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 11 - 20 of 135 in total
Gene ID Gene Symbol Description Source
353 APRT adenine phosphoribosyltransferase
414 ARSD arylsulfatase D
821 CANX calnexin
847 CAT catalase
873 CBR1 carbonyl reductase 1
960 CD44 CD44 molecule (IN blood group)
1048 CEACAM5 CEA cell adhesion molecule 5
1087 CEACAM7 CEA cell adhesion molecule 7
1103 CHAT choline O-acetyltransferase
1109 AKR1C4 aldo-keto reductase family 1 member C4

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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