KEGG   DISEASE: Multifocal fibromuscular dysplasia
Entry
H02719                      Disease                                
Name
Multifocal fibromuscular dysplasia
Description
Multifocal fibromuscular dysplasia (FMDMF) is one form of dysplasia-associated arterial disease characterized histologically by medial fibroplasia, and angiographically by multiple arterial stenoses with intervening mural dilations. A mutation in the COL5A1 gene, encoding collagen type V alpha 1 chain, has been reported in patients with FMDMF.
Category
Cardiovascular disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 11 Diseases of the circulatory system
  Diseases of arteries or arterioles
   Chronic arterial occlusive disease
    BD41  Non-atherosclerotic chronic arterial occlusive disease
     H02719  Multifocal fibromuscular dysplasia
Pathway-based classification of diseases [BR:br08402]
 Cellular process
  nt06539  Cytoskeleton in muscle cells
   H02719  Multifocal fibromuscular dysplasia
Pathway
hsa04820  Cytoskeleton in muscle cells
Network
nt06539 Cytoskeleton in muscle cells
Gene
COL5A1 [HSA:1289] [KO:K19721]
Other DBs
ICD-11: BD41.Y
ICD-10: I77.3
OMIM: 619329
Reference
PMID:32938213
  Authors
Richer J, Hill HL, Wang Y, Yang ML, Hunker KL, Lane J, Blackburn S, Coleman DM, Eliason J, Sillon G, D'Agostino MD, Jetty P, Mongeon FP, Laberge AM, Ryan SE, Fendrikova-Mahlay N, Coutinho T, Mathis MR, Zawistowski M, Hazen SL, Katz AE, Gornik HL, Brummett CM, Abecasis G, Bergin IL, Stanley JC, Li JZ, Ganesh SK
  Title
A Novel Recurrent COL5A1 Genetic Variant Is Associated With a Dysplasia-Associated Arterial Disease Exhibiting Dissections and Fibromuscular  Dysplasia.
  Journal
Arterioscler Thromb Vasc Biol 40:2686-2699 (2020)
DOI:10.1161/ATVBAHA.119.313885
LinkDB

» Japanese version

DBGET integrated database retrieval system