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
Disease Ontology
DOID:14323
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying entries 1 - 10 of 12 in total
Gene ID Gene Symbol Description Source
92 ACVR2A activin A receptor type 2A
93 ACVR2B activin A receptor type 2B
650 BMP2 bone morphogenetic protein 2
652 BMP4 bone morphogenetic protein 4
654 BMP6 bone morphogenetic protein 6
655 BMP7 bone morphogenetic protein 7
2200 FBN1 fibrillin 1
4148 MATN3 matrilin 3
4313 MMP2 matrix metallopeptidase 2
4321 MMP12 matrix metallopeptidase 12
Displaying entries 1 - 10 of 13 in total
Gene ID Gene Symbol Description Source
11480 Acvr2a activin receptor IIA
11481 Acvr2b activin receptor IIB
12156 Bmp2 bone morphogenetic protein 2
12159 Bmp4 bone morphogenetic protein 4
12160 Bmp5 bone morphogenetic protein 5
12161 Bmp6 bone morphogenetic protein 6
12162 Bmp7 bone morphogenetic protein 7
12164 Bmp8b bone morphogenetic protein 8b
14118 Fbn1 fibrillin 1
17183 Matn4 matrilin 4
Displaying all 7 entries
Gene ID Gene Symbol Description Source
25366 Acvr2b activin A receptor type 2B
25644 Bmp6 bone morphogenetic protein 6
29263 Acvr2a activin A receptor type 2A
29373 Bmp2 bone morphogenetic protein 2
81686 Mmp2 matrix metallopeptidase 2
81810 Tgfbr2 transforming growth factor, beta receptor 2
117033 Mmp12 matrix metallopeptidase 12
Displaying 1 entry
Gene ID Gene Symbol Description Source Organism
493288 gdf3 growth differentiation factor 3 Xenopus tropicalis (tropical clawed frog)
Displaying all 9 entries
Gene ID Gene Symbol Description Source
175781 daf-4 Cell surface receptor daf-4;Serine/threonine-protein kinase receptor;receptor protein serine/threonine kinase
176076 fbn-1 EGF-like domain-containing protein
176430 mua-3 Transmembrane cell adhesion receptor mua-3
178748 zmp-3 Matrix metalloproteinase-C
179068 dbl-1 Protein dbl-1
179197 cri-2 Putative metalloproteinase inhibitor tag-225
179199 timp-1 NTR domain-containing protein
179991 zmp-4 Hemopexin;Peptidase metallopeptidase domain-containing protein
180351 W01F3.2 Uncharacterized protein
Displaying 1 entry
Gene ID Gene Symbol Description Source
851994 MUS81 Mus81p

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Last updated: December 9, 2024