FMD
MCID: FBR032
MIFTS: 59

Fibromuscular Dysplasia (FMD) malady

Rare diseases, Cardiovascular diseases, Nephrological diseases categories
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Summaries for Fibromuscular Dysplasia

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43NIH Rare Diseases, 44NINDS, 65Wikipedia, 47OMIM, 33MalaCards
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NINDS: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. 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: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. 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:65 Fibromuscular dysplasia, often abbreviated as FMD, is a non-atherosclerotic, non-inflammatory vascular... more...

Description from OMIM:47 135580

Aliases & Classifications for Fibromuscular Dysplasia

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43NIH Rare Diseases, 44NINDS, 45Novoseek, 49Orphanet, 47OMIM, 62UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS 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):

49
fibromuscular dysplasia of arteries:
Age of onset: Adulthood


Aliases & Descriptions:

fibromuscular dysplasia 43 44 45 62
fibromuscular dysplasia of arteries 43 49 47
frontometaphyseal dysplasia 62
fmd 43


External Ids:

OMIM47 135580
MESH via Orphanet36 C537929, D005352
ICD10 via Orphanet26 I77.3
SNOMED-CT via Orphanet59 359553002
UMLS via Orphanet63 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 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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47OMIM
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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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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Fibromuscular Dysplasia

Search NIH Clinical Center for Fibromuscular Dysplasia

Genetic Tests for Fibromuscular Dysplasia

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Anatomical Context for Fibromuscular Dysplasia

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33MalaCards
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MalaCards organs/tissues related to Fibromuscular Dysplasia:

33
Brain, Kidney, Bone, Lung, Skin, Testes

Animal Models for Fibromuscular Dysplasia or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Fibromuscular Dysplasia:

37
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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52PubMed
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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, 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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50PathCards, 12EMD Millipore, 55Reactome, 38NCBI BioSystems Database, 53QIAGEN, 51PharmGKB, 30KEGG
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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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45Novoseek, 11DrugBank, 61Tocris Bioscience, 29IUPHAR, 51PharmGKB, 24HMDB
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Compounds related to Fibromuscular Dysplasia according to GeneCards/GeneDecks:

(show top 50)    (show all 120)
idCompoundScoreTop Affiliating Genes
1remikiren45 1110.2AGT, ACE, REN
2enalaprilat459.1ACE, REN, AGT
3lacidipine459.1ACE, AGTR1, REN
4cilazapril45 1110.0AGTR1, ACE, REN
5trandolapril45 1110.0REN, ACE, AGTR1
6temocaprilat459.0ACE, AGTR1
7fosinopril45 1110.0AGTR1, REN, ACE
8eplerenone45 61 29 1112.0AGTR1, REN, ACE
9quinapril45 51 1111.0AGTR1, REN, ACE
10ramipril45 1110.0AGTR1, ACE, REN
11hydralazine45 51 1110.9REN, ACE, AGTR1
12thiazide458.9REN, ACE, AGTR1
13felodipine45 29 1110.9AGTR1, REN, ACE
14pd12331945 299.9ACE, AGT, AGTR1
15dihydropyridine458.8REN, AGTR1, ACE
16spironolactone45 61 29 51 1112.8AGTR1, ACE, REN
17aliskiren45 119.6AGT, ACE, AGTR1, REN
18saralasin458.6REN, ACE, AGTR1, AGT
19eprosartan45 29 1110.6AGTR1, ACE, REN, AGT
20olmesartan45 29 1110.6AGTR1, AGT, ACE, REN
21benazepril45 51 1110.6REN, ACE, AGTR1, AGT
22lisinopril45 51 24 1111.6REN, ACE, AGTR1, AGT
23chymostatin458.6ACE, AGT, AGTR1, REN
24valsartan45 61 29 1111.6ACE, AGT, AGTR1, REN
25telmisartan45 29 1110.6AGT, ACE, REN, AGTR1
26carvedilol45 51 29 1111.6AGTR1, ACE, REN
27perindopril45 51 1110.6REN, ACE, AGT, AGTR1
28atenolol45 51 29 24 1112.6AGTR1, REN, ACE, AGT
29irbesartan45 29 51 1111.6REN, AGT, AGTR1, ACE
30diltiazem45 29 51 1111.6AGTR1, REN, ACE, AGT
31candesartan45 51 29 1111.6AGTR1, AGT, ACE, REN
32hydrochlorothiazide45 29 51 24 1112.6AGTR1, AGT, REN, ACE
33amlodipine45 51 24 1111.6ACE, AGTR1, REN, AGT
34enalapril45 51 1110.6ACE, REN, AGT, AGTR1
35ang ii458.5ACE, REN, AGT, AGTR1
36captopril45 61 51 29 1112.5AGTR1, AGT, ACE, REN
37acth458.5AGT, REN, SERPINA1, AGTR1
38losartan45 51 29 1111.5AGT, ACE, REN, AGTR1
39fibrinogen458.4DES, AGTR1, AGT, SERPINA1, APOH
40nifedipine45 29 51 1111.4REN, ACE, AGTR1, AGT
41nitroglycerin45 119.4ACE, AGTR1, REN
42heparin45 29 24 1111.3APOH, AGT, SERPINA1, AGTR1, DES
43prostacyclin458.1AGTR1, AGT, ACE, REN, APOH
44norepinephrine45 24 1110.1AGTR1, AGT, ACE, DES, REN
45cholesterol45 29 24 1110.7REN, ACE, AGT, AGTR1, APOH, SERPINA1
46creatinine457.4APOH, ACE, AGTR1, SERPINA1, DES, REN
47nitric oxide45 24 119.4AGT, ACE, REN, SERPINA1, APOH, DES
48lipid457.2AGT, SERPINA1, AGTR1, APOH, CDIPT, ACE
49calcium45 51 24 1110.1DES, AGT, REN, CDIPT, APOH, AGTR1
50glucose456.8SERPINA1, REN, CDIPT, AGTR1, AGT, APOH

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 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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Sources for Fibromuscular Dysplasia

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet