MCID: FBR032
MIFTS: 60

Fibromuscular Dysplasia malady

Rare diseases, Cardiovascular diseases, Nephrological diseases categories

Summaries for Fibromuscular Dysplasia

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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 based summary: Fibromuscular Dysplasia, also known as fibromuscular dysplasia of arteries, is related to renovascular hypertension and vasculitis, and has symptoms including autosomal dominant inheritance, stroke and myocardial infarction. An important gene associated with Fibromuscular Dysplasia is FLNA (filamin A, alpha), 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 behavior/neurological and renal/urinary 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 disease of... more...

Aliases & Classifications for Fibromuscular Dysplasia

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Sources:
43NIH Rare Diseases, 44NINDS, 45Novoseek, 49Orphanet, 62UMLS, 36MESH via Orphanet, 28ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Fibromuscular Dysplasia, Aliases & Descriptions:

Name: Fibromuscular Dysplasia 43 44 45 62
Fibromuscular Dysplasia of Arteries 43 49 62
 
Frontometaphyseal Dysplasia 62
Fmd 43


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: Adolescent,Adult,Childhood; Age of death: normal life expectancy


External Ids:

Orphanet49 336
MESH via Orphanet36 C537929, D005352
ICD10 via Orphanet28 I77.3
UMLS via Orphanet63 C0016052, C1851111

Related Diseases for Fibromuscular Dysplasia

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

(show top 50)    (show all 118)
idRelated DiseaseScoreTop Affiliating Genes
1renovascular hypertension31.0REN, ACE, AGTR1
2vasculitis30.6SERPINA1, APOH
3myocardial infarction30.6ACE, AGT, AGTR1, REN
4retinal artery occlusion30.4APOH
5malignant hypertension30.2ACE, REN
6hypokalemia30.1ACE, REN
7acute myocardial infarction30.1AGTR1, AGT, ACE, SERPINA1
8proteinuria30.0REN, AGT, AGTR1, ACE, APOH
9aneurysm11.0
10cerebritis10.6
11arteriovenous fistula10.4
12intracranial aneurysm10.4
13ischemia10.4
14mouth disease10.4
15carotid artery dissection10.4
16cervicitis10.4
17retinitis10.4
18spontaneous coronary artery dissection10.4
19pulmonary hypertension10.3
20cerebral aneurysms10.3
21hepatitis10.2
22intermittent claudication10.2
23antiphospholipid syndrome10.2
24neurofibromatosis10.2
25hypertrophic cardiomyopathy10.2
26central retinal artery occlusion10.2
27aortic aneurysm10.2
28aortic coarctation10.2
29macrophagic myofasciitis10.2
30otopalatodigital syndrome, type i10.2
31otopalatodigital syndrome, type ii10.2
32melnick-needles syndrome10.2
33tetralogy of fallot10.1
34ehlers-danlos syndrome, type iv10.1
35moyamoya disease10.1
36celiac disease10.1
37vacterl association10.1
38neurofibromatosis, type 110.1
39crohn's disease10.1
40limb ischemia10.1
41takayasu's arteritis10.1
42homocystinuria10.1
43polyarteritis nodosa10.1
44abdominal aortic aneurysm10.1
45ollier disease10.1
46proctitis10.1
47radiculopathy10.1
48coronary aneurysm10.1
49mixed connective tissue disease10.1
50lateral medullary syndrome10.1

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



Diseases related to fibromuscular dysplasia

Symptoms for Fibromuscular Dysplasia

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HPO human phenotypes related to Fibromuscular Dysplasia:

(show all 7)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 stroke HP:0001297
3 myocardial infarction HP:0001658
4 aortic dissection HP:0002647
5 intermittent claudication HP:0004417
6 arterial fibromuscular dysplasia HP:0005313
7 renovascular hypertension HP:0100817

Drugs & Therapeutics for Fibromuscular Dysplasia

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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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MalaCards organs/tissues related to Fibromuscular Dysplasia:

33
Brain, Kidney, Bone, Heart, Smooth muscle, Lung, Breast, Skin, Testes

Animal Models for Fibromuscular Dysplasia or affiliated genes

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MGI Mouse Phenotypes related to Fibromuscular Dysplasia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053868.1AGT, ACE, REN, FLNA, DES
2MP:00053677.9REN, ACE, AGT, AGTR1
3MP:00053857.5DES, FLNA, REN, ACE, AGT, AGTR1
4MP:00053767.1AGTR1, DES, APOH, FLNA, REN, ACE
5MP:00107687.0DES, APOH, FLNA, REN, ACE, AGT

Publications for Fibromuscular Dysplasia

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Articles related to Fibromuscular Dysplasia:

(show top 50)    (show all 525)
idTitleAuthorsYear
1
Fibromuscular dysplasia and coronary heart disease. (25767043)
2015
2
Renal artery stent fracture in patients with fibromuscular dysplasia: a cautionary tale. (23780296)
2013
3
Coronary vasospasm attributable to fibromuscular dysplasia: the long bridge to transplant. (23694776)
2013
4
Renal artery fibromuscular dysplasia in 2,640 renal donor subjects: a CT angiography analysis. (23911200)
2013
5
Acute aortic dissection and stroke in multivessel fibromuscular dysplasia. (23467036)
2013
6
Renal angioplasty for treatment of hypertensive patients with fibromuscular dysplasia. No country for old men. (23636016)
2013
7
Fibromuscular dysplasia-related aneurysms: one-year follow-up after treatment with a flow-diverting stent. (23707102)
2013
8
Diagnosis and management of fibromuscular dysplasia: an expert consensus. (21854373)
2012
9
Fibromuscular dysplasia. (22566353)
2012
10
Images in vascular medicine. A ruptured intracranial aneurysm with underlying cervicocranial fibromuscular dysplasia. (22006367)
2012
11
Low yield of genetic testing for known vascular connective tissue disorders in patients with fibromuscular dysplasia. (23064905)
2012
12
Fibromuscular dysplasia: a differential diagnosis of vasculitis. (22286647)
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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Clinvar genetic disease variations for Fibromuscular Dysplasia:

7
id Gene Variation 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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Search GEO for disease gene expression data for Fibromuscular Dysplasia.

Pathways for genes affiliated with Fibromuscular Dysplasia

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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, REN, ACE
3
Show member pathways
8.2REN, AGTR1, AGT, ACE
4
Show member pathways
8.2REN, ACE, AGT, AGTR1

Compounds for genes affiliated with Fibromuscular Dysplasia

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Compounds related to Fibromuscular Dysplasia according to GeneCards/GeneDecks:

(show top 50)    (show all 122)
idCompoundScoreTop Affiliating Genes
1remikiren45 1310.2AGT, ACE, REN
2enalaprilat459.1REN, AGT, ACE
3lacidipine459.1AGTR1, ACE, REN
4trandolapril45 1310.0ACE, REN, AGTR1
5cilazapril45 1310.0AGTR1, ACE, REN
6eplerenone45 61 30 1312.0AGTR1, ACE, REN
7fosinopril45 1310.0REN, ACE, AGTR1
8quinapril45 51 1311.0ACE, AGTR1, REN
9ramipril45 139.9AGTR1, ACE, REN
10hydralazine45 51 1310.9AGTR1, ACE, REN
11thiazide458.9ACE, REN, AGTR1
12felodipine45 30 1310.9REN, ACE, AGTR1
13pd12331945 309.9ACE, AGT, AGTR1
14dihydropyridine458.8REN, AGTR1, ACE
15spironolactone45 61 30 51 1312.8REN, ACE, AGTR1
16temocaprilat458.7ACE, AGTR1
17carvedilol45 51 30 1311.7ACE, REN, AGTR1
18nitroglycerin45 139.7ACE, AGTR1, REN
19aliskiren45 139.6AGT, REN, ACE, AGTR1
20saralasin458.6AGTR1, AGT, ACE, REN
21eprosartan45 30 1310.6AGT, REN, AGTR1, ACE
22olmesartan45 30 1310.6AGTR1, REN, ACE, AGT
23benazepril45 51 1310.6AGTR1, AGT, ACE, REN
24lisinopril45 51 26 1311.6REN, AGT, AGTR1, ACE
25chymostatin458.6AGTR1, ACE, AGT, REN
26valsartan45 61 30 1311.6AGT, REN, ACE, AGTR1
27telmisartan45 30 1310.6AGT, AGTR1, REN, ACE
28perindopril45 51 1310.6REN, ACE, AGT, AGTR1
29atenolol45 51 30 26 1312.6REN, AGTR1, ACE, AGT
30irbesartan45 30 51 1311.6REN, ACE, AGT, AGTR1
31candesartan45 51 30 1311.6REN, AGT, AGTR1, ACE
32diltiazem45 30 51 1311.6REN, AGT, AGTR1, ACE
33hydrochlorothiazide45 30 51 26 1312.6AGT, ACE, REN, AGTR1
34amlodipine45 51 26 1311.6REN, AGTR1, ACE, AGT
35enalapril45 51 1310.6ACE, AGT, AGTR1, REN
36ang ii458.5AGTR1, REN, AGT, ACE
37captopril45 61 51 30 1312.5ACE, AGT, REN, AGTR1
38losartan45 51 30 1311.5AGT, REN, ACE, AGTR1
39acth458.4SERPINA1, AGTR1, REN, AGT
40fibrinogen458.4APOH, DES, AGT, AGTR1, SERPINA1
41nifedipine45 30 51 1311.4AGTR1, ACE, REN, AGT
42heparin45 30 26 1311.2AGTR1, DES, APOH, SERPINA1, AGT
43prostacyclin458.1REN, ACE, APOH, AGTR1, AGT
44norepinephrine45 26 1310.1DES, AGT, AGTR1, ACE, REN
45cholesterol45 30 26 1310.7APOH, AGTR1, ACE, REN, AGT, SERPINA1
46creatinine457.4REN, AGTR1, AGT, SERPINA1, DES, APOH
47nitric oxide45 26 139.3REN, DES, ACE, APOH, AGT, AGTR1
48lipid457.2AGTR1, FLNA, AGT, CDIPT, ACE, APOH
49calcium45 51 26 139.9REN, DES, ACE, CDIPT, APOH, AGT
50glucose456.8DES, APOH, REN, ACE, CDIPT, AGT

GO Terms for genes affiliated with Fibromuscular Dysplasia

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Cellular components related to Fibromuscular Dysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:00055768.0SERPINA1, FLNA, REN, ACE, AGT
2extracellular spaceGO:00056157.6APOH, SERPINA1, REN, ACE, AGT

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

(show all 22)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of NAD(P)H oxidase activityGO:00338649.6AGT, AGTR1
2regulation of blood vessel size by renin-angiotensinGO:00020349.6AGT, AGTR1
3regulation of renal sodium excretionGO:00358139.6AGTR1, AGT
4positive regulation of cholesterol esterificationGO:00108739.6AGT, AGTR1
5low-density lipoprotein particle remodelingGO:00343749.6AGTR1, AGT
6regulation of proteolysisGO:00301629.6AGT, SERPINA1
7positive regulation of cellular protein metabolic processGO:00322709.6AGT, AGTR1
8positive regulation of macrophage derived foam cell differentiationGO:00107449.5AGTR1, AGT
9positive regulation of reactive oxygen species metabolic processGO:020003799.5AGTR1, AGT
10regulation of renal output by angiotensinGO:00020199.5AGT, ACE
11negative regulation of angiogenesisGO:00165259.4AGT, APOH
12phospholipase C-activating G-protein coupled receptor signaling pathwayGO:00072009.4AGTR1, AGT
13renin-angiotensin regulation of aldosterone productionGO:00020189.3AGTR1, AGT, REN
14positive regulation of inflammatory responseGO:00507299.3AGT, AGTR1
15regulation of cell growthGO:00015589.3AGTR1, AGT
16regulation of systemic arterial blood pressure by renin-angiotensinGO:00030819.3AGTR1, ACE
17regulation of vasodilationGO:00423129.3AGTR1, ACE
18blood vessel remodelingGO:00019749.3ACE, AGT
19angiotensin maturationGO:00020039.1REN, ACE, AGT
20regulation of blood pressureGO:00082179.0ACE, REN
21regulation of vasoconstrictionGO:00192298.8ACE, AGT, AGTR1
22kidney developmentGO:00018228.5AGTR1, AGT, ACE, REN

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

idNameGO IDScoreTop Affiliating Genes
1glycoprotein bindingGO:00019489.7APOH, FLNA
2bradykinin receptor bindingGO:00317118.9ACE, AGTR1
3protein bindingGO:00055156.6DES, APOH, SERPINA1, FLNA, ACE, AGT

Products for genes affiliated with Fibromuscular Dysplasia

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Sources for Fibromuscular Dysplasia

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet