FMD
MCID: FBR032
MIFTS: 59

Fibromuscular Dysplasia (FMD) malady

Rare diseases, Cardiovascular diseases, Nephrological diseases categories

Summaries for Fibromuscular Dysplasia

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44NIH Rare Diseases, 45NINDS, 66Wikipedia, 48OMIM, 34MalaCards
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NINDS:45 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 renovascular hypertension. An important gene associated with Fibromuscular Dysplasia is REN (renin), and among its related pathways are Selected targets of HNF1 and Peptide hormone metabolism. The compounds remikiren and enalaprilat have been mentioned in the context of this disorder. Affiliated tissues include brain, kidney and bone, and related mouse phenotypes are renal/urinary system and cardiovascular system.

NIH Rare Diseases:44 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:66 Fibromuscular dysplasia, often abbreviated as FMD, is a non-atherosclerotic, non-inflammatory vascular... more...

Description from OMIM:48 135580

Aliases & Classifications for Fibromuscular Dysplasia

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44NIH Rare Diseases, 45NINDS, 46Novoseek, 50Orphanet, 48OMIM, 63UMLS, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
fibromuscular dysplasia of arteries:
Age of onset: Adulthood


Aliases & Descriptions:

fibromuscular dysplasia 44 45 46 63
fibromuscular dysplasia of arteries 44 50 48
frontometaphyseal dysplasia 63
fmd 44


External Ids:

OMIM48 135580
MESH via Orphanet37 C537929, D005352
ICD10 via Orphanet27 I77.3
SNOMED-CT via Orphanet60 359553002
UMLS via Orphanet64 C0016052, C1851111

Related Diseases for Fibromuscular Dysplasia

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18GeneCards, 19GeneDecks
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Diseases related to Fibromuscular Dysplasia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 125)
idRelated DiseaseScoreTop Affiliating Genes
1hypertension31.1AGT, ACE, AGTR1, REN
2renovascular hypertension30.9ACE, REN, AGTR1
3myocardial infarction30.5AGT, ACE, REN, AGTR1
4vasculitis30.5SERPINA1, APOH
5retinal artery occlusion30.5APOH
6mitral valve prolapse30.2AGTR1
7hypokalemia30.2REN, ACE
8adrenal adenoma30.1AGTR1, REN
9acute myocardial infarction30.0SERPINA1, AGT, ACE, AGTR1
10proteinuria29.9REN, APOH, ACE, AGTR1, AGT
11aneurysm11.0
12cerebritis10.6
13arteriovenous fistula10.4
14intracranial aneurysm10.4
15ischemia10.4
16mouth disease10.4
17carotid artery dissection10.4
18cervicitis10.4
19retinitis10.4
20spontaneous coronary artery dissection10.3
21cerebral aneurysms10.3
22antiphospholipid syndrome10.2
23hypertrophic cardiomyopathy10.2
24intermittent claudication10.2
25alpha 1-antitrypsin deficiency10.2
26central retinal artery occlusion10.2
27aortic aneurysm10.2
28hepatitis10.2
29aortic coarctation10.2
30macrophagic myofasciitis10.2
31melnick-needles syndrome10.2
32oto-palato-digital syndrome type 110.2
33oto-palato-digital syndrome type 210.2
34hypoaldosteronism10.1REN
35portal hypertension10.1REN
36hepatorenal syndrome10.1REN
37granular cell tumor10.1DES
38congestive heart failure10.1REN
39oligohydramnios10.1ACE
40systemic scleroderma10.1ACE
41crohn's disease10.1
42neurofibromatosis10.1
43supravalvular aortic stenosis10.1
44renal artery obstruction10.1
45limb ischemia10.1
46takayasu's arteritis10.1
47homocystinuria10.1
48polyarteritis nodosa10.1
49celiac disease10.1
50abdominal aortic aneurysm10.1

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



Diseases related to fibromuscular dysplasia

Symptoms for Fibromuscular Dysplasia

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48OMIM
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Symptoms by clinical synopsis from OMIM:

135580

Clinical features from OMIM:

135580

Drugs & Therapeutics for Fibromuscular Dysplasia

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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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34MalaCards
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MalaCards organs/tissues related to Fibromuscular Dysplasia:

34
Brain, Kidney, Bone, Lung, Skin, Testes

Animal Models for Fibromuscular Dysplasia or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Fibromuscular Dysplasia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.2AGTR1, AGT, ACE, REN
2MP:00053857.7DES, REN, ACE, AGT, AGTR1
3MP:00053767.4AGTR1, AGT, ACE, REN, APOH, DES
4MP:00107687.1DES, APOH, REN, ACE, AGT, AGTR1

Publications for Fibromuscular Dysplasia

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53PubMed
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Articles related to Fibromuscular Dysplasia:

(show top 50)    (show all 493)
idTitleAuthorsYear
1
Renal artery stent fracture in patients with fibromuscular dysplasia: a cautionary tale. (23780296)
2013
2
Coronary vasospasm attributable to fibromuscular dysplasia: the long bridge to transplant. (23694776)
2013
3
Renal artery fibromuscular dysplasia in 2,640 renal donor subjects: a CT angiography analysis. (23911200)
2013
4
Acute aortic dissection and stroke in multivessel fibromuscular dysplasia. (23467036)
2013
5
Renal angioplasty for treatment of hypertensive patients with fibromuscular dysplasia. No country for old men. (23636016)
2013
6
Fibromuscular dysplasia-related aneurysms: one-year follow-up after treatment with a flow-diverting stent. (23707102)
2013
7
Diagnosis and management of fibromuscular dysplasia: an expert consensus. (21854373)
2012
8
Fibromuscular dysplasia. (22566353)
2012
9
Images in vascular medicine. A ruptured intracranial aneurysm with underlying cervicocranial fibromuscular dysplasia. (22006367)
2012
10
Low yield of genetic testing for known vascular connective tissue disorders in patients with fibromuscular dysplasia. (23064905)
2012
11
Fibromuscular dysplasia: a differential diagnosis of vasculitis. (22286647)
2012
12
Standing arterial waves is NOT fibromuscular dysplasia. (22338008)
2012
13
Macroaneurysm in a renal fibromuscular dysplasia. (21343596)
2011
14
Carotid and vertebral arterial fibromuscular dysplasia masquerading as severe preeclampsia: a case report. (21902099)
2011
15
Diagnosing and treating atypical arterial pathologies of aortic arch vessels: dissection and fibromuscular dysplasia. (21718931)
2011
16
Ischemic stroke because of intracranial fibromuscular dysplasia. (21310338)
2011
17
Renal transplantation for fibromuscular dysplasia. (21446982)
2011
18
Case report and review: epicardial coronary artery fibromuscular dysplasia. (18242135)
2009
19
The long-term outcomes of percutaneous therapy for renal artery fibromuscular dysplasia. (18692345)
2008
20
An uncommon variant of fibromuscular dysplasia. (18190503)
2008
21
Fibromuscular dysplasia: noninvasive evaluation of unusual case of renal and mesenteric involvement. (18313108)
2008
22
Fibromuscular dysplasia of renal arteries. (18070585)
2007
23
Symptoms of a stroke in a 41-year-old woman. Fibromuscular dysplasia (FMD). (17601222)
2007
24
Fibromuscular dysplasia recurrence after kidney transplantation: case report. (16878439)
2006
25
Renal fibromuscular dysplasia in elderly persons. (15806462)
2005
26
Fatal mesenteric fibromuscular dysplasia: a case report and review of the literature. (15159274)
2004
27
Surgery too drastic to treat fibromuscular dysplasia in an elderly patient. (12912758)
2003
28
Incidence of donor renal fibromuscular dysplasia: does it justify routine angiography? (11965042)
2002
29
Even severe renal artery fibromuscular dysplasia is no contraindication for living donor renal transplantation: report of two successful cases with venous grafting of the donor renal artery. (12493391)
2002
30
Treatment of renal artery fibromuscular dysplasia with balloon angioplasty: a prospective follow-up study. (11863332)
2002
31
Coexistence of hypertrophic cardiomyopathy and fibromuscular dysplasia of the superior mesenteric artery. (11336027)
2001
32
Stroke in a young man with fibromuscular dysplasia of the cranial vessels with anticardiolipin antibodies: a case report. (11487190)
2001
33
Childhood subarachnoid hemorrhage associated with fibromuscular dysplasia. (11465797)
2001
34
An unusual type of combined aortic coarctation due to fibromuscular dysplasia. (10386705)
1999
35
A case of sudden death caused by fibromuscular dysplasia. (10605412)
1999
36
Prevalence of cerebral aneurysms in patients with fibromuscular dysplasia: a reassessment. (9488296)
1998
37
Fibromuscular Dysplasia of the Aorta Presenting as Multiple Recurrent Thoracic Aneurysms (9585453)
1998
38
Posttraumatic bilateral carotid artery and right vertebral artery dissections in a patient with fibromuscular dysplasia: case report and review of the literature. (9498524)
1998
39
Fibromuscular dysplasia of the brachial artery: an endovascular approach. (7856978)
1995
40
Successful renal autotransplantation for renal failure with prolonged oliguria in a Jehovah's Witness with fibromuscular dysplasia of the renal arteries. (7830849)
1994
41
Fibromuscular dysplasia of the renal arteries associated with antiphospholipid autoantibodies: two case reports. (1442763)
1992
42
Gastrointestinal arterial fibromuscular dysplasia of childhood. (2910233)
1989
43
Recurrent aneurysms of the upper arteries of the lower limb: an atypical manifestation of fibromuscular dysplasia--a case report. (3592298)
1987
44
Fibromuscular dysplasia of the internal carotid artery: an unusual cause of reversible ischemic neurologic disease. (3766038)
1986
45
Gruntzig balloon dilation for fibromuscular dysplasia of the internal carotid arteries. (3157891)
1985
46
Fibromuscular dysplasia in the extremities. (4030883)
1985
47
Fibromuscular dysplasia of the internal carotid artery treated by operative transluminal balloon angioplasty. (3159038)
1985
48
Ischaemic proctitis and adventitial fibromuscular dysplasia of the superior rectal artery. (6689966)
1984
49
Fibromuscular dysplasia, a pitfall in intravenous digital subtraction angiography. (6373260)
1984
50
Fibromuscular dysplasia of the carotid artery. (6582839)
1983

Variations for Fibromuscular Dysplasia

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Fibromuscular Dysplasia:

1
id Gene Name Type Significance SNP ID Assembly Location
1FLNANM_001110556.1(FLNA): c.3476A> C (p.Asp1159Ala)single nucleotide variantPathogenicrs28935471GRCh37Chr X, 153588687: 153588687
2FLNANM_001110556.1(FLNA): c.3557C> T (p.Ser1186Leu)single nucleotide variantPathogenicrs137853312GRCh37Chr X, 153588606: 153588606

Expression for genes affiliated with Fibromuscular Dysplasia

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2BioGPS, 16Gene 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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51PathCards, 13EMD Millipore, 56Reactome, 39NCBI BioSystems Database, 54QIAGEN, 52PharmGKB, 31KEGG
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Pathways related to Fibromuscular Dysplasia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6SERPINA1, APOH
2
Show member pathways
8.8AGT, ACE, REN
3
Show member pathways
8.2REN, ACE, AGT, AGTR1
4
Show member pathways
8.2AGTR1, AGT, ACE, REN

Compounds for genes affiliated with Fibromuscular Dysplasia

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46Novoseek, 12DrugBank, 62Tocris Bioscience, 30IUPHAR, 52PharmGKB, 25HMDB
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Compounds related to Fibromuscular Dysplasia according to GeneCards/GeneDecks:

(show top 50)    (show all 120)
idCompoundScoreTop Affiliating Genes
1remikiren46 1210.2AGT, ACE, REN
2enalaprilat469.1ACE, REN, AGT
3lacidipine469.1ACE, AGTR1, REN
4cilazapril46 1210.0AGTR1, ACE, REN
5trandolapril46 1210.0REN, ACE, AGTR1
6temocaprilat469.0ACE, AGTR1
7fosinopril46 1210.0AGTR1, REN, ACE
8eplerenone46 62 30 1212.0AGTR1, REN, ACE
9quinapril46 52 1211.0AGTR1, REN, ACE
10ramipril46 1210.0AGTR1, ACE, REN
11hydralazine46 52 1210.9REN, ACE, AGTR1
12thiazide468.9REN, ACE, AGTR1
13felodipine46 30 1210.9AGTR1, REN, ACE
14pd12331946 309.9ACE, AGT, AGTR1
15dihydropyridine468.8REN, AGTR1, ACE
16spironolactone46 62 30 52 1212.8AGTR1, ACE, REN
17aliskiren46 129.6AGT, ACE, AGTR1, REN
18saralasin468.6REN, ACE, AGTR1, AGT
19eprosartan46 30 1210.6AGTR1, ACE, REN, AGT
20olmesartan46 30 1210.6AGTR1, AGT, ACE, REN
21benazepril46 52 1210.6REN, ACE, AGTR1, AGT
22lisinopril46 52 25 1211.6REN, ACE, AGTR1, AGT
23chymostatin468.6ACE, AGT, AGTR1, REN
24valsartan46 62 30 1211.6ACE, AGT, AGTR1, REN
25telmisartan46 30 1210.6AGT, ACE, REN, AGTR1
26carvedilol46 52 30 1211.6AGTR1, ACE, REN
27perindopril46 52 1210.6REN, ACE, AGT, AGTR1
28atenolol46 52 30 25 1212.6AGTR1, REN, ACE, AGT
29irbesartan46 30 52 1211.6REN, AGT, AGTR1, ACE
30diltiazem46 30 52 1211.6AGTR1, REN, ACE, AGT
31candesartan46 52 30 1211.6AGTR1, AGT, ACE, REN
32hydrochlorothiazide46 30 52 25 1212.6AGTR1, AGT, REN, ACE
33amlodipine46 52 25 1211.6ACE, AGTR1, REN, AGT
34enalapril46 52 1210.6ACE, REN, AGT, AGTR1
35ang ii468.5ACE, REN, AGT, AGTR1
36captopril46 62 52 30 1212.5AGTR1, AGT, ACE, REN
37acth468.5AGT, REN, SERPINA1, AGTR1
38losartan46 52 30 1211.5AGT, ACE, REN, AGTR1
39fibrinogen468.4DES, AGTR1, AGT, SERPINA1, APOH
40nifedipine46 30 52 1211.4REN, ACE, AGTR1, AGT
41nitroglycerin46 129.4ACE, AGTR1, REN
42heparin46 30 25 1211.3APOH, AGT, SERPINA1, AGTR1, DES
43prostacyclin468.1AGTR1, AGT, ACE, REN, APOH
44norepinephrine46 25 1210.1AGTR1, AGT, ACE, DES, REN
45cholesterol46 30 25 1210.7REN, ACE, AGT, AGTR1, APOH, SERPINA1
46creatinine467.4APOH, ACE, AGTR1, SERPINA1, DES, REN
47nitric oxide46 25 129.4AGT, ACE, REN, SERPINA1, APOH, DES
48lipid467.2AGT, SERPINA1, AGTR1, APOH, CDIPT, ACE
49calcium46 52 25 1210.1DES, AGT, REN, CDIPT, APOH, AGTR1
50glucose466.8SERPINA1, REN, CDIPT, AGTR1, AGT, APOH

GO Terms for genes affiliated with Fibromuscular Dysplasia

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17Gene Ontology
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Cellular components related to Fibromuscular Dysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:0055768.3AGT, ACE, REN, SERPINA1
2extracellular spaceGO:0056157.6AGT, ACE, REN, SERPINA1, APOH

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

(show all 23)
idNameGO IDScoreTop Affiliating Genes
1regulation of blood vessel size by renin-angiotensinGO:0020349.7AGTR1, AGT
2regulation of proteolysisGO:0301629.6SERPINA1, AGT
3positive regulation of NAD(P)H oxidase activityGO:0338649.6AGTR1, AGT
4regulation of renal sodium excretionGO:0358139.6AGT, AGTR1
5positive regulation of cholesterol esterificationGO:0108739.6AGTR1, AGT
6low-density lipoprotein particle remodelingGO:0343749.6AGTR1, AGT
7positive regulation of cellular protein metabolic processGO:0322709.6AGTR1, AGT
8positive regulation of macrophage derived foam cell differentiationGO:0107449.6AGT, AGTR1
9negative regulation of angiogenesisGO:0165259.5AGT, APOH
10positive regulation of reactive oxygen species metabolic processGO:20003799.5AGTR1, AGT
11regulation of renal output by angiotensinGO:0020199.5ACE, AGT
12phospholipase C-activating G-protein coupled receptor signaling pathwayGO:0072009.4AGT, AGTR1
13positive regulation of inflammatory responseGO:0507299.4AGTR1, AGT
14renin-angiotensin regulation of aldosterone productionGO:0020189.3AGTR1, AGT, REN
15regulation of systemic arterial blood pressure by renin-angiotensinGO:0030819.3AGTR1, ACE
16blood vessel remodelingGO:0019749.3AGT, ACE
17regulation of vasodilationGO:0423129.3ACE, AGTR1
18regulation of blood pressureGO:0082179.2REN, ACE
19angiotensin maturationGO:0020039.1REN, ACE, AGT
20regulation of cell growthGO:0015589.0AGTR1, AGT
21regulation of vasoconstrictionGO:0192298.8AGTR1, AGT, ACE
22cellular protein metabolic processGO:0442678.8AGT, ACE, REN
23kidney developmentGO:0018228.5AGTR1, AGT, ACE, REN

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

idNameGO IDScoreTop Affiliating Genes
1identical protein bindingGO:0428029.2SERPINA1, APOH, DES
2bradykinin receptor bindingGO:0317118.7AGTR1, ACE

Products for genes affiliated with Fibromuscular Dysplasia

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  • Antibodies
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Sources for Fibromuscular Dysplasia

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet