MCID: FBR032
MIFTS: 39

Fibromuscular Dysplasia malady

Category: Muscle diseases

Aliases & Classifications for Fibromuscular Dysplasia

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Aliases & Descriptions for Fibromuscular Dysplasia:

Name: Fibromuscular Dysplasia 46 47 48 66
Muscular Dystrophy, Facioscapulohumeral 66
Fibromuscular Dysplasia of Arteries 46
 
Frontometaphyseal Dysplasia 66
Fmd 46

Characteristics:



Classifications:



Summaries for Fibromuscular Dysplasia

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NINDS:47 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 antiphospholipid syndrome and myocardial infarction, and has symptoms including stroke, myocardial infarction and aortic dissection. An important gene associated with Fibromuscular Dysplasia is ACE (Angiotensin I Converting Enzyme), and among its related pathways are Renin secretion and MicroRNAs in cardiomyocyte hypertrophy. Affiliated tissues include brain, kidney and bone, and related mouse phenotypes are behavior/neurological and renal/urinary system.

NIH Rare Diseases:46 Fibromuscular dysplasia (fmd) is a condition characterized by abnormal development or growth of cells in the walls of blood vessels (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 enlargement 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. the cause of fmd is unknown, however, genetic and hormonal factors may be involved. treatment is based on the arteries affected and the progression and severity of the disease. last updated: 8/9/2016

Wikipedia:69 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 113)
idRelated DiseaseScoreTop Affiliating Genes
1antiphospholipid syndrome30.4ACE, AGT, AGTR1
2myocardial infarction29.8ACE, AGT, AGTR1, TGFB1
3frontometaphyseal dysplasia11.5
4facioscapulohumeral muscular dystrophy 110.9
5aneurysm10.7
6pediatric ulcerative colitis10.6ACE, AGT
7familial hypopituitarism10.5AGT, AGTR1
8broad ligament malignant neoplasm10.5ACE, AGTR1
9podder-tolmie syndrome10.5AGT, AGTR1
10perineocele10.5ACE, AGT
11plica syndrome10.5ACE, AGT
12fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex i deficiency10.4ACE, TGFB1
13renovascular hypertension10.4
14acute myeloblastic leukemia without maturation10.4ACE, AGTR1
15burns10.3ACE, TGFB1
16congenital methemoglobinemia10.3AGTR1, TGFB1
17cerebritis10.3
18ovarian cancer10.3ACE, AGT, AGTR1
19casr-related disorders10.3ACE, AGT, AGTR1
20adenocarcinoma10.3ACE, AGTR1
21chylocele of tunica vaginalis10.3ACE, AGT, AGTR1
22aortic valves stenosis of the child10.3ACE, AGT, AGTR1
23irritable bowel syndrome10.3ACE, AGT, AGTR1
24benign hypertensive renal disease10.3ACE, AGT, AGTR1
25renal tubular dysgenesis10.3ACE, AGT, AGTR1
26central core myopathy10.3OBSCN, RNF213
27joint disorders10.3ACE, AGT, AGTR1
28collecting duct carcinoma10.3ACE, AGT, AGTR1
29herpetic gastritis10.3ACE, AGT, AGTR1
30mouth disease10.3
31littre gland carcinoma10.3ACE, AGT, AGTR1
32renal hypertension10.3MYLK, TGFB1
33peripheral artery disease10.2ACE, AGT, AGTR1
34caplan's syndrome10.2CDIPT, SERPINA1
35alpha-2-plasmin inhibitor deficiency10.2ACE, AGTR1
36benign neonatal seizures10.2ACE, TGFB1
37pleomorphic carcinoma10.2PGR, SERPINA1
38arteriovenous fistula10.2
39retinitis10.2
40hypertension, essential10.2ACE, AGT, AGTR1
41small intestinal sarcoma10.2PGR, SERPINA1
42cystinosis10.1ACE, AGT
43intracranial aneurysm10.1
44ischemia10.1
45laryngeal tuberculosis10.1ACE, SERPINA1, TGFB1
46otopalatodigital syndrome, type i10.1
47fundus dystrophy10.1ACE, SERPINA1, TGFB1
48hypopigmentation of eyelid10.1ACE, AGTR1, TGFB1
49discitis10.1ACE, AGTR1, TGFB1
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 stroke HP:0001297
2 myocardial infarction HP:0001658
3 aortic dissection HP:0002647
4 intermittent claudication HP:0004417
5 arterial fibromuscular dysplasia HP:0005313
6 renovascular hypertension HP:0100817

Drugs & Therapeutics for Fibromuscular Dysplasia

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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
4Cross-sectional Study of Patients With Renal or Craniocervical Fibromuscular DysplasiaCompletedNCT02884141
5Renal Arteries Dysplastic Aneurysms: Anatomopathological and Genetic StudyCompletedNCT02528149
6Defining the Basis of Fibromuscular Dysplasia (FMD)RecruitingNCT01967511
7The Study of the Prevalence Fibromuscular Dysplasia in Patient With Haematoma or Spontaneous Coronary Artery Dissection.RecruitingNCT02799186
8Assessment of Renal Artery Fibromuscular Dysplasia: From Diagnosis to TreatmentRecruitingNCT02586870
9Prevalence and Long-term Impact of Non-atherosclerotic CADRecruitingNCT01479140
10A 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:

34
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:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053867.5ACE, AGT, AGTR1, MYLK, PGR, RNF213
2MP:00053677.5ACE, AGT, AGTR1, DYNC2H1, MYLK, TGFB1
3MP:00053856.1ACE, AGT, AGTR1, CDIPT, DYNC2H1, MYLK

Publications for Fibromuscular Dysplasia

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Articles related to Fibromuscular Dysplasia:

(show top 50)    (show all 570)
idTitleAuthorsYear
1
Unusual lamellar calcifications in two rare cases of splenic aneurysms associated with fibromuscular dysplasia. (27031177)
2016
2
The Diagnosis and Treatment of Fibromuscular Dysplasia: An Update for Cardiologists. (27029382)
2016
3
My Life With Fibromuscular Dysplasia: A Sword of Damocles. (27601456)
2016
4
Fibromuscular Dysplasia: Looking Beyond the "String of Beads". (27665162)
2016
5
Differences between the pediatric and adult presentation of fibromuscular dysplasia: results from the US Registry. (26525198)
2016
6
Characteristic Distribution Pattern of Lysophosphatidylcholine in Fibromuscular Dysplasia-Associated Visceral Artery Aneurysms Compared with Atherosclerotic Visceral Artery Aneurysms. (26666464)
2015
7
Kidney transplantation in infantile myofibromatosis and fibromuscular dysplasia: a case report. (26603035)
2015
8
Endovascular thrombectomy and stenting in the management of carotid fibromuscular dysplasia presenting with major ischemic stroke. (25189486)
2014
9
Renal artery stent fracture in patients with fibromuscular dysplasia: a cautionary tale. (23780296)
2013
10
Renal artery fibromuscular dysplasia in 2,640 renal donor subjects: a CT angiography analysis. (23911200)
2013
11
Fibromuscular dysplasia-related aneurysms: one-year follow-up after treatment with a flow-diverting stent. (23707102)
2013
12
Images in vascular medicine. A ruptured intracranial aneurysm with underlying cervicocranial fibromuscular dysplasia. (22006367)
2012
13
Standing arterial waves is NOT fibromuscular dysplasia. (22338008)
2012
14
Spontaneous coronary artery dissection in patients with fibromuscular dysplasia: a case series. (22338003)
2012
15
Association between 2 angiographic subtypes of renal artery fibromuscular dysplasia and clinical characteristics. (23155180)
2012
16
Macroaneurysm in a renal fibromuscular dysplasia. (21343596)
2011
17
Carotid and vertebral arterial fibromuscular dysplasia masquerading as severe preeclampsia: a case report. (21902099)
2011
18
Diagnosing and treating atypical arterial pathologies of aortic arch vessels: dissection and fibromuscular dysplasia. (21718931)
2011
19
Ischemic stroke because of intracranial fibromuscular dysplasia. (21310338)
2011
20
Renal transplantation for fibromuscular dysplasia. (21446982)
2011
21
Fibromuscular dysplasia presenting as a renal infarction: a case report. (20591148)
2010
22
Fibromuscular dysplasia causing renal artery aneurysm and renovascular hypertension: a case report. (21341557)
2010
23
Brachial artery fibromuscular dysplasia. (19896327)
2010
24
Case report and review: epicardial coronary artery fibromuscular dysplasia. (18242135)
2009
25
Sudden hearing loss due to fibromuscular dysplasia. (18925996)
2009
26
The long-term outcomes of percutaneous therapy for renal artery fibromuscular dysplasia. (18692345)
2008
27
A 45-year-old woman with fibromuscular dysplasia and celiac disease. (17289182)
2007
28
Post-mortem angiographic and histologic findings of coronary artery fibromuscular dysplasia. (17905452)
2007
29
Renal fibromuscular dysplasia in elderly persons. (15806462)
2005
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
Stroke in a young man with fibromuscular dysplasia of the cranial vessels with anticardiolipin antibodies: a case report. (11487190)
2001
34
Fibromuscular dysplasia. (10647953)
2000
35
Fibromuscular Dysplasia of the Aorta Presenting as Multiple Recurrent Thoracic Aneurysms (9585453)
1998
36
Posttraumatic bilateral carotid artery and right vertebral artery dissections in a patient with fibromuscular dysplasia: case report and review of the literature. (9498524)
1998
37
Fibromuscular dysplasia of the brachial artery: an endovascular approach. (7856978)
1995
38
Fibromuscular dysplasia of the renal arteries associated with antiphospholipid autoantibodies: two case reports. (1442763)
1992
39
Fibromuscular dysplasia of renal arteries and acute loin pain. (2107919)
1990
40
Orthostatic hypertension due to coexistence of renal fibromuscular dysplasia and nephroptosis. (2977192)
1988
41
Intracranial multiple berry aneurysms associated with fibromuscular dysplasia and mixed connective tissue disease--case report. (2441287)
1987
42
Fibromuscular dysplasia of the renal artery--management and outcome. (2953159)
1987
43
Fibromuscular dysplasia vs catheter-induced renal artery spasm. (3492902)
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 middle cerebral and renal arteries. Report of a case with autopsy verification. (4036605)
1985
48
Ischaemic proctitis and adventitial fibromuscular dysplasia of the superior rectal artery. (6689966)
1984
49
Fibromuscular dysplasia of the carotid artery. (6582839)
1983
50
Percutaneous transluminal renal angioplasty in renovascular hypertension due to atheroma or fibromuscular dysplasia. (6223227)
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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Pathways related to Fibromuscular Dysplasia according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.5ACE, AGT, AGTR1
29.2AGT, MYLK, TGFB1
3
Show member pathways
9.0ACE, AGT, AGTR1, TGFB1

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 22)
idNameGO IDScoreTop Affiliating Genes
1regulation of renal output by angiotensinGO:000201910.5ACE, AGT
2regulation of systemic arterial blood pressure by renin-angiotensinGO:000308110.5ACE, AGTR1
3renin-angiotensin regulation of aldosterone productionGO:000201810.4AGT, AGTR1
4regulation of blood vessel size by renin-angiotensinGO:000203410.4AGT, AGTR1
5regulation of vasodilationGO:004231210.4ACE, AGTR1
6positive regulation of cholesterol esterificationGO:001087310.4AGT, AGTR1
7low-density lipoprotein particle remodelingGO:003437410.3AGT, AGTR1
8positive regulation of reactive oxygen species metabolic processGO:200037910.3AGT, AGTR1
9mononuclear cell proliferationGO:003294310.3ACE, TGFB1
10regulation of renal sodium excretionGO:003581310.2AGT, AGTR1
11angiotensin maturationGO:000200310.2ACE, AGT
12positive regulation of branching involved in ureteric bud morphogenesisGO:009019010.2AGT, TGFB1
13positive regulation of NAD(P)H oxidase activityGO:003386410.2AGT, AGTR1
14positive regulation of macrophage derived foam cell differentiationGO:001074410.2AGT, AGTR1
15positive regulation of superoxide anion generationGO:003293010.0AGT, TGFB1
16blood vessel remodelingGO:00019749.9ACE, AGT
17positive regulation of protein tyrosine kinase activityGO:00610989.8ACE, AGT
18positive regulation of cellular protein metabolic processGO:00322709.7AGT, AGTR1, TGFB1
19kidney developmentGO:00018229.7ACE, AGT, AGTR1
20regulation of vasoconstrictionGO:00192299.5ACE, AGT, AGTR1
21negative regulation of gene expressionGO:00106299.1ACE, PGR, TGFB1
22regulation of cell proliferationGO:00421279.0AGT, AGTR1, TGFB1

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

idNameGO IDScoreTop Affiliating Genes
1bradykinin receptor bindingGO:00317119.8ACE, AGTR1

Sources for Fibromuscular Dysplasia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet