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1 associated gene
No signs/symptoms info
COMMON GENES: 1
8 OMIM references -
9 associated genes
No signs/symptoms info
Progeroid and marfanoid aspect-lipodystrophy syndrome
Familial thoracic aortic aneurysm and aortic dissection

FBN1 ACTA2
FBN1
MYH11
MYLK
PRKG1
SMAD3
TGFB2
TGFBR1
TGFBR2


COMMON
GENES
FBN1



Citations in the biomedical literature:


Progeroid and marfanoid aspect-lipodystrophy syndrome
FBN1
Familial thoracic aortic aneurysm and aortic dissection
ACTA2 MYH11 MYLK PRKG1 SMAD3
TGFB2 TGFBR1 TGFBR2



Progeroid and marfanoid aspect-lipodystrophy syndrome
Familial thoracic aortic aneurysm and aortic dissection

Synonym(s):
(no synonyms)

Synonym(s):
- Familial TAAD

Classification (Orphanet):
- Rare genetic disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Rare circulatory system disease
- Rare genetic disease
- Rare surgical thoracic disease
- Rare systemic or rheumatologic disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Diseases of the circulatory system -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant

External references:
No OMIM references
No MeSH references
External references:
8 OMIM references -
No MeSH references

No signs/symptoms info available.