MCID: FBR032
MIFTS: 49

Fibromuscular Dysplasia malady

Categories: Rare diseases, Muscle diseases

Aliases & Classifications for Fibromuscular Dysplasia

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Aliases & Descriptions for Fibromuscular Dysplasia:

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

Characteristics:



Classifications:



External Ids:

UMLS65 C0016052, C0265293

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 muscular dystrophy, facioscapulohumeral, is related to malignant hypertension and antiphospholipid syndrome, and has symptoms including renovascular hypertension, arterial fibromuscular dysplasia and intermittent claudication. An important gene associated with Fibromuscular Dysplasia is AGTR1 (Angiotensin II Receptor Type 1), and among its related pathways are Peptide hormone metabolism and Renin secretion. Affiliated tissues include brain, kidney and heart, and related mouse phenotypes are adipose tissue and renal/urinary 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 (FMD) is a non-atherosclerotic, non-inflammatory disease of the blood vessels... 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 141)
idRelated DiseaseScoreTop Affiliating Genes
1malignant hypertension30.2ACE, REN
2antiphospholipid syndrome30.0ACE, AGTR1, TGFB1
3frontometaphyseal dysplasia11.5
4facioscapulohumeral muscular dystrophy 110.9
5aneurysm10.7
6spontaneous coronary artery dissection10.7
7ischemic optic neuropathy10.5ACE, AGTR1
8pediatric multiple sclerosis10.5ACE, AGT
9meningococcemia10.5AGT, AGTR1
10acute myeloblastic leukemia with maturation10.4ACE, AGTR1
11bernard-soulier syndrome, type a210.4ACE, AGTR1
12parametritis10.4ACE, AGT
13hyposmia nasal hypoplasia hypogonadism10.4ACE, REN
14kidney cortex necrosis10.4ACE, REN
15atrial septal defect 7, with or without av conduction defects10.4ACE, REN
16renovascular hypertension10.4
17primary non-gestational choriocarcinoma of ovary10.4ACE, TGFB1
18hypochromic microcytic anemia with iron overload10.4ACE, REN
19familial hyperthyroidism due to mutations in tsh receptor10.3AGTR1, REN
20multicentric reticulohistiocytosis10.3ACE, REN
21sympathetic ophthalmia10.3AGTR1, REN
22cerebritis10.3
23hypoaldosteronism, congenital, due to cmo ii deficiency10.3AGT, REN
24purpura simplex10.3ACE, REN
25mouth disease10.3
26ceroid lipofuscinosis, neuronal, 610.3ACE, AGT
27preeclampsia/eclampsia 110.2AGT, AGTR1
28subclavian steal syndrome10.2ACE, AGT
29hemangioma10.2ACE, TGFB1
30aortic disease10.2AGTR1, TGFB1
31vascular dementia10.2AGTR1, PGR
32aortic dissection lentiginosis10.2ACE, AGT, AGTR1
33single ventricular heart10.2ACE, TGFB1
34senile atrophy of choroid10.2ACE, AGT, AGTR1
35islet cell tumor10.2ACE, AGT, AGTR1
36abnormal pupillary function10.2ACE, AGT, AGTR1
37signet ring cell variant cervical mucinous adenocarcinoma10.2ACE, AGT, AGTR1
38anisomastia10.2AGT, REN
39oral candidiasis10.2REN, TGFB1
40lymphoepithelioma-like carcinoma10.1PGR, SERPINA1
41chronic venous insufficiency10.1ACE, AGTR1
42myocardial infarction10.1
43arteriovenous fistula10.1
44intracranial aneurysm10.1
45ischemia10.1
46breast leiomyosarcoma10.1PGR, REN
47otopalatodigital syndrome, type i10.1
48glandular cystitis10.1ACE, AGTR1, REN
49coxa vara, congenital10.1ACE, AGTR1, REN
50cervicitis10.1

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

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
1Antihypertensive Agents3618
2Anticholesteremic Agents1732
3Angiotensin-Converting Enzyme Inhibitors634
4Angiotensin Receptor Antagonists1039

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
8A Prospective Danish National Registry of PTRA in Patients With Renovascular HypertensionRecruitingNCT02770066

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, Heart, Breast, Endothelial, Liver, 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:00053759.0ACE, AGT, AGTR1, TGFB1
2MP:00053678.2ACE, AGT, AGTR1, REN, TGFB1
3MP:00053898.0ACE, AGT, PGR, REN, TGFB1
4MP:00053867.6ACE, AGT, AGTR1, PGR, REN, TGFB1
5MP:00053877.4ACE, AGT, AGTR1, PGR, REN, TGFB1
6MP:00107686.8ACE, AGT, AGTR1, CDIPT, PGR, REN
7MP:00053856.6ACE, AGT, AGTR1, CDIPT, PGR, REN

Publications for Fibromuscular Dysplasia

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Articles related to Fibromuscular Dysplasia:

(show top 50)    (show all 552)
idTitleAuthorsYear
1
Epidemiology of fibromuscular dysplasia: A review of the literature. (27067138)
2016
2
Unusual lamellar calcifications in two rare cases of splenic aneurysms associated with fibromuscular dysplasia. (27031177)
2016
3
The Diagnosis and Treatment of Fibromuscular Dysplasia: An Update for Cardiologists. (27029382)
2016
4
Fibromuscular dysplasia and coronary heart disease. (25767043)
2015
5
Renal artery stent fracture in patients with fibromuscular dysplasia: a cautionary tale. (23780296)
2013
6
Coronary vasospasm attributable to fibromuscular dysplasia: the long bridge to transplant. (23694776)
2013
7
Renal artery fibromuscular dysplasia in 2,640 renal donor subjects: a CT angiography analysis. (23911200)
2013
8
Acute aortic dissection and stroke in multivessel fibromuscular dysplasia. (23467036)
2013
9
Renal angioplasty for treatment of hypertensive patients with fibromuscular dysplasia. No country for old men. (23636016)
2013
10
Diagnosis and management of fibromuscular dysplasia: an expert consensus. (21854373)
2012
11
Fibromuscular dysplasia. (22566353)
2012
12
Images in vascular medicine. A ruptured intracranial aneurysm with underlying cervicocranial fibromuscular dysplasia. (22006367)
2012
13
Low yield of genetic testing for known vascular connective tissue disorders in patients with fibromuscular dysplasia. (23064905)
2012
14
Fibromuscular dysplasia: a differential diagnosis of vasculitis. (22286647)
2012
15
Macroaneurysm in a renal fibromuscular dysplasia. (21343596)
2011
16
Carotid and vertebral arterial fibromuscular dysplasia masquerading as severe preeclampsia: a case report. (21902099)
2011
17
Diagnosing and treating atypical arterial pathologies of aortic arch vessels: dissection and fibromuscular dysplasia. (21718931)
2011
18
Ischemic stroke because of intracranial fibromuscular dysplasia. (21310338)
2011
19
Renal transplantation for fibromuscular dysplasia. (21446982)
2011
20
Case report and review: epicardial coronary artery fibromuscular dysplasia. (18242135)
2009
21
The long-term outcomes of percutaneous therapy for renal artery fibromuscular dysplasia. (18692345)
2008
22
An uncommon variant of fibromuscular dysplasia. (18190503)
2008
23
Fibromuscular dysplasia: noninvasive evaluation of unusual case of renal and mesenteric involvement. (18313108)
2008
24
Fibromuscular dysplasia of renal arteries. (18070585)
2007
25
Symptoms of a stroke in a 41-year-old woman. Fibromuscular dysplasia (FMD). (17601222)
2007
26
Fibromuscular dysplasia recurrence after kidney transplantation: case report. (16878439)
2006
27
Renal fibromuscular dysplasia in elderly persons. (15806462)
2005
28
Fatal mesenteric fibromuscular dysplasia: a case report and review of the literature. (15159274)
2004
29
Surgery too drastic to treat fibromuscular dysplasia in an elderly patient. (12912758)
2003
30
Incidence of donor renal fibromuscular dysplasia: does it justify routine angiography? (11965042)
2002
31
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
32
Treatment of renal artery fibromuscular dysplasia with balloon angioplasty: a prospective follow-up study. (11863332)
2002
33
Coexistence of hypertrophic cardiomyopathy and fibromuscular dysplasia of the superior mesenteric artery. (11336027)
2001
34
Stroke in a young man with fibromuscular dysplasia of the cranial vessels with anticardiolipin antibodies: a case report. (11487190)
2001
35
Childhood subarachnoid hemorrhage associated with fibromuscular dysplasia. (11465797)
2001
36
An unusual type of combined aortic coarctation due to fibromuscular dysplasia. (10386705)
1999
37
A case of sudden death caused by fibromuscular dysplasia. (10605412)
1999
38
Prevalence of cerebral aneurysms in patients with fibromuscular dysplasia: a reassessment. (9488296)
1998
39
Fibromuscular Dysplasia of the Aorta Presenting as Multiple Recurrent Thoracic Aneurysms (9585453)
1998
40
Posttraumatic bilateral carotid artery and right vertebral artery dissections in a patient with fibromuscular dysplasia: case report and review of the literature. (9498524)
1998
41
Fibromuscular dysplasia of the brachial artery: an endovascular approach. (7856978)
1995
42
Successful renal autotransplantation for renal failure with prolonged oliguria in a Jehovah's Witness with fibromuscular dysplasia of the renal arteries. (7830849)
1994
43
Fibromuscular dysplasia of the renal arteries associated with antiphospholipid autoantibodies: two case reports. (1442763)
1992
44
Recurrent aneurysms of the upper arteries of the lower limb: an atypical manifestation of fibromuscular dysplasia--a case report. (3592298)
1987
45
Fibromuscular dysplasia of the internal carotid artery: an unusual cause of reversible ischemic neurologic disease. (3766038)
1986
46
Gruntzig balloon dilation for fibromuscular dysplasia of the internal carotid arteries. (3157891)
1985
47
Fibromuscular dysplasia in the extremities. (4030883)
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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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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Biological processes related to Fibromuscular Dysplasia according to GeneCards Suite gene sharing:

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1regulation of blood vessel size by renin-angiotensinGO:000203410.4AGT, AGTR1
2regulation of renal output by angiotensinGO:000201910.3ACE, AGT
3positive regulation of cholesterol esterificationGO:001087310.3AGT, AGTR1
4positive regulation of macrophage derived foam cell differentiationGO:001074410.2AGT, AGTR1
5blood vessel remodelingGO:000197410.2ACE, AGT
6mononuclear cell proliferationGO:003294310.2ACE, TGFB1
7positive regulation of superoxide anion generationGO:003293010.2AGT, TGFB1
8positive regulation of branching involved in ureteric bud morphogenesisGO:009019010.1AGT, TGFB1
9positive regulation of reactive oxygen species metabolic processGO:200037910.1AGT, AGTR1
10phospholipase C-activating G-protein coupled receptor signaling pathwayGO:000720010.0AGT, AGTR1
11positive regulation of inflammatory responseGO:00507299.9AGT, AGTR1
12renin-angiotensin regulation of aldosterone productionGO:00020189.9AGT, REN
13positive regulation of peptidyl-tyrosine phosphorylationGO:00507319.9AGT, TGFB1
14positive regulation of cellular protein metabolic processGO:00322709.7AGT, AGTR1, TGFB1
15female pregnancyGO:00075659.7AGT, TGFB1
16regulation of blood volume by renin-angiotensinGO:00020169.7AGT, REN
17positive regulation of fibroblast proliferationGO:00481469.7AGT, TGFB1
18regulation of cell proliferationGO:00421279.2AGT, AGTR1, TGFB1
19response to organic substanceGO:00100339.1REN, TGFB1
20regulation of vasoconstrictionGO:00192299.0ACE, AGT, AGTR1
21cellular protein metabolic processGO:00442678.7ACE, REN, SERPINA1

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