Autosomal dominant coarctation of aorta
General Information (adopted from Orphanet):
Synonyms, Signs:
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|
Number of Symptoms
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4
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OrphanetNr:
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1455
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OMIM Id:
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|
ICD-10:
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Q25.1
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UMLs:
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C2930803
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MeSH:
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C531623
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MedDRA:
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|
Snomed:
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Prevalence, inheritance and age of onset:
Prevalence:
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No data available.
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Inheritance:
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Autosomal dominant
[Orphanet]
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Age of onset:
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Childhood
[Orphanet]
|
Disease classification (adopted from Orphanet):
Parent Diseases:
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Aorta coarctation
-Rare developmental defect during embryogenesis
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|
|
|
|
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|
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1
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(HPO:0001643)
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Patent ductus arteriosus |
Frequent [Orphanet]
|
|
|
|
228 / 7739
|
2
|
(HPO:0001629)
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Ventricular septal defect |
Frequent [Orphanet]
|
|
|
|
316 / 7739
|
3
|
(HPO:0004383)
|
Hypoplastic left heart |
Frequent [Orphanet]
|
|
|
|
29 / 7739
|
4
|
(HPO:0012303)
|
Abnormality of the aortic arch |
Frequent [Orphanet]
|
|
|
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57 / 7739
|
ClinVar (via SNiPA)
Gene symbol |
Variation |
Clinical significance |
Reference |