CDH
MCID: CNG015
MIFTS: 60

Congenital Diaphragmatic Hernia (CDH) malady

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

Aliases & Classifications for Congenital Diaphragmatic Hernia

Aliases & Descriptions for Congenital Diaphragmatic Hernia:

Name: Congenital Diaphragmatic Hernia 12 23 50 24 25 56 29 14
Cdh 50 24 56
Congenital Diaphragmatic Defect 50 25
Diaphragmatic Hernia 12 14
Unilateral Agenesis of Diaphragm 50
Hernia Diaphragmatic Congenital 52
Agenesis of Hemidiaphragm 50
Hernia, Diaphragmatic 42
Hernia Diaphragmatic 52

Characteristics:

Orphanet epidemiological data:

56
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:

32
congenital diaphragmatic hernia:
Inheritance multifactorial inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:3827
MeSH 42 D006548
NCIt 47 C34687
Orphanet 56 ORPHA2140
MESH via Orphanet 43 C538080
UMLS via Orphanet 70 C0235833
ICD10 via Orphanet 34 Q79.0
UMLS 69 C0019284

Summaries for Congenital Diaphragmatic Hernia

NIH Rare Diseases : 50 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. An important gene associated with Congenital Diaphragmatic Hernia is GATA6 (GATA Binding Protein 6), and among its related pathways/superpathways are Surfactant metabolism and Lung fibrosis. The drugs Nitric Oxide and Vasodilator Agents have been mentioned in the context of this disorder. Affiliated tissues include lung, heart and fetal lung, and related phenotypes are growth/size/body region and mortality/aging

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 : 12 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: NBK1359

Related Diseases for Congenital Diaphragmatic Hernia

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)
id Related Disease Score Top Affiliating Genes
1 imperforate anus 29.1 ALDH1A2 EFNB1 FREM1 GATA4 LRP2 NR2F2
2 dih1-related congenital diaphragmatic hernia 12.0
3 fryns syndrome 11.4
4 hiatus hernia 11.3
5 craniofacial-deafness-hand syndrome 11.1
6 donnai-barrow syndrome 11.0
7 pulmonary hypertension, neonatal 11.0
8 diaphragmatic hernia 3 11.0
9 pulmonary hypertension 10.4
10 esophagitis 10.4
11 persistent eustachian valve 10.3 GATA4 GATA6
12 esophageal atresia 10.3
13 ectodermal dysplasia with natal teeth, turnpenny type 10.3 SFTPB SFTPC
14 mediastinum seminoma 10.3 SFTPC WT1
15 congenital benign spinal muscular atrophy dominant 10.3 GATA4 GATA6 NR2F2
16 ichthyosis 10.3 GATA4 GATA6 ZFPM2
17 pauciarticular chronic arthritis 10.3 GATA4 GATA6 NR2F2
18 osteochondritis dissecans 10.2 NKX2-1 SFTPB SFTPC
19 malignant pineal area germ cell neoplasm 10.2 GATA4 GATA6 ZFPM2
20 common wart 10.2 SFTPB SFTPC
21 dentine erosion 10.2 GATA4 GATA6 NKX2-1
22 trichodental syndrome 10.2 GATA4 GATA6 NR2F2 ZFPM2
23 hypogonadotropic hypogonadism 12 with or without anosmia 10.2 GATA4 GATA6 ZFPM2
24 villous adenocarcinoma 10.2 NKX2-1 SFTPB
25 partial fetal alcohol syndrome 10.2 EDN1 GATA4 GATA6
26 back pain 10.2 SFTPB SFTPC
27 renal pelvis adenocarcinoma 10.2 SFTPC WT1
28 pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 10.2 NKX2-1 SFTPB SFTPC
29 endotheliitis 10.2
30 acute closed-angle glaucoma 10.1 EDN1 GATA6 SFTPB
31 anogenital venereal wart 10.1 EDN1 NKX2-1 SFTPB SFTPC
32 nervous system cancer 10.1 EDN1 NKX2-1 SFTPB SFTPC
33 hepatitis 10.1
34 omphalocele 10.1
35 ceroid lipofuscinosis, neuronal, 8 10.1 EDN1 GATA4 GATA6 ZFPM2
36 gastroschisis 10.1
37 thyroiditis 10.1
38 pulmonary sequestration 10.1
39 tracheoesophageal fistula 10.1
40 agenesis and aplasia of uterine body 10.1 NKX2-1 SFTPB
41 subcorneal pustular dermatosis 10.1 EDN1 ELN NKX2-1 SFTPB SFTPC
42 wolf-hirschhorn syndrome 10.0
43 diaphragmatic eventration 10.0
44 polyhydramnios 10.0
45 lung disease 10.0
46 aortic aneurysm, familial thoracic 6 10.0 EDN1 FGF7 SFTPB SFTPC
47 tetralogy of fallot 10.0
48 gastroesophageal reflux 10.0
49 intestinal obstruction 10.0
50 transposition of the great arteries 10.0

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



Diseases related to Congenital Diaphragmatic Hernia

Symptoms & Phenotypes for Congenital Diaphragmatic Hernia

Human phenotypes related to Congenital Diaphragmatic Hernia:

56 32
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 congenital diaphragmatic hernia 56 32 Very frequent (99-80%) HP:0000776

MGI Mouse Phenotypes related to Congenital Diaphragmatic Hernia:

44 (show all 18)
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.4 ALDH1A2 EDN1 EFNB1 FGF7 FREM1 GATA4
2 mortality/aging MP:0010768 10.38 ALDH1A2 EDN1 EFNB1 FREM1 GATA4 GATA6
3 cardiovascular system MP:0005385 10.35 NKX2-1 NR2F2 SFTPC STRA6 WT1 ZFPM2
4 endocrine/exocrine gland MP:0005379 10.35 ALDH1A2 EDN1 EFNB1 FREM1 GATA4 HOMER2
5 homeostasis/metabolism MP:0005376 10.32 EDN1 EFNB1 FGF7 GATA4 GATA6 LRP2
6 embryo MP:0005380 10.29 ALDH1A2 EDN1 EFNB1 GATA4 GATA6 LRP2
7 nervous system MP:0003631 10.25 ALDH1A2 EDN1 EFNB1 FGF7 FREM1 GATA4
8 craniofacial MP:0005382 10.17 ALDH1A2 EDN1 EFNB1 FREM1 LRP2 NIPBL
9 digestive/alimentary MP:0005381 10.16 EFNB1 FREM1 GATA4 LRP2 NKX2-1 NR2F2
10 limbs/digits/tail MP:0005371 10.1 PORCN ALDH1A2 EFNB1 FREM1 GATA4 GATA6
11 normal MP:0002873 10.07 ALDH1A2 EDN1 FREM1 GATA4 GATA6 NIPBL
12 reproductive system MP:0005389 10.07 EFNB1 FGF7 FREM1 GATA4 GATA6 LRP2
13 muscle MP:0005369 10.06 ZFPM2 ALDH1A2 EDN1 FREM1 GATA4 GATA6
14 no phenotypic analysis MP:0003012 10.06 EFNB1 GATA4 LRP2 NKX2-1 NR2F2 SFTPC
15 respiratory system MP:0005388 9.9 FREM1 GATA4 GATA6 LRP2 NKX2-1 SFTPB
16 renal/urinary system MP:0005367 9.87 ALDH1A2 EDN1 FGF7 FREM1 LRP2 PORCN
17 skeleton MP:0005390 9.7 ALDH1A2 EDN1 EFNB1 FGF7 FREM1 GATA4
18 vision/eye MP:0005391 9.28 ALDH1A2 EFNB1 FGF7 FREM1 LRP2 NIPBL

Drugs & Therapeutics for Congenital Diaphragmatic Hernia

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

(show all 46)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nitric Oxide Approved Phase 4 10102-43-9 145068
2 Vasodilator Agents Phase 4,Phase 2
3 Phosphodiesterase Inhibitors Phase 4,Phase 2
4 Sildenafil Citrate Phase 4 171599-83-0
5 Phosphodiesterase 5 Inhibitors Phase 4
6 Citrate Nutraceutical Phase 4
7
Citric Acid Nutraceutical, Vet_approved Phase 4 77-92-9 311
8
Omeprazole Approved, Investigational, Vet_approved Phase 3 73590-58-6 4594
9
Proton pump inhibitors Phase 3
10 Gastrointestinal Agents Phase 3
11 Antacids Phase 3
12 Anti-Ulcer Agents Phase 3
13
Milrinone Approved Phase 2 78415-72-2 4197
14 Anesthetics Phase 2
15 Phosphodiesterase 3 Inhibitors Phase 2
16 Platelet Aggregation Inhibitors Phase 2
17 Protective Agents Phase 2
18
Epinephrine Approved, Vet_approved 51-43-4 5816
19
Ethanol Approved 64-17-5 702
20
Pentobarbital Approved, Vet_approved 76-74-4 4737
21
Imidacloprid 105827-78-9 86418
22 Mydriatics
23 Adrenergic Agents
24 Adrenergic Agonists
25 Adrenergic alpha-Agonists
26 Adrenergic beta-Agonists
27 Neurotransmitter Agents
28 Albuterol
29 Trace Elements
30 Peripheral Nervous System Agents
31 Vasoconstrictor Agents
32 Epinephryl borate
33 Pharmaceutical Solutions
34 Anti-Asthmatic Agents
35 Vitamins
36 Immunoglobulins
37 Racepinephrine
38 Respiratory System Agents
39 Antibodies
40 Micronutrients
41 Autonomic Agents
42 Bronchodilator Agents
43 Central Nervous System Depressants
44 Liver Extracts
45 lysine Nutraceutical
46 threonine Nutraceutical

Interventional clinical trials:

(show top 50) (show all 83)
id Name Status NCT ID Phase
1 Nissen and Gastroplasty in Gastroesophageal Reflux Disease (GERD) Completed NCT00872755 Phase 4
2 Biologic Versus Synthetic Mesh for Treatment of Paraesophageal Hernia Recruiting NCT02242526 Phase 4
3 Transoral Incisionless Fundoplication (TIF) Versus Sham for Treatment of Gastroesophageal Reflux Disease (GERD) Active, not recruiting NCT01110811 Phase 4
4 Chronic Sildenafil for Severe Diaphragmatic Hernia Terminated NCT00133679 Phase 4
5 Rectal and Oral Omeprazole Treatment of Reflux Disease in Infants. Unknown status NCT00226044 Phase 3
6 Usage of Biological Patch Versus Plastic in the Laparoscopic Repair of Hiatal Hernias Unknown status NCT02328248 Phase 2, Phase 3
7 Tracheal Occlusion To Accelerate Lung Growth (TOTAL) Trial for Severe Pulmonary Hypoplasia Recruiting NCT01240057 Phase 2, Phase 3
8 Laparoscopic Repair of Giant Hiatal Hernias With Nitinol-framed Lightweight Polytetrafluoroethylene Mesh Active, not recruiting NCT01780285 Phase 3
9 Laparoscopic Lightweight Mesh Repair of Large Hiatal Hernias Active, not recruiting NCT01408108 Phase 3
10 Type of Material in Repair of Congenital Diaphragmatic Hernia Terminated NCT00257946 Phase 3
11 Early FETO for Severe Congenital Diaphragmatic Hernia Unknown status NCT01731509 Phase 2
12 Fetal Tracheal Occlusion in Severe Diaphragmatic Hernia: a Randomized Trial Unknown status NCT01302977 Phase 2
13 Fetoscopic Tracheal Balloon Occlusion in Left Diaphragmatic Hernia Unknown status NCT00373438 Phase 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 Laparoscopic Unknown status NCT02137018 Phase 1, Phase 2
15 'TOTAL' (Tracheal Occlusion To Accelerate Lung Growth) Trial Recruiting NCT02875860 Phase 2
16 Percutaneous Endoscopic Tracheal Plug/Unplug for CDH Active, not recruiting NCT00768703 Phase 1, Phase 2
17 Milrinone in Congenital Diaphragmatic Hernia Not yet recruiting NCT02951130 Phase 2
18 Fetal Tracheal Balloon Study in Diaphragmatic Hernia Terminated NCT00966823 Phase 2
19 Feto-Endoscopic Tracheal Occlusion (FETO) for Severe Left Congenital Diaphragmatic Hernia Recruiting NCT02986087 Phase 1
20 Open or Keyhole Surgery Through the Chest for Newborn Babies: Effect on Blood Gases Unknown status NCT01467245
21 Circulatory Changes During Venovenous (VV)- and Venoarterial (VA) Extracorporeal Membrane Oxygenation (ECMO) Unknown status NCT00622492
22 Metabolic Screening in Patients With Donnai-Barrow Syndrome Unknown status NCT01509287
23 Study of Paraesophageal Hernia Repair With Small Intestine Submucosa Unknown status NCT00786084
24 Immunologic Factors in Reflux Esophagitis and Barrett’s Esophagus Unknown status NCT00155805
25 Foreshortened Esophagus and Its Surgical Therapy Unknown status NCT00507377
26 Airway Inflammation in Congenital Diaphragmatic Hernia Patients Completed NCT02453750
27 Early Childhood Follow-up of Congenital Diaphragmatic Hernia Survivors Completed NCT01029665
28 Genetic Basis of Non Syndromic Congenital Diaphragmatic Hernia Completed NCT02175264
29 Study in Children With the Diagnosis of Congenital Diaphragmatic Hernia (CDH) and Oesophageal Atresia (EA) Completed NCT02466451
30 Inflammatory Cytokine Quantification in Infants Completed NCT01155830
31 Anesthetic Management in Fetoscopic Surgery and Incidence of Complications Completed NCT02434926
32 Determination of Lysine Requirement in the Parenterally Fed Neonate Completed NCT00779753
33 PREMAPIV : Intravesical Pressure Variation at Different Bladder Instillation Volumes in Newborn Children Completed NCT01296724
34 Antibody Secreting Cell and Cyotokine Profiles in Neonates on ECMO Completed NCT00371241
35 Prediction of Fetal Lung Maturity Completed NCT03159234
36 Genetic Analysis of Fraser Syndrome and Fryns Syndrome Completed NCT00032877
37 Evaluation of the Follow Me Mode of the AutoLap System - A Feasibility Study Completed NCT02326870
38 Veritas Laparoscopic Paraesophageal Hiatal Hernia (PEH) Repair Pilot Trial Completed NCT01195545
39 Short Esophagus in Type II-IV Hiatus Hernia Completed NCT01587859
40 Randomized, Prospective Controlled Trial of Paraesophageal Hernia Repair With Small Intestinal Submucosa (SIS) Completed NCT00272922
41 Use of Strattice Mesh in Paraesophageal Hernia Surgery Completed NCT01678157
42 Laparoscopy Versus Clinical Follow up to Detect Diaphragm Injury Completed NCT01044550
43 Follow-up of Patients Operated Upon for Type II-IV Hiatal Hernia Completed NCT01606449
44 Long-term Outcome of Laparoscopic Hiatal Hernia Repair With or Without Alloderm Mesh at a University Hospital Completed NCT01776827
45 GERD Treatment With Transoral Incisionless Fundoplication (TIF) Following Hiatal Hernia Surgery Completed NCT03143608
46 Necessity of Esophageal Dissection During Laparoscopic Fundoplication Completed NCT00287612
47 Prospective Study of Ventral Hernia Repair Completed NCT00894582
48 Gene Mutations and Rescue in Human Congenital Diaphragmatic Hernia Recruiting NCT01098929
49 Diaphragmatic Hernia Research & Exploration, Advancing Molecular Science Recruiting NCT00950118
50 Fetal Endotracheal Occlusion (FETO) in Severe and Extremely Severe Congenital Diaphragmatic Hernia Recruiting NCT00881660

Search NIH Clinical Center for Congenital Diaphragmatic Hernia

Cochrane evidence based reviews: hernia, diaphragmatic

Genetic Tests for Congenital Diaphragmatic Hernia

Genetic tests related to Congenital Diaphragmatic Hernia:

id Genetic test Affiliating Genes
1 Congenital Diaphragmatic Hernia 29 24

Anatomical Context for Congenital Diaphragmatic Hernia

MalaCards organs/tissues related to Congenital Diaphragmatic Hernia:

39
Lung, Heart, Fetal Lung, Liver, Endothelial, Kidney, Thyroid

Publications for Congenital Diaphragmatic Hernia

Articles related to Congenital Diaphragmatic Hernia:

(show top 50) (show all 758)
id Title Authors Year
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

ClinVar genetic disease variations for Congenital Diaphragmatic Hernia:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 GATA6 NM_005257.5(GATA6): c.1366C> T (p.Arg456Cys) single nucleotide variant Pathogenic rs387906818 GRCh37 Chromosome 18, 19761477: 19761477
2 GATA6 NM_005257.5(GATA6): c.712G> T (p.Gly238Ter) single nucleotide variant Pathogenic rs587777710 GRCh37 Chromosome 18, 19751817: 19751817
3 GATA6 NM_005257.5(GATA6): c.1072delG (p.Val358Cysfs) deletion Pathogenic rs587777711 GRCh38 Chromosome 18, 22172216: 22172216
4 46;XX;t(7;13)(p13;q34)dn Translocation Pathogenic
5 NIPBL NM_133433.3(NIPBL): c.1810_1811delTC (p.Ser604Terfs) deletion Likely pathogenic rs1057518944 GRCh38 Chromosome 5, 36984990: 36984991

Copy number variations for Congenital Diaphragmatic Hernia from CNVD:

7 (show top 50) (show all 94)
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 15857 1 119957963 119994447 Deletion HSD3B2 Congenital diaphragmatic hernia
2 23597 1 171936289 171970634 In DNM3 Congenital diaphragmatic hernia
3 27740 1 212100000 222100000 Deletion DISP1 Congenital diaphragmatic hernia
4 27744 1 212100000 222100000 Deletion HLX Congenital diaphragmatic hernia
5 27754 1 212100000 225100000 Deletion Congenital diaphragmatic hernia
6 28522 1 223073839 225318623 Deletion C1orf65 Congenital diaphragmatic hernia
7 28523 1 223073839 225318623 Deletion CAPN2 Congenital diaphragmatic hernia
8 28524 1 223073839 225318623 Deletion CAPN8 Congenital diaphragmatic hernia
9 28525 1 223073839 225318623 Deletion DEGS1 Congenital diaphragmatic hernia
10 28526 1 223073839 225318623 Deletion DISP1 Congenital diaphragmatic hernia
11 28527 1 223073839 225318623 Deletion DNAH14 Congenital diaphragmatic hernia
12 28528 1 223073839 225318623 Deletion FBXO28 Congenital diaphragmatic hernia
13 28529 1 223073839 225318623 Deletion MIR320B2 Congenital diaphragmatic hernia
14 28530 1 223073839 225318623 Deletion NVL Congenital diaphragmatic hernia
15 28531 1 223073839 225318623 Deletion SUSD4 Congenital diaphragmatic hernia
16 28532 1 223073839 225318623 Deletion TLR5 Congenital diaphragmatic hernia
17 28533 1 223073839 225318623 Deletion TP53BP2 Congenital diaphragmatic hernia
18 28534 1 223073839 225318623 Deletion WDR26 Congenital diaphragmatic hernia
19 35588 1 65137345 65218480 In CACHD1 Congenital diaphragmatic hernia
20 35589 1 65137345 65218480 In RAVER2 Congenital diaphragmatic hernia
21 49978 11 112347267 134927114 Der Congenital diaphragmatic hernia
22 52746 11 19168012 32271202 Der Congenital diaphragmatic hernia
23 59704 11 77270540 77431584 In AQP11 Congenital diaphragmatic hernia
24 59705 11 77270540 77431584 In CLNS1A Congenital diaphragmatic hernia
25 59706 11 77270540 77431584 In RSF1 Congenital diaphragmatic hernia
26 64289 12 12600000 14800000 Deletion RAIG1 Congenital diaphragmatic hernia
27 69076 12 5300000 10000000 Deletion RBP5 Congenital diaphragmatic hernia
28 79371 13 70666491 71594524 In ATXN8OS Congenital diaphragmatic hernia
29 79372 13 70666491 71594524 In KLHL1 Congenital diaphragmatic hernia
30 79373 13 70666491 71594524 In SCA8 Congenital diaphragmatic hernia
31 85160 14 39875206 40301762 Deletion FBXO33 Congenital diaphragmatic hernia
32 93300 15 50791758 50833347 Deletion USP50 Congenital diaphragmatic hernia
33 93301 15 50791758 50833347 Deletion USP8 Congenital diaphragmatic hernia
34 93579 15 55800000 65300000 Deletion Congenital diaphragmatic hernia
35 94339 15 65300000 76100000 Deletion Congenital diaphragmatic hernia
36 94505 15 67540042 68049656 Deletion AAGAB Congenital diaphragmatic hernia
37 94506 15 67540042 68049656 Deletion C15orf61 Congenital diaphragmatic hernia
38 94507 15 67540042 68049656 Deletion IQCH Congenital diaphragmatic hernia
39 94508 15 67540042 68049656 Deletion MAP2K5 Congenital diaphragmatic hernia
40 95359 15 75600108 75648132 In COMMD4 Congenital diaphragmatic hernia
41 95360 15 75600108 75648132 In NEIL1 Congenital diaphragmatic hernia
42 95413 15 76100000 79500000 Deletion CRABP1 Congenital diaphragmatic hernia
43 95695 15 79500000 83000000 Deletion Congenital diaphragmatic hernia
44 95710 15 79500000 83000000 Microdeletions AP3B2 Congenital diaphragmatic hernia
45 95711 15 79500000 83000000 Microdeletions CPEB1 Congenital diaphragmatic hernia
46 95712 15 79500000 83000000 Microdeletions HDGFRP3 Congenital diaphragmatic hernia
47 95713 15 79500000 83000000 Microdeletions HOMER2 Congenital diaphragmatic hernia
48 96233 15 86900000 96300000 Deletion Congenital diaphragmatic hernia
49 96719 15 92100000 96300000 Deletion Congenital diaphragmatic hernia
50 97350 16 1 6300000 Gain Congenital diaphragmatic hernia

Expression for Congenital Diaphragmatic Hernia

Search GEO for disease gene expression data for Congenital Diaphragmatic Hernia.

Pathways for Congenital Diaphragmatic Hernia

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
10.77 GATA6 SFTPB SFTPC
2 10.72 EDN1 ELN FGF7 SFTPC

GO Terms for Congenital Diaphragmatic Hernia

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

id Name GO ID Score Top Affiliating Genes
1 clathrin-coated endocytic vesicle GO:0045334 9.16 SFTPB SFTPC
2 lamellar body GO:0042599 8.96 SFTPB SFTPC
3 multivesicular body lumen GO:0097486 8.62 SFTPB SFTPC

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

(show all 29)
id Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription, DNA-templated GO:0045892 9.95 GATA6 NIPBL NKX2-1 NR2F2 WT1 ZFPM2
2 negative regulation of transcription from RNA polymerase II promoter GO:0000122 9.95 EDN1 GATA6 NIPBL NKX2-1 NR2F2 WT1
3 in utero embryonic development GO:0001701 9.9 EDN1 GATA6 NR2F2 ZFPM2
4 animal organ morphogenesis GO:0009887 9.81 ELN NKX2-1 SFTPB
5 male gonad development GO:0008584 9.79 GATA4 GATA6 WT1
6 kidney development GO:0001822 9.78 ALDH1A2 STRA6 WT1
7 positive regulation of transcription, DNA-templated GO:0045893 9.7 FGF7 GATA4 GATA6 NKX2-1 NR2F2 WT1
8 lung development GO:0030324 9.67 ALDH1A2 NKX2-1 STRA6 ZFPM2
9 neural crest cell development GO:0014032 9.64 ALDH1A2 EDN1
10 positive regulation of cardiac muscle cell proliferation GO:0060045 9.64 GATA6 ZFPM2
11 response to vitamin A GO:0033189 9.63 ALDH1A2 GATA4
12 adrenal gland development GO:0030325 9.62 STRA6 WT1
13 embryonic digestive tract development GO:0048566 9.62 ALDH1A2 STRA6
14 ventricular septum development GO:0003281 9.61 GATA4 LRP2 STRA6
15 diaphragm development GO:0060539 9.59 STRA6 WT1
16 positive regulation of male gonad development GO:2000020 9.58 WT1 ZFPM2
17 cellular response to gonadotropin stimulus GO:0071371 9.58 GATA6 WT1
18 intestinal epithelial cell differentiation GO:0060575 9.57 GATA4 GATA6
19 forebrain development GO:0030900 9.56 ALDH1A2 LRP2 NKX2-1 NR2F2
20 lung saccule development GO:0060430 9.55 GATA6 NKX2-1
21 uterus morphogenesis GO:0061038 9.54 NIPBL STRA6
22 Type II pneumocyte differentiation GO:0060510 9.52 GATA6 NKX2-1
23 positive regulation of cardioblast differentiation GO:0051891 9.51 GATA4 GATA6
24 cardiac muscle tissue development GO:0048738 9.5 ALDH1A2 GATA6 ZFPM2
25 Clara cell differentiation GO:0060486 9.49 GATA6 NKX2-1
26 negative regulation of female gonad development GO:2000195 9.46 WT1 ZFPM2
27 heart development GO:0007507 9.43 EDN1 LRP2 NIPBL STRA6 WT1 ZFPM2
28 respiratory gaseous exchange GO:0007585 8.92 EDN1 ELN SFTPB SFTPC
29 positive regulation of transcription from RNA polymerase II promoter GO:0045944 10.1 EDN1 GATA4 GATA6 NIPBL NKX2-1 WT1

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

id Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.55 GATA4 GATA6 NKX2-1 NR2F2 WT1
2 transcription regulatory region DNA binding GO:0044212 9.26 GATA4 GATA6 NKX2-1 WT1
3 RNA polymerase II transcription factor binding GO:0001085 8.8 GATA4 GATA6 ZFPM2

Sources for Congenital Diaphragmatic Hernia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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