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 48 49 50 68
Muscular Dystrophy, Facioscapulohumeral 68
Fibromuscular Dysplasia of Arteries 48
 
Frontometaphyseal Dysplasia 68
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 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.

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 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 & 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: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

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:

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 587)
idTitleAuthorsYear
1
Fibromuscular Dysplasia of the Brachial Artery. (28076713)
2017
2
Pathophysiological differences between multifocal fibromuscular dysplasia and atherosclerotic renal artery stenosis. (28060190)
2017
3
Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease. (27939641)
2017
4
Internal Carotid Artery Fibromuscular Dysplasia in a Child: Incidental Postmortem Finding after Head Injury. (28042220)
2017
5
Unusual lamellar calcifications in two rare cases of splenic aneurysms associated with fibromuscular dysplasia. (27031177)
2016
6
The Diagnosis and Treatment of Fibromuscular Dysplasia: An Update for Cardiologists. (27029382)
2016
7
My Life With Fibromuscular Dysplasia: A Sword of Damocles. (27601456)
2016
8
Fibromuscular Dysplasia: Looking Beyond the "String of Beads". (27665162)
2016
9
Differences between the pediatric and adult presentation of fibromuscular dysplasia: results from the US Registry. (26525198)
2016
10
Fibromuscular dysplasia: Advances in understanding and management. (27861117)
2016
11
Lower Extremity Fibromuscular Dysplasia. (28006960)
2016
12
OS 04-02 HIGH PREVALENCE OF MULTISITE FIBROMUSCULAR DYSPLASIA: THE ARCADIA REGISTRY. (27643303)
2016
13
Fibromuscular Dysplasia Complicated With Cerebral Stroke in a Child With Congenital Dyserythropoietic Anemia Type II. (27548341)
2016
14
Spontaneous obliteration of spontaneous vertebral arteriovenous fistula associated with fibromuscular dysplasia after partial surgery: A case report. (27481913)
2016
15
People Have the Power: Fibromuscular Dysplasia Complications. (27386772)
2016
16
Multimodality imaging of fibromuscular dysplasia. (27216744)
2016
17
A case of treatable hypertension: fibromuscular dysplasia of renal arteries. (26724918)
2016
18
Revisiting Fibromuscular Dysplasia: Rationale of the European Fibromuscular Dysplasia Initiative. (27504007)
2016
19
Smoking and AdverseA Outcomes in Fibromuscular Dysplasia: U.S. Registry Report. (27056782)
2016
20
Acute renal infarction resulting from fibromuscular dysplasia: a case report. (27159998)
2016
21
Subarachnoid haemorrhage due to aneurysmal rupture secondary to fibromuscular dysplasia. (27773191)
2016
22
A New Plausible Link between Lysophosphatidylcholine, TGFI^, and Fibromuscular Dysplasia. (27009435)
2016
23
Internal Carotid Artery S-Shaped Curve as a Marker of Fibromuscular Dysplasia in Dissection-Related Acute Ischemic Stroke. (27781048)
2016
24
Clinical Commentary on "My Life With Fibromuscular Dysplasia: A Sword of Damocles". (27650351)
2016
25
Dissection and Aneurysm in Patients WithA Fibromuscular Dysplasia: Findings From the U.S. Registry for FMD. (27386771)
2016
26
Renal Artery Stenosis in a Young Female without Fibromuscular Dysplasia with Literature Review. (27398034)
2016
27
OP.1C.04] STRUCTURAL AND FUNCTIONAL ARTERIAL ABNORMALITIES IN FIBROMUSCULAR DYSPLASIA ARE IN THE CONTINUUM OF HYPERTENSION: AN IMAGING AND BIOMECHANICAL STUDY. (27508805)
2016
28
Diagnosed and living with fibromuscular dysplasia: A qualitative inquiry. (27758900)
2016
29
A case of posterior reversible leukoencephalopathy syndrome caused by fibromuscular dysplasia. (27580765)
2016
30
Restenosis of renal artery fibromuscular dysplasia after percutaneous angioplasty. (27681247)
2016
31
Cutting Balloon Angioplasty (CBA) for the Treatment of Renal Artery Fibromuscular Dysplasia (FMD) in Six Patients: 5-Year Long-Term Results. (28035431)
2016
32
Horner syndrome in fibromuscular dysplasia without carotid dissection. (27085276)
2016
33
Epidemiology of fibromuscular dysplasia: A review of the literature. (27067138)
2016
34
Poster 63 Vertebral Artery Dissection Resulting in Cerebellar CVA after Chiropractic Manipulation in a Patient with Fibromuscular Dysplasia. (27672829)
2016
35
Endovascular Treatment of Renal Artery Stenosis due to Fibromuscular Dysplasia - Is Stent Implantation Underused in this Circumstance? (27512536)
2016
36
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
37
Mesenteric Arteriovenous Dysplasia/Vasculopathy Is Distinct From Fibromuscular Dysplasia. (27487739)
2016
38
Angiographic and Intracoronary Manifestations of Coronary Fibromuscular Dysplasia. (26957531)
2016
39
Renal hemodynamics and renin-angiotensin system activity in humans with multifocal renal artery fibromuscular dysplasia. (27032075)
2016
40
Forty-two-year-old female patient with resistant hypertension, bilateral renal fibromuscular dysplasia and intracranial aneurysm. (27980558)
2016
41
Visceral fibromuscular dysplasia in a patient with chronic abdominal pain. (26675330)
2016
42
OS 04-02 HIGH PREVALENCE OF MULTISITE FIBROMUSCULAR DYSPLASIA: THE ARCADIA REGISTRY. (27753918)
2016
43
PHACTR1 Is a Genetic Susceptibility Locus for Fibromuscular Dysplasia Supporting Its Complex Genetic Pattern of Inheritance. (27792790)
2016
44
Resistant Hypertension due to Fibromuscular Dysplasia in a Young Male: A Rare Case Report. (27504335)
2016
45
Renal Fibromuscular Dysplasia: A Not So Common Entity of Secondary Hypertension. (26970300)
2016
46
Clinical characteristics and treatment of renal artery fibromuscular dysplasia with percutaneous transluminal angioplasty: a long-term follow-up study. (27270759)
2016
47
Spontaneous hepatic artery dissection-a rare presentation of fibromuscular dysplasia. (28031848)
2016
48
Fibromuscular Dysplasia Presented WithA Spontaneous Dissection of the LeftA Main Artery. (27884363)
2016
49
Age-related fibromuscular dysplasia in the human left ventricle papillary muscles arteries. (27041095)
2016
50
Segmental arterial mediolysis and fibromuscular dysplasia: what comes first, the chicken or the egg? (26764144)
2016

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
1blood vessel remodelingGO:000197410.5ACE, AGT
2mononuclear cell proliferationGO:003294310.4ACE, TGFB1
3positive regulation of protein tyrosine kinase activityGO:006109810.4ACE, AGT
4low-density lipoprotein particle remodelingGO:003437410.4AGT, AGTR1
5regulation of systemic arterial blood pressure by renin-angiotensinGO:000308110.3ACE, AGTR1
6positive regulation of cholesterol esterificationGO:001087310.3AGT, AGTR1
7positive regulation of macrophage derived foam cell differentiationGO:001074410.3AGT, AGTR1
8positive regulation of NAD(P)H oxidase activityGO:003386410.3AGT, AGTR1
9regulation of renal output by angiotensinGO:000201910.3ACE, AGT
10positive regulation of reactive oxygen species metabolic processGO:200037910.3AGT, AGTR1
11positive regulation of branching involved in ureteric bud morphogenesisGO:009019010.2AGT, TGFB1
12regulation of vasodilationGO:004231210.2ACE, AGTR1
13regulation of renal sodium excretionGO:003581310.2AGT, AGTR1
14positive regulation of superoxide anion generationGO:003293010.2AGT, TGFB1
15negative regulation of gene expressionGO:001062910.1ACE, PGR, TGFB1
16beta-amyloid metabolic processGO:005043510.0ACE, REN
17platelet degranulationGO:000257610.0FLNA, SERPINA1, TGFB1
18regulation of vasoconstrictionGO:00192299.8ACE, AGT, AGTR1
19positive regulation of cellular protein metabolic processGO:00322709.8AGT, AGTR1, TGFB1
20regulation of blood volume by renin-angiotensinGO:00020169.7AGT, REN
21angiotensin maturationGO:00020039.6ACE, AGT, REN
22regulation of blood pressureGO:00082179.5ACE, AGT, REN
23kidney developmentGO:00018229.2ACE, AGT, AGTR1, REN
24renin-angiotensin regulation of aldosterone productionGO:00020189.2AGT, AGTR1, REN
25response to immobilization stressGO:00359029.2REN, TGFB1

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