FMD
MCID: FBR032
MIFTS: 43

Fibromuscular Dysplasia (FMD) malady

Category: Rare diseases

Aliases & Classifications for Fibromuscular Dysplasia

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Aliases & Descriptions for Fibromuscular Dysplasia:

Name: Fibromuscular Dysplasia 48 49 50 68
Fibromuscular Dysplasia of Arteries 48
 
Fmd 48

Characteristics:


Classifications:



Summaries for Fibromuscular Dysplasia

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NINDS:49 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 myocardial infarction and frontometaphyseal dysplasia, 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 Hypothesized Pathways in Pathogenesis of Cardiovascular Disease 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:48 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:71 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 112)
idRelated DiseaseScoreTop Affiliating Genes
1myocardial infarction29.3ACE, AGT, AGTR1, PHACTR1, REN, TGFB1
2frontometaphyseal dysplasia11.6
3otopalatodigital syndrome, type i11.0
4coronary artery dissection, spontaneous11.0
5otopalatodigital syndrome, type ii10.9
6melnick-needles syndrome10.9
7facioscapulohumeral muscular dystrophy 110.8
8aneurysm10.6
9penile cancer, childhood10.3ACE, AGT
10renovascular hypertension10.3
11cerebritis10.2
12idiopathic panuveitis10.2ACE, TGFB1
13hypotrichosis simplex10.2ACE, REN
14hyperinsulinemic hypoglycemia, familial, 310.2ACE, REN
15carbohydrate metabolic disorder10.2ACE, REN
16hypertrichosis of eyelid10.2ACE, AGTR1, TGFB1
17hypothyroidism, congenital nongoitrous, 510.2ACE, REN
18pars planitis10.2ACE, RNF213
19acute chest syndrome10.2ACE, SERPINA1, TGFB1
20eye degenerative disease10.1ACE, AGT, AGTR1
21hypogonadism mitral valve prolapse mental retardation10.1ACE, REN
22cetp-related hyperalphalipoproteinemia10.1ACE, AGT, AGTR1
23aplasia cutis congenita recessive10.1ACE, AGT, AGTR1
24laryngostenosis10.1ACE, AGT, AGTR1
25listeriosis10.1ACE, REN
26dientamoebiasis10.1ACE, REN
27cerebral convexity meningioma10.1ACE, AGT, AGTR1
28pulmonary valve insufficiency10.1ACE, REN, TGFB1
29schizotypal personality disorder10.1ACE, AGT, REN
30petrositis10.1ACE, AGTR1, REN
31lymphadenitis10.1ACE, AGTR1, REN
32congenital nystagmus10.1ACE, REN
33preaxial polydactyly of fingers10.1ACE, AGT, AGTR1, TGFB1
34agammaglobulinemia 610.1ACE, AGT, AGTR1, TGFB1
35systolic heart failure10.1ACE, AGT, AGTR1, TGFB1
36arteriovenous fistula10.1
37intracranial aneurysm10.1
38retinitis10.1
39clear cell adenocarcinoma10.1ACE, AGTR1, REN
40ceroid lipofuscinosis, neuronal, kufs type, adult onset10.1ACE, AGT, REN
41familial nephrotic syndrome10.1ACE, AGT, AGTR1, TGFB1
42hemorrhagic cystitis10.0AGTR1, REN, TGFB1
43ischemia10.0
44chronic myocardial ischemia10.0ACE, AGT, REN
45familial nasal acilia10.0AGT, AGTR1, REN
46cervix small cell carcinoma10.0ACE, AGTR1, REN
47heart valve disease10.0ACE, AGTR1, TGFB1
48mixed germ cell-sex cord neoplasm10.0ACE, AGTR1, REN, TGFB1
49calcinosis10.0ACE, AGTR1, REN, TGFB1
50cervicitis10.0

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



Diseases related to fibromuscular dysplasia

Symptoms & Phenotypes for Fibromuscular Dysplasia

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Human phenotypes related to Fibromuscular Dysplasia:

 64 (show all 6)
id Description HPO Frequency HPO Source Accession
1 stroke64 HP:0001297
2 myocardial infarction64 HP:0001658
3 aortic dissection64 HP:0002647
4 intermittent claudication64 HP:0004417
5 arterial fibromuscular dysplasia64 HP:0005313
6 renovascular hypertension64 HP:0100817

MGI Mouse Phenotypes related to Fibromuscular Dysplasia according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053868.2ACE, AGT, AGTR1, FLNA, MYLK, PGR
2MP:00053678.1ACE, AGT, AGTR1, DYNC2H1, MYLK, REN
3MP:00107687.2ACE, AGT, AGTR1, CDIPT, DYNC2H1, FLNA
4MP:00053857.0ACE, AGT, AGTR1, CDIPT, DYNC2H1, FLNA

