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 21 - 30 of 135 in total
Gene ID Gene Symbol Description Source
1462 VCAN versican
1544 CYP1A2 cytochrome P450 family 1 subfamily A member 2
1545 CYP1B1 cytochrome P450 family 1 subfamily B member 1
1555 CYP2B6 cytochrome P450 family 2 subfamily B member 6
1586 CYP17A1 cytochrome P450 family 17 subfamily A member 1
1605 DAG1 dystroglycan 1
1634 DCN decorin
1636 ACE angiotensin I converting enzyme
1645 AKR1C1 aldo-keto reductase family 1 member C1
1717 DHCR7 7-dehydrocholesterol reductase

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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