MCID: CNG015
MIFTS: 58

Congenital Diaphragmatic Hernia malady

Genetic diseases, Rare diseases, Gastrointestinal diseases, Respiratory diseases, Fetal diseases, Muscle diseases categories

Aliases & Classifications for Congenital Diaphragmatic Hernia

About this section
Sources:
10Disease Ontology, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 12DISEASES, 51Orphanet, 47Novoseek, 24GTR, 36MeSH, 29ICD9CM, 59SNOMED-CT, 42NCIt, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 27ICD10
See all sources

Aliases & Descriptions for Congenital Diaphragmatic Hernia:

Name: Congenital Diaphragmatic Hernia 10 21 45 22 23 12 51
Congenital Diaphragmatic Defect 45 23
Hernia Diaphragmatic Congenital 47 24
Cdh 45 51
Unilateral Agenesis of Diaphragm 45
Agenesis of Hemidiaphragm 45
 
Diaphragmatic Agenesia 51
Hernia, Diaphragmatic 36
Hernia Diaphragmatic 47
Diaphragmatic Hernia 10
Hernia, Hiatal 36
Cdhs 22


Classifications:



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


External Ids:

Disease Ontology10 DOID:3827
ICD9CM29 756.6
NCIt42 C34687
Orphanet51 2140
ICD10 via Orphanet28 Q79.0
MESH via Orphanet37 C538080
UMLS via Orphanet66 C0235833

Summaries for Congenital Diaphragmatic Hernia

About this section
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 congenital diaphragmatic defect, is related to pulmonary hypertension and esophagitis, and has symptoms including congenital diaphragmatic hernia, congenital diaphragmatic hernia and multifactorial inheritance. An important gene associated with Congenital Diaphragmatic Hernia is ZFPM2 (Zinc Finger Protein, FOG Family Member 2), and among its related pathways are Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5) and Diseases of metabolism. Affiliated tissues include lung, heart and fetal lung, and related mouse phenotypes are hearing/vestibular/ear and limbs/digits/tail.

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 congenital malformation (birth defect) of the diaphragm. The... more...

GeneReviews summary for cdh-ov

Related Diseases for Congenital Diaphragmatic Hernia

About this section

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 282)
idRelated DiseaseScoreTop Affiliating Genes
1pulmonary hypertension10.9
2esophagitis10.8
3esophageal atresia10.7
4enterocele10.7
5diaphragm disease10.7
6fryns syndrome10.6
7omphalocele10.6
8endotheliitis10.6
9wolf-hirschhorn syndrome10.5
10hepatitis10.5
11tracheal disease10.5
12gastroschisis10.5
13thyroiditis10.5
14tracheoesophageal fistula10.5
15diaphragmatic hernia 310.5
16diaphragmatic eventration10.5
17polyhydramnios10.5
18intestinal obstruction10.5
19pulmonary sequestration10.5
20abdominal wall defect10.5
21dandy-walker malformation with nasopharyngeal teratoma and diaphragmatic hernia10.5
22gastric dilatation10.4
23donnai-barrow syndrome10.4
24gastroesophageal reflux10.4
25wandering spleen10.4
26dih1-related congenital diaphragmatic hernia10.4
2717q12 microdeletion syndrome10.4
28hydrocephaly corpus callosum agenesis diaphragmatic hernia10.4
29craniofacial-deafness-hand syndrome10.3
30asthma10.3
31ehlers-danlos syndrome, classic type10.3
32pulmonary hypertension, neonatal10.3
33coffin-siris syndrome10.3
34denys-drash syndrome10.3
35meacham syndrome10.3
36pallister-killian syndrome10.3
37emanuel syndrome10.3
38linear skin defects with multiple congenital anomalies 110.3
39focal dermal hypoplasia10.3
40thoracoabdominal syndrome10.3
41simpson-golabi-behmel syndrome, type 110.3
42craniofrontonasal dysplasia10.3
43deficiency anemia10.3
44patent ductus arteriosus10.3
45hypertrophic pyloric stenosis10.3
46pulmonary immaturity10.3
47cornelia de lange syndrome10.3
48iron deficiency anemia10.3
49duodenitis10.3
50cerebritis10.3

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
3 multifactorial inheritance HP:0001426

Drugs & Therapeutics for Congenital Diaphragmatic Hernia

About this section

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

(show all 11)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Nitric OxideapprovedPhase 454010102-43-9145068
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
2
Sildenafilapproved, investigationalPhase 4296139755-83-25212
Synonyms:
1-((3-(4,7-Dihydro-1-methyl-7-oxo-3-propyl-1H-pyrazolo(4,3-D)pyrimidin-5-yl)-4-ethoxyphenyl)sulfonyl)-4-methylpiperazine
1-((3-(4,7-Dihydro-1-methyl-7-oxo-3-propyl-1H-pyrazolo(4,3-d)pyrimidin-5-yl)-4-ethoxyphenyl)sulfonyl)-4-methylpiperazine
1-((3-(6,7-dihydro-1-methyl-7-oxo-3-propyl-1H-pyrazolo(4,3-d)pyrimidin-5-yl)-4-ethoxyphenyl)sulfonyl)-4-methylpiperazine citrate
139755-83-2
171599-83-0 (citrate)
1udt
1xos
2h42
5-(2-ethoxy-5-(4-methylpiperazin-1-ylsulfonyl)phenyl)-1-methyl-3-propyl-1H-pyrazolo[4,3-d]pyrimidin-7(6H)-one
5-[2-Ethoxy-5-(4-methyl-piperazine-1-sulfonyl)-phenyl]-1-methyl-3-propyl-1,6-dihydro-pyrazolo[4,3-d]pyrimidin-7-one (Sildenafil or Viagra)
5-[2-Ethoxy-5-(4-methyl-piperazine-1-sulfonyl)-phenyl]-1-methyl-3-propyl-1,6-dihydro-pyrazolo[4,3-d]pyrimidin-7-one(Sildenafil)
5-[2-ethoxy-5-(4-methylpiperazin-1-yl)sulfonylphenyl]-1-methyl-3-propyl-4H-pyrazolo[4,3-d]pyrimidin-7-one
5-{2-(ethyloxy)-5-[(4-methylpiperazin-1-yl)sulfonyl]phenyl}-1-methyl-3-propyl-1,6-dihydro-7H-pyrazolo[4,3-d]pyrimidin-7-one
5-{2-ethoxy-5-[(4-methylpiperazin-1-yl)sulfonyl]phenyl}-1-methyl-3-propyl-1,6-dihydro-7H-pyrazolo[4,3-d]pyrimidin-7-one
AC-938
AC1L1JUI
Ambap139755-83-2
Aphrodil
Aphrodil (TN)
BAS 04213629
BIDD:GT0352
BRD-K79759585-001-02-1
BSPBio_003424
C07259
C22H30N6O4S
CHEBI:9139
CHEMBL192
CID5212
Caverta
D08514
DB00203
DivK1c_006894
HMS1684K08
HMS1922B19
HMS2089M12
HMS2093O17
HSDB 7305
 
I06-0023
Jsp002373
KBio1_001838
KBio2_002035
KBio2_004603
KBio2_007171
KBio3_002927
KBioGR_001052
KBioSS_002035
LS-111655
MLS001240224
MLS001304737
MolPort-001-995-394
MolPort-002-885-861
NCGC00095099-01
NCGC00095099-02
NCGC00159496-02
Revatio
SMR000752512
SPBio_001775
SPECTRUM1504099
Sildenafil
Sildenafil (INN)
Sildenafil Citrate
Sildenafil Viagra
Sildenafil [INN:BAN]
Sildenafil citrate
SpecPlus_000798
Spectrum2_001648
Spectrum3_001892
Spectrum4_000586
Spectrum5_001508
Spectrum_001555
UK-92,480-10
UK-92480
UNII-3M7OB98Y7H
VIA
Viagra
sildenafil
3Calcium polycarbophilPhase 438
4Phosphodiesterase 5 InhibitorsPhase 4518
5PsylliumNutraceuticalPhase 438
6
Omeprazoleapproved, investigationalPhase 329973590-58-64594
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
7
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
8Albuterol465
9
10lysineNutraceutical70
11threonineNutraceutical16

Interventional clinical trials:

(show top 50)    (show all 73)
idNameStatusNCT IDPhase
1Nissen and Gastroplasty in Gastroesophageal Reflux Disease (GERD)CompletedNCT00872755Phase 4
2Biologic Versus Synthetic Mesh for Treatment of Paraesophageal HerniaRecruitingNCT02242526Phase 4
3Phase IV Study of the Impact of Dietary Fibers on Symptoms and Esophageal Motility in Patients With Non-erosive GERDRecruitingNCT01882088Phase 4
4Transoral Incisionless Fundoplication (TIF) Registry Study for Treatment of Gastroesophageal Reflux Disease (GERD)Active, not recruitingNCT01118585Phase 4
5Transoral Incisionless Fundoplication (TIF) Versus Sham for Treatment of Gastroesophageal Reflux Disease (GERD)Active, not recruitingNCT01110811Phase 4
6Chronic Sildenafil for Severe Diaphragmatic HerniaTerminatedNCT00133679Phase 4
7Retrospective Transoral Incisionless Fundoplication (TIF) Study for Treatment of Gastroesophageal Reflux Disease (GERD). The RetroTIF StudyTerminatedNCT01327963Phase 4
8Randomized EsophyX Versus Sham / Placebo Controlled TIF Trial: The RESPECT StudyCompletedNCT01136980Phase 3
9Tracheal Occlusion To Accelerate Lung Growth (TOTAL) Trial for Severe Pulmonary HypoplasiaRecruitingNCT01240057Phase 2, Phase 3
10Rectal and Oral Omeprazole Treatment of Reflux Disease in Infants.RecruitingNCT00226044Phase 3
11Laparoscopic Repair of Giant Hiatal Hernias With Nitinol-framed Lightweight Polytetrafluoroethylene MeshActive, not recruitingNCT01780285Phase 3
12Laparoscopic Lightweight Mesh Repair of Large Hiatal HerniasActive, not recruitingNCT01408108Phase 3
13Usage of Biological Patch Versus Plastic in the Laparoscopic Repair of Hiatal HerniasActive, not recruitingNCT02328248Phase 2, Phase 3
14Type of Material in Repair of Congenital Diaphragmatic HerniaTerminatedNCT00257946Phase 3
15Fetal Tracheal Occlusion in Severe Diaphragmatic Hernia: a Randomized TrialRecruitingNCT01302977Phase 2
16Fetoscopic Tracheal Balloon Occlusion in Left Diaphragmatic HerniaRecruitingNCT00373438Phase 2
17Percutaneous Endoscopic Tracheal Plug/Unplug for CDHActive, not recruitingNCT00768703Phase 1, Phase 2
18"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
19Early FETO for Severe Congenital Diaphragmatic HerniaNot yet recruitingNCT01731509Phase 2
20Fetal Tracheal Balloon Study in Diaphragmatic HerniaTerminatedNCT00966823Phase 2
21Evaluation of the Safety and Effectiveness of Tailored Transoral Incisionless Fundoplication (TIF) Using EsophyX for the Treatment of GERDWithdrawnNCT01025739Phase 2
22Airway Inflammation in Congenital Diaphragmatic Hernia PatientsCompletedNCT02453750
23Early Childhood Follow-up of Congenital Diaphragmatic Hernia SurvivorsCompletedNCT01029665
24Inflammatory Cytokine Quantification in InfantsCompletedNCT01155830
25Study in Children With the Diagnosis of CDH and EACompletedNCT02466451
26Antibody Secreting Cell and Cyotokine Profiles in Neonates on ECMOCompletedNCT00371241
27Genetic Analysis of Fraser Syndrome and Fryns SyndromeCompletedNCT00032877
28Determination of Lysine Requirement in the Parenterally Fed NeonateCompletedNCT00779753
29PREMAPIV : Intravesical Pressure Variation at Different Bladder Instillation Volumes in Newborn ChildrenCompletedNCT01296724
30Short Esophagus in Type II-IV Hiatus HerniaCompletedNCT01587859
31Use of Strattice Mesh in Paraesophageal Hernia SurgeryCompletedNCT01678157
32Randomized, Prospective Controlled Trial of Paraesophageal Hernia Repair With Small Intestinal Submucosa (SIS)CompletedNCT00272922
33Follow-up of Patients Operated Upon for Type II-IV Hiatal HerniaCompletedNCT01606449
34Necessity of Esophageal Dissection During Laparoscopic FundoplicationCompletedNCT00287612
35Laparoscopy Versus Clinical Follow up to Detect Diaphragm InjuryCompletedNCT01044550
36Prospective Study of Ventral Hernia RepairCompletedNCT00894582
37Minimally Invasive Collis-Nissen for the Treatment of Short EsophagusCompletedNCT02288988
38Prospective Randomized Trial Evaluating the Utility of Esophageal Stitches During Laparoscopic FundoplicationCompletedNCT01509352
39Diaphragmatic Hernia Research & Exploration, Advancing Molecular ScienceRecruitingNCT00950118
40Gene Mutations and Rescue in Human Congenital Diaphragmatic HerniaRecruitingNCT01098929
41Fetal Endotracheal Occlusion (FETO) in Severe and Extremely Severe Congenital Diaphragmatic HerniaRecruitingNCT00881660
42Open or Keyhole Surgery Through the Chest for Newborn Babies: Effect on Blood GasesRecruitingNCT01467245
43Randomized 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
44Fetoscopic Endoluminal Tracheal Occlusion in Severe Left Congenital Diaphragmatic HerniaRecruitingNCT02549820
45Trial of Fetoscopic Endoluminal Tracheal Occlusion (FETO)RecruitingNCT02530073
46Fetoscopic Endoluminal Tracheal Occlusion (FETO) for Congenital Diaphragm HerniaRecruitingNCT02596802
47Genetic Basis of Non Syndromic Congenital Diaphragmatic HerniaRecruitingNCT02175264
48Genetic Analysis of Congenital Diaphragmatic DisordersRecruitingNCT01243229
49Pregnancy Environment and Newborn MalformationsRecruitingNCT01613638
50Circulatory Changes During Venovenous (VV)- and Venoarterial (VA) Extracorporeal Membrane Oxygenation (ECMO)RecruitingNCT00622492

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 24

Anatomical Context for Congenital Diaphragmatic Hernia

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MalaCards organs/tissues related to Congenital Diaphragmatic Hernia:

33
Lung, Heart, Fetal lung, Liver, Endothelial, Thyroid, Kidney

Animal Models for Congenital Diaphragmatic Hernia or affiliated genes

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MGI Mouse Phenotypes related to Congenital Diaphragmatic Hernia:

38 (show all 19)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.6ALDH1A2, EDNRA, EFNB1, LRP2, NIPBL
2MP:00053719.3ALDH1A2, EFNB1, FREM1, GATA6, NIPBL, PORCN
3MP:00030129.2EFNB1, GATA4, LRP2, NKX2-1, NR2F2, SFTPC
4MP:00053819.0EDNRA, EFNB1, FREM1, GATA4, LRP2, NKX2-1
5MP:00053829.0ALDH1A2, EDNRA, EFNB1, FREM1, LRP2, NIPBL
6MP:00028738.8ALDH1A2, EDNRA, FREM1, GATA4, GATA6, HCCS
7MP:00053918.7ALDH1A2, EFNB1, FREM1, LRP2, NIPBL, NR2F2
8MP:00053698.6ALDH1A2, EDNRA, ELN, FREM1, GATA4, GATA6
9MP:00053908.4ALDH1A2, EDNRA, EFNB1, ELN, FREM1, GATA4
10MP:00053848.3ALDH1A2, EFNB1, GATA4, GATA6, HCCS, LRP2
11MP:00053808.3ALDH1A2, EDNRA, EFNB1, GATA4, GATA6, HCCS
12MP:00053858.0ALDH1A2, EDNRA, ELN, GATA4, GATA6, HCCS
13MP:00053887.8ALDH1A2, EDNRA, EFNB1, ELN, FREM1, GATA4
14MP:00053897.8EFNB1, FREM1, GATA4, LRP2, NKX2-1, NR2F2
15MP:00036317.4ALDH1A2, EDNRA, EFNB1, FREM1, GATA4, HOMER2
16MP:00053797.4ALDH1A2, EDNRA, EFNB1, FREM1, GATA4, HOMER2
17MP:00053767.4ALDH1A2, EDNRA, EFNB1, ELN, GATA4, GATA6
18MP:00053787.3ALDH1A2, EFNB1, FREM1, GATA4, GATA6, HCCS
19MP:00107686.5ALDH1A2, EDNRA, EFNB1, ELN, FREM1, GATA4

Publications for Congenital Diaphragmatic Hernia

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Articles related to Congenital Diaphragmatic Hernia:

(show top 50)    (show all 660)
idTitleAuthorsYear
1
Pulmonary capillary hemangiomatosis in a neonate with congenital diaphragmatic hernia. (25678439)
2015
2
Short-Term Outcomes and Medical and Surgical Interventions in Infants with Congenital Diaphragmatic Hernia. (25825963)
2015
3
Management of congenital diaphragmatic hernia: a systematic review from the APSA outcomes and evidence based practice committee. (26463502)
2015
4
Improved mortality rate for congenital diaphragmatic hernia in the modern era of management: 15year experience in a single institution. (25840055)
2015
5
Neurodevelopmental outcome at one year of age in congenital diaphragmatic hernia infants not treated with extracorporeal membrane oxygenation. (25818204)
2015
6
Minimally invasive surgery for congenital diaphragmatic hernia: a meta-analysis. (26438082)
2015
7
A 22-Week-Old Fetus with Nager Syndrome and Congenital Diaphragmatic Hernia due to a Novel SF3B4 Mutation. (25337072)
2014
8
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
9
Liquid ventilation in congenital diaphragmatic hernia: back on stage?*. (25370065)
2014
10
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
11
Atypical presentation of congenital diaphragmatic hernia. (25378787)
2014
12
Splenic torsion after congenital diaphragmatic hernia repair: case report and review of the literature. (23480945)
2013
13
Fetal production of growth factors and inflammatory mediators predicts pulmonary hypertension in congenital diaphragmatic hernia. (23770923)
2013
14
Minimally invasive surgery in infants with congenital diaphragmatic hernia: outcome and selection criteria. (23908966)
2013
15
Cord blood endothelial colony-forming cells from newborns with congenital diaphragmatic hernia. (23684109)
2013
16
Decreased apelin and apelin-receptor expression in the pulmonary vasculature of nitrofen-induced congenital diaphragmatic hernia. (24363088)
2013
17
Long-term maturation of congenital diaphragmatic hernia treatment results: toward development of a severity-specific treatment algorithm. (23989050)
2013
18
Pulmonary support on day 30 as a predictor of morbidity and mortality in congenital diaphragmatic hernia. (23845605)
2013
19
Enteric Nervous System and Esophageal-Gastrointestinal Motility in Experimental Congenital Diaphragmatic Hernia. (23686664)
2013
20
Late-presenting congenital diaphragmatic hernia in children: the experience of single institution in Korea. (23918563)
2013
21
Advances in prenatal diagnosis and treatment of congenital diaphragmatic hernia. (22682380)
2012
22
Influence of gender on mortality and need for extracorporeal membrane oxygenation in neonates with congenital diaphragmatic hernia. (22523303)
2012
23
Congenital diaphragmatic hernia. (23114974)
2012
24
Stabilisation of cardiopulmonary function in newborns with congenital diaphragmatic hernia using lung function parameters and hemodynamic management. (22782443)
2012
25
Terlipressin as rescue therapy for refractory pulmonary hypertension in a neonate with a congenital diaphragmatic hernia. (21292065)
2011
26
Pulmonary development considerations in the surgical management of congenital diaphragmatic hernia. (21920679)
2011
27
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
28
Echocardiographic measures of ventricular function and pulmonary artery size: prognostic markers of congenital diaphragmatic hernia? (21311494)
2011
29
Intravesical pressure: A new prognostic indicator in congenital diaphragmatic hernia. (22121309)
2011
30
Influence of fetal stabilization on postnatal status of patients with congenital diaphragmatic hernia. (20842386)
2011
31
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
32
Bronchopulmonary innervation defects in infants and rats with congenital diaphragmatic hernia. (20152352)
2010
33
Learning curve for lung area to head circumference ratio measurement in fetuses with congenital diaphragmatic hernia. (20131334)
2010
34
Mortality in infants with congenital diaphragmatic hernia: a study of the United States National Database. (20147959)
2010
35
Adrenal insufficiency in newborns with congenital diaphragmatic hernia. (20056240)
2010
36
Congenital diaphragmatic hernia in Lowe syndrome: a rare association? (20823704)
2010
37
Management of prenatally diagnosed congenital diaphragmatic hernia. (19884051)
2010
38
Thoracoscopic treatment of chylothorax after patch repair of congenital diaphragmatic hernia. (20713234)
2010
39
Perforated ulcer mimicking a spontaneous pneumothorax in a patient with congenital diaphragmatic hernia. (19385305)
2009
40
Tracheal occlusion for fetal congenital diaphragmatic hernia: the US experience. (19559324)
2009
41
Congenital diaphragmatic hernia: outcome review of 2,173 surgical repairs in US infants. (19727769)
2009
42
Pleural and pericardial effusion: a potential ultrasonographic marker for the prenatal differential diagnosis between congenital diaphragmatic eventration and congenital diaphragmatic hernia. (17366518)
2007
43
Pulmonary hypertension in human newborns with congenital diaphragmatic hernia is associated with decreased vascular expression of nitric-oxide synthase. (16456243)
2006
44
Congenital diaphragmatic hernia associated with esophageal atresia, tracheoesophageal fistula, and truncus arteriosus in a premature newborn. (15933889)
2005
45
Congenital diaphragmatic hernia: 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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Clinvar genetic disease variations for Congenital Diaphragmatic Hernia:

5
id Gene Variation Type Significance SNP ID Assembly Location
1GATA6NM_005257.5(GATA6): c.712G> T (p.Gly238Ter)single nucleotide variantPathogenicrs587777710GRCh37Chr 18, 19751817: 19751817
2GATA6NM_005257.5(GATA6): c.1366C> T (p.Arg456Cys)single nucleotide variantPathogenicrs387906818GRCh37Chr 18, 19761477: 19761477
3ZFPM2NM_012082.3(ZFPM2): c.89A> G (p.Glu30Gly)single nucleotide variantPathogenicrs121908601GRCh37Chr 8, 106431420: 106431420
4ZFPM2NM_012082.3(ZFPM2): c.334C> T (p.Arg112Ter)single nucleotide variantPathogenicrs121908602GRCh37Chr 8, 106573623: 106573623
5NM_012082.3(ZFPM2): c.2107A> C (p.Met703Leu)single nucleotide variantPathogenicrs121908603GRCh37Chr 8, 106814417: 106814417
6NM_012082.3(ZFPM2): c.2527A> G (p.Thr843Ala)single nucleotide variantPathogenicrs121908604GRCh37Chr 8, 106814837: 106814837

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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GO Terms for genes affiliated with Congenital Diaphragmatic Hernia

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Cellular components related to Congenital Diaphragmatic Hernia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1alveolar lamellar bodyGO:009720810.2SFTPB, SFTPC
2multivesicular body lumenGO:009748610.2SFTPB, SFTPC
3clathrin-coated endocytic vesicleGO:004533410.2SFTPB, SFTPC
4multivesicular bodyGO:000577110.0SFTPB, SFTPC
5lamellar bodyGO:00425999.7SFTPB, SFTPC

Biological processes related to Congenital Diaphragmatic Hernia according to GeneCards Suite gene sharing:

(show all 37)
idNameGO IDScoreTop Affiliating Genes
1Clara cell differentiationGO:006048610.9GATA6, NKX2-1
2negative regulation of female gonad developmentGO:200019510.9WT1, ZFPM2
3lung saccule developmentGO:006043010.8GATA6, NKX2-1
4Type II pneumocyte differentiationGO:006051010.8GATA6, NKX2-1
5outflow tract septum morphogenesisGO:000314810.8GATA6, ZFPM2
6positive regulation of cardiac muscle cell proliferationGO:006004510.8GATA4, GATA6
7positive regulation of cardioblast differentiationGO:005189110.8GATA4, GATA6
8response to growth factorGO:007084810.7GATA6, SFTPC
9tube morphogenesisGO:003523910.7GATA4, GATA6
10seminiferous tubule developmentGO:007252010.7GATA4, WT1
11cardiac muscle hypertrophy in response to stressGO:001489810.7GATA4, GATA6
12diaphragm developmentGO:006053910.7STRA6, WT1
13intestinal epithelial cell differentiationGO:006057510.7GATA4, GATA6
14cellular response to gonadotropin stimulusGO:007137110.7GATA4, GATA6, WT1
15neural crest cell developmentGO:001403210.7ALDH1A2, EDNRA
16head developmentGO:006032210.6EDNRA, STRA6
17ventricular septum developmentGO:000328110.5GATA4, STRA6
18embryonic digestive tract morphogenesisGO:004855710.5GATA4, NIPBL
19retinoic acid metabolic processGO:004257310.5ALDH1A2, STRA6
20uterus morphogenesisGO:006103810.5NIPBL, STRA6
21embryonic digestive tract developmentGO:004856610.5ALDH1A2, STRA6
22cardiac muscle tissue developmentGO:004873810.4ALDH1A2, GATA4, GATA6, ZFPM2
23kidney developmentGO:000182210.2ALDH1A2, STRA6, WT1
24positive regulation of male gonad developmentGO:200002010.1WT1, ZFPM2
25lung developmentGO:003032410.1ALDH1A2, NKX2-1, STRA6, ZFPM2
26forebrain developmentGO:003090010.0ALDH1A2, LRP2, NKX2-1, NR2F2
27response to vitamin AGO:003318910.0ALDH1A2, GATA4, SFTPC
28in utero embryonic developmentGO:00017019.9EDNRA, GATA4, GATA6, NR2F2, ZFPM2
29respiratory gaseous exchangeGO:00075859.9EDNRA, ELN, SFTPB, SFTPC
30organ morphogenesisGO:00098879.9ELN, HCCS, NKX2-1, SFTPB
31male gonad developmentGO:00085849.9GATA4, GATA6, WT1
32positive regulation of transcription, DNA-templatedGO:00458939.8GATA4, GATA6, NKX2-1, NR2F2, WT1, ZFPM2
33heart morphogenesisGO:00030079.8ALDH1A2, GATA4, NIPBL
34negative regulation of transcription, DNA-templatedGO:00458929.3GATA6, NIPBL, NKX2-1, NR2F2, WT1, ZFPM2
35negative regulation of transcription from RNA polymerase II promoterGO:00001229.2GATA6, NIPBL, NKX2-1, NR2F2, WT1, ZFPM2
36heart developmentGO:00075079.1EDNRA, GATA4, NIPBL, STRA6, WT1, ZFPM2
37positive regulation of transcription from RNA polymerase II promoterGO:00459448.9GATA4, GATA6, NIPBL, NKX2-1, WT1, ZFPM2

Molecular functions related to Congenital Diaphragmatic Hernia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II transcription factor bindingGO:000108510.4GATA4, GATA6, ZFPM2
2transcription factor activity, RNA polymerase II distal enhancer sequence-specific bindingGO:000370510.3GATA4, GATA6, NKX2-1
3transcription regulatory region DNA bindingGO:00442129.8GATA4, GATA6, NKX2-1, WT1
4sequence-specific DNA bindingGO:00435659.6GATA4, GATA6, NKX2-1, NR2F2, WT1

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