CDH
MCID: CNG015
MIFTS: 58

Congenital Diaphragmatic Hernia (CDH) malady

Genetic diseases, Rare diseases, Gastrointestinal diseases, Muscle diseases, Ear diseases, Endocrine diseases, Respiratory diseases, Fetal diseases categories

Summaries for Congenital Diaphragmatic Hernia

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22Genetics Home Reference, 44NIH Rare Diseases, 66Wikipedia, 48OMIM, 20GeneReviews, 34MalaCards
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NIH Rare Diseases:44 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 TCTE3 (t-complex-associated-testis-expressed 3). Affiliated tissues include lung, heart and thyroid, and related mouse phenotypes are hearing/vestibular/ear and vision/eye.

Genetics Home Reference:22 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:66 Congenital diaphragmatic hernia (CDH) is a congenital malformation (birth defect) of the diaphragm. The... more...

Description from OMIM:48 610187

GeneReviews summary for cdh-ov

Aliases & Classifications for Congenital Diaphragmatic Hernia

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9Disease Ontology, 20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 11DISEASES, 46Novoseek, 63UMLS, 59SNOMED-CT, 36MeSH, 41NCIt, 48OMIM, 26ICD10
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Related Diseases for Congenital Diaphragmatic Hernia

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18GeneCards, 19GeneDecks
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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 205)
idRelated DiseaseScoreTop Affiliating Genes
1respiratory failure30.2NKX2-1, AQP5
2hypertension10.8
3esophagitis10.8
4esophageal atresia10.7
5diaphragmatic hernia 310.7
6fryns syndrome10.6
7donnai-barrow syndrome10.5
8diaphragmatic eventration10.5
9hepatitis10.5
10thyroiditis10.5
11tracheoesophageal fistula10.5
12endotheliitis10.5
13polyhydramnios10.5
14wolf-hirschhorn syndrome10.5
15gastroschisis10.5
16microphthalmia10.4
17gastric dilatation10.4
18dandy-walker malformation with nasopharyngeal teratoma and diaphragmatic hernia10.4
19wandering spleen10.4
20omphalocele10.4
21deficiency anemia10.3
22pulmonary immaturity10.3
23iron deficiency anemia10.3
24duodenitis10.3
25hypertrophic pyloric stenosis10.3
26craniofrontonasal syndrome10.3
27cerebritis10.3
28intestinal obstruction10.3
29pneumothorax10.3
30pyloric stenosis10.3
31esophageal atresia/tracheoesophageal fistula10.3
32pulmonary sequestration10.3
33spontaneous pneumothorax10.3
34dih1-related congenital diaphragmatic hernia10.3
35nasopharyngitis10.3
36dysostosis10.3
37hydrocephaly corpus callosum agenesis diaphragmatic hernia10.3
38nasopharyngeal teratoma10.3
39craniofacial deafness hand syndrome10.2
40coffin-siris syndrome10.2
41matthew-wood syndrome10.2
42focal dermal hypoplasia10.2
43beckwith-wiedemann syndrome10.2
44spondylocostal dysostosis10.2
45diaphragmatic hernia exomphalos corpus callosum agenesis10.2
46diaphragmatic hernia upper limb defects10.2
47gershoni-baruch syndrome10.2
48horseshoe kidney10.2
49iniencephaly10.2
50multiple pterygium syndrome lethal type10.2

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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48OMIM
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Clinical features from OMIM:

610187

Drugs & Therapeutics for Congenital Diaphragmatic Hernia

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Congenital Diaphragmatic Hernia

Search CenterWatch for Congenital Diaphragmatic Hernia

Genetic Tests for Congenital Diaphragmatic Hernia

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21GeneTests, 23GTR
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Genetic tests related to Congenital Diaphragmatic Hernia:

id Genetic test Affiliating Genes
1 Congenital Diaphragmatic Hernia21 23

Anatomical Context for Congenital Diaphragmatic Hernia

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34MalaCards
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MalaCards organs/tissues related to Congenital Diaphragmatic Hernia:

34
Lung, Heart, Thyroid, Liver, Fetal lung, Endothelial, Kidney, Spleen, Testes, Bone, Thymus, Smooth muscle, Brain, Small intestine, Skin

Animal Models for Congenital Diaphragmatic Hernia or affiliated genes

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38MGI
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Publications for Congenital Diaphragmatic Hernia

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53PubMed
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Articles related to Congenital Diaphragmatic Hernia:

(show top 50)    (show all 583)
idTitleAuthorsYear
1
Splenic torsion after congenital diaphragmatic hernia repair: case report and review of the literature. (23480945)
2013
2
Fetal production of growth factors and inflammatory mediators predicts pulmonary hypertension in congenital diaphragmatic hernia. (23770923)
2013
3
Minimally invasive surgery in infants with congenital diaphragmatic hernia: outcome and selection criteria. (23908966)
2013
4
Cord blood endothelial colony-forming cells from newborns with congenital diaphragmatic hernia. (23684109)
2013
5
Decreased apelin and apelin-receptor expression in the pulmonary vasculature of nitrofen-induced congenital diaphragmatic hernia. (24363088)
2013
6
Long-term maturation of congenital diaphragmatic hernia treatment results: toward development of a severity-specific treatment algorithm. (23989050)
2013
7
Pulmonary support on day 30 as a predictor of morbidity and mortality in congenital diaphragmatic hernia. (23845605)
2013
8
Enteric Nervous System and Esophageal-Gastrointestinal Motility in Experimental Congenital Diaphragmatic Hernia. (23686664)
2013
9
Late-presenting congenital diaphragmatic hernia in children: the experience of single institution in Korea. (23918563)
2013
10
Hearing loss in congenital diaphragmatic hernia (CDH) survivors: is it as prevalent as we think? (23701764)
2013
11
Antenatally diagnosed congenital diaphragmatic hernia in Singapore: a five-year series. (24005449)
2013
12
Advances in prenatal diagnosis and treatment of congenital diaphragmatic hernia. (22682380)
2012
13
Influence of gender on mortality and need for extracorporeal membrane oxygenation in neonates with congenital diaphragmatic hernia. (22523303)
2012
14
Congenital diaphragmatic hernia. (23114974)
2012
15
Stabilisation of cardiopulmonary function in newborns with congenital diaphragmatic hernia using lung function parameters and hemodynamic management. (22782443)
2012
16
Recent advances in the management of congenital diaphragmatic hernia. (22491491)
2012
17
Defect-diaphragmatic ratio: a new parameter for assessment of defect size in neonates with congenital diaphragmatic hernia. (22752200)
2012
18
Terlipressin as rescue therapy for refractory pulmonary hypertension in a neonate with a congenital diaphragmatic hernia. (21292065)
2011
19
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
20
Echocardiographic measures of ventricular function and pulmonary artery size: prognostic markers of congenital diaphragmatic hernia? (21311494)
2011
21
Intravesical pressure: A new prognostic indicator in congenital diaphragmatic hernia. (22121309)
2011
22
Influence of fetal stabilization on postnatal status of patients with congenital diaphragmatic hernia. (20842386)
2011
23
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
24
Neurodevelopmental and neurofunctional outcomes in children with congenital diaphragmatic hernia. (21640525)
2011
25
Congenital diaphragmatic hernia: still a moving target. (21463974)
2011
26
Congenital diaphragmatic hernia in Smith-Magenis syndrome: a possible locus at chromosome 17p11.2. (21965155)
2011
27
Bronchopulmonary innervation defects in infants and rats with congenital diaphragmatic hernia. (20152352)
2010
28
Learning curve for lung area to head circumference ratio measurement in fetuses with congenital diaphragmatic hernia. (20131334)
2010
29
Mortality in infants with congenital diaphragmatic hernia: a study of the United States National Database. (20147959)
2010
30
Adrenal insufficiency in newborns with congenital diaphragmatic hernia. (20056240)
2010
31
Congenital diaphragmatic hernia in Lowe syndrome: a rare association? (20823704)
2010
32
Management of prenatally diagnosed congenital diaphragmatic hernia. (19884051)
2010
33
Thoracoscopic treatment of chylothorax after patch repair of congenital diaphragmatic hernia. (20713234)
2010
34
Is there a role for antioxidants in prevention of pulmonary hypoplasia in nitrofen-induced rat model of congenital diaphragmatic hernia? (20127338)
2010
35
Timing of delivery for pregnancies with congenital diaphragmatic hernia. (21125710)
2010
36
Perforated ulcer mimicking a spontaneous pneumothorax in a patient with congenital diaphragmatic hernia. (19385305)
2009
37
Tracheal occlusion for fetal congenital diaphragmatic hernia: the US experience. (19559324)
2009
38
Congenital diaphragmatic hernia: outcome review of 2,173 surgical repairs in US infants. (19727769)
2009
39
Thoracoscopic repair of congenital diaphragmatic hernia in neonates: lessons learned. (19670981)
2009
40
Pleural and pericardial effusion: a potential ultrasonographic marker for the prenatal differential diagnosis between congenital diaphragmatic eventration and congenital diaphragmatic hernia. (17366518)
2007
41
Pulmonary hypertension in human newborns with congenital diaphragmatic hernia is associated with decreased vascular expression of nitric-oxide synthase. (16456243)
2006
42
Congenital diaphragmatic hernia associated with esophageal atresia, tracheoesophageal fistula, and truncus arteriosus in a premature newborn. (15933889)
2005
43
Congenital diaphragmatic hernia in a patient with tetrasomy 9p. (16226972)
2005
44
Congenital diaphragmatic hernia: is 15q26.1-26.2 a candidate locus? (15057983)
2004
45
Upregulated expression of EGF and TGF-alpha in the proximal respiratory epithelium in the human hypoplastic lung in congenital diaphragmatic hernia. (14714133)
2004
46
Left diaphragmatic eventration diagnosed as congenital diaphragmatic hernia by prenatal sonography. (12692831)
2003
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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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Congenital Diaphragmatic Hernia:

1
id Gene Name Type Significance SNP ID Assembly Location
1PAX3NM_181457.3(PAX3): c.141C> G (p.Asn47Lys)single nucleotide variantPathogenicrs104893652GRCh37Chr 2, 223161877: 223161877

Expression for genes affiliated with Congenital Diaphragmatic Hernia

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2BioGPS, 16Gene 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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17Gene Ontology
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Biological processes related to Congenital Diaphragmatic Hernia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1skeletal muscle tissue developmentGO:0075199.3NR2F2, HLX
2anterior/posterior pattern specificationGO:0099529.2NR2F2, CYP26A1
3neuron migrationGO:0017649.1NR2F2, NKX2-1
4forebrain developmentGO:0309009.0NR2F2, NKX2-1

Molecular functions related to Congenital Diaphragmatic Hernia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1retinoic acid bindingGO:0019729.2NR2F2, CYP26A1
2sequence-specific DNA bindingGO:0435658.5NR2F2, NKX2-1, HLX

Products for genes affiliated with Congenital Diaphragmatic Hernia

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Sources for Congenital Diaphragmatic Hernia

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet