AORTIC ANEURYSM, FAMILIAL THORACIC 7
General Information (adopted from Orphanet):
Synonyms, Signs: |
AORTIC DISSECTION, FAMILIAL, WITH OR WITHOUT AORTIC ANEURYSM AAT7 |
Number of Symptoms | 3 |
OrphanetNr: | |
OMIM Id: |
613780
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ICD-10: |
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UMLs: |
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MeSH: |
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MedDRA: |
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Snomed: |
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Prevalence, inheritance and age of onset:
Prevalence: | No data available. |
Inheritance: |
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Age of onset: |
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Disease classification (adopted from Orphanet):
Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0001724) | Aortic dilatation | 24 / 7739 | ||||
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(HPO:0004942) | Aortic aneurysm | 10 / 7739 | ||||
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(HPO:0002647) | Aortic dissection | 14 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
Molecular genetics OMIM |
Wang et al. (2010) analyzed the MYLK gene in 193 probands from unrelated families in which 2 or more members had thoracic aortic aneurysms or dissections. They identified 2 heterozygous variants (600922.0001 and 600922.0002) that segregated with aortic ... |