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 51 - 60 of 135 in total
Gene ID Gene Symbol Description Source
3988 LIPA lipase A, lysosomal acid type
4099 MAG myelin associated glycoprotein
4360 MRC1 mannose receptor C-type 1
4706 NDUFAB1 NADH:ubiquinone oxidoreductase subunit AB1
4758 NEU1 neuraminidase 1
4968 OGG1 8-oxoguanine DNA glycosylase
5048 PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1
5161 PDHA2 pyruvate dehydrogenase E1 subunit alpha 2
5226 PGD phosphogluconate dehydrogenase
5236 PGM1 phosphoglucomutase 1

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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