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PROTEIN INTERACTIONS: 1
8 OMIM references -
9 associated genes
No signs/symptoms info
Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion
Familial thoracic aortic aneurysm and aortic dissection

FOXL2 ACTA2
FBN1
MYH11
MYLK
PRKG1
SMAD3
TGFB2
TGFBR1
TGFBR2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FOXL2
(0.63)
SMAD3



Citations in the biomedical literature:


Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion
FOXL2
Familial thoracic aortic aneurysm and aortic dissection
ACTA2 FBN1 MYH11 MYLK PRKG1 SMAD3
TGFB2 TGFBR1 TGFBR2



Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion
Familial thoracic aortic aneurysm and aortic dissection

Synonym(s):
- Blepharophimosis - epicanthus inversus - ptosis due to del(3)(q23)
- Blepharophimosis - epicanthus inversus - ptosis due to monosomy 3q23
- Blepharophimosis types 1 and 2 due to 3q23 microdeletion
- Blepharophimosis types 1 and 2 due to del(3)(q23)
- Blepharophimosis types 1 and 2 due to monosomy 3q23

Synonym(s):
- Familial TAAD

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare eye disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare infertility
Classification (Orphanet):
- Rare circulatory system disease
- Rare genetic disease
- Rare surgical thoracic disease
- Rare systemic or rheumatologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the circulatory system -

Epidemiological data:
(no data available)
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.