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
External Links
Disease Ontology
DOID:14323
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying entries 31 - 40 of 135 in total
Gene ID Gene Symbol Description Source
1718 DHCR24 24-dehydrocholesterol reductase
2132 EXT2 exostosin glycosyltransferase 2
2203 FBP1 fructose-bisphosphatase 1
2215 FCGR3B Fc gamma receptor IIIb
2220 FCN2 ficolin 2
2262 GPC5 glypican 5
2524 FUT2 fucosyltransferase 2 (H blood group)
2619 GAS1 growth arrest specific 1
2645 GCK glucokinase
2719 GPC3 glypican 3

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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 19, 2024