Marfan syndrome
A disorder of the connective tissue. Connective tissue provides strength and flexibility to structures throughout the body such as bones, ligaments, muscles, walls of blood vessels, and heart valves. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). It is caused by mutations in the FBN1 gene, which provides instructions for making a protein called fibrillin-1. Marfan syndrome is inherited in an autosomal dominant pattern. At least 25% of cases are due to a new (de novo) mutation. Treatment is based on the signs and symptoms in each person.
MONDO:0017311
obsolete rare disease with thoracic aortic aneurysm and aortic dissection (obsolete MONDO:0017311)
excluded_subClassOf
MONDO:0019755
developmental defect during embryogenesis
excluded_subClassOf
MONDO:0020208
obsolete syndromic myopia (obsolete MONDO:0020208)
excluded_subClassOf
MONDO:0020211
obsolete syndromic keratoconus (obsolete MONDO:0020211)
excluded_subClassOf
MONDO:0020236
obsolete lens position anomaly (obsolete MONDO:0020236)
excluded_subClassOf
MONDO:0000426
autosomal dominant disease
is_a
MONDO:0002254
syndromic disease
is_a
MONDO:0005172
skeletal system disorder
is_a
MONDO:0017310
Marfan and Marfan-related disorder
is_a
MFS
exact
MFS1
exact
Marfan syndrome
exact
Marfan syndrome type 1
exact
Marfan syndrome, type 1
exact
Marfan's syndrome
exact