MCID: CNG015
MIFTS: 57

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, 47Novoseek, 12DISEASES, 51Orphanet, 36MeSH, 24GTR, 65UMLS, 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
Hernia Diaphragmatic Congenital 47 24
Congenital Diaphragmatic Defect 45 23
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 heart disease and dih1-related congenital diaphragmatic hernia, 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 440)
idRelated DiseaseScoreTop Affiliating Genes
1heart disease30.1EDN1, FGF7, NOS3
2dih1-related congenital diaphragmatic hernia12.5
3hiatus hernia11.8
4craniofacial-deafness-hand syndrome11.7
5breast cancer10.7
6hepatitis10.6
7arthritis10.6
8lymphoma10.6
9tuberculosis10.6
10donnai-barrow syndrome10.5
11pulmonary hypertension, neonatal10.5
12diaphragmatic hernia 310.5
13fryns syndrome10.5
14lung cancer10.5
15leukemia10.5
16prostatitis10.5
17endotheliitis10.5
18rheumatoid arthritis10.5
19melanoma10.5
20cerebritis10.5
21neuronitis10.5
22univentricular heart with single atrio-ventricular valve10.5GATA4, GATA6
23neuroblastoma10.4
24multiple myeloma10.4
25myeloma10.4
26thyroiditis10.4
27colorectal cancer10.4
28hiv-110.4
29prostate cancer10.4
30hepatitis c10.4
31ischemia10.4
32pancreatitis10.4
33dysmorphism-short stature-deafness-disorder of sex development syndrome10.4GATA4, ZFPM2
34transverse limb deficiency hemangioma10.4GATA6, NR2F2, ZFPM2
35congenital heart disease10.3GATA4, GATA6, ZFPM2
36spindle cell variant squamous cell breast carcinoma10.3ELN, WT1
37partial deletion of y10.3GATA4, GATA6, NR2F2
38schizophrenia10.3
39myocardial infarction10.3
40obesity10.3
41anaplastic large cell lymphoma10.3
42spondylolisthesis10.3
43sarcoma10.3
44esophagitis10.3
45thymoma10.3
46pneumonia10.3
47adenoma10.3
48lung disease10.3
49encephalitis10.3
50aneurysm10.3

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

About this section

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, Breast, Endothelial, Small intestine, Prostate

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 666)
idTitleAuthorsYear
1
Adoptive transfer of T cells transduced with a chimeric antigen receptor to treat relapsed or refractory acute leukemia: efficacy and feasibility of immunotherapy approaches. (27142351)
2016
2
Treatment of a Giant Fusiform Basilar Aneurysm with Partial Intra-Aneurysmal Embolization Combined with Mid-Basilar Artery Occlusion in a Child. (27116216)
2016
3
Population-Based Study of Trachoma in Guatemala. (26158582)
2015
4
Associations between apolipoprotein E gene polymorphisms and Alzheimer's disease risk in a large Chinese Han population. (25673977)
2015
5
Brain dopaminergic system related genetic variability interacts with target/mask timing in metacontrast masking. (25804664)
2015
6
A Case of Cutaneous Rosai-Dorfman Disease with underlying calvarial involvement and absence of BRAF(V600E) mutation. (26858984)
2015
7
Update and Mutational Analysis of SLC20A2: A Major Cause of Primary Familial Brain Calcification. (25726928)
2015
8
Disability and not osteoarthritis predicts cardiovascular disease: a prospective population-based cohort study. (24385204)
2014
9
Venous thromboembolism and varicose veins share familial susceptibility: a nationwide family study in Sweden. (25158864)
2014
10
A qualitative participatory study to identify experiences of coronary heart disease patients to support the development of online self-management services. (24113277)
2013
11
Severe ischemic bowel necrosis caused by terlipressin during treatment of hepatorenal syndrome. (24459647)
2013
12
Apelin-13 induces proliferation, migration, and collagen I mRNA expression in human RPE cells via PI3K/Akt and MEK/Erk signaling pathways. (24227918)
2013
13
Resilience and social support promote posttraumatic growth of women with infertility: The mediating role of positive coping. (24368061)
2013
14
Hereditary hemorrhagic telangiectasia with pulmonary arteriovenous malformations and embolic strokes treated successfully with video-assisted thoracoscopic resection. (23676596)
2013
15
I+-linolenic acid inhibits human renal cell carcinoma cell proliferation through PPAR-I^ activation and COX-2 inhibition. (23946803)
2013
16
Antibody uptake into neurons occurs primarily via clathrin-dependent FcI^ receptor endocytosis and is a prerequisite for acute tau protein clearance. (24163366)
2013
17
Computer aided measurement of sub-epithelial collagen band in colon biopsies for collagenous colitis diagnosis. (23200274)
2013
18
Fact or faith?: on the evidence for psychotherapy for adults with intellectual disability and mental health needs. (22854415)
2012
19
Coxsackievirus A24 variant uses sialic acid-containing O-linked glycoconjugates as cellular receptors on human ocular cells. (21880775)
2011
20
MRI features of intraductal papilloma of the breast: sheep in wolf's clothing? (21498361)
2011
21
High density lipoprotein inhibits the activation of sterol regulatory element-binding protein-1 in cultured cells. (20171215)
2010
22
Clinical characteristics of intrahepatic cholangiocarcinoma and prognostic factors in patients who received non-surgical treatment]. (19844142)
2009
23
Coronary artery disease mimicking Tako-tsubo cardiomyopathy: a case report. (19918582)
2009
24
Phase II study of bortezomib in patients with previously treated advanced urothelial tract transitional cell carcinoma: CALGB 90207. (18272914)
2008
25
Surgical strategy for congenital blepharophimosis syndrome. (17825170)
2007
26
Effect of renin-angiotensin system in Fabry disease associated proteinuria]. (17397632)
2007
27
Malignant gastrointestinal stromal tumor of the ampulla of Vater presenting with obstructive jaundice. (16855323)
2006
28
Oxygen activation by a mixed-valent, diiron(II/III) cluster in the glycol cleavage reaction catalyzed by myo-inositol oxygenase. (16634621)
2006
29
Tc-99m ciprofloxacin (infecton) in abdominal tuberculosis. (16495737)
2006
30
Forskolin and dexamethasone synergistically induce aromatase (CYP19) expression in the human osteoblastic cell line SV-HFO. (15817919)
2005
31
Annexin A2 mediates endothelial cell activation by antiphospholipid/anti-beta2 glycoprotein I antibodies. (15471954)
2005
32
Trefoil factors TFF (trefoil factor family) peptide-triggered signals promoting mucosal restitution. (16374581)
2005
33
A cathepsin L isoform that is devoid of a signal peptide localizes to the nucleus in S phase and processes the CDP/Cux transcription factor. (15099520)
2004
34
The role of HLA-G expression in the embryo during implantation]. (14968037)
2004
35
Expression of TGF-beta-induced matrix protein betaig-h3 is up-regulated in the diabetic rat kidney and human proximal tubular epithelial cells treated with high glucose. (12911551)
2003
36
Direct in vitro effects of androgens and estrogens on ob gene expression and leptin secretion in human adipose tissue. (12374466)
2002
37
The efficacy of prophylactic outpatient antibiotics for the prevention of neutropenic fever associated with high-dose etoposide (VP-16) for stem cell mobilization. (12209353)
2002
38
Assessment of fetal rhythm in complete congenital heart block by magnetocardiography. (10879394)
2000
39
Evaluation of the first automated thyroglobulin assay. (10219505)
1999
40
Use of undiluted whole cow's milk is effective for the routine treatment of children with acute diarrhea and severe dehydration. (9814379)
1998
41
Co-regulation of antigen-specific T lymphocyte responses by type I and type II cyclic AMP-dependent protein kinases (cAK). (9774149)
1998
42
The Muir-Torre syndrome: a rare variant of hereditary nonpolyposis colorectal cancer associated with hMSH2 mutation. (9732950)
1998
43
A dose-response relationship between the frequency of p53 mutations and tobacco consumption in lung cancer patients. (8544455)
1996
44
Fetus-like dystrophin expression and other cytoskeletal protein abnormalities in centronuclear myopathies. (7935525)
1994
45
Preferential vasoconstriction to cysteinyl leukotrienes in the human saphenous vein compared with the internal mammary artery. Implications for graft performance. (8026041)
1994
46
Male breast cancer and the androgen receptor gene. (8252034)
1993
47
Effect of pentobarbital on postischemic SCH 23390 and rolipram binding in gerbil brain. (8223965)
1993
48
Immunochemical characterization and quantitative distribution of pancreatic stone protein in sera and pancreatic secretions in pancreatic disorders. (1698685)
1990
49
Pathogenesis of hepatic coma. (167647)
1975
50
Islet cell tumor with hypoglycemia. (4323689)
1971

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