with congenital diaphragmatic hernia. (21640525)
2011
32
Bronchopulmonary innervation defects in infants and rats with congenital diaphragmatic hernia. (20152352)
2010
33
Learning curve for lung area to head circumference ratio measurement in fetuses with congenital diaphragmatic hernia. (20131334)
2010
34
Mortality in infants with congenital diaphragmatic hernia: a study of the United States National Database. (20147959)
2010
35
Adrenal insufficiency in newborns with congenital diaphragmatic hernia. (20056240)
2010
36
Congenital diaphragmatic hernia in Lowe syndrome: a rare association? (20823704)
2010
37
Management of prenatally diagnosed congenital diaphragmatic hernia. (19884051)
2010
38
Thoracoscopic treatment of chylothorax after patch repair of congenital diaphragmatic hernia. (20713234)
2010
39
Perforated ulcer mimicking a spontaneous pneumothorax in a patient with congenital diaphragmatic hernia. (19385305)
2009
40
Tracheal occlusion for fetal congenital diaphragmatic hernia: the US experience. (19559324)
2009
41
Congenital diaphragmatic hernia: outcome review of 2,173 surgical repairs in US infants. (19727769)
2009
42
Pleural and pericardial effusion: a potential ultrasonographic marker for the prenatal differential diagnosis between congenital diaphragmatic eventration and congenital diaphragmatic hernia. (17366518)
2007
43
Pulmonary hypertension in human newborns with congenital diaphragmatic hernia is associated with decreased vascular expression of nitric-oxide synthase. (16456243)
2006
44
Congenital diaphragmatic hernia associated with esophageal atresia, tracheoesophageal fistula, and truncus arteriosus in a premature newborn. (15933889)
2005
45
Congenital diaphragmatic hernia: is 15q26.1-26.2 a candidate locus? (15057983)
2004
46
Upregulated expression of EGF and TGF-alpha in the proximal respiratory epithelium in the human hypoplastic lung in congenital diaphragmatic hernia. (14714133)
2004
47
Antenatal dexamethasone enhances endothelin-1 synthesis and gene expression in the heart in congenital diaphragmatic hernia in rats. (12407540)
2002
48
Wandering spleen presenting as duodenal obstruction after repair of congenital diaphragmatic hernia. (9434030)
1997
49
Coexisting left congenital diaphragmatic hernia and esophageal atresia with tracheoesophageal fistula: successful management in a premature neonate. (8811578)
1996
50
Pathophysiology of congenital diaphragmatic hernia: I. Renal enlargement suggests feedback modulation by pulmonary derived renotropins--a unifying hypothesis to explain pulmonary hypoplasia, polyhydramnios, and renal enlargement in the fetus/newborn with congenital diaphragmatic hernia. (2191107)
1990

Variations for Congenital Diaphragmatic Hernia

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Clinvar genetic disease variations for Congenital Diaphragmatic Hernia:

6
id Gene Variation Type Significance SNP ID Assembly Location
1ZFPM2NM_012082.3(ZFPM2): c.334C> T (p.Arg112Ter)single nucleotide variantPathogenicrs121908602GRCh37Chr 8, 106573623: 106573623
2ZFPM2NM_012082.3(ZFPM2): c.2107A> C (p.Met703Leu)single nucleotide variantPathogenicrs121908603GRCh37Chr 8, 106814417: 106814417
3ZFPM2NM_012082.3(ZFPM2): c.2527A> G (p.Thr843Ala)single nucleotide variantPathogenicrs121908604GRCh37Chr 8, 106814837: 106814837

Expression for genes affiliated with Congenital Diaphragmatic Hernia

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Search GEO for disease gene expression data for Congenital Diaphragmatic Hernia.

Pathways for genes affiliated with Congenital Diaphragmatic Hernia

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Compounds for genes affiliated with Congenital Diaphragmatic Hernia

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Sources:
43Novoseek, 24HMDB
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Compounds related to Congenital Diaphragmatic Hernia according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1retinoic acid43 249.3GATA6, NR2F2, NKX2-1, CYP26A1

GO Terms for genes affiliated with Congenital Diaphragmatic Hernia

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Biological processes related to Congenital Diaphragmatic Hernia according to GeneCards Suite gene sharing:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1outflow tract septum morphogenesisGO:000314810.1ZFPM2, GATA6
2ventricular septum morphogenesisGO:00604129.9ZFPM2, FGFRL1
3Clara cell differentiationGO:00604869.8NKX2-1, GATA6
4lung saccule developmentGO:00604309.8NKX2-1, GATA6
5Type II pneumocyte differentiationGO:00605109.8NKX2-1, GATA6
6liver developmentGO:00018899.7HLX, GATA6
7lung developmentGO:00303249.5ZFPM2, NKX2-1
8skeletal muscle tissue developmentGO:00075199.3NR2F2, HLX
9negative regulation of transcription, DNA-templatedGO:00458929.2GATA6, NR2F2, ZFPM2
10forebrain developmentGO:00309009.1NR2F2, NKX2-1
11neuron migrationGO:00017649.0NKX2-1, NR2F2
12anterior/posterior pattern specificationGO:00099528.9CYP26A1, NR2F2
13negative regulation of transcription from RNA polymerase II promoterGO:00001228.7GATA6, NR2F2, NKX2-1, ZFPM2

Molecular functions related to Congenital Diaphragmatic Hernia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activityGO:00037059.3GATA6, NKX2-1
2retinoic acid bindingGO:00019729.2NR2F2, CYP26A1
3sequence-specific DNA bindingGO:00435658.5NR2F2, NKX2-1, HLX
4sequence-specific DNA binding transcription factor activityGO:00037008.1HLX, NKX2-1, NR2F2, GATA6

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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet