CDH
MCID: CNG015
MIFTS: 52

Congenital Diaphragmatic Hernia (CDH) malady

Gastrointestinal, Ear, Endocrine categories

Summaries for Congenital Diaphragmatic Hernia

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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 esophageal atresia and diaphragmatic hernia 3. An important gene associated with Congenital Diaphragmatic Hernia is HCCS (holocytochrome c synthase). Affiliated tissues include skin, liver and brain, 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:64 Congenital diaphragmatic hernia (CDH) is a congenital malformation (birth defect) of the diaphragm. The... more...

Description from OMIM:47 610187

GeneReviews summary for cdh-ov

Aliases & Classifications for Congenital Diaphragmatic Hernia

Sources:
8Disease Ontology, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 45Novoseek, 61UMLS, 57SNOMED-CT, 47OMIM, 35MeSH, 40NCIt, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Gastrointestinal, Ear, Endocrine


Aliases & Descriptions:

congenital diaphragmatic hernia 8 19 43 20 22 21 10
congenital diaphragmatic defect 43 21
thyroid hormone plasma membrane transport defect 61
congenital deafness with inner ear agenesis 19
microtia,microdontia; lamm syndrome 19
craniofacial deafness hand syndrome 61
unilateral agenesis of diaphragm 43
hernia diaphragmatic congenital 45
agenesis of hemidiaphragm 43
diaphragmatic hernia 8
hernia diaphragmatic 45
cdh 43


Related Diseases for Congenital Diaphragmatic Hernia

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

diaphragmatic hernia 3 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 240)
idRelated DiseaseScoreTop Affiliating Genes
1esophageal atresia10.7
2diaphragmatic hernia 310.7
3thyroid hormone plasma membrane transport defect10.6
4hernia, congenital diaphragmatic 110.6
5fryns syndrome10.6
6chylothorax, congenital10.6
7congenital deafness with labyrinthine aplasia, microtia, and microdontia10.5
8donnai-barrow syndrome10.5
9diaphragmatic eventration10.5
10esophageal atresia/tracheoesophageal fistula10.5
11tracheoesophageal fistula10.5
12wolf-hirschhorn syndrome10.5
13gastroschisis10.5
14polyhydramnios10.5
15micro syndrome10.5
16wolf–hirschhorn syndrome10.5
17patent foramen ovale10.4
18glanzmann's thrombasthenia10.4
19takayasu's arteritis10.4
20atrioventricular septal defect10.4
21atrial heart septal defect10.4
22urea cycle disorder10.4
23hereditary folate malabsorption10.4
24zap70-related severe combined immunodeficiency10.4
25acro-pectoro-renal field defect10.4
26ankle defects short stature10.4
27branchial arch defects10.4
28cardioskeletal syndrome kuwaiti type10.4
29sacral defect with anterior meningocele10.4
30caudal regression syndrome10.4
31chylomicron retention disease10.4
32x-linked creatine deficiency10.4
33cystinosis, ocular nonnephropathic10.4
34hmg coa lyase deficiency10.4
35imerslund-grasbeck syndrome10.4
36defective apolipoprotein b-10010.4
37peroxisome disorders10.4
38heart defect, tongue hamartoma and polysyndactyly10.4
39hermansky pudlak syndrome 210.4
40heterotaxy10.4
41red cell phospholipid defect with hemolysis10.4
42hyperthermia induced defects10.4
43lateral body wall defect10.4
44laterality defects dominant10.4
45overgrowth radial ray defect arthrogryposis10.4
46paraomphalocele10.4
47reductional transverse limb defects10.4
48renal agenesis meningomyelocele mullerian defect10.4
49trigonomacrocephaly tibial defect polydactyly10.4
50thyroid hormonogenesis defect i10.4

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



Diseases related to congenital diaphragmatic hernia

Clinical Features for Congenital Diaphragmatic Hernia

Sources:
47OMIM
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Clinical features from OMIM:

610187

Drugs & Therapeutics for Congenital Diaphragmatic Hernia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

Sources:
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

Sources:
33MalaCards
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MalaCards organs/tissues related to Congenital Diaphragmatic Hernia:

33
Skin, Liver, Brain, Kidney, Lung, Spleen, Whole blood, Thymus, Heart, Smooth muscle, Small intestine, Thyroid, T cells, B cells, Endothelial, Fetal brain, Fetal liver, Fetal lung, Fetal thyroid

Animal Models for Congenital Diaphragmatic Hernia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Congenital Diaphragmatic Hernia

Sources:
51PubMed
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Articles related to Congenital Diaphragmatic Hernia:

(show top 50)    (show all 599)
idTitleAuthorsYear
1
Minimally invasive surgery in infants with congenital diaphragmatic hernia: outcome and selection criteria. (23908966)
2013
2
Antenatally diagnosed congenital diaphragmatic hernia in Singapore: a five-year series. (24005449)
2013
3
Left Heart Structures in Human Neonates with Congenital Diaphragmatic Hernia and the Effect of Fetal Endoscopic Tracheal Occlusion. (24356206)
2013
4
The impact of chylothorax on neonates with repaired congenital diaphragmatic hernia. (23583125)
2013
5
Longitudinal neurodevelopmental and neuromotor outcome in congenital diaphragmatic hernia patients in the first 3 years of life. (23660581)
2013
6
The presence of a hernia sac in congenital diaphragmatic hernia is associated with better fetal lung growth and outcomes. (23845602)
2013
7
Octreotide for chylous effusions in congenital diaphragmatic hernia. (24210190)
2013
8
Congenital intrapericardial diaphragmatic hernia with omphalocele. (23661309)
2013
9
Downregulated bone morphogenetic protein signaling in nitrofen-induced congenital diaphragmatic hernia. (23832098)
2013
10
Sildenafil weaning after discharge in infants with congenital diaphragmatic hernia. (23877431)
2013
11
Influence of gender on mortality and need for extracorporeal membrane oxygenation in neonates with congenital diaphragmatic hernia. (22523303)
2012
12
Fatal Complication after Repair of a Congenital Diaphragmatic Hernia Associated with Hepatopulmonary Fusion, Anomalous Right Pulmonary Venous Return, and Azygos Continuation of the Inferior Vena Cava. (23093429)
2012
13
Prediction of survival in infants with congenital diaphragmatic hernia based on stomach position, surgical timing, and oxygenation index. (22399210)
2012
14
Follow-up of the survivors of congenital diaphragmatic hernia. (21945360)
2012
15
Severe iron deficiency anemia due to late presentation of congenital diaphragmatic hernia in a toddler. (24385737)
2012
16
Current management of congenital diaphragmatic hernia. (23348493)
2012
17
Prenatally diagnosed 17q12 microdeletion syndrome with a novel association with congenital diaphragmatic hernia. (22178801)
2012
18
Congenital diaphragmatic hernia in identical twins. (22279361)
2012
19
Influence of fetal stabilization on postnatal status of patients with congenital diaphragmatic hernia. (20842386)
2011
20
Physical activity, fitness, and dyspnea perception in children with congenital diaphragmatic hernia. (21520442)
2011
21
Free fascia lata repair for a second recurrent congenital diaphragmatic hernia. (21929999)
2011
22
Minimally invasive repair of congenital diaphragmatic hernia. (21683215)
2011
23
Antenatal sildenafil treatment attenuates pulmonary hypertension in experimental congenital diaphragmatic hernia. (21537000)
2011
24
Late gestation fetal magnetic resonance imaging-derived total lung volume predicts postnatal survival and need for extracorporeal membrane oxygenation support in isolated congenital diaphragmatic hernia. (21683216)
2011
25
Neurally adjusted ventilatory assist mode used in congenital diaphragmatic hernia. (22015130)
2011
26
Bronchopulmonary innervation defects in infants and rats with congenital diaphragmatic hernia. (20152352)
2010
27
Adrenal insufficiency in newborns with congenital diaphragmatic hernia. (20056240)
2010
28
Thoracoscopic treatment of chylothorax after patch repair of congenital diaphragmatic hernia. (20713234)
2010
29
Timing of delivery for pregnancies with congenital diaphragmatic hernia. (21125710)
2010
30
Respiratory distress associated with inadequate mechanical ventilator flow response in a neonate with congenital diaphragmatic hernia. (20196885)
2010
31
Significance and outcome of left heart hypoplasia in fetal congenital diaphragmatic hernia. (20143332)
2010
32
Neurodevelopmental outcome of infants with congenital diaphragmatic hernia prospectively enrolled in an interdisciplinary follow-up program. (20850617)
2010
33
Albumin as an adjunct to tracheal occlusion in fetal rats with congenital diaphragmatic hernia: a placebo-controlled study. (20035915)
2010
34
Combining keratinocyte growth factor transfection into the airways and tracheal occlusion in a fetal sheep model of congenital diaphragmatic hernia. (20440752)
2010
35
Lung volumes, ventricular function and pulmonary arterial flow in children operated on for left-sided congenital diaphragmatic hernia: long-term results. (20162285)
2010
36
Fetal cerebral blood flow velocities in congenital diaphragmatic hernia. (20521239)
2010
37
Prenatal pulmonary hypertension index: novel prenatal predictor of severe postnatal pulmonary artery hypertension in antenatally diagnosed congenital diaphragmatic hernia. (20385274)
2010
38
Left ventricular cardiac function in fetuses with congenital diaphragmatic hernia and the effect of fetal endoscopic tracheal occlusion. (19753655)
2009
39
Congenital diaphragmatic hernia in the adult. (20112629)
2009
40
Multivariate model for predicting recurrence in congenital diaphragmatic hernia. (19524735)
2009
41
Congenital diaphragmatic hernia: short-term outcome. (19603595)
2009
42
Psychological outcome and quality of life in children born with congenital diaphragmatic hernia. (19531530)
2009
43
Congenital diaphragmatic hernia in CHARGE syndrome. (17576576)
2008
44
Bilateral congenital diaphragmatic hernia and gastroschisis in a newborn: can low intrathoracic pressure prevent the pulmonary hypoplasia? (17216533)
2007
45
Congenital microgastria with esophageal stenosis and diaphragmatic hernia. (15645254)
2005
46
Congenital diaphragmatic hernia and chromosome 15q26: determination of a candidate region by use of fluorescent in situ hybridization and array-based comparative genomic hybridization. (15750894)
2005
47
Second-trimester diagnosis of complete trisomy 9 associated with abnormal maternal serum screen results, open sacral spina bifida and congenital diaphragmatic hernia, and review of the literature. (15229846)
2004
48
Congenital right diaphragmatic hernias through posterolateral and anterolateral defects associated with extralobar pulmonary sequestration: a case report. (9021582)
1997
49
Prenatal glucocorticoid therapy reverses pulmonary immaturity in congenital diaphragmatic hernia in fetal sheep. (8857848)
1996
50
Antenatal glucocorticoid corrects pulmonary immaturity in experimentally induced congenital diaphragmatic hernia in rats. (7520565)
1994

Genetic Variations for Congenital Diaphragmatic Hernia

Expression for genes affiliated with Congenital Diaphragmatic Hernia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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

Compounds for genes affiliated with Congenital Diaphragmatic Hernia

GO Terms for genes affiliated with Congenital Diaphragmatic Hernia

Products for genes affiliated with Congenital Diaphragmatic Hernia

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Sources for Congenital Diaphragmatic Hernia

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet