CDH
MCID: CNG015
MIFTS: 60

Congenital Diaphragmatic Hernia (CDH) malady

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

Aliases & Classifications for Congenital Diaphragmatic Hernia

About this section
Sources:
11Disease Ontology, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 27GTR, 30ICD10, 31ICD10 via Orphanet, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 50Novoseek, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Congenital Diaphragmatic Hernia:

Name: Congenital Diaphragmatic Hernia 11 23 48 24 25 54 27 13
Cdh 48 24 54
Congenital Diaphragmatic Defect 48 25
Diaphragmatic Hernia 11 13
Unilateral Agenesis of Diaphragm 48
 
Hernia Diaphragmatic Congenital 50
Agenesis of Hemidiaphragm 48
Hernia, Diaphragmatic 39
Hernia Diaphragmatic 50

Characteristics:

Orphanet epidemiological data:

54
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:

64

Classifications:



External Ids:

Disease Ontology11 DOID:3827
MeSH39 D006548
NCIt45 C34687
Orphanet54 ORPHA2140
MESH via Orphanet40 C538080
UMLS via Orphanet69 C0235833
ICD10 via Orphanet31 Q79.0

Summaries for Congenital Diaphragmatic Hernia

About this section
NIH Rare Diseases:48 Congenital diaphragmatic hernia (cdh) is a condition present before birth characterized by abnormal development of the diaphragm. the diaphragm normally separates the organs in the abdomen from those in the chest. the severity of cdh may range from a thinned area in part of the diaphragm, to its complete absence. cdh may allow the stomach and intestines to move through an opening (hernia) into the chest cavity, crowding the heart and lungs. this can then lead to underdevelopment of the lungs (pulmonary hypoplasia), which may cause life-threatening complications. cdh may be associated with several syndromes (some caused by genetic mutations or a chromosome abnormality), it may be associated with other birth defects, or it may occur with no other abnormalities. it is rarely inherited. treatment options depend on the type and severity of the defect and typically include surgery. prenatal diagnosis and medical advances have increased the survival rate, but various long-term complications affecting health and development may occur. last updated: 3/6/2017

MalaCards based summary: Congenital Diaphragmatic Hernia, also known as CDH, is related to imperforate anus and dih1-related congenital diaphragmatic hernia, and has symptoms including Array and congenital diaphragmatic hernia. An important gene associated with Congenital Diaphragmatic Hernia is GATA6 (GATA Binding Protein 6), and among its related pathways are Surfactant metabolism and Lung fibrosis. Affiliated tissues include lung, heart and fetal lung, and related mouse phenotypes are muscle and craniofacial.

Genetics Home Reference:25 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.

Disease Ontology:11 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.

Wikipedia:71 Congenital diaphragmatic hernia (CDH) is a birth defect of the diaphragm. The most common type of CDH is... more...

GeneReviews for NBK1359

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 132)
idRelated DiseaseScoreTop Affiliating Genes
1imperforate anus29.1ALDH1A2, EFNB1, FREM1, GATA4, LRP2, NR2F2
2dih1-related congenital diaphragmatic hernia12.0
3fryns syndrome11.4
4hiatus hernia11.3
5craniofacial-deafness-hand syndrome11.1
6donnai-barrow syndrome11.0
7pulmonary hypertension, neonatal11.0
8diaphragmatic hernia 311.0
9pulmonary hypertension10.4
10esophagitis10.4
11persistent eustachian valve10.3GATA4, GATA6
12esophageal atresia10.3
13ectodermal dysplasia with natal teeth, turnpenny type10.3SFTPB, SFTPC
14mediastinum seminoma10.3SFTPC, WT1
15congenital benign spinal muscular atrophy dominant10.3GATA4, GATA6, NR2F2
16ichthyosis10.3GATA4, GATA6, ZFPM2
17pauciarticular chronic arthritis10.3GATA4, GATA6, NR2F2
18osteochondritis dissecans10.2NKX2-1, SFTPB, SFTPC
19malignant pineal area germ cell neoplasm10.2GATA4, GATA6, ZFPM2
20common wart10.2SFTPB, SFTPC
21dentine erosion10.2GATA4, GATA6, NKX2-1
22trichodental syndrome10.2GATA4, GATA6, NR2F2, ZFPM2
23hypogonadotropic hypogonadism 12 with or without anosmia10.2GATA4, GATA6, ZFPM2
24villous adenocarcinoma10.2NKX2-1, SFTPB
25partial fetal alcohol syndrome10.2EDN1, GATA4, GATA6
26back pain10.2SFTPB, SFTPC
27renal pelvis adenocarcinoma10.2SFTPC, WT1
28pulmonary fibrosis and/or bone marrow failure, telomere-related, 110.2NKX2-1, SFTPB, SFTPC
29endotheliitis10.2
30acute closed-angle glaucoma10.1EDN1, GATA6, SFTPB
31anogenital venereal wart10.1EDN1, NKX2-1, SFTPB, SFTPC
32nervous system cancer10.1EDN1, NKX2-1, SFTPB, SFTPC
33hepatitis10.1
34omphalocele10.1
35ceroid lipofuscinosis, neuronal, 810.1EDN1, GATA4, GATA6, ZFPM2
36gastroschisis10.1
37thyroiditis10.1
38pulmonary sequestration10.1
39tracheoesophageal fistula10.1
40agenesis and aplasia of uterine body10.1NKX2-1, SFTPB
41subcorneal pustular dermatosis10.1EDN1, ELN, NKX2-1, SFTPB, SFTPC
42wolf-hirschhorn syndrome10.0
43diaphragmatic eventration10.0
44polyhydramnios10.0
45lung disease10.0
46aortic aneurysm, familial thoracic 610.0EDN1, FGF7, SFTPB, SFTPC
47tetralogy of fallot10.0
48gastroesophageal reflux10.0
49intestinal obstruction10.0
50transposition of the great arteries10.0

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



Diseases related to congenital diaphragmatic hernia

Symptoms & Phenotypes for Congenital Diaphragmatic Hernia

About this section

Human phenotypes related to Congenital Diaphragmatic Hernia:

 54 64
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 congenital diaphragmatic hernia64 54 Very frequent (99-80%) HP:0000776

MGI Mouse Phenotypes related to Congenital Diaphragmatic Hernia according to GeneCards Suite gene sharing:

41 (show all 18)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053699.1ALDH1A2, EDN1, FREM1, GATA4, GATA6, NR2F2
2MP:00053829.0ALDH1A2, EDN1, EFNB1, FREM1, LRP2, NIPBL
3MP:00053679.0ALDH1A2, EDN1, FGF7, FREM1, LRP2, PORCN
4MP:00053718.9ALDH1A2, EFNB1, FREM1, GATA4, GATA6, LRP2
5MP:00030128.7EFNB1, GATA4, LRP2, NKX2-1, NR2F2, SFTPC
6MP:00053818.7EDN1, EFNB1, FREM1, GATA4, LRP2, NKX2-1
7MP:00053918.6ALDH1A2, EFNB1, FGF7, FREM1, LRP2, NIPBL
8MP:00028738.5ALDH1A2, EDN1, FREM1, GATA4, GATA6, NIPBL
9MP:00053808.4ALDH1A2, EDN1, EFNB1, GATA4, GATA6, LRP2
10MP:00053888.4ALDH1A2, EFNB1, FREM1, GATA4, GATA6, LRP2
11MP:00053858.1ALDH1A2, EDN1, GATA4, GATA6, LRP2, NIPBL
12MP:00053898.0EFNB1, FGF7, FREM1, GATA4, GATA6, LRP2
13MP:00053768.0ALDH1A2, EDN1, EFNB1, FGF7, GATA4, GATA6
14MP:00053908.0ALDH1A2, EDN1, EFNB1, FGF7, FREM1, GATA4
15MP:00053797.5ALDH1A2, EDN1, EFNB1, FREM1, GATA4, HOMER2
16MP:00107687.2ALDH1A2, EDN1, EFNB1, FREM1, GATA4, GATA6
17MP:00053787.2ALDH1A2, EDN1, EFNB1, FGF7, FREM1, GATA4
18MP:00036317.0ALDH1A2, EDN1, EFNB1, FGF7, FREM1, GATA4

Drugs & Therapeutics for Congenital Diaphragmatic Hernia

About this section

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

(show all 46)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Nitric OxideapprovedPhase 461710102-43-9145068
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)
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 4, Phase 23543
3Phosphodiesterase InhibitorsPhase 4, Phase 21289
4Phosphodiesterase 5 InhibitorsPhase 4589
5Sildenafil CitratePhase 4331171599-83-0
6CitrateNutraceuticalPhase 41160
7
Citric Acidnutraceutical, vet_approvedPhase 4116077-92-9311
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
8
Omeprazoleapproved, investigational, vet_approvedPhase 334873590-58-64594
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
Belmazol
Bio-0888
C07324
CAS-73590-58-6
CCRIS 7099
CHEBI:519601
CHEBI:7772
CHEMBL1503
CID4594
CPD000058847
Ceprandal
D00455
DB00338
DB00736
DM-3458
Danlox
Demeprazol
Desec
Dizprazol
Dudencer
Elgam
Emeproton
Emilok
Epirazole
Erbolin
Esomeprazole
Esomperazole
Esopral
Exter
Gasec
Gastrimut
Gastroloc
Gibancer
H 168-68
H 168/68
H-168/68
H168/68
HMS1528I05
HMS1569D07
HMS2052G17
HMS2090E16
HMS2090F11
HSDB 3575
I06-0705
IDI1_032523
Indurgan
Inhibitron
Inhipump
LS-7629
Lensor
Logastric
Lomac
Losec
Losec, Omesec, Prilosec, Zegerid, Omeprazole
Lucen
MLS000069373
MLS001076112
MLS001424148
Maybridge4_002645
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
Olexin
Olit
Omapren
Omebeta
Omebeta 20
Omed
Omegast
Omepradex
Omepral
Omeprazol
Omeprazol [INN-Spanish]
Omeprazole
Omeprazole (JAN/USP/INN)
Omeprazole Pellets
Omeprazole [USAN:INN:BAN:JAN]
Omeprazole delayed-release
Omeprazole magnesium
Omeprazolum
Omeprazolum [INN-Latin]
Omeprazon
Omeprazone
Omeprol
Omesek
Omez
Omezol
Omezolan
Omid
Omisec
Omizac
Ompanyt
Ortanol
Osiren
Ozoken
Paprazol
Parizac
Pepticum
Pepticus
Peptilcer
Prazentol
Prazidec
Prazolit
Prestwick0_000493
Prestwick1_000493
Prestwick2_000493
Prestwick3_000493
Prestwick_808
Prilosec
Prilosec (TN)
Prilosec OTC
Procelac
Proclor
Prysma
Ramezol
Regulacid
Result
S1389_Selleck
SAM001246900
SAN-15
SMR000058847
SPBio_002306
STK623746
Sanamidol
Secrepina
TL8005099
Tedec Ulceral
UNII-KG60484QX9
UPCMLD-DP075
UPCMLD-DP075:001
Ulceral
Ulcesep
Ulcometion
Ulcozol
Ulcsep
Ulsen
Ultop
Ulzol
Victrix
Zefxon
Zegerid
Zepral
Zimor
Zoltum
esomeprazol
omeprazole
9
Proton pump inhibitorsPhase 31123
Synonyms:
 
PPIs
10AntacidsPhase 31842
11Gastrointestinal AgentsPhase 38402
12Anti-Ulcer AgentsPhase 31842
13
MilrinoneapprovedPhase 23578415-72-24197
Synonyms:
-bipyridine)-5-carbonitrile
1,6-Dihydro-2-methyl-6-oxo(3,4'-bipyridine)-5-carbonitrile
1,6-Dihydro-2-methyl-6-oxo-(3,4&prime
1,6-Dihydro-2-methyl-6-oxo-(3,4'-bipyridine)-5-carbonitrile
1,6-Dihydro-2-methyl-6-oxo-3,4-bipyridine-5-carbonitrile
1,6-Dihydro-2-methyl-6-oxo-[3,4'-bipyridine]-5-carbonitrile
111GE027
2-methyl-6-oxo-1,6-dihydro-3,4'-bipyridine-5-carbonitrile
3-Cyano-6-methyl-5-(4-pyridyl)-2-pyridone
6-Methyl-5-(4-pyridyl)-2-pyridone-3-carbonitrile
6-methyl-2-oxo-5-pyridin-4-yl-1H-pyridine-3-carbonitrile
78415-72-2
AB00514027
AC-4730
AC1L1HMP
AC1Q2EBX
BIDD:GT0197
BPBio1_001156
BRN 3546821
BSPBio_001050
C07224
C12H9N3O
CAS-78415-72-2
CCRIS 3795
CHEBI:50693
CHEMBL189
CID4197
CPD000058475
Corotrop
Corotrope
D00417
DB00235
EINECS 278-903-6
EN002063
EU-0100737
HMS1571E12
HMS2051L10
HMS2090J14
I06-0259
LS-44610
Lopac-M-4659
Lopac0_000737
 
M 4659
M1663
M4659_SIGMA
MILRINONE LACTATE IN DEXTROSE 5% IN PLASTIC CONTAINER
MLS000028818
MLS001424052
Milrila
Milrila (TN)
Milrinona
Milrinona [Spanish]
Milrinone
Milrinone (JAN/USAN/INN)
Milrinone Lactate
Milrinone [USAN:BAN:INN]
Milrinonum
Milrinonum [Latin]
NCGC00015675-01
NCGC00015675-02
NCGC00015675-04
NCGC00015675-07
NCGC00025189-01
NCGC00025189-02
NCGC00025189-03
NCGC00164390-01
PRIMACOR IN DEXTROSE 5% IN PLASTIC CONTAINER
Prestwick0_001065
Prestwick1_001065
Prestwick2_001065
Prestwick3_001065
Primacor
S2484_Selleck
SAM001246611
SBB055743
SMR000058475
SPBio_002965
Tocris-1504
UNII-JU9YAX04C7
WIN 47203-2
Win-47203
Win-47203-2
YM 018
ZINC09224016
milrinone
14AnestheticsPhase 29596
15Protective AgentsPhase 27443
16Phosphodiesterase 3 InhibitorsPhase 2133
17Platelet Aggregation InhibitorsPhase 22516
18
Epinephrineapproved, vet_approved98551-43-45816
Synonyms:
(-)-(R)-Epinephrine
(-)-3,4-Dihydroxy-a-[2-(methylamino)ethyl]benzyl alcohol
(-)-3,4-Dihydroxy-alpha-((methylamino)methyl)benzyl alcohol
(-)-3,4-Dihydroxy-alpha-[2-(methylamino)ethyl]benzyl alcohol
(-)-3,4-dihydroxy-a-[(methylamino)methyl]-Benzyl alcohol
(-)-3,4-dihydroxy-alpha-[(methylamino)methyl]-Benzyl alcohol
(-)-Adrenalin
(-)-Adrenaline
(-)-Epinephrine
(-)-R-Epinephrine
(R)-(-)-Adnephrine
(R)-(-)-Adrenaline
(R)-(-)-Epinephrine
(R)-(-)-Epirenamine
(R)-(−)-adrenaline
(R)-4-[1-Hydroxy-2-(methylamino)ethyl]-1,2-benzenediol
(R)-4-[1-hydroxy-2-(methylamino)ethyl]-1,2-Benzenediol
(R)-Adrenaline
(R)-Epinephrine
(−)-adrenaline
02252_FLUKA
1-1-(3,4-Dihydroxyphenyl)-2-methylaminoethanol
1-Adrenalin
1-Epinephrine
4-(1-Hydroxy-2-(methylamino)ethyl)-1,2-benzenediol
4-(1-hydroxy-2-methylamino-ethyl)benzene-1,2-diol
4-[(1R)-1-Hydroxy-2-(methylamino)ethyl]-1,2-Benzenediol
4-[(1R)-1-Hydroxy-2-(methylamino)ethyl]-1,2-benzenediol
4-[(1R)-1-hydroxy-2-(methylamino)ethyl]benzene-1,2-diol
51-43-4
51-43-4 (FREE BASE)
51028-73-0
A0173
AC-13188
AC1L1L7B
ADR ADRENALINE
ADROP
AI3-19015
Adnephrine
Adrenal
Adrenalin
Adrenalin (TN)
Adrenalin in Oil
Adrenalin-Medihaler
Adrenalina
Adrenalina [DCIT]
Adrenaline
Adrenaline (JP15)
Adrenaline/Epinephrine
Adrenalinum
Adrenamine
Adrenan
Adrenapax
Adrenasol
Adrenatrate
Adrenine
Adrenodis
Adrenohorma
Adrenosan
Adrenutol
Adrin
Adrine
Ana-Guard
Ana-Kit
Antiasthmatique
Asmatane Mist
Asthma meter mist
Asthma-nefrin
Asthmahaler Mist
Asthmanefrin
Astmahalin
Astminhal
BIDD:GT0119
Balmadren
Bernarenin
Biorenine
Bosmin
Brevirenin
Bronkaid
Bronkaid Mist
Bronkaid Suspension Mist
Bupivacaine Hcl and Epinephrine
C00788
CCRIS 4812
CHEBI:28918
CHEMBL679
CID5816
Chelafrin
Citanest Forte
Corisol
D-Epifrin
D-Epinephrine
D00095
DB00668
Drenamist
Dylephrin
Dyspne-Inhal
E4250_SIGMA
EINECS 200-098-7
EPI E Z PEN JR
EPIPEN E Z PEN
EPIPEN JR
Epi EZ Pen Jr
Epifrin
Epiglaufrin
Epinefrin
Epinefrin [Czech]
Epinefrina
Epinefrina [INN-Spanish]
Epinephran
Epinephrin
Epinephrine
Epinephrine (USP)
Epinephrine (USP/INN)
Epinephrine [USAN:INN:JAN]
Epinephrine hydrochloride
Epinephrinum
Epinephrinum [INN-Latin]
Epipen
Epipen (TN)
Epipen Auto-Injector
Epipen EZ Pen
Epipen Jr.
Epipen Jr. Auto-Injector
Epirenamine
Epirenan
Epirenin
Epitrate
Eppy
Esphygmogenina
Exadrin
 
Glaucon
Glaucosan
Glauposine
Glycirenan
HSCI1_000215
HSDB 4289
Haemostasin
Haemostatin
Hektalin
Hemisine
Hemostasin
Hemostatin
Hypernephrin
Hyporenin
IOP
Intranefrin
Iontocaine
Isoptoepinal
Kidoline
L-1-(3,4-Dihydroxyphenyl)-2-methylaminoethanol
L-Adrenaline
L-Adrenaline Base
L-Epinehphrine
L-Epinephrine
L-Epirenamine
L-Methylaminoethanolcatechol
L-epinephrine
LS-156
Levo-Methylaminoethanolcatechol
Levoadrenaline
Levoepinephrine
Levorenen
Levorenin
Levorenine
Levoreninum
Lopac-E-4642
Lyodrin
Lyophrin
Medihaler-Epi
Metanephrin
Methylaminoethanolcatechol
Methylarterenol
Micronefrin
Micronephrine
MolPort-002-051-368
Mucidrina
Myosthenine
Mytrate
NCGC00015417-01
NCGC00142615-01
NCGC00142615-03
NCGC00142615-04
NCGC00142615-05
NCGC00142615-06
NCGC00142615-07
NSC 62786
NSC62786
Nephridine
Nieraline
PDSP1_001120
PDSP2_001104
Paranephrin
Primatene
Primatene Mist
R-(-)-Epinephrine
R-Adrenaline
RCRA waste no. P042
Racemic Epinephrine
Racepinephrine
Rcra waste number P042
Renagladin
Renaglandin
Renaglandulin
Renaleptine
Renalina
Renoform
Renostypricin
Renostypticin
Renostyptin
SMP1_000227
ST069368
SUS-PHRINE SULFITE-FREE
Scurenaline
Septocaine
Simplene
Sindrenina
Soladren
Sphygmogenin
Stryptirenal
Styptirenal
Supracapsulin
Supradin
Supranefran
Supranephrane
Supranephrine
Supranol
Suprarenaline
Suprarenin
Suprel
Surenine
Surrenine
Sus-Phrine
Sus-phrine
Susphrine
Sympathin I
Takamina
Takamine
Tokamina
Tonogen
Twinject
Twinject 0.15
Twinject 0.3
Twinject 0.30
UNII-YKH834O4BH
Vaponefrin
Vasoconstrictine
Vasoconstrictor
Vasodrine
Vasoton
Vasotonin
adrenaline
bmse000316
d-Adrenaline
epinephrine
l-1-(3,4-Dihydroxyphenyl)-2-methylaminoethanol
l-Adrenalin
l-Adrenaline
l-Epinephine
l-Epinephrine (synthetic)
l-Epirenamine
l-Methylaminoethanolcatechol
levoepinephrine
nchembio747-comp9
19
Ethanolapproved213764-17-5702
Synonyms:
(C6-C9)Alkyl alcohol
02483_FLUKA
02851_FLUKA
02853_FLUKA
02854_FLUKA
02855_FLUKA
02856_FLUKA
02856_SIAL
02857_FLUKA
02857_SIAL
02858_FLUKA
02858_SIAL
02860_FLUKA
02865_FLUKA
02865_SIAL
02870_FLUKA
02870_SIAL
02875_FLUKA
02877_FLUKA
02878_FLUKA
02882_FLUKA
02882_SIAL
02883_FLUKA
02884_FLUKA
02890_FLUKA
02890_SIAL
02891_FLUKA
02891_SIAL
1-Hydroxyethane
100C.NPA
121182-78-3
187380_ALDRICH
187380_SIAL
24102_RIEDEL
24102_SIAL
24103_RIEDEL
24103_SIAL
24105_RIEDEL
24105_SIAL
24106_RIEDEL
24106_SIAL
24194_RIEDEL
24194_SIAL
245119_ALDRICH
245119_SIAL
270741_ALDRICH
270741_SIAL
277649_ALDRICH
277649_SIAL
2858_SIGMA
29221_FLUKA
32205_RIEDEL
32205_SIAL
32221_RIEDEL
32221_SIAL
32294_RIEDEL
32294_SIAL
34870_SIAL
34963_RIEDEL
39278_FLUKA
40210_ALDRICH
40210_RIEDEL
41322_FLUKA
458600_ALDRICH
458600_SIAL
459828_ALDRICH
459828_SIAL
459836_ALDRICH
459836_SIAL
459844_SIAL
48075_SUPELCO
493511_SIAL
493538_ALDRICH
493538_SIAL
493546_ALDRICH
493546_SIAL
64-17-5
676829_SIAL
68475-56-9
71076-86-3
71329-38-9
8000-16-6
8024-45-1
AC1L19TW
AC1Q31MM
AHD 2000
AI3-01706
ALCOHOL 5% IN D5-W
Absolute Alcohol
Absolute Ethanol
Absolute alcohol
Absolute ethanol
Absolute ethyl alcohol
Aethanol
Aethanol [German]
Aethylalkohol
Alcare Hand Degermer
Alcohol
Alcohol (USP)
Alcohol (ethyl)
Alcohol Anhydrous
Alcohol [USP]
Alcohol anhydrous
Alcohol dehydrated
Alcohol denatured
Alcohol etílico
Alcohol, Absolute
Alcohol, Dehydrated
Alcohol, Diluted
Alcohol, Grain
Alcohol, anhydrous
Alcohol, dehydrated
Alcohol, denatured
Alcohol, diluted
Alcohol, ethyl
Alcohols
Alcohols, C1-3
Alcohols, C30
Alcohols, C6-9
Alcool Ethylique
Alcool Etilico
Alcool ethylique
Alcool etilico
Alcool éthylique
Algrain
Alkohol
Alkohol [German]
Alkoholu Etylowego
Alkoholu etylowego
Aminoethanol
Anhydrol
Anhydrol PM 4085
Anhydrous alcohol
Anhydrous ethanol
Beta-Aminoethanol
Beta-Aminoethyl Alcohol
Beta-Ethanolamine
Beta-Hydroxyethylamine
C00469
C2H5OH
C2H6O
CCRIS 945
CDA 19
CDA 19-200
CHEBI:16236
CHEMBL545
CID702
Caswell No. 426
Caswell No. 430
Colamine
Cologne Spirit
Cologne spirit
Cologne spirits
 
D000431
D00068
DB00898
Dehydrated Ethanol
Dehydrated alcohol
Dehydrated ethanol
Denatured Alcohol
Denatured Alcohol Cd-10
Denatured Alcohol Cd-5
Denatured Alcohol Cd-5a
Denatured Alcohol Sd-1
Denatured Alcohol Sd-13a
Denatured Alcohol Sd-17
Denatured Alcohol Sd-23a
Denatured Alcohol Sd-28
Denatured Alcohol Sd-30
Denatured Alcohol Sd-39b
Denatured Alcohol Sd-39c
Denatured Alcohol Sd-3a
Denatured Alcohol Sd-40m
Denatured Ethanol
Denatured alcohol
Denatured ethanol
Desinfektol EL
Diluted Alcohol
Distilled spirits
E2385_SIGMA
E7023_ALDRICH
E7023_SIAL
E7148_ALDRICH
E7148_SIAL
E7517_SIGMA
EINECS 200-578-6
EINECS 270-649-4
EOH
EOX
ETA
Envision Conditioner Pdd 9020
Esumiru WK 88
EtOH
Etanolo
Etanolo [Italian]
Ethanol (9CI)
Ethanol 200 Proof
Ethanol 200 proof
Ethanol Absolute
Ethanol Absolute Bp
Ethanol Anhydrous
Ethanol Extra Pure
Ethanol Vapor
Ethanol [JAN]
Ethanol solution
Ethanol, Silent Spirit
Ethanol, undenatured
Ethanolum anhydricum
Ethicap
Ethyl Alcohol
Ethyl Alcohol & Water, 10%
Ethyl Alcohol & Water, 20%
Ethyl Alcohol & Water, 30%
Ethyl Alcohol & Water, 40%
Ethyl Alcohol & Water, 5%
Ethyl Alcohol & Water, 50%
Ethyl Alcohol & Water, 60%
Ethyl Alcohol & Water, 70%
Ethyl Alcohol & Water, 80%
Ethyl Alcohol & Water, 95%
Ethyl Alcohol & Water, 96%
Ethyl Alcohol Anhydrous
Ethyl Alcohol, Anhydrous
Ethyl Alcohol, Denatured
Ethyl Hydrate
Ethyl Hydroxide
Ethyl alc
Ethyl alcohol
Ethyl alcohol anhydrous
Ethyl alcohol in alcoholic beverages
Ethyl alcohol usp
Ethyl hydrate
Ethyl hydroxide
Ethylalcohol
Ethylalcohol [Dutch]
Ethylol
Ethylolamine
Ethyloxy Group
Etylowy alkohol
FEMA No. 2419
FEMA Number 2419
Fermentation alcohol
Glycinol
Grain alcohol
HSDB 531
HSDB 82
HYDROXYETHYL GROUP
Hinetoless
Hydroxyethane
I14-12648
IMS 99
Infinity Pure
Jaysol
Jaysol S
LS-1539
LTBB002977
Lux
Methylated Spirit Mineralised
Methylated spirit
Methylcarbinol
MolPort-001-785-844
Molasses alcohol
NCGC00091458-01
NCI-C03134
NSC 85228
NSC85228
Oxydimethylene Group
Potato alcohol
Punctilious ethyl alcohol
Pyro
QMHAIh@
Reagent Alcohol
Ru-Tuss Expectorant
SDA 3A
SDA 40-2
SDM No. 37
SY Fresh M
Sekundasprit
Silent spirit
Spirit
Spirits of wine
Spiritus vini
Spirt
Synasol
Tecsol
Tecsol C
Thanol
Thiofaco M-50
UNII-3K9958V90M
USAF EK-1597
Undenatured Ethanol
WLN: Q2
absolute alcohol
alcohol
alcohol etilico
bmse000297
etanol
ethanol
ethyl alcohol
grain alcohol
nchem.651-comp3c
nchembio.552-comp10
nchembio.94-comp20
spiritus vini
Äthanol
Äthylalkohol
éthanol
20
Pentobarbitalapproved, vet_approved1176-74-44737
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 [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
21Adrenergic beta-Agonists1714
22Adrenergic Agents5352
23Adrenergic Agonists3027
24Adrenergic alpha-Agonists1734
25Immunoglobulins6394
26Racepinephrine985
27Neurotransmitter Agents18340
28Mydriatics811
29
Imidacloprid187105827-78-986418
Synonyms:
(e)-imidacloprid
(z)-imidacloprid
1-((6-Chloro-3-pyridyl)methyl)-N-nitro-2-imidazolidinimine
1-(2-Chloro-5-pyridylmethyl)-2-(nitroimino)imidazolidine
1-[(6-Chloro-3-pyridinyl)methyl]-4,5-dihydro-N-nitro-1H-imidazol-2-amine, 9CI
Admire
Advantage
Advantage flea adulticide
Bayer brand of imidacloprid
 
Confidor
Confidor 200 SL
Confidor SL
Gaucho
Imidacloprid (old RN)
Imidacloprid [iso]
Merit
Merit (insecticide)
Premise 75
Provado
30Epinephryl borate985
31Respiratory System Agents4997
32Bronchodilator Agents2965
33Peripheral Nervous System Agents23689
34Autonomic Agents10150
35Anti-Asthmatic Agents3488
36Albuterol429
37Antibodies6394
38Vasoconstrictor Agents2122
39Trace Elements6001
40Vitamins5282
41Central Nervous System Depressants13403
42Pharmaceutical Solutions8192
43Micronutrients6001
44Liver Extracts4067
45lysineNutraceutical98
46threonineNutraceutical22

Interventional clinical trials:

(show top 50)    (show all 83)
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) Versus Sham for Treatment of Gastroesophageal Reflux Disease (GERD)Active, not recruitingNCT01110811Phase 4
4Chronic Sildenafil for Severe Diaphragmatic HerniaTerminatedNCT00133679Phase 4
5Rectal and Oral Omeprazole Treatment of Reflux Disease in Infants.Unknown statusNCT00226044Phase 3
6Usage of Biological Patch Versus Plastic in the Laparoscopic Repair of Hiatal HerniasUnknown statusNCT02328248Phase 2, Phase 3
7Tracheal Occlusion To Accelerate Lung Growth (TOTAL) Trial for Severe Pulmonary HypoplasiaRecruitingNCT01240057Phase 2, Phase 3
8Laparoscopic Repair of Giant Hiatal Hernias With Nitinol-framed Lightweight Polytetrafluoroethylene MeshActive, not recruitingNCT01780285Phase 3
9Laparoscopic Lightweight Mesh Repair of Large Hiatal HerniasActive, not recruitingNCT01408108Phase 3
10Type of Material in Repair of Congenital Diaphragmatic HerniaTerminatedNCT00257946Phase 3
11Early FETO for Severe Congenital Diaphragmatic HerniaUnknown statusNCT01731509Phase 2
12Fetal Tracheal Occlusion in Severe Diaphragmatic Hernia: a Randomized TrialUnknown statusNCT01302977Phase 2
13Fetoscopic Tracheal Balloon Occlusion in Left Diaphragmatic HerniaUnknown statusNCT00373438Phase 2
14"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 LaparoscopicUnknown statusNCT02137018Phase 1, Phase 2
15'TOTAL' (Tracheal Occlusion To Accelerate Lung Growth) TrialRecruitingNCT02875860Phase 2
16Percutaneous Endoscopic Tracheal Plug/Unplug for CDHActive, not recruitingNCT00768703Phase 1, Phase 2
17Milrinone in Congenital Diaphragmatic HerniaNot yet recruitingNCT02951130Phase 2
18Fetal Tracheal Balloon Study in Diaphragmatic HerniaTerminatedNCT00966823Phase 2
19Feto-Endoscopic Tracheal Occlusion (FETO) for Severe Left Congenital Diaphragmatic HerniaRecruitingNCT02986087Phase 1
20Open or Keyhole Surgery Through the Chest for Newborn Babies: Effect on Blood GasesUnknown statusNCT01467245
21Circulatory Changes During Venovenous (VV)- and Venoarterial (VA) Extracorporeal Membrane Oxygenation (ECMO)Unknown statusNCT00622492
22Metabolic Screening in Patients With Donnai-Barrow SyndromeUnknown statusNCT01509287
23Study of Paraesophageal Hernia Repair With Small Intestine SubmucosaUnknown statusNCT00786084
24Immunologic Factors in Reflux Esophagitis and Barrett’s EsophagusUnknown statusNCT00155805
25Foreshortened Esophagus and Its Surgical TherapyUnknown statusNCT00507377
26Airway Inflammation in Congenital Diaphragmatic Hernia PatientsCompletedNCT02453750
27Early Childhood Follow-up of Congenital Diaphragmatic Hernia SurvivorsCompletedNCT01029665
28Genetic Basis of Non Syndromic Congenital Diaphragmatic HerniaCompletedNCT02175264
29Study in Children With the Diagnosis of Congenital Diaphragmatic Hernia (CDH) and Oesophageal Atresia (EA)CompletedNCT02466451
30Inflammatory Cytokine Quantification in InfantsCompletedNCT01155830
31Anesthetic Management in Fetoscopic Surgery and Incidence of ComplicationsCompletedNCT02434926
32Determination of Lysine Requirement in the Parenterally Fed NeonateCompletedNCT00779753
33PREMAPIV : Intravesical Pressure Variation at Different Bladder Instillation Volumes in Newborn ChildrenCompletedNCT01296724
34Antibody Secreting Cell and Cyotokine Profiles in Neonates on ECMOCompletedNCT00371241
35Prediction of Fetal Lung MaturityCompletedNCT03159234
36Genetic Analysis of Fraser Syndrome and Fryns SyndromeCompletedNCT00032877
37Evaluation of the Follow Me Mode of the AutoLap System - A Feasibility StudyCompletedNCT02326870
38Veritas Laparoscopic Paraesophageal Hiatal Hernia (PEH) Repair Pilot TrialCompletedNCT01195545
39Short Esophagus in Type II-IV Hiatus HerniaCompletedNCT01587859
40Randomized, Prospective Controlled Trial of Paraesophageal Hernia Repair With Small Intestinal Submucosa (SIS)CompletedNCT00272922
41Use of Strattice Mesh in Paraesophageal Hernia SurgeryCompletedNCT01678157
42Laparoscopy Versus Clinical Follow up to Detect Diaphragm InjuryCompletedNCT01044550
43Follow-up of Patients Operated Upon for Type II-IV Hiatal HerniaCompletedNCT01606449
44Long-term Outcome of Laparoscopic Hiatal Hernia Repair With or Without Alloderm Mesh at a University HospitalCompletedNCT01776827
45GERD Treatment With Transoral Incisionless Fundoplication (TIF) Following Hiatal Hernia SurgeryCompletedNCT03143608
46Necessity of Esophageal Dissection During Laparoscopic FundoplicationCompletedNCT00287612
47Prospective Study of Ventral Hernia RepairCompletedNCT00894582
48Gene Mutations and Rescue in Human Congenital Diaphragmatic HerniaRecruitingNCT01098929
49Diaphragmatic Hernia Research & Exploration, Advancing Molecular ScienceRecruitingNCT00950118
50Fetal Endotracheal Occlusion (FETO) in Severe and Extremely Severe Congenital Diaphragmatic HerniaRecruitingNCT00881660

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 Hernia27 24

Anatomical Context for Congenital Diaphragmatic Hernia

About this section

MalaCards organs/tissues related to Congenital Diaphragmatic Hernia:

36
Lung, Heart, Fetal lung, Liver, Endothelial, Thyroid, Kidney

Publications for Congenital Diaphragmatic Hernia

About this section

Articles related to Congenital Diaphragmatic Hernia:

(show top 50)    (show all 758)
idTitleAuthorsYear
1
Pulmonary function and nutritional morbidity in children and adolescents with congenital diaphragmatic hernia. (27912974)
2017
2
Percent predicted lung volume changes on fetal magnetic resonance imaging throughout gestation in congenital diaphragmatic hernia. (28385427)
2017
3
Clinically relevant discordances identified after tertiary reassessment of fetuses with isolated congenital diaphragmatic hernia. (28453870)
2017
4
The validity of the observed-to-expected lung-to-head ratio in congenital diaphragmatic hernia in an era of standardized neonatal treatment; a multicenter study. (28453882)
2017
5
Congenital Diaphragmatic Hernia: The Side of Diaphragmatic Defect and Associated Nondiaphragmatic Malformations. (28301893)
2017
6
Predicting Full Enteral Feeding in the Postoperative Period in Infants with Congenital Diaphragmatic Hernia. (28081579)
2017
7
Tube Thoracostomy at the Time of Congenital Diaphragmatic Hernia Repair: Reassessing the Risks and Benefits. (28051921)
2017
8
The use of extracorporeal membrane oxygenation in neonates with severe congenital diaphragmatic hernia: a 26-year experience from a tertiary centrea8 . (28475684)
2017
9
Fetal Cardiac Impairment in Nitrofen-Induced Congenital Diaphragmatic Hernia: Postmortem Microcomputed Tomography Imaging Study. (28481127)
2017
10
Corrigendum to "delayed presentation of congenital diaphragmatic hernia manifesting as combined-type acute gastric volvulus: A case report and review of the literature" J Pediatr Surg 43 (3) (2008):E35-9. doi: 10.1016/j.Jpedsurg.2007.11.015. (28087138)
2017
11
Prognosis of isolated congenital diaphragmatic hernia using lung-to-head circumference ratio: variability across centers in a national perinatal network. (28295742)
2017
12
Klinefelter Syndrome in Association with Tetralogy of Fallot and Congenital Diaphragmatic Hernia. (28497001)
2017
13
Prenatally diagnosed congenital diaphragmatic hernia: optimal mode of delivery? (28055024)
2017
14
Ultrasound, Echocardiography, MRI, and Genetic Analysis of a Fetus with Congenital Diaphragmatic Hernia and Partial 11q Trisomy. (28352483)
2017
15
3D assessment of the Umbilical Vein Deviation Angle (UVDA) for the prediction of liver herniation in Left Congenital Diaphragmatic Hernia. (28078737)
2017
16
Survival Disparities Associated with Congenital Diaphragmatic Hernia. (28398654)
2017
17
Closer Look at the Nutritional Outcomes of Patients After Primary Repair of Congenital Diaphragmatic Hernia. (28489671)
2017
18
Down-regulation of N-deacetylase-N-sulfotransferase-1 signaling in the developing diaphragmatic vasculature of nitrofen-induced congenital diaphragmatic hernia. (28363469)
2017
19
Hybrid Stage I Procedure as Initial Palliation for Neonate With Hypoplastic Left Heart Syndrome and Right Congenital Diaphragmatic Hernia. (28100120)
2017
20
Observed-to-expected MRI fetal lung volume can predict long-term lung morbidity in infants with congenital diaphragmatic hernia. (28277913)
2017
21
Parenting stress among parents of children with congenital diaphragmatic hernia. (28527042)
2017
22
Fetal left-sided cardiac structural dimensions in left-sided congenital diaphragmatic hernia - association with severity and impact on postnatal outcomes. (28370263)
2017
23
Congenital Diaphragmatic hernia - a review. (28331629)
2017
24
Safety and tolerability of subcutaneous treprostinil in newborns with congenital diaphragmatic hernia and life-threatening pulmonary hypertension. (28389079)
2017
25
Sepsis risk factors in infants with congenital diaphragmatic hernia. (28321802)
2017
26
Obstructive Jaundice Caused by Hepatic Torsion in an Infant with Congenital Diaphragmatic Hernia. (28082781)
2017
27
Factors associated with early recurrence after congenital diaphragmatic hernia repair. (28359590)
2017
28
Genome-wide enrichment of damaging de novo variants in patients with isolated and complex congenital diaphragmatic hernia. (28303347)
2017
29
Fibrillin-1 Expression Is Decreased in the Diaphragmatic Muscle Connective Tissue of Nitrofen-Induced Congenital Diaphragmatic Hernia. (27522124)
2016
30
The relationship between three signs of fetal magnetic resonance imaging and severity of congenital diaphragmatic hernia. (27977015)
2016
31
Correlation of MRI Brain Injury Findings with Neonatal Clinical Factors in Infants with Congenital Diaphragmatic Hernia. (27151752)
2016
32
Delayed onset of right congenital diaphragmatic hernia associated with Group B streptococcal sepsis in a neonate. (27046983)
2016
33
Two-stage endoscopic repair of congenital diaphragmatic hernia. (27068726)
2016
34
Are Cytokines Useful Biomarkers to Determine Disease Severity in Neonates with Congenital Diaphragmatic Hernia? (27926976)
2016
35
Venovenous ECMO for Congenital Diaphragmatic Hernia: Role of Ductal Patency and Lung Recruitment. (27940774)
2016
36
A Multi-Institutional Review of Thoracoscopic Congenital Diaphragmatic Hernia Repair. (27603706)
2016
37
Neurodevelopmental outcomes at 5years of age in congenital diaphragmatic hernia. (27622588)
2016
38
Computed Tomographic Study of the Pediatric Diaphragmatic Growth: Application to the Treatment of Congenital Diaphragmatic Hernia. (27065355)
2016
39
Hypersplenism Associated With Late-Presenting Congenital Diaphragmatic Hernia: A Rare Combination. Case Report. (27227931)
2016
40
Myocardial Function Pre- and Post-Fetal Endoscopic TrachealA Occlusion (FETO) in Fetuses with Left-Sided Moderate to Severe Congenital Diaphragmatic Hernia. (27626241)
2016
41
Craniorachischisis Totalis with Congenital Diaphragmatic Hernia-A Rare Presentation of Fryns Syndrome. (27064748)
2016
42
Laparoscopic Repair of Congenital Diaphragmatic Hernia in Adults. (28074156)
2016
43
Congenital Diaphragmatic Hernia Defect Size and Infant Morbidity at Discharge. (27940787)
2016
44
Familial tetrasomy 4q35.2 associated with congenital diaphragmatic hernia and unilateral renal agenesis: a case report. (27036947)
2016
45
Risk of Readmission for Wheezing during Infancy in Children with Congenital Diaphragmatic Hernia. (27171167)
2016
46
Cord Blood-Derived Endothelial Colony-Forming Cell Function is Disrupted in Congenital Diaphragmatic Hernia. (27130531)
2016
47
Decreased Desmin expression in the developing diaphragm of the nitrofen-induced congenital diaphragmatic hernia rat model. (27651373)
2016
48
Survival of Three Neonates With Congenital Diaphragmatic Hernia and d-Transposition of the Great Arteries. (27154795)
2016
49
Growth Patterns of Fetal Lung Volumes in Healthy Fetuses and Fetuses With Isolated Left-Sided Congenital Diaphragmatic Hernia. (27091916)
2016
50
Downregulation of Forkhead box F1 gene expression in the pulmonary vasculature of nitrofen-induced congenital diaphragmatic hernia. (27663689)
2016

Variations for Congenital Diaphragmatic Hernia

About this section

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)SNVPathogenicrs587777710GRCh37Chr 18, 19751817: 19751817
2GATA6NM_ 005257.5(GATA6): c.1072delG (p.Val358Cysfs)deletionPathogenicrs587777711GRCh38Chr 18, 22172216: 22172216
346;XX;t(7;13)(p13;q34)dnTranslocationPathogenic
4GATA6NM_ 005257.5(GATA6): c.1366C> T (p.Arg456Cys)SNVPathogenicrs387906818GRCh37Chr 18, 19761477: 19761477
5NIPBLNM_ 133433.3(NIPBL): c.1810_ 1811delTC (p.Ser604Terfs)deletionLikely pathogenicrs1057518944GRCh38Chr 5, 36984990: 36984991

Copy number variations for Congenital Diaphragmatic Hernia from CNVD:

6 (show top 50)    (show all 94)
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1158571119957963119994447DeletionHSD3B2Congenital diaphragmatic hernia
2235971171936289171970634InDNM3Congenital diaphragmatic hernia
3277401212100000222100000DeletionDISP1Congenital diaphragmatic hernia
4277441212100000222100000DeletionHLXCongenital diaphragmatic hernia
5277541212100000225100000DeletionCongenital diaphragmatic hernia
6285221223073839225318623DeletionC1orf65Congenital diaphragmatic hernia
7285231223073839225318623DeletionCAPN2Congenital diaphragmatic hernia
8285241223073839225318623DeletionCAPN8Congenital diaphragmatic hernia
9285251223073839225318623DeletionDEGS1Congenital diaphragmatic hernia
10285261223073839225318623DeletionDISP1Congenital diaphragmatic hernia
11285271223073839225318623DeletionDNAH14Congenital diaphragmatic hernia
12285281223073839225318623DeletionFBXO28Congenital diaphragmatic hernia
13285291223073839225318623DeletionMIR320B2Congenital diaphragmatic hernia
14285301223073839225318623DeletionNVLCongenital diaphragmatic hernia
15285311223073839225318623DeletionSUSD4Congenital diaphragmatic hernia
16285321223073839225318623DeletionTLR5Congenital diaphragmatic hernia
17285331223073839225318623DeletionTP53BP2Congenital diaphragmatic hernia
18285341223073839225318623DeletionWDR26Congenital diaphragmatic hernia
193558816513734565218480InCACHD1Congenital diaphragmatic hernia
203558916513734565218480InRAVER2Congenital diaphragmatic hernia
214997811112347267134927114DerCongenital diaphragmatic hernia
2252746111916801232271202DerCongenital diaphragmatic hernia
2359704117727054077431584InAQP11Congenital diaphragmatic hernia
2459705117727054077431584InCLNS1ACongenital diaphragmatic hernia
2559706117727054077431584InRSF1Congenital diaphragmatic hernia
2664289121260000014800000DeletionRAIG1Congenital diaphragmatic hernia
276907612530000010000000DeletionRBP5Congenital diaphragmatic hernia
2879371137066649171594524InATXN8OSCongenital diaphragmatic hernia
2979372137066649171594524InKLHL1Congenital diaphragmatic hernia
3079373137066649171594524InSCA8Congenital diaphragmatic hernia
3185160143987520640301762DeletionFBXO33Congenital diaphragmatic hernia
3293300155079175850833347DeletionUSP50Congenital diaphragmatic hernia
3393301155079175850833347DeletionUSP8Congenital diaphragmatic hernia
3493579155580000065300000DeletionCongenital diaphragmatic hernia
3594339156530000076100000DeletionCongenital diaphragmatic hernia
3694505156754004268049656DeletionAAGABCongenital diaphragmatic hernia
3794506156754004268049656DeletionC15orf61Congenital diaphragmatic hernia
3894507156754004268049656DeletionIQCHCongenital diaphragmatic hernia
3994508156754004268049656DeletionMAP2K5Congenital diaphragmatic hernia
4095359157560010875648132InCOMMD4Congenital diaphragmatic hernia
4195360157560010875648132InNEIL1Congenital diaphragmatic hernia
4295413157610000079500000DeletionCRABP1Congenital diaphragmatic hernia
4395695157950000083000000DeletionCongenital diaphragmatic hernia
4495710157950000083000000MicrodeletionsAP3B2Congenital diaphragmatic hernia
4595711157950000083000000MicrodeletionsCPEB1Congenital diaphragmatic hernia
4695712157950000083000000MicrodeletionsHDGFRP3Congenital diaphragmatic hernia
4795713157950000083000000MicrodeletionsHOMER2Congenital diaphragmatic hernia
4896233158690000096300000DeletionCongenital diaphragmatic hernia
4996719159210000096300000DeletionCongenital diaphragmatic hernia
50973501616300000GainCongenital diaphragmatic hernia

Expression for genes affiliated with Congenital Diaphragmatic Hernia

About this section
Search GEO for disease gene expression data for Congenital Diaphragmatic Hernia.

Pathways for genes affiliated with Congenital Diaphragmatic Hernia

About this section

Pathways related to Congenital Diaphragmatic Hernia according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.8GATA6, SFTPB, SFTPC
29.4EDN1, ELN, FGF7, SFTPC

GO Terms for genes affiliated with Congenital Diaphragmatic Hernia

About this section

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

idNameGO IDScoreTop Affiliating Genes
1clathrin-coated endocytic vesicleGO:004533410.3SFTPB, SFTPC
2lamellar bodyGO:004259910.2SFTPB, SFTPC
3multivesicular body lumenGO:009748610.0SFTPB, SFTPC

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

(show all 29)
idNameGO IDScoreTop Affiliating Genes
1Clara cell differentiationGO:006048610.9GATA6, NKX2-1
2cellular response to gonadotropin stimulusGO:007137110.9GATA6, WT1
3lung saccule developmentGO:006043010.9GATA6, NKX2-1
4negative regulation of female gonad developmentGO:200019510.9WT1, ZFPM2
5intestinal epithelial cell differentiationGO:006057510.9GATA4, GATA6
6positive regulation of cardiac muscle cell proliferationGO:006004510.9GATA6, ZFPM2
7adrenal gland developmentGO:003032510.9STRA6, WT1
8diaphragm developmentGO:006053910.9STRA6, WT1
9positive regulation of male gonad developmentGO:200002010.9WT1, ZFPM2
10positive regulation of cardioblast differentiationGO:005189110.9GATA4, GATA6
11embryonic digestive tract developmentGO:004856610.9ALDH1A2, STRA6
12cardiac muscle tissue developmentGO:004873810.7ALDH1A2, GATA6, ZFPM2
13male gonad developmentGO:000858410.7GATA4, GATA6, WT1
14neural crest cell developmentGO:001403210.7ALDH1A2, EDN1
15kidney developmentGO:000182210.7ALDH1A2, STRA6, WT1
16animal organ morphogenesisGO:000988710.7ELN, NKX2-1, SFTPB
17Type II pneumocyte differentiationGO:006051010.6GATA6, NKX2-1
18lung developmentGO:003032410.5ALDH1A2, NKX2-1, STRA6, ZFPM2
19response to vitamin AGO:003318910.5ALDH1A2, GATA4
20forebrain developmentGO:003090010.5ALDH1A2, LRP2, NKX2-1, NR2F2
21in utero embryonic developmentGO:000170110.5EDN1, GATA6, NR2F2, ZFPM2
22uterus morphogenesisGO:006103810.3NIPBL, STRA6
23negative regulation of transcription, DNA-templatedGO:004589210.1GATA6, NIPBL, NKX2-1, NR2F2, WT1, ZFPM2
24respiratory gaseous exchangeGO:000758510.0EDN1, ELN, SFTPB, SFTPC
25ventricular septum developmentGO:00032819.9GATA4, LRP2, STRA6
26heart developmentGO:00075079.9EDN1, LRP2, NIPBL, STRA6, WT1, ZFPM2
27negative regulation of transcription from RNA polymerase II promoterGO:00001229.8EDN1, GATA6, NIPBL, NKX2-1, NR2F2, WT1
28positive regulation of transcription from RNA polymerase II promoterGO:00459449.7EDN1, GATA4, GATA6, NIPBL, NKX2-1, WT1
29positive regulation of transcription, DNA-templatedGO:00458939.6FGF7, GATA4, GATA6, NKX2-1, NR2F2, WT1

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

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II transcription factor bindingGO:000108510.7GATA4, GATA6, ZFPM2
2sequence-specific DNA bindingGO:004356510.2GATA4, GATA6, NKX2-1, NR2F2, WT1
3transcription regulatory region DNA bindingGO:00442129.8GATA4, GATA6, NKX2-1, WT1

Sources for Congenital Diaphragmatic Hernia

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet