CDH
MCID: CNG015
MIFTS: 59

Congenital Diaphragmatic Hernia (CDH) malady

Genetic diseases, Rare diseases, Gastrointestinal diseases, Muscle diseases, Endocrine diseases, Respiratory diseases, Fetal diseases categories
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Summaries for Congenital Diaphragmatic Hernia

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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 based summary: 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: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:65 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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Congenital Diaphragmatic Hernia, Aliases & Descriptions:

Name: Congenital Diaphragmatic Hernia 8 19 42 20 22 21 10
Congenital Diaphragmatic Defect 42 21
Thyroid Hormone Plasma Membrane Transport Defect 62
Unilateral Agenesis of Diaphragm 42
Hernia Diaphragmatic Congenital 44
 
Agenesis of Hemidiaphragm 42
Diaphragmatic Hernia 8
Hernia Diaphragmatic 44
Cdhs 62
Cdh 42


Classifications:



Related Diseases for Congenital Diaphragmatic Hernia

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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 212)
idRelated DiseaseScoreTop Affiliating Genes
1respiratory failure30.0NKX2-1, AQP5
2hypertension10.8
3pulmonary hypertension10.8
4esophagitis10.8
5esophageal atresia10.7
6diaphragmatic hernia 310.7
7donnai-barrow syndrome10.6
8fryns syndrome10.6
9hepatitis10.5
10diaphragmatic eventration10.5
11thyroiditis10.5
12tracheoesophageal fistula10.5
13endotheliitis10.5
14wolf-hirschhorn syndrome10.5
15polyhydramnios10.5
16gastroschisis10.5
17pulmonary sequestration10.5
18omphalocele10.5
19microphthalmia10.4
20gastric dilatation10.4
21dandy-walker malformation with nasopharyngeal teratoma and diaphragmatic hernia10.4
22wandering spleen10.4
23deficiency anemia10.3
24craniofrontonasal syndrome10.3
25pulmonary immaturity10.3
26iron deficiency anemia10.3
27hypertrophic pyloric stenosis10.3
28duodenitis10.3
29cerebritis10.3
30intestinal obstruction10.3
31pneumothorax10.3
32pyloric stenosis10.3
33esophageal atresia/tracheoesophageal fistula10.3
34spontaneous pneumothorax10.3
35dih1-related congenital diaphragmatic hernia10.3
36abdominal wall defect10.3
37nasopharyngitis10.3
38dysostosis10.3
39diaphragmatic hernia exomphalos corpus callosum agenesis10.3
40gershoni-baruch syndrome10.3
41hydrocephaly corpus callosum agenesis diaphragmatic hernia10.3
42nasopharyngeal teratoma10.3
43craniofacial deafness hand syndrome10.3
44beckwith-wiedemann syndrome10.2
45focal dermal hypoplasia10.2
46coffin-siris syndrome10.2
47matthew-wood syndrome10.2
48spondylocostal dysostosis10.2
49agenesis of the corpus callosum10.2
50chromosome 8p23.1 deletion10.2

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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Clinical features from OMIM:

610187

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:

32
Lung, Heart, Thyroid, Fetal lung, Liver, Endothelial, Kidney, Spleen, Bone, Testes, 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 609)
idTitleAuthorsYear
1
Full thickness abdominal wall defect in growing rats as a model for congenital diaphragmatic hernia prosthetic repair. (25280646)
2014
2
A 22-Week-Old Fetus with Nager Syndrome and Congenital Diaphragmatic Hernia due to a Novel SF3B4 Mutation. (25337072)
2014
3
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
4
Liquid ventilation in congenital diaphragmatic hernia: back on stage?*. (25370065)
2014
5
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
6
Atypical presentation of congenital diaphragmatic hernia. (25378787)
2014
7
Splenic torsion after congenital diaphragmatic hernia repair: case report and review of the literature. (23480945)
2013
8
Fetal production of growth factors and inflammatory mediators predicts pulmonary hypertension in congenital diaphragmatic hernia. (23770923)
2013
9
Minimally invasive surgery in infants with congenital diaphragmatic hernia: outcome and selection criteria. (23908966)
2013
10
Cord blood endothelial colony-forming cells from newborns with congenital diaphragmatic hernia. (23684109)
2013
11
Decreased apelin and apelin-receptor expression in the pulmonary vasculature of nitrofen-induced congenital diaphragmatic hernia. (24363088)
2013
12
Long-term maturation of congenital diaphragmatic hernia treatment results: toward development of a severity-specific treatment algorithm. (23989050)
2013
13
Pulmonary support on day 30 as a predictor of morbidity and mortality in congenital diaphragmatic hernia. (23845605)
2013
14
Enteric Nervous System and Esophageal-Gastrointestinal Motility in Experimental Congenital Diaphragmatic Hernia. (23686664)
2013
15
Late-presenting congenital diaphragmatic hernia in children: the experience of single institution in Korea. (23918563)
2013
16
Hearing loss in congenital diaphragmatic hernia (CDH) survivors: is it as prevalent as we think? (23701764)
2013
17
Advances in prenatal diagnosis and treatment of congenital diaphragmatic hernia. (22682380)
2012
18
Influence of gender on mortality and need for extracorporeal membrane oxygenation in neonates with congenital diaphragmatic hernia. (22523303)
2012
19
Congenital diaphragmatic hernia. (23114974)
2012
20
Stabilisation of cardiopulmonary function in newborns with congenital diaphragmatic hernia using lung function parameters and hemodynamic management. (22782443)
2012
21
Recent advances in the management of congenital diaphragmatic hernia. (22491491)
2012
22
Terlipressin as rescue therapy for refractory pulmonary hypertension in a neonate with a congenital diaphragmatic hernia. (21292065)
2011
23
Pulmonary development considerations in the surgical management of congenital diaphragmatic hernia. (21920679)
2011
24
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
25
Echocardiographic measures of ventricular function and pulmonary artery size: prognostic markers of congenital diaphragmatic hernia? (21311494)
2011
26
Intravesical pressure: A new prognostic indicator in congenital diaphragmatic hernia. (22121309)
2011
27
Influence of fetal stabilization on postnatal status of patients with congenital diaphragmatic hernia. (20842386)
2011
28
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
29
Neurodevelopmental and neurofunctional outcomes in children with congenital diaphragmatic hernia. (21640525)
2011
30
Congenital diaphragmatic hernia: still a moving target. (21463974)
2011
31
Bronchopulmonary innervation defects in infants and rats with congenital diaphragmatic hernia. (20152352)
2010
32
Learning curve for lung area to head circumference ratio measurement in fetuses with congenital diaphragmatic hernia. (20131334)
2010
33
Mortality in infants with congenital diaphragmatic hernia: a study of the United States National Database. (20147959)
2010
34
Adrenal insufficiency in newborns with congenital diaphragmatic hernia. (20056240)
2010
35
Congenital diaphragmatic hernia in Lowe syndrome: a rare association? (20823704)
2010
36
Management of prenatally diagnosed congenital diaphragmatic hernia. (19884051)
2010
37
Thoracoscopic treatment of chylothorax after patch repair of congenital diaphragmatic hernia. (20713234)
2010
38
Perforated ulcer mimicking a spontaneous pneumothorax in a patient with congenital diaphragmatic hernia. (19385305)
2009
39
Tracheal occlusion for fetal congenital diaphragmatic hernia: the US experience. (19559324)
2009
40
Congenital diaphragmatic hernia: outcome review of 2,173 surgical repairs in US infants. (19727769)
2009
41
Thoracoscopic repair of congenital diaphragmatic hernia in neonates: lessons learned. (19670981)
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 in a patient with tetrasomy 9p. (16226972)
2005
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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Expression for genes affiliated with Congenital Diaphragmatic Hernia

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Expression patterns in normal tissues for genes affiliated with Congenital Diaphragmatic Hernia

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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GO Terms for genes affiliated with Congenital Diaphragmatic Hernia

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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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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet