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 81 - 90 of 135 in total
Gene ID Gene Symbol Description Source
6309 SC5D sterol-C5-desaturase
6319 SCD stearoyl-CoA desaturase
6383 SDC2 syndecan 2
6390 SDHB succinate dehydrogenase complex iron sulfur subunit B
6470 SHMT1 serine hydroxymethyltransferase 1
6519 SLC3A1 solute carrier family 3 member 1
6614 SIGLEC1 sialic acid binding Ig like lectin 1
6718 AKR1D1 aldo-keto reductase family 1 member D1
6783 SULT1E1 sulfotransferase family 1E member 1
8879 SGPL1 sphingosine-1-phosphate lyase 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