MCID: FBR032
MIFTS: 45

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 47 48 49 67
Muscular Dystrophy, Facioscapulohumeral 67
Fibromuscular Dysplasia of Arteries 47
 
Frontometaphyseal Dysplasia 67
Fmd 47

Characteristics:


Classifications:



Summaries for Fibromuscular Dysplasia

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NINDS:48 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 FLNA (Filamin A), and among its related pathways are MicroRNAs in cardiomyocyte hypertrophy and Peptide hormone metabolism. Affiliated tissues include brain, kidney and bone, and related mouse phenotypes are muscle and immune system.

Wikipedia:70 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 123)
idRelated DiseaseScoreTop Affiliating Genes
1antiphospholipid syndrome29.5ACE, AGT, AGTR1, REN
2myocardial infarction29.1ACE, AGT, AGTR1, REN, TGFB1
3frontometaphyseal dysplasia11.5
4otopalatodigital syndrome, type i11.0
5coronary artery dissection, spontaneous11.0
6otopalatodigital syndrome, type ii10.9
7melnick-needles syndrome10.9
8facioscapulohumeral muscular dystrophy 110.8
9aneurysm10.6
10pediatric ulcerative colitis10.5ACE, AGT
11fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex i deficiency10.4ACE, TGFB1
12hypotelorism cleft palate hypospadias10.4ACE, REN
13familial hypopituitarism10.4AGT, AGTR1
14cystic kidney disease10.4ACE, REN
15congenital methemoglobinemia10.4AGTR1, TGFB1
16hypodermyasis10.4ACE, REN
17burns10.3ACE, TGFB1
18atrial septal defect 7, with or without av conduction defects10.3ACE, REN
19podder-tolmie syndrome10.3AGT, AGTR1
20vulvar leiomyosarcoma10.3PGR, REN
21pleomorphic carcinoma10.3PGR, SERPINA1
22degenerative myopia10.3ACE, REN
23renovascular hypertension10.3
24voyeurism10.3ACE, REN
25casr-related disorders10.3ACE, AGT, AGTR1
26aortic valves stenosis of the child10.2ACE, AGT, AGTR1
27benign hypertensive renal disease10.2ACE, AGT, AGTR1
28renal hypertension10.2MYLK, TGFB1
29joint disorders10.2ACE, AGT, AGTR1
30herpetic gastritis10.2ACE, AGT, AGTR1
31cerebritis10.2
32small intestinal sarcoma10.2PGR, SERPINA1
33perineocele10.2ACE, AGT
34hypopigmentation of eyelid10.2ACE, AGTR1, TGFB1
35discitis10.2ACE, AGTR1, TGFB1
36laryngeal tuberculosis10.2ACE, SERPINA1, TGFB1
37kidney hypertrophy10.2ACE, AGTR1, TGFB1
38mental depression10.2ACE, REN
39fundus dystrophy10.2ACE, SERPINA1, TGFB1
40broad ligament malignant neoplasm10.1ACE, AGTR1, REN
41hypoaldosteronism, congenital, due to cmo ii deficiency10.1AGT, REN
42adenocarcinoma10.1ACE, AGTR1, REN
43plica syndrome10.1ACE, AGT, REN
44cystinosis10.1ACE, AGT, REN
45arteriovenous fistula10.1
46intracranial aneurysm10.1
47retinitis10.1
48craniosynostosis10.1ACE, AGTR1, REN
49benign neonatal seizures10.1ACE, REN, TGFB1
50ischemia10.0

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



Diseases related to fibromuscular dysplasia

Symptoms for Fibromuscular Dysplasia

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Human phenotypes related to Fibromuscular Dysplasia:

 63 (show all 6)
id Description HPO Frequency HPO Source Accession
1 stroke63 HP:0001297
2 myocardial infarction63 HP:0001658
3 aortic dissection63 HP:0002647
4 intermittent claudication63 HP:0004417
5 arterial fibromuscular dysplasia63 HP:0005313
6 renovascular hypertension63 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
1Antihypertensive Agents4095
2Anticholesteremic Agents1983
3Angiotensin-Converting Enzyme Inhibitors711
4Angiotensin Receptor Antagonists1173

Interventional clinical trials:

(show all 11)
idNameStatusNCT IDPhase
1Gadobutrol Enhanced MRA of the Renal ArteriesCompletedNCT01344460Phase 3
2Pathophysiological Mechanisms of Fibromuscular DysplasiaCompletedNCT01935752
3Cross-sectional Study of Patients With Renal or Craniocervical Fibromuscular DysplasiaCompletedNCT02884141
4CAUSE Trial: Patient Specific-Cellular Characterization of Fibromuscular Dysplasia and High-Risk Atherosclerotic EndotheliumCompletedNCT01808729
5Renal Arteries Dysplastic Aneurysms: Anatomopathological and Genetic StudyCompletedNCT02528149
6Defining the Basis of Fibromuscular Dysplasia (FMD)RecruitingNCT01967511
7Assessment of Renal Artery Fibromuscular Dysplasia: From Diagnosis to TreatmentRecruitingNCT02586870
8The Study of the Prevalence Fibromuscular Dysplasia in Patient With Haematoma or Spontaneous Coronary Artery Dissection.RecruitingNCT02799186
9A Prospective Danish National Registry of PTRA in Patients With Renovascular HypertensionRecruitingNCT02770066
10Prevalence and Long-term Impact of Non-atherosclerotic CADRecruitingNCT01479140
11Cohort Follow-up of Patients With Renal or Craniocervical Fibromuscular DysplasiaActive, not recruitingNCT02961868

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:

35
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:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.4AGT, MYLK, OBSCN, PGR, REN, TGFB1
2MP:00053877.9ACE, AGT, AGTR1, FLNA, MYLK, PGR
3MP:00053867.6ACE, AGT, AGTR1, FLNA, MYLK, PGR
4MP:00053767.6ACE, AGT, AGTR1, FLNA, MYLK, PGR
5MP:00053787.3ACE, AGT, AGTR1, DYNC2H1, FLNA, MYLK
6MP:00053677.0ACE, AGT, AGTR1, DYNC2H1, MYLK, REN
7MP:00107686.7ACE, AGT, AGTR1, CDIPT, DYNC2H1, FLNA
8MP:00053856.5ACE, AGT, AGTR1, CDIPT, DYNC2H1, FLNA

Publications for Fibromuscular Dysplasia

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Articles related to Fibromuscular Dysplasia:

(show top 50)    (show all 587)
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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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)SNVPathogenicrs28935471GRCh37Chr X, 153588687: 153588687
2FLNANM_001110556.1(FLNA): c.3557C> T (p.Ser1186Leu)SNVPathogenicrs137853312GRCh37Chr 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
1extracellular regionGO:00055767.9ACE, AGT, FLNA, REN, SERPINA1, TGFB1

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

(show all 25)
idNameGO IDScoreTop Affiliating Genes
1regulation of renal output by angiotensinGO:000201910.5ACE, AGT
2regulation of systemic arterial blood pressure by renin-angiotensinGO:000308110.4ACE, AGTR1
3regulation of vasodilationGO:004231210.4ACE, AGTR1
4positive regulation of cholesterol esterificationGO:001087310.3AGT, AGTR1
5mononuclear cell proliferationGO:003294310.3ACE, TGFB1
6positive regulation of branching involved in ureteric bud morphogenesisGO:009019010.2AGT, TGFB1
7positive regulation of reactive oxygen species metabolic processGO:200037910.1AGT, AGTR1
8low-density lipoprotein particle remodelingGO:003437410.1AGT, AGTR1
9regulation of renal sodium excretionGO:003581310.1AGT, AGTR1
10positive regulation of macrophage derived foam cell differentiationGO:001074410.0AGT, AGTR1
11positive regulation of NAD(P)H oxidase activityGO:003386410.0AGT, AGTR1
12positive regulation of superoxide anion generationGO:003293010.0AGT, TGFB1
13beta-amyloid metabolic processGO:00504359.9ACE, REN
14regulation of vasoconstrictionGO:00192299.9ACE, AGT, AGTR1
15platelet degranulationGO:00025769.8FLNA, SERPINA1, TGFB1
16blood vessel remodelingGO:00019749.8ACE, AGT
17positive regulation of cellular protein metabolic processGO:00322709.6AGT, AGTR1, TGFB1
18positive regulation of protein tyrosine kinase activityGO:00610989.5ACE, AGT
19renin-angiotensin regulation of aldosterone productionGO:00020189.5AGT, AGTR1, REN
20negative regulation of gene expressionGO:00106299.4ACE, PGR, TGFB1
21response to immobilization stressGO:00359029.3REN, TGFB1
22angiotensin maturationGO:00020039.3ACE, AGT, REN
23regulation of blood volume by renin-angiotensinGO:00020169.2AGT, REN
24regulation of blood pressureGO:00082179.0ACE, AGT, REN
25kidney developmentGO:00018228.8ACE, AGT, AGTR1, REN

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

idNameGO IDScoreTop Affiliating Genes
1bradykinin receptor bindingGO:003171110.3ACE, AGTR1
2glycoprotein bindingGO:00019489.4FLNA, SERPINA1, TGFB1

Sources for Fibromuscular Dysplasia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet