Marfan syndrome

Summary
Synonym
  • Marfan's syndrome
Definition
A connective tissue disease that is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens.
Super Class
aortic disease connective tissue disease eye disease
Disease Ontology
DOID:14323
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
2200 FBN1 fibrillin 1
7048 TGFBR2 transforming growth factor beta receptor 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
14118 Fbn1 fibrillin 1
Displaying all 3 entries
Gene ID Gene Symbol Description Source
175781 daf-4 Cell surface receptor daf-4;Serine/threonine-protein kinase receptor;receptor protein serine/threonine kinase
176430 mua-3 Transmembrane cell adhesion receptor mua-3
179068 dbl-1 Protein dbl-1
Related Glycoprotein

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 4, 2025