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Diaphragmatic Hernia, Congenital (CDH)
Alias:
Congenital Diaphragmatic Hernia
|
Diaphragmatic Hernia
|
Cdh
|
Congenital Diaphragm Defect with Hernia
|
Diaphragm, Unilateral Agenesis of
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Gross Congenital Diaphragm Defect
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Hernia, Congenital Diaphragmatic
|
Diaphragmatic Defect, Congenital
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Congenital Diaphragmatic Defect
|
Hernia Diaphragmatic Congenital
|
Congenital Diaphragm Hernia
|
Hemidiaphragm, Agenesis of
|
Oesophageal Hiatus Hernia
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Paraoesophageal Hernia
|
Hernia, Diaphragmatic
|
Sliding Hiatus Hernia
|
Hernia Diaphragmatic
|
Hiatus Hernia
|
Dih
|
Hcd
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Congenital diaphragmatic hernia (CDH) is a birth defect characterized by a structural issue in the diaphragm, allowing abdominal organs to move into the chest cavity. This can lead to respiratory insufficiency and pulmonary hypertension, with a mortality rate of 30 to 60%. CDH may range from a thinned area in the diaphragm to its complete absence, affecting lung development and causing breathing difficulties at birth. Most cases are sporadic, and it is rarely inherited. Different types of CDH include Bochdalek hernia, Morgagni hernia, diaphragm eventration, and central tendon defects. Some individuals may not show symptoms until later in life, with 5 to 10% experiencing breathing problems or abdominal pain. CDH can be associated with genetic changes, chromosome abnormalities, or other birth defects.
Related ID:
Basic Information
Inheritance | Age of Onset | Prevalence | Related Genes | Related Mouse Models | Reference | MALACARDS |
|---|---|---|---|---|---|---|
Ot Other | Newborn | 1-5/10000 Prevalence at birth: 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) | 89 | 789 | 44 |
Medical Symptom
Phenotype Information Associated with the Current Disease:
Categorization: Anatomical classification of the disease manifestations.
HPO Frequency/Orphanet Frequency: Indicates the probability of the manifestation occurring in the current disease, allowing sorting by probability.
HPO Source Accession: Links to HPO for detailed manifestation information.
Data Source: HPO, Orphanet
Gene & Mutation
Genes and Mutations Associated with the Current Disease:
Function: Primary biological roles of the genes.
Score: Indicates the strength of the association between the disease and the gene, with higher scores reflecting stronger associations.
Count: Number of mutations associated with the disease-gene pair. The number in parentheses represents the total data points linked to the same ClinVar ID. Clicking the number reveals mutation details.
Data Source: Clinvar
Related Drugs
Drugs Related to the Current Gene, Displaying CAS Number, Status and Phase.
Data Source: Clinical Trials
Related Mouse Models
Mouse Models Related to the Current Gene. Click on the model name to view detailed information.
Data Source: MGI, Cyagen
References Literature
Most Relevant Literature for the Current Gene, Filterable by Year, Article Type, and Sortable by Impact Factor.
Data Source: UniProt, PubMed