FMDMF
MCID: FBR100
MIFTS: 7

Fibromuscular Dysplasia, Multifocal (FMDMF)

Categories: Genetic diseases

Aliases & Classifications for Fibromuscular Dysplasia, Multifocal

MalaCards integrated aliases for Fibromuscular Dysplasia, Multifocal:

Name: Fibromuscular Dysplasia, Multifocal 57
Fmdmf 57

Classifications:



External Ids:

OMIM® 57 619329

Summaries for Fibromuscular Dysplasia, Multifocal

OMIM® : 57 Multifocal fibromuscular dysplasia (FMDMF) is characterized histologically by medial fibroplasia and angiographically by multiple arterial stenoses with intervening mural dilations. Arterial tortuosity, macroaneurysms, dissections, and rupture may occur (summary by Richer et al., 2020). (619329) (Updated 20-May-2021)

MalaCards based summary : Fibromuscular Dysplasia, Multifocal, is also known as fmdmf. An important gene associated with Fibromuscular Dysplasia, Multifocal is COL5A1 (Collagen Type V Alpha 1 Chain).

Related Diseases for Fibromuscular Dysplasia, Multifocal

Symptoms & Phenotypes for Fibromuscular Dysplasia, Multifocal

Clinical features from OMIM®:

619329 (Updated 20-May-2021)

Drugs & Therapeutics for Fibromuscular Dysplasia, Multifocal

Search Clinical Trials , NIH Clinical Center for Fibromuscular Dysplasia, Multifocal

Genetic Tests for Fibromuscular Dysplasia, Multifocal

Anatomical Context for Fibromuscular Dysplasia, Multifocal

Publications for Fibromuscular Dysplasia, Multifocal

Articles related to Fibromuscular Dysplasia, Multifocal:

# Title Authors PMID Year
1
A Novel Recurrent COL5A1 Genetic Variant Is Associated With a Dysplasia-Associated Arterial Disease Exhibiting Dissections and Fibromuscular Dysplasia. 57
32938213 2020
2
The 2017 international classification of the Ehlers-Danlos syndromes. 57
28306229 2017

Variations for Fibromuscular Dysplasia, Multifocal

Expression for Fibromuscular Dysplasia, Multifocal

Search GEO for disease gene expression data for Fibromuscular Dysplasia, Multifocal.

Pathways for Fibromuscular Dysplasia, Multifocal

GO Terms for Fibromuscular Dysplasia, Multifocal

Sources for Fibromuscular Dysplasia, Multifocal

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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