MCID: FBR032
MIFTS: 42

Fibromuscular Dysplasia malady

Rare diseases, Muscle diseases categories

Aliases & Classifications for Fibromuscular Dysplasia

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Sources:
65UMLS, 45NIH Rare Diseases, 46NINDS, 47Novoseek
See all sources

Aliases & Descriptions for Fibromuscular Dysplasia:

Name: Fibromuscular Dysplasia 45 46 47 65
Fibromuscular Dysplasia of Arteries 45 65
Muscular Dystrophy, Facioscapulohumeral 65
 
Frontometaphyseal Dysplasia 65
Fmd 45


Classifications:



Summaries for Fibromuscular Dysplasia

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NINDS:46 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 renal hypertension and myocardial infarction, 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 Response to elevated platelet cytosolic Ca2+ and Peptide hormone metabolism. Affiliated tissues include brain, kidney and bone, and related mouse phenotypes are renal/urinary system and reproductive system.

NIH Rare Diseases: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. 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:68 Fibromuscular dysplasia, often abbreviated as FMD, is a non-atherosclerotic, non-inflammatory disease of... more...

Related Diseases for Fibromuscular Dysplasia

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

(show top 50)    (show all 180)
idRelated DiseaseScoreTop Affiliating Genes
1renal hypertension30.4ACE, AGTR1, REN
2myocardial infarction30.4ACE, AGT, AGTR1, REN
3antiphospholipid syndrome30.3ACE, AGTR1, TGFB1
4primary hyperoxaluria30.2ACE, REN
5hypertension, diastolic30.2ACE, REN
6coronary artery disease30.1ACE, AGT, AGTR1
7single ventricular heart30.0ACE, TGFB1
8diabetes mellitus, insulin-dependent29.7ACE, AGT, AGTR1, REN, TGFB1
9hypertension, essential29.6ACE, AGT, AGTR1, REN, TGFB1
10aneurysm11.0
11renovascular hypertension10.7
12cerebritis10.6
13arteriovenous fistula10.5
14intracranial aneurysm10.5
15ischemia10.5
16peripheral vascular disease10.4
17carotid artery dissection10.4
18cervicitis10.4
19retinitis10.4
20vasculitis10.4
21spontaneous coronary artery dissection10.4
22mouth disease10.4
23anemia, sideroblastic, pyridoxine-refractory, autosomal recessive10.3
24pulmonary hypertension10.3
25renal artery disease10.3
26cerebral aneurysms10.3
27renal dysplasia10.3
28alpha 1-antitrypsin deficiency10.3
29hepatitis10.3
30intermittent claudication10.3
31central retinal artery occlusion10.3
32hypertrophic cardiomyopathy10.3
33neurofibromatosis10.3
34aortic aneurysm10.3
35artery disease10.3
36retinal artery occlusion10.3
37vascular disease10.3
38aortic coarctation10.3
39macrophagic myofasciitis10.3
40cardiomyopathy10.3
41renal dysplasia, bilateral10.3
42otopalatodigital syndrome, type i10.2
43frontometaphyseal dysplasia10.2
44pediatric multiple sclerosis10.2ACE, AGT
45familial hyperthyroidism due to mutations in tsh receptor10.2AGT, AGTR1
46hyposmia nasal hypoplasia hypogonadism10.2ACE, REN
47hypobetalipoproteinaemia ataxia hearing loss10.1ACE, REN
48meningococcemia10.1AGT, AGTR1
49urinary tract non-invasive transitional cell neoplasm10.1ACE, REN
50vagus nerve neoplasm10.1CDIPT, SERPINA1

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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Drugs for Fibromuscular Dysplasia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
GadobutrolapprovedPhase 347138071-82-615814656
Synonyms:
 
Gadavist
gadolinium(III) 2,2',2''-(10-((2R,3S )-1,3,4-trihydroxybutan-2-yl)-1,4,7,10-tetraazacyclododecane-1,4,7-triyl)triacetate

Interventional clinical trials:

idNameStatusNCT IDPhase
1Gadobutrol Enhanced MRA of the Renal ArteriesCompletedNCT01344460Phase 3
2Pathophysiological Mechanisms of Fibromuscular DysplasiaCompletedNCT01935752
3CAUSE Trial: Patient Specific-Cellular Characterization of Fibromuscular Dysplasia and High-Risk Atherosclerotic EndotheliumCompletedNCT01808729
4Renal Arteries Dysplastic Aneurysms: Anatomopathological and Genetic StudyCompletedNCT02528149
5Defining the Basis of Fibromuscular Dysplasia (FMD)RecruitingNCT01967511
6Assessment of Renal Artery Fibromuscular Dysplasia: From Diagnosis to TreatmentRecruitingNCT02586870
7Prevalence and Long-term Impact of Non-atherosclerotic CADRecruitingNCT01479140

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, Skin, Testes, Breast, Lung

Animal Models for Fibromuscular Dysplasia or affiliated genes

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MGI Mouse Phenotypes related to Fibromuscular Dysplasia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053677.9ACE, AGT, AGTR1, REN, TGFB1
2MP:00053897.9ACE, AGT, FLNA, REN, TGFB1
3MP:00053857.6ACE, AGT, AGTR1, FLNA, REN, TGFB1
4MP:00053787.3ACE, AGT, AGTR1, FLNA, REN, TGFB1
5MP:00053877.1ACE, AGT, AGTR1, FLNA, REN, TGFB1

Publications for Fibromuscular Dysplasia

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Articles related to Fibromuscular Dysplasia:

(show top 50)    (show all 523)
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:

5
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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GO Terms for genes affiliated with Fibromuscular Dysplasia

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Cellular components related to Fibromuscular Dysplasia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granule lumenGO:00310939.9SERPINA1, TGFB1
2extracellular spaceGO:00056157.7ACE, AGT, REN, SERPINA1, TGFB1
3extracellular regionGO:00055767.1ACE, AGT, FLNA, REN, SERPINA1, TGFB1

Biological processes related to Fibromuscular Dysplasia according to GeneCards Suite gene sharing:

(show all 33)
idNameGO IDScoreTop Affiliating Genes
1regulation of renal output by angiotensinGO:000201910.4ACE, AGT
2regulation of systemic arterial blood pressure by renin-angiotensinGO:000308110.4ACE, AGTR1
3positive regulation of NAD(P)H oxidase activityGO:003386410.3AGT, AGTR1
4regulation of blood vessel size by renin-angiotensinGO:000203410.3AGT, AGTR1
5regulation of vasodilationGO:004231210.2ACE, AGTR1
6positive regulation of cholesterol esterificationGO:001087310.2AGT, AGTR1
7low-density lipoprotein particle remodelingGO:003437410.2AGT, AGTR1
8mononuclear cell proliferationGO:003294310.2ACE, TGFB1
9regulation of renal sodium excretionGO:003581310.2AGT, AGTR1
10positive regulation of protein tyrosine kinase activityGO:006109810.1ACE, AGT
11blood vessel remodelingGO:000197410.1ACE, AGT
12positive regulation of inflammatory responseGO:005072910.1AGT, AGTR1
13positive regulation of branching involved in ureteric bud morphogenesisGO:009019010.1AGT, TGFB1
14epithelial to mesenchymal transitionGO:000183710.0FLNA, TGFB1
15positive regulation of macrophage derived foam cell differentiationGO:001074410.0AGT, AGTR1
16phospholipase C-activating G-protein coupled receptor signaling pathwayGO:000720010.0AGT, AGTR1
17positive regulation of fibroblast proliferationGO:00481469.9AGT, TGFB1
18drinking behaviorGO:00427569.8AGT, REN
19positive regulation of superoxide anion generationGO:00329309.8AGT, TGFB1
20beta-amyloid metabolic processGO:00504359.8ACE, REN
21regulation of inflammatory responseGO:00507279.8AGT, AGTR1
22positive regulation of reactive oxygen species metabolic processGO:20003799.8AGT, AGTR1
23regulation of vasoconstrictionGO:00192299.8ACE, AGT, AGTR1
24regulation of blood volume by renin-angiotensinGO:00020169.5AGT, REN
25platelet degranulationGO:00025769.5FLNA, SERPINA1, TGFB1
26renin-angiotensin regulation of aldosterone productionGO:00020189.4AGT, AGTR1, REN
27positive regulation of cellular protein metabolic processGO:00322709.4AGT, AGTR1, TGFB1
28angiotensin maturationGO:00020039.3ACE, AGT, REN
29regulation of blood pressureGO:00082179.3ACE, AGT, REN
30regulation of cell proliferationGO:00421279.2AGT, AGTR1, TGFB1
31platelet activationGO:00301689.0FLNA, SERPINA1, TGFB1
32kidney developmentGO:00018228.7ACE, AGT, AGTR1, REN
33cellular protein metabolic processGO:00442678.6ACE, AGT, REN, SERPINA1

Molecular functions related to Fibromuscular Dysplasia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1bradykinin receptor bindingGO:003171110.1ACE, AGTR1
2glycoprotein bindingGO:00019489.0FLNA, SERPINA1, TGFB1

Sources for Fibromuscular Dysplasia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet