Diaphragmatic Hernia, Congenital disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases
Anatomical: Gastrointestinal diseases Respiratory diseases Muscle diseases

See all MalaCards categories (disease lists)

ICD10: ³¹ ³²

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

Congenital malformations of the musculoskeletal system, not elsewhere classified

Congenital diaphragmatic hernia

Diseases of the digestive system

Hernia

Diaphragmatic hernia

Diaphragmatic hernia with gangrene

Diaphragmatic hernia with obstruction, without gangrene

Diaphragmatic hernia without obstruction or gangrene

ICD11: ³³

Developmental anomalies

Structural developmental anomalies primarily affecting one body system

Structural developmental anomalies of the diaphragm, abdominal wall or umbilical cord

Structural developmental anomalies of diaphragm

Congenital diaphragmatic hernia

Diseases of the digestive system

Hernias

Non-abdominal wall hernia

Diaphragmatic hernia

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

ICD10 ³¹ K44 K44.0 K44.1 more

MESH via Orphanet ⁴⁴ C538080

ICD10 via Orphanet ³² Q79.0

UMLS via Orphanet ⁷² C0235833

Orphanet ⁵⁸ ORPHA2140

MedGen ⁴⁰ C0235833

SNOMED-CT via HPO ⁶⁹ 17190001 230145002 253789002 more

EFO ¹⁶ EFO_0007216 EFO_0008561

ICD11 ³³ 1414428936 453532731

UMLS ⁷¹ C0019284

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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

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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:

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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

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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

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Genetic Tests for Diaphragmatic Hernia, Congenital

Genetic tests related to Diaphragmatic Hernia, Congenital:

#	Genetic test	Affiliating Genes
1	Congenital Diaphragmatic Hernia ²⁸

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Anatomical Context for Diaphragmatic Hernia, Congenital

Organs/tissues related to Diaphragmatic Hernia, Congenital:

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

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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	Qi H...Shen Y	30532227	2018
2	The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia. ⁶² ²⁴ ⁵⁷	Jordan VK...Scott DA	29618029	2018
3	Genetic aspects of human congenital diaphragmatic hernia. ⁶² ²⁴ ⁵⁷	Pober BR	18510546	2008
4	Infants with Bochdalek diaphragmatic hernia: sibling precurrence and monozygotic twin discordance in a hospital-based malformation surveillance program. ⁶² ²⁴ ⁵⁷	Pober BR...Holmes LB	16094667	2005
5	Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia. ⁶² ⁵	Yu L...Chung WK	24385578	2014
6	Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia. ⁶² ⁵⁷	Wat MJ...Scott DA	21525063	2011
7	Characterization of the chromosome 1q41q42.12 region, and the candidate gene DISP1, in patients with CDH. ⁶² ⁵⁷	Kantarci S...Pober BR	20799323	2010
8	Population-based analysis of left- and right-sided diaphragmatic hernias demonstrates different frequencies of selected additional anomalies. ⁶² ⁵⁷	Slavotinek AM...Shaw GM	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	Bleyl SB...Slavotinek AM	17568391	2007
10	Genetic factors in congenital diaphragmatic hernia. ⁶² ⁵⁷	Holder AM...Scott DA	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	Slavotinek AM...Pennacchio LA	16736036	2006
12	Congenital diaphragmatic hernia associated with duplication of 11q23-qter. ⁶² ⁵⁷	Klaassens M...de Klein A	16770801	2006
13	Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): a possible locus for Fryns syndrome. ⁶² ⁵⁷	Kantarci S...Pober BR	16333846	2006
14	Narrowing the candidate region for congenital diaphragmatic hernia in chromosome 15q26: contradictory results. ⁶² ⁵⁷	Castiglia L...Failla P	16252246	2005
15	Mouse lacking COUP-TFII as an animal model of Bochdalek-type congenital diaphragmatic hernia. ⁶² ⁵⁷	You LR...Tsai MJ	16251273	2005
16	Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1. ⁶² ⁵⁷	Slavotinek A...Pinkel D	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	Klaassens M...de Klein A	15750894	2005
18	Congenital diaphragmatic hernia: is 15q26.1-26.2 a candidate locus? ⁶² ⁵⁷	Biggio JR...Holt RL	15057983	2004
19	A genetic model for a central (septum transversum) congenital diaphragmatic hernia in mice lacking Slit3. ⁶² ⁵⁷	Yuan W...Ornitz DM	12702769	2003
20	Unilateral agenesis of the diaphragm: a separate entity or an extremely large defect? ⁶² ⁵⁷	Baglaj M...Ashworth M	10370024	1999
21	Congenital diaphragmatic hernia with probable autosomal recessive inheritance in an extended consanguineous Pakistani pedigree. ⁶² ⁵⁷	Mitchell SJ...Redford DH	9222974	1997
22	Long-term outlook for survivors of congenital diaphragmatic hernia. ⁶² ⁵⁷	Nobuhara KK...Wilson JM	8982576	1996
23	Congenital diaphragmatic hernia. Epidemiology and outcome. ⁶² ⁵⁷	Langham MR...Richards DS	8982563	1996
24	Severe microphthalmia, diaphragmatic hernia and Fallot's tetralogy associated with a chromosome 1;15 translocation. ⁶² ⁵⁷	Smith SA...Young ID	7894732	1994
25	A prospective study of the outcome for fetuses with diaphragmatic hernia. ⁶² ⁵⁷	Harrison MR...Howell LJ	8054005	1994
26	Familial congenital diaphragmatic hernia: prenatal diagnosis, management, and outcome. ⁶² ⁵⁷	Narayan H...Neale E	8309897	1993
27	Unusual varieties of diaphragmatic herniae. ⁶² ⁵⁷	Stokes KB	1907381	1991
28	Association of a new chromosomal deletion [del(1)(q32q42)] with diaphragmatic hernia: assignment of a human ferritin gene. ⁶² ⁵⁷	Youssoufian H...Jabs EW	3162227	1988
29	Familial diaphragmatic defects: early prenatal diagnosis and evidence for major gene inheritance. ⁶² ⁵⁷	Bocian M...Weissberg DL	3146286	1986
30	Familial congenital diaphragmatic defects: aspects of etiology, prenatal diagnosis, and treatment. ⁶² ⁵⁷	Norio R...Kekomaki M	6702899	1984
31	Familial occurrence of congenital diaphragmatic defect in three families. ⁶² ⁵⁷	Gencik A...Kehrer B	7118561	1982
32	Familial congenital diaphragmatic defect: review and conclusions. ⁶² ⁵⁷	Wolff G	6993337	1980
33	Outcomes of Congenital Diaphragmatic Hernia in One of the Twins. ⁶² ²⁴	Wang W...Wang J	30609432	2019
34	Prenatal profile of Pallister-Killian syndrome: Retrospective analysis of 114 pregnancies, literature review and approach to prenatal diagnosis. ⁶² ²⁴	Salzano E...Krantz ID	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	IJsselstijn H...CDH EURO Consortium Group	29915407	2018
36	Prenatal Diagnosis of Congenital Diaphragmatic Hernia: Does Laterality Predict Perinatal Outcomes? ⁶² ²⁴	Sperling JD...Gonzalez JM	29304545	2018
37	PBX transcription factors drive pulmonary vascular adaptation to birth. ⁶² ²⁴	McCulley DJ...Sun X	29251627	2018
38	Epidemiology and Prognosis of Congenital Diaphragmatic Hernia: A Population-Based Cohort Study in Utah. ⁶² ²⁴	Shanmugam H...Feldkamp ML	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	Araujo Junior E...Ruano R	27522127	2017
40	Genome-wide enrichment of damaging de novo variants in patients with isolated and complex congenital diaphragmatic hernia. ⁶² ²⁴	Longoni M...Donahoe PK	28303347	2017
41	Congenital diaphragmatic hernia-associated pulmonary hypertension. ⁶² ²⁴	Harting MT	28641752	2017
42	ECMO in CDH: Is there a role? ⁶² ²⁴	Kays DW	28641755	2017
43	Whole-Exome Sequencing in Nine Monozygotic Discordant Twins. ⁶² ²⁴	Zhang R...Reutter H	26681452	2016
44	Standardized Postnatal Management of Infants with Congenital Diaphragmatic Hernia in Europe: The CDH EURO Consortium Consensus - 2015 Update. ⁶² ²⁴	Snoek KG...CDH EURO Consortium	27077664	2016
45	Clinical characteristics and outcomes of patients with right congenital diaphragmatic hernia: A population-based study. ⁶² ²⁴	Beaumier CK...Canadian Pediatric Surgery Network	25783377	2015
46	Prevalence and penetrance of ZFPM2 mutations and deletions causing congenital diaphragmatic hernia. ⁶² ²⁴	Longoni M...Donahoe PK	24702427	2015
47	ASSOCIATED NON DIAPHRAGMATIC ANOMALIES AMONG CASES WITH CONGENITAL DIAPHRAGMATIC HERNIA. ⁶² ²⁴	Stoll C...Roth MP	26625659	2015
48	Variants in GATA4 are a rare cause of familial and sporadic congenital diaphragmatic hernia. ⁶² ²⁴	Yu L...Chung WK	23138528	2013
49	Premature differentiation of vascular smooth muscle cells in human congenital diaphragmatic hernia. ⁶² ²⁴	Sluiter I...Rottier RJ	23018129	2013
50	Sensorineural hearing loss and language development following neonatal extracorporeal membrane oxygenation. ⁶² ²⁴	van den Hondel D...Ijsselstijn H	23249782	2013

Sources

Genes for Diaphragmatic Hernia, Congenital

Genes related to Diaphragmatic Hernia, Congenital (8 elite genes):

(show top 50) (show all 90)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	GATA6	GATA Binding Protein 6	Protein Coding	430.79	Pathogenic ⁵ Susceptibility factor ⁵⁸ DISEASES inferred ¹⁴	24385578
2	PGAP3	Post-GPI Attachment To Proteins Phospholipase 3	Protein Coding	404.21	Pathogenic ⁵ DISEASES inferred ¹⁴
3	PLS3	Plastin 3	Protein Coding	403.03	Pathogenic ⁵ DISEASES inferred ¹⁴
4	CDK8	Cyclin Dependent Kinase 8	Protein Coding	400	Pathogenic ⁵
5	DIH1	Diaphragmatic Hernia 1	Genetic Locus	50	Genetic linkage ⁵⁷
6	DIH2	Hernia, Congenital Diaphragmatic 2	Genetic Locus	50	MalaCards inferred ³⁹
7	ZFPM2	Zinc Finger Protein, FOG Family Member 2	Protein Coding	32.36	Susceptibility factor ⁵⁸ DISEASES inferred ¹⁴	21525063
8	LONP1	Lon Peptidase 1, Mitochondrial	Protein Coding	28.79	Susceptibility factor ⁵⁸ DISEASES inferred ¹⁴	34547244
9	MYRF	Myelin Regulatory Factor	Protein Coding	31.56	Likely pathogenic ⁵ DISEASES inferred ¹⁴	30532227
10	NIPBL	NIPBL Cohesin Loading Factor	Protein Coding	31.26	Likely pathogenic ⁵ DISEASES inferred ¹⁴
11	FREM2	FRAS1 Related Extracellular Matrix 2	Protein Coding	30.72	Likely pathogenic ⁵ DISEASES inferred ¹⁴
12	FRAS1	Fraser Extracellular Matrix Complex Subunit 1	Protein Coding	30.54	Risk factor ⁵ DISEASES inferred ¹⁴
13	FBN1	Fibrillin 1	Protein Coding	30.14	Likely pathogenic ⁵ DISEASES inferred ¹⁴
14	ROBO4	Roundabout Guidance Receptor 4	Protein Coding	29.15	Risk factor ⁵ DISEASES inferred ¹⁴
15	GLI3	GLI Family Zinc Finger 3	Protein Coding	29.03	Risk factor ⁵ DISEASES inferred ¹⁴
16	NKX2-1	NK2 Homeobox 1	Protein Coding	11.92	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	12194113 12378441 15764645
17	WT1	WT1 Transcription Factor	Protein Coding	10.55	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	15779010 16932893 18203154 (more) 7645607
18	FGF7	Fibroblast Growth Factor 7	Protein Coding	8.94	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	11150451 17676984
19	ELN	Elastin	Protein Coding	8.16	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	17303798
20	STRA6	Signaling Receptor And Transporter Of Retinol STRA6	Protein Coding	7.41	DISEASES inferred ¹⁴
21	NR2F2	Nuclear Receptor Subfamily 2 Group F Member 2	Protein Coding	7.06	DISEASES inferred ¹⁴
22	GRP	Gastrin Releasing Peptide	Protein Coding	6.88	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	8597825 9025890
23	GATA4	GATA Binding Protein 4	Protein Coding	6.82	DISEASES inferred ¹⁴
24	FREM1	FRAS1 Related Extracellular Matrix 1	Protein Coding	6.51	DISEASES inferred ¹⁴
25	PIGN	Phosphatidylinositol Glycan Anchor Biosynthesis Class N	Protein Coding	6.47	DISEASES inferred ¹⁴
26	NR2F1	Nuclear Receptor Subfamily 2 Group F Member 1	Protein Coding	6.45	DISEASES inferred ¹⁴
27	BLOC1S1	Biogenesis Of Lysosomal Organelles Complex 1 Subunit 1	Protein Coding	6.31	DISEASES inferred ¹⁴ ¹⁴
28	SLIT1	Slit Guidance Ligand 1	Protein Coding	6.28	DISEASES inferred ¹⁴
29	ALDH1A2	Aldehyde Dehydrogenase 1 Family Member A2	Protein Coding	6.26	DISEASES inferred ¹⁴
30	SFTPB	Surfactant Protein B	Protein Coding	6.18	DISEASES inferred ¹⁴
31	FGF10	Fibroblast Growth Factor 10	Protein Coding	6.17	DISEASES inferred ¹⁴
32	SOX7	SRY-Box Transcription Factor 7	Protein Coding	6.15	DISEASES inferred ¹⁴
33	TMEM98	Transmembrane Protein 98	Protein Coding	6.07	DISEASES inferred ¹⁴
34	GAPDH	Glyceraldehyde-3-Phosphate Dehydrogenase	Protein Coding	6.03	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	16626602
35	SFTPC	Surfactant Protein C	Protein Coding	6.02	DISEASES inferred ¹⁴
36	DISP1	Dispatched RND Transporter Family Member 1	Protein Coding	6	DISEASES inferred ¹⁴
37	DYNLT2	Dynein Light Chain Tctex-Type 2	Protein Coding	5.94	DISEASES inferred ¹⁴
38	SLIT3	Slit Guidance Ligand 3	Protein Coding	5.91	DISEASES inferred ¹⁴
39	LRP2	LDL Receptor Related Protein 2	Protein Coding	5.82	DISEASES inferred ¹⁴
40	PDE5A	Phosphodiesterase 5A	Protein Coding	5.76	DISEASES inferred ¹⁴
41	EFNB1	Ephrin B1	Protein Coding	5.76	DISEASES inferred ¹⁴
42	HLX	H2.0 Like Homeobox	Protein Coding	5.74	DISEASES inferred ¹⁴
43	PIGW	Phosphatidylinositol Glycan Anchor Biosynthesis Class W	Protein Coding	5.74	DISEASES inferred ¹⁴
44	PORCN	Porcupine O-Acyltransferase	Protein Coding	5.73	DISEASES inferred ¹⁴
45	SHH	Sonic Hedgehog Signaling Molecule	Protein Coding	5.72	DISEASES inferred ¹⁴
46	EDN1	Endothelin 1	Protein Coding	5.66	DISEASES inferred ¹⁴
47	RBP1	Retinol Binding Protein 1	Protein Coding	5.65	DISEASES inferred ¹⁴
48	EDNRA	Endothelin Receptor Type A	Protein Coding	5.62	DISEASES inferred ¹⁴
49	SMC1A	Structural Maintenance Of Chromosomes 1A	Protein Coding	5.62	DISEASES inferred ¹⁴
50	TMX3	Thioredoxin Related Transmembrane Protein 3	Protein Coding	5.58	DISEASES inferred ¹⁴

Sources

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

Sources

Expression for Diaphragmatic Hernia, Congenital

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

Sources

Pathways for Diaphragmatic Hernia, Congenital

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

#	Super pathways	Score	Top Affiliating Genes
1	G-protein signaling_Rap2B regulation pathway ²²	10.46	FREM2 FRAS1 FGF7 FBN1 ELN
2	Development of ureteric collection system ⁷⁴	10.45	WT1 GLI3 FRAS1
3	Tgif disruption of Shh signaling ⁷⁴ Show member pathways mir34a and TGIF2 in osteoclastogenesis ⁷⁴	9.96	NKX2-1 GLI3

Sources

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

Sources for Diaphragmatic Hernia, Congenital

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

CDH MCID: DPH024 MIFTS: 66	Diaphragmatic Hernia, Congenital (CDH) Categories: Fetal diseases, Gastrointestinal diseases, Genetic diseases, Muscle diseases, Rare diseases, Respiratory diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs Expand all tables

Diaphragmatic Hernia, Congenital (CDH)

Aliases & Classifications for Diaphragmatic Hernia, Congenital

MalaCards integrated aliases for Diaphragmatic Hernia, Congenital:

Characteristics:

Inheritance:

Prevelance:

Age Of Onset:

Classifications:

External Ids:

Summaries for Diaphragmatic Hernia, Congenital

Related Diseases for Diaphragmatic Hernia, Congenital

Diseases in the Hernia, Anterior Diaphragmatic family:

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

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

Symptoms & Phenotypes for Diaphragmatic Hernia, Congenital

Human phenotypes related to Diaphragmatic Hernia, Congenital:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

MGI Mouse Phenotypes related to Diaphragmatic Hernia, Congenital:

Drugs & Therapeutics for Diaphragmatic Hernia, Congenital

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

Interventional clinical trials:

Cochrane evidence based reviews: hernia, diaphragmatic

Genetic Tests for Diaphragmatic Hernia, Congenital

Genetic tests related to Diaphragmatic Hernia, Congenital:

Anatomical Context for Diaphragmatic Hernia, Congenital

Organs/tissues related to Diaphragmatic Hernia, Congenital:

Publications for Diaphragmatic Hernia, Congenital

Articles related to Diaphragmatic Hernia, Congenital:

Genes for Diaphragmatic Hernia, Congenital

Genes related to Diaphragmatic Hernia, Congenital (8 elite genes):

Variations for Diaphragmatic Hernia, Congenital

ClinVar genetic disease variations for Diaphragmatic Hernia, Congenital:

Copy number variations for Diaphragmatic Hernia, Congenital from CNVD:

Expression for Diaphragmatic Hernia, Congenital

Pathways for Diaphragmatic Hernia, Congenital

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

GO Terms for Diaphragmatic Hernia, Congenital

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

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

Sources for Diaphragmatic Hernia, Congenital