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 41 - 50 of 135 in total
Gene ID Gene Symbol Description Source
2731 GLDC glycine decarboxylase
2752 GLUL glutamate-ammonia ligase
3251 HPRT1 hypoxanthine phosphoribosyltransferase 1
3383 ICAM1 intercellular adhesion molecule 1
3417 IDH1 isocitrate dehydrogenase (NADP(+)) 1
3423 IDS iduronate 2-sulfatase
3631 INPP4A inositol polyphosphate-4-phosphatase type I A
3635 INPP5D inositol polyphosphate-5-phosphatase D
3821 KLRC1 killer cell lectin like receptor C1
3955 LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase

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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