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 71 - 80 of 135 in total
Gene ID Gene Symbol Description Source
5563 PRKAA2 protein kinase AMP-activated catalytic subunit alpha 2
5589 PRKCSH PRKCSH beta subunit of glucosidase II
5621 PRNP prion protein (Kanno blood group)
5648 MASP1 MBL associated serine protease 1
5660 PSAP prosaposin
5728 PTEN phosphatase and tensin homolog
5730 PTGDS prostaglandin D2 synthase
5742 PTGS1 prostaglandin-endoperoxide synthase 1
5743 PTGS2 prostaglandin-endoperoxide synthase 2
6296 ACSM3 acyl-CoA synthetase medium chain family member 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