FMD
MCID: FBR032
MIFTS: 47

Fibromuscular Dysplasia (FMD) malady

Cardiovascular diseases, Nephrological diseases categories

Summaries for Fibromuscular Dysplasia

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42NIH Rare Diseases, 43NINDS, 63Wikipedia, 46OMIM, 32MalaCards
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NINDS:43 Fibromuscular dysplasia (FMD) is the abnormal development or growth of cells in the walls of arteries that can cause the vessels to narrow or bulge. The carotid arteries, which pass through the neck and supply blood to the brain, are commonly affected. Arteries within the brain and kidneys can also be affected. A characteristic ?string of beads? pattern caused by the alternating narrowing and enlarging of the artery can block or reduce blood flow to the brain, causing a stroke or mini-stroke. Some patients experience no symptoms of the disease while others may have high blood pressure, dizziness or vertigo, chronic headache, intracranial aneurysm, ringing in the ears, weakness or numbness in the face, neck pain, or changes in vision. FMD is most often seen in persons age 25 to 50 years and affects women more often than men. More than one family member may be affected by the disease. The cause of FMD is unknown. An angiogram can detect the degree of narrowing or obstruction of the artery and identify changes such as a tear (dissection) or weak area (aneurysm) in the vessel wall. FMD can also be diagnosed using computed tomography, magnetic resonance imaging, or ultrasound.

MalaCards: Fibromuscular Dysplasia, also known as fibromuscular dysplasia of arteries, is related to hypertension and renal hypertension. An important gene associated with Fibromuscular Dysplasia is REN (renin), and among its related pathways are Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics and Thromboxane signalling through TP receptor. The compounds captopril and norepinephrine have been mentioned in the context of this disorder. Affiliated tissues include brain and kidney, and related mouse phenotypes are muscle and renal/urinary system.

NIH Rare Diseases:42 Fibromuscular dysplasia (fmd) is the abnormal development or growth of cells in the walls of arteries that can cause the vessels to narrow or bulge. the carotid arteries, which pass through the neck and supply blood to the brain, are commonly affected. arteries within the brain and kidneys can also be affected. narrowing and enlarging of arteries can block or reduce blood flow to the brain, causing a stroke. some patients experience no symptoms of the disease while others may have high blood pressure, dizziness or vertigo, chronic headache, intracranial aneurysm, ringing in the ears, weakness or numbness in the face, neck pain, or changes in vision. fmd is most often seen in people age 25 to 50 years and affects women more often than men. more than one family member may be affected by the disease. the cause of fmd is unknown. treatment is based on the arteries affected and the progression and severity of the disease. last updated: 4/20/2009

Wikipedia:63 Fibromuscular dysplasia, often abbreviated as FMD, is a non-atherosclerotic, non-inflammatory vascular... more...

Description from OMIM:46 135580

Aliases & Classifications for Fibromuscular Dysplasia

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42NIH Rare Diseases, 43NINDS, 44Novoseek, 60UMLS, 48Orphanet, 46OMIM, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Cardiovascular diseases, Nephrological diseases


Characteristics (Orphanet epidemiological data):

48
fibromuscular dysplasia of arteries:
Age of onset: Adulthood


Aliases & Descriptions:

fibromuscular dysplasia 42 43 44 60
fibromuscular dysplasia of arteries 42 48 46
frontometaphyseal dysplasia 60
fmd 42


External Ids:

OMIM46 135580
MESH via Orphanet35 C537929, D005352
ICD10 via Orphanet26 I77.3
SNOMED-CT via Orphanet57 359553002
UMLS via Orphanet61 C0016052, C1851111

Related Diseases for Fibromuscular Dysplasia

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17GeneCards, 18GeneDecks
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Diseases related to Fibromuscular Dysplasia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 148)
idRelated DiseaseScoreTop Affiliating Genes
1hypertension31.1ACE, REN, AGT, AGTR1
2renal hypertension30.9REN, ACE
3intracranial aneurysm30.9SERPINA1
4renovascular hypertension30.8AGTR1, REN, ACE
5carotid artery dissection30.7IGLL5
6stroke, ischemic30.7APOH
7ischemia30.5AGT
8myocardial infarction30.5AGT, ACE, AGTR1, REN
9vasculitis30.4APOH, SERPINA1
10hepatitis30.2SERPINA1
11retinal artery occlusion30.2APOH
12vascular disease30.0APOH
13mitral valve prolapse30.0AGTR1
14connective tissue disease30.0TREX1, APOH
15adenoma30.0PITX1, REN
16cerebrovascular disease30.0ACE, AGTR1, APOH
17acute myocardial infarction30.0SERPINA1, ACE, AGTR1, AGT
18proteinuria30.0ACE, APOH, AGTR1, AGT, REN
19cerebritis10.6
20arteriovenous fistula10.4
21mouth disease10.3
22cervicitis10.3
23retinitis10.3
24carotid stenosis10.3
25aneurysm disease10.3
26cohen syndrome10.2
27central retinal artery occlusion10.2
28antiphospholipid syndrome10.2
29coronary aneurysm10.2
30intermittent claudication10.2
31hypertrophic cardiomyopathy10.2
32alpha 1-antitrypsin deficiency10.2
33aortic aneurysm10.2
34oto-palato-digital syndrome type 210.1
35melnick-needles syndrome10.1
36oto-palato-digital syndrome type 110.1
37tracheal stenosis10.1
38periventricular nodular heterotopia10.1
39craniometaphyseal dysplasia10.1
40metaphyseal dysplasia10.1
41ruptured aortic aneurysm10.1
42otopalatodigital spectrum disorders10.1
43critical limb ischemia10.0
44moyamoya disease10.0
45vacterl association10.0
46crohn's disease10.0
47neurofibromatosis10.0
48renal artery obstruction10.0
49subclavian artery aneurysm10.0
50supravalvular aortic stenosis10.0

Graphical network of the top 20 diseases related to Fibromuscular Dysplasia:



Diseases related to fibromuscular dysplasia

Clinical Features for Fibromuscular Dysplasia

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46OMIM
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Clinical features from OMIM:

135580

Clinical synopsis from OMIM:

135580

Drugs & Therapeutics for Fibromuscular Dysplasia

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Fibromuscular Dysplasia

Drug clinical trials:

Search ClinicalTrials for Fibromuscular Dysplasia

Search NIH Clinical Center for Fibromuscular Dysplasia

Search CenterWatch for Fibromuscular Dysplasia

Genetic Tests for Fibromuscular Dysplasia

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Anatomical Context for Fibromuscular Dysplasia

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32MalaCards
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MalaCards organs/tissues related to Fibromuscular Dysplasia:

32
Brain, Kidney

Animal Models for Fibromuscular Dysplasia or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Fibromuscular Dysplasia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.4PITX1, DES, AGT, NF1, TREX1, REN
2MP:00053678.2AGTR1, AGT, NF1, TREX1, REN, ACE
3MP:00053708.0AGT, NF1, IGJ, TREX1, ACE
4MP:00053857.7PITX1, DES, AGTR1, AGT, NF1, TREX1
5MP:00053877.7ACE, REN, TREX1, IGJ, NF1, AGT
6MP:00053767.4APOH, DES, AGTR1, AGT, NF1, TREX1
7MP:00107686.9ACE, APOH, PITX1, DES, AGTR1, AGT

Publications for Fibromuscular Dysplasia

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Genetic Variations for Fibromuscular Dysplasia

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Expression for genes affiliated with Fibromuscular Dysplasia

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Fibromuscular Dysplasia

Search GEO for disease gene expression data for Fibromuscular Dysplasia.

Pathways for genes affiliated with Fibromuscular Dysplasia

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Sources:
49PharmGKB, 37NCBI BioSystems Database, 53Reactome, 12EMD Millipore, 51QIAGEN
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Pathways related to Fibromuscular Dysplasia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.2REN
2
Hide members
9.7AGT, AGTR1
3
Hide members
9.4ACE, REN, AGT
4
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9.0AGTR1, AGT, REN, ACE

Compounds for genes affiliated with Fibromuscular Dysplasia

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Sources:
44Novoseek, 28IUPHAR, 49PharmGKB, 59Tocris Bioscience, 11DrugBank, 24HMDB
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Compounds related to Fibromuscular Dysplasia according to GeneCards/GeneDecks:

(show top 50)    (show all 100)
idCompoundScoreTop Affiliating Genes
1captopril44 28 49 59 1114.6REN
2norepinephrine44 11 2412.5DES
3temocaprilat449.8ACE, AGTR1
4lacidipine449.8AGTR1, REN, ACE
5remikiren44 1110.8AGT, REN, ACE
6cilazapril44 1110.8AGTR1, REN, ACE
7trandolapril44 1110.8AGTR1, REN, ACE
8fosinopril44 1110.7ACE, AGTR1, REN
9eplerenone44 59 28 1112.7ACE, REN, AGTR1
10quinapril44 1110.7REN, ACE, AGTR1
11ramipril44 1110.7AGTR1, ACE, REN
12enalaprilat449.7ACE, REN, AGT
13thiazide449.7REN, ACE, AGTR1
14sampatrilat449.7ACE, REN
15felodipine44 28 1111.6REN, AGTR1, ACE
16dihydropyridine449.6AGTR1, REN, ACE
17pd12331944 2810.6AGT, ACE, AGTR1
18spironolactone49 44 59 28 1113.5REN, ACE, AGTR1
19ibopamine449.5REN, ACE
20carvedilol44 49 28 1112.5AGTR1, ACE, REN
21aliskiren44 1110.4ACE, AGT, AGTR1, REN
22saralasin449.4AGT, REN, ACE, AGTR1
23eprosartan44 28 1111.4AGTR1, AGT, REN, ACE
24benazepril44 1110.4AGTR1, REN, ACE, AGT
25olmesartan44 28 1111.4REN, AGT, AGTR1, ACE
26lisinopril44 11 2411.4ACE, REN, AGT, AGTR1
27chymostatin449.4ACE, REN, AGTR1, AGT
28atenolol44 28 49 11 2413.4REN, AGTR1, AGT, ACE
29valsartan44 59 28 1112.4AGT, ACE, AGTR1, REN
30perindopril44 49 1111.4AGT, REN, ACE, AGTR1
31telmisartan44 28 1111.4REN, AGT, ACE, AGTR1
32irbesartan44 28 49 1112.4ACE, AGTR1, AGT, REN
33hydrochlorothiazide44 49 28 11 2413.4ACE, AGTR1, AGT, REN
34diltiazem44 28 1111.4AGTR1, REN, AGT, ACE
35nitroglycerin44 1110.4REN, AGTR1, ACE
36candesartan44 28 1111.4AGTR1, ACE, REN, AGT
37enalapril44 49 1111.4AGT, ACE, REN, AGTR1
38amlodipine44 49 11 2412.4AGTR1, AGT, ACE, REN
39ang ii449.4AGTR1, ACE, REN, AGT
40losartan44 49 28 1112.3ACE, REN, AGTR1, AGT
41nifedipine44 49 28 1112.2REN, ACE, AGT, AGTR1
42fibrinogen449.0AGTR1, APOH, AGT, DES, SERPINA1
43prostacyclin449.0APOH, AGTR1, REN, ACE, AGT
44lysine448.6AGTR1, NF1, DES, APOH, SERPINA1
45cholesterol44 28 11 2411.6AGT, AGTR1, REN, ACE, SERPINA1, APOH
46creatinine448.4REN, SERPINA1, APOH, ACE, DES, AGTR1
47arginine448.4APOH, AGT, NF1, DES, REN, AGTR1
48nitric oxide44 11 2410.4AGT, APOH, SERPINA1, ACE, AGTR1, DES
49glucose447.8APOH, AGTR1, AGT, DES, ACE, CDIPT
50lipid447.6SERPINA1, NF1, CDIPT, AGTR1, APOH, AGT

GO Terms for genes affiliated with Fibromuscular Dysplasia

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16Gene Ontology
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Cellular components related to Fibromuscular Dysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:0056158.4SERPINA1, ACE, REN, AGT, APOH
2extracellular regionGO:0055767.7IGJ, IGLL5, REN, ACE, SERPINA1, AGT

Biological processes related to Fibromuscular Dysplasia according to GeneCards/GeneDecks:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of NAD(P)H oxidase activityGO:0338649.9AGT, AGTR1
2regulation of blood vessel size by renin-angiotensinGO:0020349.9AGT, AGTR1
3regulation of renal sodium excretionGO:0358139.9AGTR1, AGT
4regulation of renal output by angiotensinGO:0020199.9ACE, AGT
5positive regulation of cholesterol esterificationGO:0108739.9AGT, AGTR1
6regulation of systemic arterial blood pressure by renin-angiotensinGO:0030819.8ACE, AGTR1
7low-density lipoprotein particle remodelingGO:0343749.8AGTR1, AGT
8regulation of vasodilationGO:0423129.8AGTR1, ACE
9positive regulation of cellular protein metabolic processGO:0322709.8AGTR1, AGT
10renin-angiotensin regulation of aldosterone productionGO:0020189.8REN, AGT, AGTR1
11positive regulation of macrophage derived foam cell differentiationGO:0107449.7AGT, AGTR1
12positive regulation of reactive oxygen species metabolic processGO:20003799.7AGT, AGTR1
13angiotensin maturationGO:0020039.7AGT, REN, ACE
14regulation of vasoconstrictionGO:0192299.5AGTR1, AGT, ACE
15regulation of long-term neuronal synaptic plasticityGO:0481699.4NF1, AGT
16negative regulation of endothelial cell proliferationGO:0019379.3NF1, APOH
17kidney developmentGO:0018229.3ACE, REN, AGT, AGTR1

Molecular functions related to Fibromuscular Dysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1bradykinin receptor bindingGO:0317119.6ACE, AGTR1
2acetyltransferase activator activityGO:0106989.4AGT, AGTR1

Products for genes affiliated with Fibromuscular Dysplasia

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  • Antibodies
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Sources for Fibromuscular Dysplasia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet