MCID: CNG015
MIFTS: 63

Congenital Diaphragmatic Hernia malady

Categories: Genetic diseases, Rare diseases, Gastrointestinal diseases, Respiratory diseases, Fetal diseases, Muscle diseases, Ear diseases

Aliases & Classifications for Congenital Diaphragmatic Hernia

About this section
Sources:
10Disease Ontology, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 12DISEASES, 51Orphanet, 65UMLS, 47Novoseek, 24GTR, 36MeSH, 27ICD10, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Congenital Diaphragmatic Hernia:

Name: Congenital Diaphragmatic Hernia 10 21 45 22 23 12 51
Cdh 45 22 51
Congenital Diaphragmatic Defect 45 23
Hernia Diaphragmatic Congenital 47 24
Craniofacial Deafness Hand Syndrome 65
Unilateral Agenesis of Diaphragm 45
 
Agenesis of Hemidiaphragm 45
Diaphragmatic Agenesia 51
Hernia, Diaphragmatic 36
Hernia Diaphragmatic 47
Diaphragmatic Hernia 10

Characteristics:

Orphanet epidemiological data:

51
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

HPO:

61


Classifications:



External Ids:

Disease Ontology10 DOID:3827
MeSH36 D006548
NCIt42 C34687
Orphanet51 2140
ICD10 via Orphanet28 Q79.0
MESH via Orphanet37 C538080
UMLS via Orphanet66 C0235833
UMLS65 C0019284, C1852510

Summaries for Congenital Diaphragmatic Hernia

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NIH Rare Diseases:45 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 cdh, is related to congenital heart disease and esophageal atresia, and has symptoms including congenital diaphragmatic hernia, congenital diaphragmatic hernia and diaphragmatic hernia/defect/agenesis. An important gene associated with Congenital Diaphragmatic Hernia is ZFPM2 (Zinc Finger Protein, FOG Family Member 2), and among its related pathways are Heart Development and Glypican 3 network. Affiliated tissues include lung, heart and liver, and related mouse phenotypes are no phenotypic analysis and vision/eye.

Disease Ontology:10 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:23 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:68 Congenital diaphragmatic hernia (CDH) is a birth defect of the diaphragm. The most common type of CDH is... more...

GeneReviews summary for NBK1359

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 119)
idRelated DiseaseScoreTop Affiliating Genes
1congenital heart disease30.6GATA4, GATA6, ZFPM2
2esophageal atresia30.6ALDH1A2, EFNB1, FREM1, GATA4, NR2F2, ZFPM2
3heart disease29.7EDN1, FGF7, NOS3
4dih1-related congenital diaphragmatic hernia12.1
5hiatus hernia11.4
6craniofacial-deafness-hand syndrome11.3
7fryns syndrome10.8
8univentricular heart with single atrio-ventricular valve10.7GATA4, GATA6
9dysmorphism-short stature-deafness-disorder of sex development syndrome10.6GATA4, ZFPM2
10transverse limb deficiency hemangioma10.6GATA6, NR2F2, ZFPM2
11spindle cell variant squamous cell breast carcinoma10.5ELN, WT1
12pulmonary hypertension10.5
13partial deletion of y10.5GATA4, GATA6, NR2F2
14esophagitis10.5
15supratentorial cancer10.5GATA4, GATA6, ZFPM2
16surfactant metabolism dysfunction, pulmonary, 210.5GATA4, GATA6, ZFPM2
17uterine corpus serous adenocarcinoma10.4GATA4, GATA6
18progeria variant syndrome ruvalcaba type10.4EDN1, NOS3
19vitelliform macular dystrophy10.4EDN1, GATA4, GATA6
20endotheliitis10.3
21omphalocele10.2
22hepatitis10.2
23gastroschisis10.2
24thyroiditis10.2
25pulmonary sequestration10.2
26tracheoesophageal fistula10.2
27thrombocytopenia10.2EDN1, NOS3
28slowed nerve conduction velocity, ad10.2EDN1, GATA4, GATA6, ZFPM2
29wolf-hirschhorn syndrome10.2
30diaphragmatic eventration10.2
31polyhydramnios10.2
32lung disease10.2
33donnai-barrow syndrome10.1
34pulmonary hypertension, neonatal10.1
35diaphragmatic hernia 310.1
36coronary thrombosis10.1EDN1, NOS3
37gastroesophageal reflux10.1
38intestinal obstruction10.1
39transposition of the great arteries10.1
40wandering spleen10.1
41deficiency anemia10.0
42iron deficiency anemia10.0
43hypertrophic pyloric stenosis10.0
44pyloric stenosis10.0
45patent ductus arteriosus10.0
46pneumothorax10.0
47cerebritis10.0
48pulmonary immaturity10.0
49duodenitis10.0
50esophageal atresia/tracheoesophageal fistula10.0

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



Diseases related to congenital diaphragmatic hernia

Symptoms for Congenital Diaphragmatic Hernia

About this section

Symptoms:

 51
  • 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

Drugs & Therapeutics for Congenital Diaphragmatic Hernia

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Drugs for Congenital Diaphragmatic Hernia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 32)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Nitric OxideapprovedPhase 456410102-43-9145068
Synonyms:
(.)NO
(NO)(.)
10102-43-9
14332-28-6
295566_ALDRICH
51005-20-0
51005-21-1
53851-19-7
90452-29-2
AC1L1ADQ
AC1L3QHF
AC1Q6QZ0
AR-1K7463
Bioxyde d'azote
Bioxyde d'azote [French]
C00533
CCRIS 4319
CHEMBL1200689
CHEMBL1234765
CID145068
CID945
D00074
D009569
DB00435
EDRF
EINECS 233-271-0
Endogenous Nitrate Vasodilator
Endothelium-Derived Nitric Oxide
HNO
HSDB 1246
INOmax
INOmax (TN)
Inomax
LS-192158
LS-7547
MolPort-003-929-452
Mononitrogen monoxide
Monoxide, Mononitrogen
Monoxide, Nitrogen
Monoxido de nitrogeno
Monoxyde d'azote
NITRIC-OXIDE
NO
NO(.)
Nitrate Vasodilator, Endogenous
Nitric Oxide, Endothelium Derived
 
Nitric Oxide, Endothelium-Derived
Nitric oxide
Nitric oxide (JAN)
Nitric oxide 10% by volume or more
Nitric oxide trimer
Nitric oxide, compressed [UN1660] [Poison gas]
Nitric oxide, compressed [UN1660] [Poison gas]
Nitrogen monoxide
Nitrogen oxide
Nitrogen oxide (NO)
Nitrogen protoxide
Nitrosyl
Nitrosyl hydride
Nitrosyl hydride ((NO)H)
Nitrosyl radical
Nitroxide radical
Nitroxyl
OHM 11771
Oxide, Nitric
Oxido de nitrogeno(ii)
Oxido nitrico
Oxyde azotique
Oxyde nitrique
Oxyde nitrique [French]
RCRA waste no. P076
Stickmonoxyd
Stickmonoxyd [German]
Stickstoff(II)-oxid
Stickstoff(ii)-oxid
Stickstoffmonoxid
UN 1660
UN1660
UNII-31C4KY9ESH
Vasodilator, Endogenous Nitrate
[NO]
endothelium-derived relaxing factor
monoxido de nitrogeno
monoxyde d'azote
nitric oxide
nitrogen monooxide
nitrogen monoxide
nitrosyl
oxido de nitrogeno(II)
oxido nitrico
oxidonitrogen(.)
oxoazanyl
oxyde azotique
2Vasodilator AgentsPhase 42926
3Phosphodiesterase InhibitorsPhase 41062
4Sildenafil CitratePhase 4304171599-83-0
5Phosphodiesterase 5 InhibitorsPhase 4513
6
Citric AcidnutraceuticalPhase 4100177-92-9311
Synonyms:
2-Hydroxy-1,2,3-propanetricarboxylate
2-Hydroxy-1,2,3-propanetricarboxylic acid
2-Hydroxytricarballylic acid
3-Carboxy-3-hydroxypentane-1,5-dioate
3-Carboxy-3-hydroxypentane-1,5-dioic acid
Aciletten
Anhydrous citrate
Anhydrous citric acid
Chemfill
Citraclean
 
Citrate
Citretten
Citric acid
Citro
Citronensäure
E 330
Hydrocerol A
Kyselina citronova
Suby G
Uro-trainer
beta-Hydroxytricarballylate
beta-Hydroxytricarballylic acid
7CitrateNutraceuticalPhase 41001
8
Omeprazoleapproved, investigationalPhase 332173590-58-64594
Synonyms:
( -)-Omeprazole
(-)-Omeprazole
(S)-(-)-Omeprazole
(S)-Omeprazole
119141-89-8
131959-78-9
172964-80-6
2,3,5-Trimethylpyridine/Omeprazole
2-(((3,5-Dimethyl-4-methoxy-2-pyridyl)methyl)sulfinyl)-5-methoxy-1H-benzimidazole
2-({[3,5-dimethyl-4-(methyloxy)pyridin-2-yl]methyl}sulfinyl)-5-(methyloxy)-1H-benzimidazole
5-Methoxy-2-(((4-methoxy-3,5-dimethyl-2-pyridyl)methyl)sulfinyl)benzimidazole
5-Methoxy-2-[[(4-methoxy-3,5-dimethyl-2-pyridinyl)methyl]sulfinyl]-1H-benzimidazole
5-Methoxy-2[(4-methoxy-3,5-dimethyl-2-pyridyl)methylsulfinyl]-1H-benzimidazole
5-methoxy-2-{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl}-1H-benzimidazole
6-methoxy-2-[(4-methoxy-3,5-dimethylpyridin-2-yl)methylsulfinyl]-1H-benzimidazole
73590-58-6
AC-401
AC1L1IIJ
AGI-010
AKOS005066653
AULCER
Antra
Antra MUPS
Audazol
Aulcer
Axagon
BIDD:GT0189
BPBio1_000425
BRD-A55962179-001-04-9
BSPBio_000385
Being Well Omeprazole
Belmazol
Bio-0888
C07324
CAS-73590-58-6
CCRIS 7099
CHEBI:519601
CHEBI:7772
CHEMBL1503
CID4594
CPD000058847
Care One Omeprazole
Ceprandal
D00455
DB00338
DB00736
DM-3458
Danlox
Demeprazol
Desec
Dg Health Omeprazole
Dizprazol
Dudencer
Elgam
Emeproton
Emilok
Epirazole
Equaline Omeprazole
Equate Omeprazole Delayed Release acid reducer
Erbolin
Esomeprazole
Esomperazole
Esopral
Exchange Select Omeprazole
Exter
Family Wellness Omeprazole
Formu Care Omeprazole
Fulton Street Market Omeprazole
Gasec
Gastrimut
Gastroloc
Gibancer
Good Neighbor Pharmacy Omeprazole
Good Sense Omeprazole
H 168-68
H 168/68
H-168/68
H168/68
HMS1528I05
HMS1569D07
HMS2052G17
HMS2090E16
HMS2090F11
HSDB 3575
Harmon Face Values Omeprazole
Health Mart Omeprazole
Healthy Accents Omeprazole
I06-0705
IDI1_032523
Indurgan
Inhibitron
Inhipump
Kirkland Signature Omeprazole
LS-7629
Leader Omeprazole
Lensor
Logastric
Lomac
Losec
Losec, Omesec, Prilosec, Zegerid, Omeprazole
Lucen
MLS000069373
MLS001076112
MLS001424148
Maybridge4_002645
Members Mark Omeprazole
Mepral
Miol
Miracid
MolPort-003-666-741
MolPort-003-807-515
MolPort-003-849-702
Mopral
 
Morecon
NCGC00016925-01
NCGC00016925-02
NCGC00021522-03
NCGC00021522-04
NCGC00021522-05
Nexiam
Nexium
Nexium IV
Nilsec
Nopramin
Nuclosina
O0359
O104_SIGMA
OMEP
OMP
OMZ
Ocid
Olex
Olexin
Olit
Omapren
Omebeta
Omebeta 20
Omed
Omegast
Omepradex
Omepral
Omeprazol
Omeprazol [INN-Spanish]
Omeprazole
Omeprazole (JAN/USP/INN)
Omeprazole Delayed Release
Omeprazole Delayed-release
Omeprazole Magnesium
Omeprazole Pellets
Omeprazole [USAN:INN:BAN:JAN]
Omeprazole delayed-release
Omeprazole magnesium
Omeprazole sodium
Omeprazolum
Omeprazolum [INN-Latin]
Omeprazon
Omeprazone
Omeprol
Omesec
Omesek
Omez
Omezol
Omezolan
Omid
Omisec
Omizac
Ompanyt
Ortanol
Osiren
Ozoken
Paprazol
Parizac
Pepticum
Pepticus
Peptilcer
Prazentol
Prazidec
Prazolit
Preferred Plus Omeprazole
Prestwick0_000493
Prestwick1_000493
Prestwick2_000493
Prestwick3_000493
Prestwick_808
Prilosec
Prilosec (TN)
Prilosec OTC
Procelac
Proclor
Prysma
Quality Choice Omeprazole
Ramezol
Regulacid
Result
S1389_Selleck
SAM001246900
SAN-15
SMR000058847
SPBio_002306
STK623746
Sanamidol
Secrepina
Shoprite Omeprazole
Simply Right Omeprazole
Smart Sense Omeprazole
Sunmark Omeprazole
TL8005099
Tedec Ulceral
Topcare Omeprazole
UNII-KG60484QX9
UPCMLD-DP075
UPCMLD-DP075:001
Ulceral
Ulcesep
Ulcometion
Ulcozol
Ulcsep
Ulsen
Ultop
Ulzol
Victrix
Zefxon
Zegerid
Zepral
Zimor
Zoltum
esomeprazol
omeprazole
9AnestheticsPhase 3, Phase 27385
10Pharmaceutical SolutionsPhase 37004
11
Proton pump inhibitorsPhase 3958
Synonyms:
 
PPIs
12AntacidsPhase 31453
13Anti-Ulcer AgentsPhase 31453
14Gastrointestinal AgentsPhase 36401
15
Pentobarbitalapproved1076-74-44737
Synonyms:
(+-)-5-Ethyl-5-(1-methylbutyl)barbituric acid
5-24-09-00168 (Beilstein Handbook Reference)
5-Ethyl-5-(1-methyl-butyl)-pyrimidine-2,4,6-trione
5-Ethyl-5-(1-methylbutyl)-2,4,6(1H,3H,5H)-pyrimidinetrione
5-Ethyl-5-(1-methylbutyl)barbituric acid
5-Ethyl-5-(1-methylbutyl)malonylurea
5-Ethyl-5-(sec-pentyl)barbituric acid
5-ethyl-2-hydroxy-5-(1-methylbutyl)pyrimidine-4,6(1H,5H)-dione
5-ethyl-5-(1-methylbutyl)barbituric acid
5-ethyl-5-(pentan-2-yl)pyrimidine-2,4,6(1H,3H,5H)-trione
5-ethyl-5-(sec-pentyl)barbituric acid
5-ethyl-5-pentan-2-yl-1,3-diazinane-2,4,6-trione
57-33-0 (mono-hydrochloride salt)
76-74-4
AC1L1IUE
AC1Q2UJM
AKOS000277861
Aethaminalum
BRN 0087067
BSPBio_003305
C07422
CCRIS 7089
CHEBI:7983
CHEMBL448
CID4737
D00499
DB00312
DEA No. 2270
DivK1c_000992
Dorsital
EINECS 200-983-8
Etaminal
Ethaminal
Ethyl-propylmethylcarbinylbarbituric acid
HMS2094E21
HMS503G05
HSDB 3151
IDI1_000992
KBio1_000992
KBio2_002266
KBio2_004834
KBio2_007402
KBio3_002807
KBioGR_001008
KBioSS_002267
LS-24385
 
Mebubarbital
Mebumal
MolPort-001-785-697
MolPort-003-666-760
NCGC00096074-01
NCGC00096074-02
NINDS_000992
NSC 28708
NSC28708
Nebralin
Nembutal
Nembutal (TN)
Nembutal (VAN)
Neodorm
Neodorm (VAN)
Neodorm (new)
Oprea1_143902
Oprea1_775730
Pentabarbital
Pentabarbitone
Pentobarbital
Pentobarbital (USP/INN)
Pentobarbital (VAN)
Pentobarbital Sodium
Pentobarbital [USP:INN]
Pentobarbital calcium
Pentobarbital suppository dosage form
Pentobarbital, Monosodium Salt
Pentobarbitale
Pentobarbitale [DCIT]
Pentobarbitalum
Pentobarbitalum [INN-Latin]
Pentobarbitone
Pentobarbitone (VAN)
Pentobarbiturate
Pentobarbituric acid
Rivadorm
SPBio_002201
SPECTRUM1900006
Sodium Pentobarbital
Spectrum2_001991
Spectrum3_001783
Spectrum4_000574
Spectrum5_001705
Spectrum_001783
UNII-I4744080IR
WLN: T6VMVMV FHJ FY3&1 F2
pentobarbital
16Immunoglobulins4477
17Micronutrients3901
18Antibodies4477
19Vitamins3857
20Trace Elements3900
21Anti-Asthmatic Agents2796
22Bronchodilator Agents2377
23Vasoconstrictor Agents1303
24Peripheral Nervous System Agents18510
25Respiratory System Agents3931
26Albuterol384
27Immunologic Factors18483
28Liver Extracts3572
29
30Central Nervous System Depressants10016
31lysineNutraceutical77
32threonineNutraceutical17

Interventional clinical trials:

(show top 50)    (show all 66)
idNameStatusNCT IDPhase
1Nissen and Gastroplasty in Gastroesophageal Reflux Disease (GERD)CompletedNCT00872755Phase 4
2Biologic Versus Synthetic Mesh for Treatment of Paraesophageal HerniaRecruitingNCT02242526Phase 4
3Transoral Incisionless Fundoplication (TIF) Registry Study for Treatment of Gastroesophageal Reflux Disease (GERD)Active, not recruitingNCT01118585Phase 4
4Transoral Incisionless Fundoplication (TIF) Versus Sham for Treatment of Gastroesophageal Reflux Disease (GERD)Active, not recruitingNCT01110811Phase 4
5Chronic Sildenafil for Severe Diaphragmatic HerniaTerminatedNCT00133679Phase 4
6Randomized EsophyX Versus Sham / Placebo Controlled TIF Trial: The RESPECT StudyCompletedNCT01136980Phase 3
7Tracheal Occlusion To Accelerate Lung Growth (TOTAL) Trial for Severe Pulmonary HypoplasiaRecruitingNCT01240057Phase 2, Phase 3
8Rectal and Oral Omeprazole Treatment of Reflux Disease in Infants.RecruitingNCT00226044Phase 3
9Laparoscopic Repair of Giant Hiatal Hernias With Nitinol-framed Lightweight Polytetrafluoroethylene MeshActive, not recruitingNCT01780285Phase 3
10Laparoscopic Lightweight Mesh Repair of Large Hiatal HerniasActive, not recruitingNCT01408108Phase 3
11Usage of Biological Patch Versus Plastic in the Laparoscopic Repair of Hiatal HerniasActive, not recruitingNCT02328248Phase 2, Phase 3
12Type of Material in Repair of Congenital Diaphragmatic HerniaTerminatedNCT00257946Phase 3
13Fetal Tracheal Occlusion in Severe Diaphragmatic Hernia: a Randomized TrialRecruitingNCT01302977Phase 2
14Fetoscopic Tracheal Balloon Occlusion in Left Diaphragmatic HerniaRecruitingNCT00373438Phase 2
15Percutaneous Endoscopic Tracheal Plug/Unplug for CDHActive, not recruitingNCT00768703Phase 1, Phase 2
16"Nanotechnologies Applied to General Surgery and Emergency Surgery: Buckypaper as a New Fixing Method for Prosthetic Materials for the Treatment of Hernia and Incisional Hernia in Laparotomy and LaparoscopicActive, not recruitingNCT02137018Phase 1, Phase 2
17Early FETO for Severe Congenital Diaphragmatic HerniaNot yet recruitingNCT01731509Phase 2
18Fetal Tracheal Balloon Study in Diaphragmatic HerniaTerminatedNCT00966823Phase 2
19Fetoscopic Endoluminal Tracheal Occlusion (FETO) for Severe Left Diaphragmatic Hernia (CDH)RecruitingNCT02710968Phase 1
20Airway Inflammation in Congenital Diaphragmatic Hernia PatientsCompletedNCT02453750
21Early Childhood Follow-up of Congenital Diaphragmatic Hernia SurvivorsCompletedNCT01029665
22Inflammatory Cytokine Quantification in InfantsCompletedNCT01155830
23Study in Children With the Diagnosis of Congenital Diaphragmatic Hernia (CDH) and Oesophageal Atresia (EA)CompletedNCT02466451
24Antibody Secreting Cell and Cyotokine Profiles in Neonates on ECMOCompletedNCT00371241
25Genetic Analysis of Fraser Syndrome and Fryns SyndromeCompletedNCT00032877
26Determination of Lysine Requirement in the Parenterally Fed NeonateCompletedNCT00779753
27PREMAPIV : Intravesical Pressure Variation at Different Bladder Instillation Volumes in Newborn ChildrenCompletedNCT01296724
28Short Esophagus in Type II-IV Hiatus HerniaCompletedNCT01587859
29Use of Strattice Mesh in Paraesophageal Hernia SurgeryCompletedNCT01678157
30Randomized, Prospective Controlled Trial of Paraesophageal Hernia Repair With Small Intestinal Submucosa (SIS)CompletedNCT00272922
31Long-term Outcome of Laparoscopic Hiatal Hernia Repair With or Without Alloderm Mesh at a University HospitalCompletedNCT01776827
32Follow-up of Patients Operated Upon for Type II-IV Hiatal HerniaCompletedNCT01606449
33Necessity of Esophageal Dissection During Laparoscopic FundoplicationCompletedNCT00287612
34Laparoscopy Versus Clinical Follow up to Detect Diaphragm InjuryCompletedNCT01044550
35Prospective Study of Ventral Hernia RepairCompletedNCT00894582
36Diaphragmatic Hernia Research & Exploration, Advancing Molecular ScienceRecruitingNCT00950118
37Gene Mutations and Rescue in Human Congenital Diaphragmatic HerniaRecruitingNCT01098929
38Fetal Endotracheal Occlusion (FETO) in Severe and Extremely Severe Congenital Diaphragmatic HerniaRecruitingNCT00881660
39Open or Keyhole Surgery Through the Chest for Newborn Babies: Effect on Blood GasesRecruitingNCT01467245
40Randomized Control Trial of Fetoscopic Endoluminal Tracheal Occlusion With a Balloon Versus Expectant Management During Pregnancy in Fetuses With Left Sided Congenital Diaphragmatic Hernia and Moderate Pulmonary Hypoplasia.RecruitingNCT00763737
41Fetoscopic Endoluminal Tracheal Occlusion in Severe Left Congenital Diaphragmatic HerniaRecruitingNCT02549820
42Trial of Fetoscopic Endoluminal Tracheal Occlusion (FETO)RecruitingNCT02530073
43Fetoscopic Endoluminal Tracheal Occlusion (FETO) for Congenital Diaphragm HerniaRecruitingNCT02596802
44Genetic Basis of Non Syndromic Congenital Diaphragmatic HerniaRecruitingNCT02175264
45Genetic Analysis of Congenital Diaphragmatic DisordersRecruitingNCT01243229
46Pregnancy Environment and Newborn MalformationsRecruitingNCT01613638
47Circulatory Changes During Venovenous (VV)- and Venoarterial (VA) Extracorporeal Membrane Oxygenation (ECMO)RecruitingNCT00622492
48Evaluation of the Follow Me Mode of the AutoLap System - A Feasibility StudyRecruitingNCT02326870
49Metabolic Screening in Patients With Donnai-Barrow SyndromeRecruitingNCT01509287
50Mutations in Genes Associated With Pentalogy of Cantrell or Non-Muscle Myosin II SyndromesRecruitingNCT00083499

Search NIH Clinical Center for Congenital Diaphragmatic Hernia


Cochrane evidence based reviews: hernia, diaphragmatic

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 Hernia22

Anatomical Context for Congenital Diaphragmatic Hernia

About this section

MalaCards organs/tissues related to Congenital Diaphragmatic Hernia:

33
Lung, Heart, Liver, Endothelial, Breast, Brain, Small intestine

Animal Models for Congenital Diaphragmatic Hernia or affiliated genes

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MGI Mouse Phenotypes related to Congenital Diaphragmatic Hernia:

38 (show all 21)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030129.2EFNB1, GATA4, LRP2, NKX2-1, NR2F2, SHH
2MP:00053918.9ALDH1A2, EFNB1, FREM1, LRP2, NIPBL, NOS3
3MP:00107718.8EFNB1, FGF7, FREM1, GATA4, HOMER2, PORCN
4MP:00053778.6ALDH1A2, EDN1, EFNB1, LRP2, NIPBL, SHH
5MP:00053828.5ALDH1A2, EDN1, EFNB1, FREM1, LRP2, NIPBL
6MP:00053888.5ALDH1A2, EFNB1, FREM1, GATA4, GATA6, LRP2
7MP:00053718.5ALDH1A2, EFNB1, FREM1, GATA4, GATA6, LRP2
8MP:00053818.3EDN1, EFNB1, FREM1, GATA4, LRP2, NKX2-1
9MP:00053678.3ALDH1A2, EDN1, FGF7, FREM1, LRP2, NOS3
10MP:00053808.1ALDH1A2, EDN1, EFNB1, GATA4, GATA6, HCCS
11MP:00053698.0ALDH1A2, EDN1, FREM1, GATA4, GATA6, HCCS
12MP:00053847.8ALDH1A2, EFNB1, GATA4, GATA6, HCCS, LRP2
13MP:00028737.7ALDH1A2, EDN1, FREM1, GATA4, GATA6, HCCS
14MP:00053907.7ALDH1A2, EDN1, EFNB1, FREM1, GATA4, LRP2
15MP:00053897.6EFNB1, FGF7, FREM1, GATA4, GATA6, LRP2
16MP:00053797.4ALDH1A2, EDN1, EFNB1, FREM1, GATA4, HOMER2
17MP:00053857.3ALDH1A2, EDN1, GATA4, GATA6, HCCS, LRP2
18MP:00053767.3ALDH1A2, EDN1, EFNB1, FGF7, GATA4, GATA6
19MP:00036317.1ALDH1A2, EDN1, EFNB1, FGF7, FREM1, GATA4
20MP:00053786.9ALDH1A2, EDN1, EFNB1, FREM1, GATA4, GATA6
21MP:00107686.8ALDH1A2, EDN1, EFNB1, FREM1, GATA4, GATA6

Publications for Congenital Diaphragmatic Hernia

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Articles related to Congenital Diaphragmatic Hernia:

(show top 50)    (show all 691)
idTitleAuthorsYear
1
Sphingolipids in Congenital Diaphragmatic Hernia; Results from an International Multicenter Study. (27159222)
2016
2
Improving the Prediction of Neonatal Outcomes in Isolated Left-Sided Congenital Diaphragmatic Hernia by Direct and Indirect Sonographic Assessment of Liver Herniation. (27208195)
2016
3
Pulmonary capillary hemangiomatosis in a neonate with congenital diaphragmatic hernia. (25678439)
2015
4
Short-Term Outcomes and Medical and Surgical Interventions in Infants with Congenital Diaphragmatic Hernia. (25825963)
2015
5
Management of congenital diaphragmatic hernia: a systematic review from the APSA outcomes and evidence based practice committee. (26463502)
2015
6
Improved mortality rate for congenital diaphragmatic hernia in the modern era of management: 15year experience in a single institution. (25840055)
2015
7
Neurodevelopmental outcome at one year of age in congenital diaphragmatic hernia infants not treated with extracorporeal membrane oxygenation. (25818204)
2015
8
Minimally invasive surgery for congenital diaphragmatic hernia: a meta-analysis. (26438082)
2015
9
Full thickness abdominal wall defect in growing rats as a model for congenital diaphragmatic hernia prosthetic repair. (25280646)
2014
10
A 22-Week-Old Fetus with Nager Syndrome and Congenital Diaphragmatic Hernia due to a Novel SF3B4 Mutation. (25337072)
2014
11
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
12
Liquid ventilation in congenital diaphragmatic hernia: back on stage?*. (25370065)
2014
13
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
14
Atypical presentation of congenital diaphragmatic hernia. (25378787)
2014
15
Splenic torsion after congenital diaphragmatic hernia repair: case report and review of the literature. (23480945)
2013
16
Fetal production of growth factors and inflammatory mediators predicts pulmonary hypertension in congenital diaphragmatic hernia. (23770923)
2013
17
Minimally invasive surgery in infants with congenital diaphragmatic hernia: outcome and selection criteria. (23908966)
2013
18
Cord blood endothelial colony-forming cells from newborns with congenital diaphragmatic hernia. (23684109)
2013
19
Decreased apelin and apelin-receptor expression in the pulmonary vasculature of nitrofen-induced congenital diaphragmatic hernia. (24363088)
2013
20
Long-term maturation of congenital diaphragmatic hernia treatment results: toward development of a severity-specific treatment algorithm. (23989050)
2013
21
Pulmonary support on day 30 as a predictor of morbidity and mortality in congenital diaphragmatic hernia. (23845605)
2013
22
Enteric Nervous System and Esophageal-Gastrointestinal Motility in Experimental Congenital Diaphragmatic Hernia. (23686664)
2013
23
Late-presenting congenital diaphragmatic hernia in children: the experience of single institution in Korea. (23918563)
2013
24
Advances in prenatal diagnosis and treatment of congenital diaphragmatic hernia. (22682380)
2012
25
Influence of gender on mortality and need for extracorporeal membrane oxygenation in neonates with congenital diaphragmatic hernia. (22523303)
2012
26
Congenital diaphragmatic hernia. (23114974)
2012
27
Terlipressin as rescue therapy for refractory pulmonary hypertension in a neonate with a congenital diaphragmatic hernia. (21292065)
2011
28
Pulmonary development considerations in the surgical management of congenital diaphragmatic hernia. (21920679)
2011
29
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
30
Echocardiographic measures of ventricular function and pulmonary artery size: prognostic markers of congenital diaphragmatic hernia? (21311494)
2011
31
Intravesical pressure: A new prognostic indicator in congenital diaphragmatic hernia. (22121309)
2011
32
Influence of fetal stabilization on postnatal status of patients with congenital diaphragmatic hernia. (20842386)
2011
33
Bronchopulmonary innervation defects in infants and rats with congenital diaphragmatic hernia. (20152352)
2010
34
Learning curve for lung area to head circumference ratio measurement in fetuses with congenital diaphragmatic hernia. (20131334)
2010
35
Mortality in infants with congenital diaphragmatic hernia: a study of the United States National Database. (20147959)
2010
36
Adrenal insufficiency in newborns with congenital diaphragmatic hernia. (20056240)
2010
37
Congenital diaphragmatic hernia in Lowe syndrome: a rare association? (20823704)
2010
38
Management of prenatally diagnosed congenital diaphragmatic hernia. (19884051)
2010
39
Thoracoscopic treatment of chylothorax after patch repair of congenital diaphragmatic hernia. (20713234)
2010
40
Perforated ulcer mimicking a spontaneous pneumothorax in a patient with congenital diaphragmatic hernia. (19385305)
2009
41
Tracheal occlusion for fetal congenital diaphragmatic hernia: the US experience. (19559324)
2009
42
Congenital diaphragmatic hernia: outcome review of 2,173 surgical repairs in US infants. (19727769)
2009
43
Pleural and pericardial effusion: a potential ultrasonographic marker for the prenatal differential diagnosis between congenital diaphragmatic eventration and congenital diaphragmatic hernia. (17366518)
2007
44
Pulmonary hypertension in human newborns with congenital diaphragmatic hernia is associated with decreased vascular expression of nitric-oxide synthase. (16456243)
2006
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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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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Pathways related to Congenital Diaphragmatic Hernia according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.7GATA4, GATA6, SHH
29.7FGF7, SHH
39.3FGF7, GATA4, SHH, WT1

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 34)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of male gonad developmentGO:200002010.8WT1, ZFPM2
2cellular response to gonadotropin stimulusGO:007137110.8GATA6, WT1
3Clara cell differentiationGO:006048610.7GATA6, NKX2-1
4lung saccule developmentGO:006043010.7GATA6, NKX2-1
5positive regulation of BMP signaling pathwayGO:003051310.7GATA4, GATA6
6ventricular septum developmentGO:000328110.7GATA4, LRP2
7cardiac muscle cell differentiationGO:005500710.7GATA4, GATA6
8regulation of systemic arterial blood pressure by endothelinGO:000310010.5EDN1, NOS3
9neural crest cell developmentGO:001403210.5ALDH1A2, EDN1
10limb developmentGO:006017310.5NR2F2, SHH
11blood vessel morphogenesisGO:004851410.5EDN1, NR2F2
12cardiac muscle tissue developmentGO:004873810.5ALDH1A2, GATA6, ZFPM2
13thyroid gland developmentGO:003087810.5NKX2-1, SHH
14mesenchymal cell proliferationGO:001046310.4FGF7, SHH
15hair follicle morphogenesisGO:003106910.3FGF7, SHH
16forebrain developmentGO:003090010.3ALDH1A2, NKX2-1, SHH
17response to vitamin AGO:003318910.3ALDH1A2, GATA4
18camera-type eye developmentGO:004301010.2ALDH1A2, SHH, WT1
19cell fate commitmentGO:004516510.2GATA4, GATA6, SHH
20organ morphogenesisGO:000988710.2ELN, HCCS, NKX2-1
21metanephros developmentGO:000165610.2NIPBL, SHH
22anterior/posterior pattern specificationGO:000995210.2ALDH1A2, NR2F2, SHH
23vasculogenesisGO:000157010.1SHH, WT1, ZFPM2
24positive regulation of angiogenesisGO:004576610.1GATA4, GATA6, NOS3
25branching involved in salivary gland morphogenesisGO:006044510.1FGF7, SHH
26in utero embryonic developmentGO:00017019.9EDN1, GATA6, NOS3, NR2F2
27anatomical structure formation involved in morphogenesisGO:00486469.8GATA6, NKX2-1, SHH
28blood coagulationGO:00075969.8GATA4, GATA6, NOS3, SHH
29negative regulation of transcription, DNA-templatedGO:00458929.7GATA6, NIPBL, NKX2-1, NR2F2, WT1
30lung developmentGO:00303249.5ALDH1A2, NKX2-1, SHH, ZFPM2
31regulation of transcription, DNA-templatedGO:00063559.5GATA6, NKX2-1, NR2F2, SHH, WT1
32positive regulation of transcription, DNA-templatedGO:00458939.2FGF7, GATA4, GATA6, NR2F2, SHH, WT1
33negative regulation of transcription from RNA polymerase II promoterGO:00001229.0EDN1, GATA6, NIPBL, NR2F2, SHH, ZFPM2
34positive regulation of transcription from RNA polymerase II promoterGO:00459448.9EDN1, GATA4, SHH, WT1, ZFPM2

Sources for Congenital Diaphragmatic Hernia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet