CDH
MCID: DPH024
MIFTS: 66

Diaphragmatic Hernia, Congenital (CDH)

Categories: Fetal diseases, Gastrointestinal diseases, Genetic diseases, Muscle diseases, Rare diseases, Respiratory diseases
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Aliases & Classifications for Diaphragmatic Hernia, Congenital

MalaCards integrated aliases for Diaphragmatic Hernia, Congenital:

Name: Diaphragmatic Hernia, Congenital 57 75
Congenital Diaphragmatic Hernia 11 24 19 42 58 75 28 5 14 16 31 33
Diaphragmatic Hernia 11 5 14 16 31 33
Congenital Diaphragmatic Defect 19 42
Hernia, Diaphragmatic 43 38
Cdh 19 58
Congenital Diaphragm Defect with Hernia 33
Diaphragm, Unilateral Agenesis of 57
Gross Congenital Diaphragm Defect 33
Hernia, Congenital Diaphragmatic 57
Diaphragmatic Defect, Congenital 57
Unilateral Agenesis of Diaphragm 19
Hernia Diaphragmatic Congenital 53
Hernia, Diaphragmatic, Type 1 38
Congenital Diaphragm Hernia 33
Hemidiaphragm, Agenesis of 57
Agenesis of Hemidiaphragm 19
Oesophageal Hiatus Hernia 33
Diaphragmatic Hernia 1 57
Paraoesophageal Hernia 33
Sliding Hiatus Hernia 33
Hernia Diaphragmatic 53
Hiatus Hernia 33
Dih 57
Hcd 57

Characteristics:


Inheritance:

Diaphragmatic Hernia, Congenital: Multifactorial 57
Congenital Diaphragmatic Hernia: Multigenic/multifactorial 58

Prevelance:

Congenital Diaphragmatic Hernia: 1-5/10000 (Worldwide, Europe, Austria, Belgium, Croatia, Denmark, France, Hungary, Ireland, Italy, Malta, Netherlands, Norway, Portugal, Switzerland, United Kingdom, Ukraine, United States) 1-9/100000 (Germany, Poland, Spain) 58

Age Of Onset:

Congenital Diaphragmatic Hernia: Neonatal 58

Classifications:

Orphanet: 58  
Rare respiratory diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 11 DOID:3827
OMIM® 57 142340
OMIM Phenotypic Series 57 PS142340
MeSH 43 D006548
NCIt 49 C34687
SNOMED-CT 68 155748004
MESH via Orphanet 44 C538080
ICD10 via Orphanet 32 Q79.0
UMLS via Orphanet 72 C0235833
Orphanet 58 ORPHA2140
MedGen 40 C0235833
UMLS 71 C0019284

Summaries for Diaphragmatic Hernia, Congenital

MedlinePlus Genetics: 42 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.In 5 to 10 percent of affected individuals, signs and symptoms of congenital diaphragmatic hernia appear later in life and may include breathing problems or abdominal pain from protrusion of the intestine into the chest cavity. In about 1 percent of cases, congenital diaphragmatic hernia has no symptoms; it may be detected incidentally when medical imaging is done for other reasons.Congenital diaphragmatic hernias are often classified by their position. A Bochdalek hernia is a defect in the side or back of the diaphragm. Between 80 and 90 percent of congenital diaphragmatic hernias are of this type. A Morgnani hernia is a defect involving the front part of the diaphragm. This type of congenital diaphragmatic hernia, which accounts for approximately 2 percent of cases, is less likely to cause severe symptoms at birth. Other types of congenital diaphragmatic hernia, such as those affecting the central region of the diaphragm, or those in which the diaphragm muscle is absent with only a thin membrane in its place, are rare.

MalaCards based summary: Diaphragmatic Hernia, Congenital, also known as congenital diaphragmatic hernia, is related to microphthalmia, syndromic 12 and donnai-barrow syndrome. An important gene associated with Diaphragmatic Hernia, Congenital is GATA6 (GATA Binding Protein 6), and among its related pathways/superpathways are G-protein signaling_Rap2B regulation pathway and Development of ureteric collection system. The drugs Nitric Oxide and Sodium citrate have been mentioned in the context of this disorder. Affiliated tissues include lung, heart and fetal lung, and related phenotypes are congenital diaphragmatic hernia and intestinal malrotation

GARD: 19 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 serious complications. CDH may be associated with several syndromes (some caused by genetic changes or a chromosome abnormality), it may be associated with other birth defects, or it may occur with no other abnormalities. It is rarely inherited.

OMIM®: 57 Congenital diaphragmatic hernia (CDH) refers to a group of congenital defects in the structural integrity of the diaphragm which are often associated with lethal pulmonary hypoplasia and pulmonary hypertension. Prevalence in newborns ranges from 1 in 2,500 to 1 in 4,000, and there is a 30 to 60% mortality rate (Langham et al., 1996; Harrison et al., 1994; Nobuhara et al., 1996). Most cases of congenital diaphragmatic hernia are sporadic. (142340) (Updated 08-Dec-2022)

Orphanet: 58 A rare developmental defect during embryogenesis which can be a non-syndromic (70%) or syndromic (30%) diaphragmatic malformation characterized by a posterolateral defect of the diaphragm that allows passage of abdominal viscera into the thorax, leading to respiratory insufficiency and persistent pulmonary hypertension.

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

GeneReviews: NBK1359

Related Diseases for Diaphragmatic Hernia, Congenital

Diseases in the Hernia, Anterior Diaphragmatic family:

Diaphragmatic Hernia, Congenital Diaphragmatic Hernia 2
Diaphragmatic Hernia 3

Diseases related to Diaphragmatic Hernia, Congenital via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 884)
# Related Disease Score Top Affiliating Genes
1 microphthalmia, syndromic 12 33.3 STRA6 FREM2
2 donnai-barrow syndrome 32.2 ZFPM2 STRA6 MYRF
3 patent ductus arteriosus 1 31.6 ZFPM2 GATA6 FBN1 ELN
4 tetralogy of fallot 31.5 ZFPM2 STRA6 NIPBL GATA6 FBN1 ELN
5 atrial heart septal defect 31.5 ZFPM2 NIPBL GATA6 FBN1 ELN
6 hypoplastic left heart syndrome 31.3 ZFPM2 ROBO4 GATA6 ELN
7 anus, imperforate 31.3 GLI3 FREM2 FRAS1
8 cryptorchidism, unilateral or bilateral 31.2 ZFPM2 WT1 NIPBL GLI3
9 cleft palate, isolated 31.1 PGAP3 NIPBL GLI3 FREM2 FRAS1 FBN1
10 renal hypodysplasia/aplasia 1 31.0 WT1 FREM2 FRAS1
11 tracheal stenosis 30.9 NKX2-1 FBN1 ELN
12 vesicoureteral reflux 30.8 NIPBL FREM2 FRAS1
13 coloboma of macula 30.7 STRA6 GLI3 FREM2 FRAS1
14 aortic aneurysm, familial thoracic 1 30.7 ROBO4 GATA6 FBN1 ELN
15 patent foramen ovale 30.6 NKX2-1 GATA6 FBN1 ELN
16 pneumothorax 30.6 NKX2-1 FBN1 ELN
17 inguinal hernia 30.6 WT1 FBN1 ELN
18 aortic valve disease 1 30.6 ROBO4 GATA6 FBN1 ELN
19 renal hypodysplasia/aplasia 3 30.6 FREM2 FRAS1
20 noonan syndrome 1 30.5 NIPBL FREM2 FRAS1 FBN1
21 disorder of sexual development 30.5 ZFPM2 WT1 MYRF
22 diaphragmatic eventration 30.4 ZFPM2 STRA6 NIPBL MYRF FBN1
23 hernia, hiatus 11.9
24 tonne-kalscheuer syndrome 11.7
25 omphalocele, diaphragmatic hernia, and radial ray defects 11.6
26 displacement of cardia through esophageal hiatus 11.5
27 lethal hydranencephaly-diaphragmatic hernia syndrome 11.5
28 46,xx sex reversal 5 11.4
29 developmental dysplasia of the hip 1 11.4
30 alpha-heavy chain disease 11.4
31 cardiac-urogenital syndrome 11.3
32 schisis association 11.3
33 dandy-walker malformation with nasopharyngeal teratoma and diaphragmatic hernia 11.3
34 gamma heavy chain disease 11.3
35 saal bulas syndrome 11.3
36 agammaglobulinemia 11.3
37 african histoplasmosis 11.3
38 split-hand with obstructive uropathy, spina bifida, and diaphragmatic defects 11.2
39 linear skin defects with multiple congenital anomalies 1 11.2
40 williams-beuren region duplication syndrome 11.2
41 froster-huch syndrome 11.2
42 pallister-killian syndrome 11.2
43 congenital heart defects, multiple types, 4 11.2
44 teebi hypertelorism syndrome 1 11.2
45 sucrosuria, hiatus hernia and mental retardation 11.2
46 galloway-mowat syndrome 11.2
47 multiple pterygium syndrome, escobar variant 11.2
48 gas bloat syndrome 11.2
49 epidermolysis bullosa with diaphragmatic hernia 11.2
50 pulmonary hypertension, neonatal 11.2

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



Diseases related to Diaphragmatic Hernia, Congenital

Symptoms & Phenotypes for Diaphragmatic Hernia, Congenital

Human phenotypes related to Diaphragmatic Hernia, Congenital:

58 30 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 congenital diaphragmatic hernia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000776
2 intestinal malrotation 58 30 Frequent (33%) Frequent (79-30%)
HP:0002566
3 respiratory distress 58 30 Frequent (33%) Frequent (79-30%)
HP:0002098
4 prominent sternum 58 30 Frequent (33%) Frequent (79-30%)
HP:0000884
5 pulmonary hypoplasia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002089
6 aplasia/hypoplasia of the diaphragm 58 30 Frequent (33%) Frequent (79-30%)
HP:0010315
7 hypoxemia 58 30 Frequent (33%) Frequent (79-30%)
HP:0012418
8 abnormality of cardiovascular system morphology 58 30 Frequent (33%) Frequent (79-30%)
HP:0030680

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Thorax:
familial congenital diaphragmatic hernia

Clinical features from OMIM®:

142340 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Diaphragmatic Hernia, Congenital:

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.22 CDK8 FBN1 FRAS1 FREM2 GATA6 GLI3
2 nervous system MP:0003631 10.2 CDK8 FBN1 FGF7 FREM2 GLI3 LONP1
3 limbs/digits/tail MP:0005371 10.09 FBN1 FGF7 FRAS1 FREM2 GATA6 GLI3
4 no phenotypic analysis MP:0003012 10.08 FBN1 FRAS1 GLI3 NKX2-1 ROBO4 STRA6
5 cardiovascular system MP:0005385 10.07 CDK8 ELN FBN1 FRAS1 FREM2 GATA6
6 cellular MP:0005384 10.06 CDK8 FBN1 FRAS1 GATA6 GLI3 LONP1
7 embryo MP:0005380 10.02 CDK8 FBN1 FREM2 GATA6 GLI3 LONP1
8 pigmentation MP:0001186 9.89 FBN1 FREM2 GLI3 MYRF STRA6
9 respiratory system MP:0005388 9.85 ELN FBN1 FRAS1 FREM2 GATA6 GLI3
10 skeleton MP:0005390 9.61 ELN FBN1 FRAS1 FREM2 GLI3 NIPBL
11 mortality/aging MP:0010768 9.53 CDK8 ELN FBN1 FRAS1 FREM2 GATA6

Drugs & Therapeutics for Diaphragmatic Hernia, Congenital

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

(show all 36)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nitric Oxide Approved Phase 4 10102-43-9 145068
2
Sodium citrate Approved, Investigational Phase 4 68-04-2 23431961
3
Sildenafil Approved, Investigational Phase 4 139755-83-2, 171599-83-0 5212 135398744
4
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
5 Protective Agents Phase 4
6 Bronchodilator Agents Phase 4
7 Anti-Asthmatic Agents Phase 4
8 Respiratory System Agents Phase 4
9 Neurotransmitter Agents Phase 4
10 Endothelium-Dependent Relaxing Factors Phase 4
11 Antioxidants Phase 4
12 Phosphodiesterase Inhibitors Phase 4
13 Vasodilator Agents Phase 4
14 Phosphodiesterase 5 Inhibitors Phase 4
15 Citrate Phase 4
16
Esomeprazole Approved, Investigational, Vet_approved Phase 3 73590-58-6, 119141-88-7 9568614 4594
17 Anti-Ulcer Agents Phase 3
18 Antacids Phase 3
19 Proton Pump Inhibitors Phase 3
20 Gastrointestinal Agents Phase 3
21
Milrinone Approved Phase 2 78415-72-2 4197
22 Anesthetics Phase 2
23 Cardiotonic Agents Phase 2
24 Phosphodiesterase 3 Inhibitors Phase 2
25 Platelet Aggregation Inhibitors Phase 2
26
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
27
Tannic acid Approved 1401-55-4 16129878 16129778
28
Fentanyl Approved, Illicit, Investigational, Vet_approved 437-38-7 3345
29
Atropine Approved, Vet_approved 101-31-5, 5908-99-6, 51-55-8 3661 154417 174174
30
Salbutamol Approved, Vet_approved 18559-94-9 2083
31
Oxytocin Approved, Vet_approved 50-56-6 439302 53477758
32
D-Threonine Approved, Experimental, Nutraceutical 72-19-5, 632-20-2 205 6288
33 Vasoconstrictor Agents
34 Immunoglobulins
35 Antibodies
36 Liver Extracts

Interventional clinical trials:

(show top 50) (show all 77)
# Name Status NCT ID Phase Drugs
1 Inhaled Nitric Oxide (iNO) for Congenital Diaphragmatic Hernia (CDH) - The "NoNO Trial" - a Multi-center, De-implementation, Stepped-wedge, Cluster-randomized Trial Within an Established Collaborative Not yet recruiting NCT05213676 Phase 4 Inhaled Nitric Oxide (iNO) use
2 Chronic Sildenafil for Severe Diaphragmatic Hernia Terminated NCT00133679 Phase 4 sildenafil;Placebo
3 Rectal and Oral Omeprazole Treatment of Gastroesophageal Reflux in Infants With Esophageal Atresia or Congenital Diaphragmatic Hernia; A Pharmacodynamic and Pharmacokinetic Study. Completed NCT00226044 Phase 3 Omeprazole rectally 1mg/kg
4 Randomized Trial of Fetoscopic Endoluminal Tracheal Occlusion (FETO) Versus Expectant Management During Pregnancy in Fetuses With Left Sided and Isolated Congenital Diaphragma Hernia and Severe Pulmonary Hypoplasia. Completed NCT01240057 Phase 2, Phase 3
5 Prospective Randomized Trial Comparing Type of Material in Repair of Congenital Diaphragmatic Hernia Terminated NCT00257946 Phase 3
6 Contribution of PRF (Platelet Rich Fibrin) in the Biological Functionalization of Prothetic Patch Closure : in Vitro Study Terminated NCT03861182 Phase 3
7 "Early" Versus "Standard" Fetal Endoscopic Tracheal Occlusion for Severe Congenital Diaphragmatic Hernia - a Randomized Controlled Trial Unknown status NCT01731509 Phase 2
8 Tracheal Occlusion Guided by Percutaneous Fetoscopy in Fetuses With Severe Isolated Congenital Diaphragmatic Hernia Unknown status NCT01302977 Phase 2
9 Randomized Clinical Trial in Order to Assess the Effect of Fetoscopic Tracheal Balloon Occlusion on the Postnatal Disease Course in Neonates With Left Congenital Diaphragmatic Hernia - FDH-ECMO/BALLOON-TRIAL Unknown status NCT00373438 Phase 2
10 TOTAL TRIAL: Randomized Trial of Fetoscopic Endoluminal Tracheal Occlusion (FETO) Versus Expectant Management During Pregnancy in Fetuses With Left-Sided and Isolated Congenital Diaphragmatic Hernia and Moderate Pulmonary Hypoplasia Completed NCT02875860 Phase 2
11 Milrinone in Congenital Diaphragmatic Hernia Recruiting NCT02951130 Phase 2 Milrinone;Placebo (5% Dextrose)
12 A Trial of Phosphodiesterase-5 Inhibitor in Neonatal Congenital Diaphragmatic Hernia (TOP-CDH) Recruiting NCT05201144 Phase 2 Sildenafil Oral Suspension
13 Phase 2 Fetal Tracheal Balloon (IDE G080077) Study in Diaphragmatic Hernia Terminated NCT00966823 Phase 2
14 Umbilical Cord Blood Mononuclear Cells for Hypoxic Neurologic Injury in Infants With Congenital Diaphragmatic Hernia (CDH) Recruiting NCT03526588 Phase 1
15 Qualitative In-depth Interviews With Women and Their Partners Concerning the Acceptability of Fetal Surgery Unknown status NCT03788122
16 Proteomic Analysis of Amniotic Fluid in the Case of Diaphragmatic Hernia: Search for Prognostic Expression Profiles Unknown status NCT03179371
17 Gene Mutations and Rescue in Human Congenital Diaphragmatic Hernia Unknown status NCT01098929
18 the Effect of Different Modes of Mechanical Ventilation on Cerebral Blood Flow During Thoracoscopic Surgeries in Neonates (RCT) Unknown status NCT04507295
19 The Intrauterine Fetoscopic Tracheal Occlusion (FETO) With Long Tail Balloon for a Treatment of Severe Congenital Diaphragmatic Hernia (CDH) Unknown status NCT03431792
20 Optimisation of Neonatal Ventilation: Congenital Diaphragmatic Hernia - Determining the Appropriate Level of Volume Guarantee Unknown status NCT02849054
21 Prospective Data Collection of Patients < 6 Months of Age Undergoing Thoracoscopic Surgery Completed NCT02033772
22 Randomized Trial of Fetoscopic Endoluminal Tracheal Occlusion (FETO) Versus Expectant Management During Pregnancy in Fetuses With Left Sided and Isolated Congenital Diaphragmatic Hernia and Moderate Pulmonary Hypoplasia. Completed NCT00763737
23 Delayed Cord Clamping for Intubation and Gentle Ventilation in Infants With Congenital Diaphragmatic Hernia Completed NCT03314233
24 Virtual Reality-based Exercises' Effects on Pulmonary Functions, Cardiopulmonary Capacity, Functional Performance, and Quality of Life in Children With Repaired Congenital Diaphragmatic Hernia Completed NCT05612503
25 Determining the Effect of Probiotics on Microbiome and Volatile Organic Compounds in Patients After Surgical Repair of Congenital Diaphragmatic Hernia Completed NCT03787160
26 Management and Outcomes of Congenital Anomalies in Low-, Middle- and High-Income Countries: A Multi-Centre, International, Prospective Cohort Study Completed NCT03666767
27 Resuscitation of Infants With Congenital Diaphragmatic Hernia With an Intact Umbilical Cord Completed NCT03242044
28 Investigation of Airway Inflammation in Congenital Diaphragmatic Hernia Patients Completed NCT02453750 Hypersaline;Bronchodilator Response
29 Hypercapnia During Thoracoscopy or Open Surgery for Repair of Oesophageal Atresia With Tracheo-oesophageal Fistula or Congenital Diaphragmatic Hernia in Neonates: Pilot Randomised Controlled Trial Completed NCT01467245
30 Inflammatory Cytokine Quantification in Infants With Documented Sepsis, Congenital Diaphragmatic Hernia and/or ECMO Therapy Completed NCT01155830
31 Physiologic Pilot Study: Work of Breathing Description in Neonates With Congenital Diaphragmatic Hernia in Post-surgical Period Alternatively in Conventional Ventilation (Pressure Controlled) and in NAVA (Neurally Adjusted Ventilatory Assist) Ventilation. Completed NCT03250793
32 Early Childhood Follow-up of Congenital Diaphragmatic Hernia Survivors Completed NCT01029665
33 Effect of Chest Resistance Exercise Combined With Chest Expansion Exercises on Respiratory Muscle Strength, Lung Function, and Thoracic Excursion in Children With Post-operative Congenital Diaphragmatic Hernia Completed NCT04900649
34 Genetic Basis of Non Syndromic Congenital Diaphragmatic Hernia Completed NCT02175264
35 Compare the Effects of Volume-oriented Versus Flow-oriented Incentive Spirometry on Pulmonary Function and Functional Capacity in Patients of Upper Abdominal Laparoscopic Surgery Completed NCT04716166
36 Observational Longitudinal Study in Children With the Diagnosis of Diaphragmatic Hernia and/or Oesophageal Atresia for Assessing Lung Function Parameters and Quality of Life Completed NCT02466451
37 Antibody Secreting Cell (ASC) and Immunoactive Protein Profiles in Neonates on Extracorporeal Membrane Oxygenation (ECMO) Completed NCT00371241
38 Postoperative Outcomes of Trans-abdominal Open Surgical Repair of Traumatic Diaphragmatic Hernias in Adults. Completed NCT05591482
39 Molecular Genetic Analysis of Fraser Syndrome and Fryns Syndrome Completed NCT00032877
40 Effects of Position and a Test Meal on Esophago-gastric Junction Morphology and Function Assessed by High-resolution Impedance Manometry (HRM) Completed NCT02397616
41 True Short Esophagus in Gastroesophageal Reflux Disease or Hiatus Hernia Completed NCT03848494
42 Single Anastomosis Sleeve Iejenal Bypass With Crural Repair in Obese Patient With Hiatus Hernia Completed NCT04823767
43 Frequency of True Short Esophagus in Type II-IV Hiatus Hernia Completed NCT01587859
44 Pilot Trial of Fetoscopic Endoluminal Tracheal Occlusion (FETO) in Severe Left Congenital Diaphragmatic Hernia (CDH) Recruiting NCT04583644
45 Study of Fetoscopic Endoluminal Tracheal Occlusion (FETO) in Fetuses With Severe Left Congenital Diaphragmatic Hernia (CDH) Recruiting NCT02710968
46 Pilot Trial of Fetoscopic Endoluminal Tracheal Occlusion (FETO) in Severe Left Congenital Diaphragmatic Hernia (CDH) Recruiting NCT02596802
47 ECHO-CDH - Exploratory Observational Prospective Study in Neonatal and Pediatric Congenital Diaphragmatic Hernia Recruiting NCT04114578
48 Feto-Endoscopic Tracheal Occlusion (FETO) for Left Congenital Diaphragmatic Hernia Recruiting NCT02986087
49 The Role of 3D Images and Models to Aid Management of Cases of Congenital Diaphragmatic Hernia Diagnosed in the Antenatal Period. Consecutive Patients Studied From Diagnosis to Post Operative Period. Recruiting NCT03750266
50 Pilot Trial of Fetoscopic Endoluminal Tracheal Occlusion (FETO) in Severe Right and Left Congenital Diaphragmatic Hernia (CDH) Recruiting NCT03674372

Search NIH Clinical Center for Diaphragmatic Hernia, Congenital

Cochrane evidence based reviews: hernia, diaphragmatic

Genetic Tests for Diaphragmatic Hernia, Congenital

Genetic tests related to Diaphragmatic Hernia, Congenital:

# Genetic test Affiliating Genes
1 Congenital Diaphragmatic Hernia 28

Anatomical Context for Diaphragmatic Hernia, Congenital

Organs/tissues related to Diaphragmatic Hernia, Congenital:

MalaCards : Lung, Heart, Fetal Lung, Liver, Colon, Kidney, Smooth Muscle

Publications for Diaphragmatic Hernia, Congenital

Articles related to Diaphragmatic Hernia, Congenital:

(show top 50) (show all 11544)
# Title Authors PMID Year
1
De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders. 62 24 5
30532227 2018
2
The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia. 62 24 57
29618029 2018
3
Genetic aspects of human congenital diaphragmatic hernia. 62 24 57
18510546 2008
4
Infants with Bochdalek diaphragmatic hernia: sibling precurrence and monozygotic twin discordance in a hospital-based malformation surveillance program. 62 24 57
16094667 2005
5
Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia. 62 5
24385578 2014
6
Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia. 62 57
21525063 2011
7
Characterization of the chromosome 1q41q42.12 region, and the candidate gene DISP1, in patients with CDH. 62 57
20799323 2010
8
Population-based analysis of left- and right-sided diaphragmatic hernias demonstrates different frequencies of selected additional anomalies. 62 57
18008313 2007
9
Candidate genes for congenital diaphragmatic hernia from animal models: sequencing of FOG2 and PDGFRalpha reveals rare variants in diaphragmatic hernia patients. 62 57
17568391 2007
10
Genetic factors in congenital diaphragmatic hernia. 62 57
17436238 2007
11
Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: mapping of four CDH-critical regions and sequencing of candidate genes at 15q26.1-15q26.2. 62 57
16736036 2006
12
Congenital diaphragmatic hernia associated with duplication of 11q23-qter. 62 57
16770801 2006
13
Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): a possible locus for Fryns syndrome. 62 57
16333846 2006
14
Narrowing the candidate region for congenital diaphragmatic hernia in chromosome 15q26: contradictory results. 62 57
16252246 2005
15
Mouse lacking COUP-TFII as an animal model of Bochdalek-type congenital diaphragmatic hernia. 62 57
16251273 2005
16
Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1. 62 57
16141010 2005
17
Congenital diaphragmatic hernia and chromosome 15q26: determination of a candidate region by use of fluorescent in situ hybridization and array-based comparative genomic hybridization. 62 57
15750894 2005
18
Congenital diaphragmatic hernia: is 15q26.1-26.2 a candidate locus? 62 57
15057983 2004
19
A genetic model for a central (septum transversum) congenital diaphragmatic hernia in mice lacking Slit3. 62 57
12702769 2003
20
Unilateral agenesis of the diaphragm: a separate entity or an extremely large defect? 62 57
10370024 1999
21
Congenital diaphragmatic hernia with probable autosomal recessive inheritance in an extended consanguineous Pakistani pedigree. 62 57
9222974 1997
22
Long-term outlook for survivors of congenital diaphragmatic hernia. 62 57
8982576 1996
23
Congenital diaphragmatic hernia. Epidemiology and outcome. 62 57
8982563 1996
24
Severe microphthalmia, diaphragmatic hernia and Fallot's tetralogy associated with a chromosome 1;15 translocation. 62 57
7894732 1994
25
A prospective study of the outcome for fetuses with diaphragmatic hernia. 62 57
8054005 1994
26
Familial congenital diaphragmatic hernia: prenatal diagnosis, management, and outcome. 62 57
8309897 1993
27
Unusual varieties of diaphragmatic herniae. 62 57
1907381 1991
28
Association of a new chromosomal deletion [del(1)(q32q42)] with diaphragmatic hernia: assignment of a human ferritin gene. 62 57
3162227 1988
29
Familial diaphragmatic defects: early prenatal diagnosis and evidence for major gene inheritance. 62 57
3146286 1986
30
Familial congenital diaphragmatic defects: aspects of etiology, prenatal diagnosis, and treatment. 62 57
6702899 1984
31
Familial occurrence of congenital diaphragmatic defect in three families. 62 57
7118561 1982
32
Familial congenital diaphragmatic defect: review and conclusions. 62 57
6993337 1980
33
Outcomes of Congenital Diaphragmatic Hernia in One of the Twins. 62 24
30609432 2019
34
Prenatal profile of Pallister-Killian syndrome: Retrospective analysis of 114 pregnancies, literature review and approach to prenatal diagnosis. 62 24
30289601 2018
35
Defining outcomes following congenital diaphragmatic hernia using standardised clinical assessment and management plan (SCAMP) methodology within the CDH EURO consortium. 62 24
29915407 2018
36
Prenatal Diagnosis of Congenital Diaphragmatic Hernia: Does Laterality Predict Perinatal Outcomes? 62 24
29304545 2018
37
PBX transcription factors drive pulmonary vascular adaptation to birth. 62 24
29251627 2018
38
Epidemiology and Prognosis of Congenital Diaphragmatic Hernia: A Population-Based Cohort Study in Utah. 62 24
28925604 2017
39
Procedure-Related Complications and Survival Following Fetoscopic Endotracheal Occlusion (FETO) for Severe Congenital Diaphragmatic Hernia: Systematic Review and Meta-Analysis in the FETO Era. 62 24
27522127 2017
40
Genome-wide enrichment of damaging de novo variants in patients with isolated and complex congenital diaphragmatic hernia. 62 24
28303347 2017
41
Congenital diaphragmatic hernia-associated pulmonary hypertension. 62 24
28641752 2017
42
ECMO in CDH: Is there a role? 62 24
28641755 2017
43
Whole-Exome Sequencing in Nine Monozygotic Discordant Twins. 62 24
26681452 2016
44
Standardized Postnatal Management of Infants with Congenital Diaphragmatic Hernia in Europe: The CDH EURO Consortium Consensus - 2015 Update. 62 24
27077664 2016
45
Clinical characteristics and outcomes of patients with right congenital diaphragmatic hernia: A population-based study. 62 24
25783377 2015
46
Prevalence and penetrance of ZFPM2 mutations and deletions causing congenital diaphragmatic hernia. 62 24
24702427 2015
47
ASSOCIATED NON DIAPHRAGMATIC ANOMALIES AMONG CASES WITH CONGENITAL DIAPHRAGMATIC HERNIA. 62 24
26625659 2015
48
Variants in GATA4 are a rare cause of familial and sporadic congenital diaphragmatic hernia. 62 24
23138528 2013
49
Premature differentiation of vascular smooth muscle cells in human congenital diaphragmatic hernia. 62 24
23018129 2013
50
Sensorineural hearing loss and language development following neonatal extracorporeal membrane oxygenation. 62 24
23249782 2013

Variations for Diaphragmatic Hernia, Congenital

ClinVar genetic disease variations for Diaphragmatic Hernia, Congenital:

5 (show top 50) (show all 55)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GATA6 NM_005257.6(GATA6):c.712G>T (p.Gly238Ter) SNV Pathogenic
156010 rs587777710 GRCh37: 18:19751817-19751817
GRCh38: 18:22171856-22171856
2 GATA6 NM_005257.6(GATA6):c.1072del (p.Val358fs) DEL Pathogenic
156011 rs1555628863 GRCh37: 18:19752176-19752176
GRCh38: 18:22172215-22172215
3 GATA6 NM_005257.6(GATA6):c.1366C>T (p.Arg456Cys) SNV Pathogenic
30213 rs387906818 GRCh37: 18:19761477-19761477
GRCh38: 18:22181516-22181516
4 CDK8 NM_001260.3(CDK8):c.185C>A (p.Ser62Ter) SNV Pathogenic
631491 rs1565977796 GRCh37: 13:26911760-26911760
GRCh38: 13:26337623-26337623
5 PLS3 NM_005032.7(PLS3):c.617C>T (p.Ala206Val) SNV Pathogenic
1195979 GRCh37: X:114869227-114869227
GRCh38: X:115634915-115634915
6 PLS3 NM_005032.7(PLS3):c.1054T>C (p.Phe352Leu) SNV Pathogenic
1195980 GRCh37: X:114877691-114877691
GRCh38: X:115643379-115643379
7 PGAP3 NM_033419.5(PGAP3):c.851A>G (p.His284Arg) SNV Pathogenic
599004 rs776720232 GRCh37: 17:37829352-37829352
GRCh38: 17:39673099-39673099
8 FRAS1 NM_025074.7(FRAS1):c.9806G>A (p.Arg3269Gln) SNV Risk Factor
198348 rs61729366 GRCh37: 4:79432453-79432453
GRCh38: 4:78511299-78511299
9 FBN1 NM_000138.5(FBN1):c.4970_4971insA (p.Cys1658fs) INSERT Likely Pathogenic
218938 rs864309713 GRCh37: 15:48756190-48756191
GRCh38: 15:48463993-48463994
10 NIPBL NM_133433.4(NIPBL):c.1811_1812del (p.Lys603_Ser604insTer) DEL Likely Pathogenic
374171 rs1057518944 GRCh37: 5:36985092-36985093
GRCh38: 5:36984990-36984991
11 MYRF NM_001127392.3(MYRF):c.2036T>C (p.Val679Ala) SNV Likely Pathogenic
996604 rs2066476390 GRCh37: 11:61546757-61546757
GRCh38: 11:61779285-61779285
12 MYRF NM_001127392.3(MYRF):c.2084G>A (p.Arg695His) SNV Likely Pathogenic
619229 rs1382225004 GRCh37: 11:61546805-61546805
GRCh38: 11:61779333-61779333
13 MYRF NM_001127392.3(MYRF):c.1904-1G>A SNV Likely Pathogenic
996605 rs2066445430 GRCh37: 11:61545851-61545851
GRCh38: 11:61778379-61778379
14 MYRF NM_001127392.3(MYRF):c.1209G>C (p.Gln403His) SNV Likely Pathogenic
996607 rs1027079885 GRCh37: 11:61541532-61541532
GRCh38: 11:61774060-61774060
15 MYRF NM_001127392.3(MYRF):c.239dup (p.Gly81fs) DUP Likely Pathogenic
996740 rs2066051319 GRCh37: 11:61533529-61533530
GRCh38: 11:61766057-61766058
16 MYRF NM_001127392.3(MYRF):c.1303G>A (p.Gly435Arg) SNV Likely Pathogenic
619228 rs1565295550 GRCh37: 11:61541626-61541626
GRCh38: 11:61774154-61774154
17 FREM2 NM_207361.6(FREM2):c.4031G>A (p.Arg1344His) SNV Risk Factor
Likely Pathogenic
311971 rs143044921 GRCh37: 13:39265512-39265512
GRCh38: 13:38691375-38691375
18 ROBO4 NM_019055.6(ROBO4):c.569G>C (p.Gly190Ala) SNV Risk Factor
369979 rs756636036 GRCh37: 11:124766204-124766204
GRCh38: 11:124896308-124896308
19 FRAS1 NM_025074.7(FRAS1):c.2389G>A (p.Glu797Lys) SNV Risk Factor
369975 rs372359356 GRCh37: 4:79258938-79258938
GRCh38: 4:78337784-78337784
20 FREM2 NM_207361.6(FREM2):c.4994C>T (p.Ser1665Phe) SNV Risk Factor
369977 rs1555261576 GRCh37: 13:39266475-39266475
GRCh38: 13:38692338-38692338
21 FREM2 NM_207361.6(FREM2):c.5940_5942del (p.Leu1981del) DEL Likely Pathogenic
369974 rs775394591 GRCh37: 13:39358864-39358866
GRCh38: 13:38784727-38784729
22 FRAS1 NM_025074.7(FRAS1):c.6323A>T (p.Asp2108Val) SNV Risk Factor
369978 rs921444831 GRCh37: 4:79371353-79371353
GRCh38: 4:78450199-78450199
23 GLI3 NM_000168.6(GLI3):c.2726C>G (p.Ala909Gly) SNV Risk Factor
369976 rs780263938 GRCh37: 7:42005945-42005945
GRCh38: 7:41966347-41966347
24 DEPDC5 NM_001242896.3(DEPDC5):c.2785G>A (p.Gly929Ser) SNV Uncertain Significance
599003 rs1569084151 GRCh37: 22:32239782-32239782
GRCh38: 22:31843796-31843796
25 MN1 NM_002430.3(MN1):c.3839del (p.Cys1280fs) DEL Uncertain Significance
816905 rs1601319594 GRCh37: 22:28147027-28147027
GRCh38: 22:27751039-27751039
26 FGFRL1 NM_001004356.3(FGFRL1):c.886A>G (p.Ile296Val) SNV Uncertain Significance
992572 rs753437773 GRCh37: 4:1018266-1018266
GRCh38: 4:1024478-1024478
27 FGFRL1 NM_001004356.3(FGFRL1):c.1328G>C (p.Gly443Ala) SNV Uncertain Significance
992573 rs759581394 GRCh37: 4:1018948-1018948
GRCh38: 4:1025160-1025160
28 PAX3 NM_181458.4(PAX3):c.944C>A (p.Thr315Lys) SNV Uncertain Significance
218940 rs2234675 GRCh37: 2:223085955-223085955
GRCh38: 2:222221236-222221236
29 FREM1 NM_001379081.2(FREM1):c.1394G>C (p.Gly465Ala) SNV Uncertain Significance
218939 rs41298151 GRCh37: 9:14842658-14842658
GRCh38: 9:14842660-14842660
30 LPP and overlap with 1 gene(s) GRCh38/hg38 3q28(chr3:188671476-188811213) CN LOSS Uncertain Significance
1338824 GRCh37:
GRCh38: 3:188671476-188811213
31 overlap with 2 genes GRCh38/hg38 4p16.3(chr4:59690-133521) CN GAIN Uncertain Significance
1338825 GRCh37:
GRCh38: 4:59690-133521
32 DUSP22 GRCh38/hg38 6p25.3(chr6:259345-293593) CN GAIN Uncertain Significance
1338826 GRCh37:
GRCh38: 6:259345-293593
33 overlap with 6 genes GRCh38/hg38 15q13.2(chr15:30097840-30527284) CN LOSS Uncertain Significance
1338827 GRCh37:
GRCh38: 15:30097840-30527284
34 overlap with 3 genes GRCh38/hg38 17q21.31(chr17:46130641-46273757) CN GAIN Uncertain Significance
1338828 GRCh37:
GRCh38: 17:46130641-46273757
35 ATP7A GRCh38/hg38 Xq21.1(chrX:77914739-77914775) CN LOSS Uncertain Significance
1338829 GRCh37:
GRCh38: X:77914739-77914775
36 overlap with 16 genes GRCh38/hg38 13q12.3(chr13:30194283-31591879) CN LOSS Uncertain Significance
1338830 GRCh37:
GRCh38: 13:30194283-31591879
37 overlap with 4 genes GRCh38/hg38 17q23.2(chr17:61778623-62006540) CN LOSS Uncertain Significance
1338831 GRCh37:
GRCh38: 17:61778623-62006540
38 overlap with 28 genes GRCh38/hg38 1q32.3(chr1:212337801-213362035) CN LOSS Uncertain Significance
1338832 GRCh37:
GRCh38: 1:212337801-213362035
39 SGCZ GRCh38/hg38 8p22(chr8:13974643-14229824) CN LOSS Uncertain Significance
1338834 GRCh37:
GRCh38: 8:13974643-14229824
40 overlap with 4 genes GRCh38/hg38 12q24.33(chr12:132804406-132944910) CN LOSS Uncertain Significance
1338835 GRCh37:
GRCh38: 12:132804406-132944910
41 CNTNAP2 GRCh38/hg38 7q35(chr7:146062109-146215075) CN LOSS Uncertain Significance
1338836 GRCh37:
GRCh38: 7:146062109-146215075
42 overlap with 9 genes GRCh38/hg38 Xp22.2(chrX:11240104-11903527) CN GAIN Uncertain Significance
1338837 GRCh37:
GRCh38: X:11240104-11903527
43 overlap with 3 genes GRCh38/hg38 8p22(chr8:13396389-13807983) CN GAIN Uncertain Significance
1338838 GRCh37:
GRCh38: 8:13396389-13807983
44 TENM1 GRCh38/hg38 Xq25(chrX:124702470-124997671) CN GAIN Uncertain Significance
1338840 GRCh37:
GRCh38: X:124702470-124997671
45 overlap with 5 genes GRCh38/hg38 6p21.31(chr6:34587317-34856828) CN GAIN Uncertain Significance
1338841 GRCh37:
GRCh38: 6:34587317-34856828
46 overlap with 6 genes GRCh38/hg38 7p21.3(chr7:10609869-11290301) CN GAIN Uncertain Significance
1338842 GRCh37:
GRCh38: 7:10609869-11290301
47 overlap with 9 genes GRCh38/hg38 7q11.21(chr7:66791158-67272772) CN GAIN Uncertain Significance
1338843 GRCh37:
GRCh38: 7:66791158-67272772
48 GHR and overlap with 1 gene(s) GRCh38/hg38 5p12(chr5:42502606-42696476) CN GAIN Uncertain Significance
1338844 GRCh37:
GRCh38: 5:42502606-42696476
49 overlap with 4 genes GRCh38/hg38 13q13.3(chr13:38940342-39433293) CN GAIN Uncertain Significance
1338846 GRCh37:
GRCh38: 13:38940342-39433293
50 overlap with 7 genes GRCh38/hg38 7q21.13(chr7:89998146-90352986) CN GAIN Uncertain Significance
1338847 GRCh37:
GRCh38: 7:89998146-90352986

Copy number variations for Diaphragmatic Hernia, Congenital from CNVD:

6 (show top 50) (show all 94)
# CNVD ID Chromosome 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 CCDC185 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 GPRC5A 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 ATXN8OS 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 HDGFL3 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 Diaphragmatic Hernia, Congenital

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

Pathways for Diaphragmatic Hernia, Congenital

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

# Super pathways Score Top Affiliating Genes
1 10.46 FREM2 FRAS1 FGF7 FBN1 ELN
2 10.45 WT1 GLI3 FRAS1
3
Show member pathways
9.96 NKX2-1 GLI3

GO Terms for Diaphragmatic Hernia, Congenital

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of DNA-templated transcription GO:0045892 10.37 ZFPM2 WT1 NKX2-1 NIPBL GLI3 GATA6
2 positive regulation of DNA-templated transcription GO:0045893 10.36 FGF7 GATA6 GLI3 MYRF NKX2-1 WT1
3 oligodendrocyte differentiation GO:0048709 9.97 NKX2-1 MYRF GLI3
4 metanephros development GO:0001656 9.93 NIPBL GLI3 FBN1
5 anatomical structure morphogenesis GO:0009653 9.92 ZFPM2 GATA6 FREM2 FRAS1 FBN1
6 positive regulation of male gonad development GO:2000020 9.88 ZFPM2 WT1
7 diaphragm development GO:0060539 9.88 WT1 STRA6
8 lung saccule development GO:0060430 9.87 NKX2-1 GATA6
9 forebrain dorsal/ventral pattern formation GO:0021798 9.86 NKX2-1 GLI3
10 developmental growth GO:0048589 9.85 STRA6 NIPBL GLI3
11 cellular response to gonadotropin stimulus GO:0071371 9.84 WT1 GATA6
12 uterus morphogenesis GO:0061038 9.83 STRA6 NIPBL
13 type II pneumocyte differentiation GO:0060510 9.81 NKX2-1 GATA6
14 camera-type eye development GO:0043010 9.8 FBN1 GLI3 STRA6 WT1
15 anatomical structure formation involved in morphogenesis GO:0048646 9.78 NKX2-1 GLI3
16 club cell differentiation GO:0060486 9.78 GATA6 NKX2-1
17 kidney development GO:0001822 9.76 WT1 STRA6 GLI3 FREM2 FBN1
18 negative regulation of female gonad development GO:2000195 9.73 ZFPM2 WT1
19 nose morphogenesis GO:0043585 9.71 STRA6 GLI3
20 lung development GO:0030324 9.65 ZFPM2 STRA6 NKX2-1 GLI3 FGF7
21 system development GO:0048731 9.6 ZFPM2 GATA6
22 heart development GO:0007507 9.44 ZFPM2 WT1 STRA6 NIPBL GLI3 FREM2

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix constituent conferring elasticity GO:0030023 9.46 FBN1 ELN
2 sequence-specific DNA binding GO:0043565 9.28 WT1 NKX2-1 MYRF LONP1 GLI3 GATA6
3 mediator complex binding GO:0036033 9.26 NIPBL GLI3

Sources for Diaphragmatic Hernia, Congenital

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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