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 Agents4207
2Anticholesteremic Agents2025
3Angiotensin-Converting Enzyme Inhibitors724
4Angiotensin Receptor Antagonists1191

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:

36
Brain, Kidney, Bone, Skin, Testes, Breast, Lung

Publications for Fibromuscular Dysplasia

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Articles related to Fibromuscular Dysplasia:

(show top 50)    (show all 588)
idTitleAuthorsYear
1
Internal Carotid Artery Fibromuscular Dysplasia in a Child: Incidental Postmortem Finding after Head Injury. (28042220)
2017
2
Pathophysiological differences between multifocal fibromuscular dysplasia and atherosclerotic renal artery stenosis. (28060190)
2017
3
Fibromuscular Dysplasia of the Brachial Artery. (28076713)
2017
4
Rapid contralateral progression of focal cerebral arteriopathy distinguished from RNF213-related moyamoya disease and fibromuscular dysplasia. (28497183)
2017
5
Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease. (27939641)
2017
6
OP.5A.04] EVALUATION OF RETINAL MICROPERFUSION AND ARTERIOLAR STRUCTURE IN PATIENTS WITH FIBROMUSCULAR DYSPLASIA. THE PRELIMINARY DATA OF THE POLISH REGISTRY FOR FIBROMUSCULAR DYSPLASIA. (27508731)
2016
7
Multimodality imaging of fibromuscular dysplasia. (27216744)
2016
8
Spontaneous hepatic artery dissection-a rare presentation of fibromuscular dysplasia. (28031848)
2016
9
Acute renal infarction resulting from fibromuscular dysplasia: a case report. (27159998)
2016
10
Differences between the pediatric and adult presentation of fibromuscular dysplasia: results from the US Registry. (26525198)
2016
11
Endovascular Treatment of Renal Artery Stenosis due to Fibromuscular Dysplasia - Is Stent Implantation Underused in this Circumstance? (27512536)
2016
12
Screening CT Angiography of the Aorta, Visceral BranchA Vessels, and Pelvic Arteries in Fibromuscular Dysplasia. (27665159)
2016
13
Fibromuscular Dysplasia Presented WithA Spontaneous Dissection of the LeftA Main Artery. (27884363)
2016
14
Segmental arterial mediolysis and fibromuscular dysplasia: what comes first, the chicken or the egg? (26764144)
2016
15
Horner syndrome in fibromuscular dysplasia without carotid dissection. (27085276)
2016
16
Poster 63 Vertebral Artery Dissection Resulting in Cerebellar CVA after Chiropractic Manipulation in a Patient with Fibromuscular Dysplasia. (27672829)
2016
17
Age-related fibromuscular dysplasia in the human left ventricle papillary muscles arteries. (27041095)
2016
18
Forty-two-year-old female patient with resistant hypertension, bilateral renal fibromuscular dysplasia and intracranial aneurysm. (27980558)
2016
19
Angiographic and Intracoronary Manifestations of Coronary Fibromuscular Dysplasia. (26957531)
2016
20
Visceral fibromuscular dysplasia in a patient with chronic abdominal pain. (26675330)
2016
21
Cutting Balloon Angioplasty (CBA) for the Treatment of Renal Artery Fibromuscular Dysplasia (FMD) in Six Patients: 5-Year Long-Term Results. (28035431)
2016
22
Clinical characteristics and treatment of renal artery fibromuscular dysplasia with percutaneous transluminal angioplasty: a long-term follow-up study. (27270759)
2016
23
The Diagnosis and Treatment of Fibromuscular Dysplasia: An Update for Cardiologists. (27029382)
2016
24
Resistant Hypertension due to Fibromuscular Dysplasia in a Young Male: A Rare Case Report. (27504335)
2016
25
Epidemiology of fibromuscular dysplasia: A review of the literature. (27067138)
2016
26
Fibromuscular Dysplasia Complicated With Cerebral Stroke in a Child With Congenital Dyserythropoietic Anemia Type II. (27548341)
2016
27
People Have the Power: Fibromuscular Dysplasia Complications. (27386772)
2016
28
Spontaneous obliteration of spontaneous vertebral arteriovenous fistula associated with fibromuscular dysplasia after partial surgery: A case report. (27481913)
2016
29
OS 04-02 HIGH PREVALENCE OF MULTISITE FIBROMUSCULAR DYSPLASIA: THE ARCADIA REGISTRY. (27643303)
2016
30
Unusual lamellar calcifications in two rare cases of splenic aneurysms associated with fibromuscular dysplasia. (27031177)
2016
31
PHACTR1 Is a Genetic Susceptibility Locus for Fibromuscular Dysplasia Supporting Its Complex Genetic Pattern of Inheritance. (27792790)
2016
32
My Life With Fibromuscular Dysplasia: A Sword of Damocles. (27601456)
2016
33
OP.1C.04] STRUCTURAL AND FUNCTIONAL ARTERIAL ABNORMALITIES IN FIBROMUSCULAR DYSPLASIA ARE IN THE CONTINUUM OF HYPERTENSION: AN IMAGING AND BIOMECHANICAL STUDY. (27508805)
2016
34
Lower Extremity Fibromuscular Dysplasia. (28006960)
2016
35
Fibromuscular dysplasia: Advances in understanding and management. (27861117)
2016
36
OP.1C.05] THE POLISH REGISTRY FOR FIBROMUSCULAR DYSPLASIA - THE PRELIMINARY REPORT ON DISTRIBUTION OF VASCULAR BED INVOLVEMENT AND COMPLICATIONS IN PATIENTS ENROLLED IN ARCADIA-POL STUDY. (27508830)
2016
37
A case of posterior reversible leukoencephalopathy syndrome caused by fibromuscular dysplasia. (27580765)
2016
38
Diagnosed and living with fibromuscular dysplasia: A qualitative inquiry. (27758900)
2016
39
Subarachnoid haemorrhage due to aneurysmal rupture secondary to fibromuscular dysplasia. (27773191)
2016
40
Mesenteric Arteriovenous Dysplasia/Vasculopathy Is Distinct From Fibromuscular Dysplasia. (27487739)
2016
41
Clinical Commentary on "My Life With Fibromuscular Dysplasia: A Sword of Damocles". (27650351)
2016
42
Restenosis of renal artery fibromuscular dysplasia after percutaneous angioplasty. (27681247)
2016
43
Renal Artery Stenosis in a Young Female without Fibromuscular Dysplasia with Literature Review. (27398034)
2016
44
A case of treatable hypertension: fibromuscular dysplasia of renal arteries. (26724918)
2016
45
Dissection and Aneurysm in Patients WithA Fibromuscular Dysplasia: Findings From the U.S. Registry for FMD. (27386771)
2016
46
Renal Fibromuscular Dysplasia: A Not So Common Entity of Secondary Hypertension. (26970300)
2016
47
A New Plausible Link between Lysophosphatidylcholine, TGFI^, and Fibromuscular Dysplasia. (27009435)
2016
48
Revisiting Fibromuscular Dysplasia: Rationale of the European Fibromuscular Dysplasia Initiative. (27504007)
2016
49
Fibromuscular Dysplasia: Looking Beyond the "String of Beads". (27665162)
2016
50
Renal hemodynamics and renin-angiotensin system activity in humans with multifocal renal artery fibromuscular dysplasia. (27032075)
2016

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

idNameGO IDScoreTop Affiliating Genes
1cytoplasmGO:00057376.0ACE, AGT, DYNC2H1, FLNA, MYLK, OBSCN

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

(show all 23)
idNameGO IDScoreTop Affiliating Genes
1mononuclear cell proliferationGO:003294310.6ACE, TGFB1
2positive regulation of branching involved in ureteric bud morphogenesisGO:009019010.5AGT, TGFB1
3positive regulation of superoxide anion generationGO:003293010.5AGT, TGFB1
4beta-amyloid metabolic processGO:005043510.4ACE, REN
5regulation of renal output by angiotensinGO:000201910.4ACE, AGT
6low-density lipoprotein particle remodelingGO:003437410.4AGT, AGTR1
7regulation of blood vessel diameterGO:009774610.4ACE, AGTR1
8positive regulation of cholesterol esterificationGO:001087310.3AGT, AGTR1
9positive regulation of macrophage derived foam cell differentiationGO:001074410.3AGT, AGTR1
10positive regulation of NAD(P)H oxidase activityGO:003386410.3AGT, AGTR1
11regulation of blood vessel diameter by renin-angiotensinGO:000203410.3AGT, AGTR1
12regulation of vasodilationGO:004231210.3ACE, AGTR1
13regulation of renal sodium excretionGO:003581310.2AGT, AGTR1
14regulation of blood volume by renin-angiotensinGO:000201610.2AGT, REN
15positive regulation of cellular protein metabolic processGO:003227010.1AGT, AGTR1, TGFB1
16angiotensin maturationGO:000200310.1ACE, AGT, REN
17platelet degranulationGO:000257610.0FLNA, SERPINA1, TGFB1
18regulation of systemic arterial blood pressure by renin-angiotensinGO:000308110.0ACE, AGT, AGTR1
19regulation of vasoconstrictionGO:001922910.0ACE, AGT, AGTR1
20regulation of blood pressureGO:000821710.0ACE, AGT, REN
21response to immobilization stressGO:00359029.8REN, TGFB1
22kidney developmentGO:00018229.7ACE, AGT, AGTR1, REN
23renin-angiotensin regulation of aldosterone productionGO:00020189.7AGT, 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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet