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, 44Novoseek, 60UMLS, 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
diaphragmatic hernia 8
hernia diaphragmatic 44
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:

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Drug clinical trials:

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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, Bone, Testes, Thymus, Brain, Skin, Smooth muscle, Small intestine

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:000538810.5SCGB1A1, NKX2-1, EFNB1, FGF18, FGFRL1, AQP5
2MP:000538110.4CYP26A1, FGF18, AQP5, NKX2-1, YIPF6, EFNB1
3MP:000539010.3EFNB1, CYP26A1, HOXB5, FGF18, FGFRL1, NKX2-1
4MP:000537810.3AQP5, YIPF6, 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
Pathogenesis of congenital diaphragmatic hernia: Additional clues regarding the involvement of the endothelin system. (24352915)
2014
2
Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia. (24385578)
2014
3
Cord blood endothelial colony-forming cells from newborns with congenital diaphragmatic hernia. (23684109)
2013
4
Functional residual capacity (FRC) and lung clearance index (LCI) in mechanically ventilated infants: application in the newborn with congenital diaphragmatic hernia (CDH). (23895954)
2013
5
Decreased pulmonary c-Cbl expression and tyrosine phosphorylation in the nitrofen-induced rat model of congenital diaphragmatic hernia. (23143077)
2013
6
Preschool neurological assessment in congenital diaphragmatic hernia survivors: outcome and perinatal factors associated with neurodevelopmental impairment. (23333410)
2013
7
Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice. (23221805)
2013
8
Periodic MRI lung volume assessment in fetuses with congenital diaphragmatic hernia: prediction of survival, need for ECMO, and development of chronic lung disease. (23883224)
2013
9
Fetal lung volume and quantification of liver herniation by magnetic resonance imaging in isolated congenital diaphragmatic hernia. (24127326)
2013
10
High Frequency Jet Ventilation during Initial Management, Stabilization, and Transport of Newborn Infants with Congenital Diaphragmatic Hernia: A Case Series. (23346391)
2013
11
Congenital diaphragmatic hernia with(out) ECMO: impaired development at 8 years. (23235994)
2013
12
Variants in GATA4 are a rare cause of familial and sporadic congenital diaphragmatic hernia. (23138528)
2013
13
Dietary vitamin A intake below the recommended daily intake during pregnancy and the risk of congenital diaphragmatic hernia in the offspring. (23283831)
2013
14
First 24-h SNAP-II score and highest PaCO2 predict the need for ECMO in congenital diaphragmatic hernia. (24210188)
2013
15
Antireflux surgery after congenital diaphragmatic hernia repair: a plea for a tailored approach. (23355689)
2013
16
Ectopic intrathoracic kidney with right-sided congenital diaphragmatic hernia. (23683747)
2013
17
Advances in prenatal diagnosis and treatment of congenital diaphragmatic hernia. (22682380)
2012
18
Stabilisation of cardiopulmonary function in newborns with congenital diaphragmatic hernia using lung function parameters and hemodynamic management. (22782443)
2012
19
Right- versus left-sided congenital diaphragmatic hernia: postnatal outcome at a specialized tertiary care center. (21478793)
2012
20
Birth region, race and sex may affect the prevalence of congenital diaphragmatic hernia, abdominal wall and neural tube defects among US newborns. (22282130)
2012
21
Right- versus left-sided congenital diaphragmatic hernia--can we trust the data?. (22222649)
2012
22
Nitrofen interferes with trophoblastic expression of retinol-binding protein and transthyretin during lung morphogenesis in the nitrofen-induced congenital diaphragmatic hernia model. (22015466)
2012
23
Antenatal management of isolated congenital diaphragmatic hernia today and tomorrow: ongoing collaborative research and development. Journal of Pediatric Surgery Lecture. (22325377)
2012
24
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
25
Expression of the Wilm's tumor gene WT1 during diaphragmatic development in the nitrofen model for congenital diaphragmatic hernia. (21072664)
2011
26
The Japanese experience with prenatally diagnosed congenital diaphragmatic hernia based on a multi-institutional review. (21113786)
2011
27
Right-sided congenital diaphragmatic hernia, hepatic pulmonary fusion, duodenal atresia, and imperforate anus in an infant. (21763847)
2011
28
Institutional practice and outcome variation in the management of congenital diaphragmatic hernia and gastroschisis in Canada: a report from the Canadian Pediatric Surgery Network. (21616230)
2011
29
Prenatal risk stratification for isolated congenital diaphragmatic hernia: results of a Japanese multicenter study. (22008320)
2011
30
Antenatal ultrasound prediction of pulmonary hypoplasia in congenital diaphragmatic hernia: correlation with pathology. (21520476)
2011
31
Postoperative regional distribution of pulmonary ventilation and perfusion in infants with congenital diaphragmatic hernia. (22075331)
2011
32
Adult congenital diaphragmatic hernia of the liver: a rare case report. (20596828)
2010
33
A rare case of congenital diaphragmatic hernia with ectopic liver and absent pericardium. (20417741)
2010
34
Congenital diaphragmatic hernia is a feature of Opitz G/BBB syndrome. (20823703)
2010
35
Physiological and clinical characteristics of gastroesophageal reflux after congenital diaphragmatic hernia repair. (21129542)
2010
36
Recurrent microdeletions of 15q25.2 are associated with increased risk of congenital diaphragmatic hernia, cognitive deficits and possibly Diamond--Blackfan anaemia. (20921022)
2010
37
Congenital diaphragmatic hernia: endothelin-1, pulmonary hypertension, and disease severity. (20413632)
2010
38
Tracheomegaly: a complication of fetal endoscopic tracheal occlusion in the treatment of congenital diaphragmatic hernia. (19894042)
2010
39
The effect of in vitro tracheal occlusion on branching morphogenesis in fetal lung explants from the rat nitrofen model of congenital diaphragmatic hernia. (20438932)
2010
40
Congenital diaphragmatic hernia after exposure to a triple retinoic acid antagonist during pregnancy. (21107276)
2010
41
Retinol status of newborn infants is associated with congenital diaphragmatic hernia. (20837596)
2010
42
Congenital diaphragmatic hernia: outcome review of 2,173 surgical repairs in US infants. (19727769)
2009
43
Changing perspectives on the perinatal management of isolated congenital diaphragmatic hernia in Europe. (19559323)
2009
44
Temporary banding of a lower tracheoesophageal fistula in an infant with left congenital diaphragmatic hernia and esophageal atresia. (19224439)
2009
45
Coexisting congenital diaphragmatic hernia, esophageal atresia, and tracheoesophageal fistula: a case report and review of the literature. (18828268)
2008
46
Pleural and pericardial effusion: a potential ultrasonographic marker for the prenatal differential diagnosis between congenital diaphragmatic eventration and congenital diaphragmatic hernia. (17366518)
2007
47
Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation. (17273977)
2007
48
Genetic polymorphisms of angiotensin system genes in congenital diaphragmatic hernia associated with persistent pulmonary hypertension. (15017542)
2004
49
Glucocorticoid receptor gene expression in the hypoplastic lung of newborns with congenital diaphragmatic hernia. (11987085)
2002
50
Upregulated tumor necrosis factor-alpha gene expression in the hypoplastic lung in patients with congenital diaphragmatic hernia. (9880689)
1998

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