MCID: FBR032
MIFTS: 53

Fibromuscular Dysplasia malady

Rare diseases, Cardiovascular diseases, Nephrological diseases, Muscle diseases categories

Aliases & Classifications for Fibromuscular Dysplasia

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Sources:
41NIH Rare Diseases, 42NINDS, 43Novoseek, 47Orphanet, 60UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Fibromuscular Dysplasia, Aliases & Descriptions:

Name: Fibromuscular Dysplasia 41 42 43 60
Fibromuscular Dysplasia of Arteries 41 47 60
Muscular Dystrophy, Facioscapulohumeral 60
 
Frontometaphyseal Dysplasia 60
Fmd 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
fibromuscular dysplasia of arteries:
Age of onset: Adolescent,Adult,Childhood; Age of death: normal life expectancy


External Ids:

Orphanet47 336
MESH via Orphanet34 C537929, D005352
ICD10 via Orphanet26 I77.3
UMLS via Orphanet61 C0016052, C1851111

Summaries for Fibromuscular Dysplasia

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NINDS:42 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 retinal artery occlusion and renovascular hypertension, and has symptoms including autosomal dominant inheritance, stroke and myocardial infarction. An important gene associated with Fibromuscular Dysplasia is FLNA (filamin A, alpha), and among its related pathways are Selected targets of HNF1 and Peptide hormone metabolism. The compounds remikiren and enalaprilat have been mentioned in the context of this disorder. Affiliated tissues include brain, kidney and bone, and related mouse phenotypes are behavior/neurological and renal/urinary system.

NIH Rare Diseases:41 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:63 Fibromuscular dysplasia, often abbreviated as FMD, is a non-atherosclerotic, non-inflammatory disease of... 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 119)
idRelated DiseaseScoreTop Affiliating Genes
1retinal artery occlusion31.0APOH
2renovascular hypertension30.8REN, ACE, AGTR1
3vasculitis30.7SERPINA1, APOH
4malignant hypertension30.4ACE, REN
5hypokalemia30.2ACE, REN
6myocardial infarction30.1ACE, AGT, AGTR1, REN
7acute myocardial infarction29.5AGTR1, AGT, ACE, SERPINA1
8proteinuria29.4REN, AGT, AGTR1, ACE, APOH
9aneurysm11.0
10cerebritis10.6
11hypoaldosteronism10.5REN
12portal hypertension10.5REN
13hepatorenal syndrome10.5REN
14granular cell tumor10.5DES
15congestive heart failure10.4REN
16arteriovenous fistula10.4
17intracranial aneurysm10.4
18ischemia10.4
19mouth disease10.4
20carotid artery dissection10.4
21cervicitis10.4
22retinitis10.4
23spontaneous coronary artery dissection10.4
24orthostatic intolerance10.4AGTR1
25pulmonary hypertension10.3
26cerebral aneurysms10.3
27gitelman syndrome10.2REN, AGT
28hepatitis10.2
29intermittent claudication10.2
30antiphospholipid syndrome10.2
31neurofibromatosis10.2
32hypertrophic cardiomyopathy10.2
33central retinal artery occlusion10.2
34aortic aneurysm10.2
35aortic coarctation10.2
36macrophagic myofasciitis10.2
37oligohydramnios10.2ACE
38systemic scleroderma10.2ACE
39emphysema due to aat deficiency10.2SERPINA1, CDIPT
40conn's syndrome10.2REN, AGTR1
41otopalatodigital syndrome, type i10.2
42otopalatodigital syndrome, type ii10.2
43melnick-needles syndrome10.2
44malignant fibroxanthoma10.2DES, SERPINA1
45hypertension, diastolic10.1ACE, REN
46raynaud disease10.1AGTR1, APOH
47renal hypertension10.1ACE, REN
48pure autonomic failure10.1ACE, REN
49tetralogy of fallot10.1
50ehlers-danlos syndrome, type iv10.1

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 7)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 stroke HP:0001297
3 myocardial infarction HP:0001658
4 aortic dissection HP:0002647
5 intermittent claudication HP:0004417
6 arterial fibromuscular dysplasia HP:0005313
7 renovascular hypertension HP:0100817

Drugs & Therapeutics for Fibromuscular Dysplasia

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Drug clinical trials:

Search ClinicalTrials for Fibromuscular Dysplasia

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:

31
Brain, Kidney, Bone, Heart, Smooth muscle, Lung, Breast, Skin, Testes

Animal Models for Fibromuscular Dysplasia or affiliated genes

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MGI Mouse Phenotypes related to Fibromuscular Dysplasia:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053868.1AGT, ACE, REN, FLNA, DES
2MP:00053677.9REN, ACE, AGT, AGTR1
3MP:00053857.5DES, FLNA, REN, ACE, AGT, AGTR1
4MP:00053767.1AGTR1, DES, APOH, FLNA, REN, ACE
5MP:00107687.0DES, APOH, FLNA, REN, ACE, AGT

Publications for Fibromuscular Dysplasia

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Articles related to Fibromuscular Dysplasia:

(show top 50)    (show all 525)
idTitleAuthorsYear
1
Fibromuscular dysplasia and coronary heart disease. (25767043)
2015
2
Renal artery stent fracture in patients with fibromuscular dysplasia: a cautionary tale. (23780296)
2013
3
Coronary vasospasm attributable to fibromuscular dysplasia: the long bridge to transplant. (23694776)
2013
4
Renal artery fibromuscular dysplasia in 2,640 renal donor subjects: a CT angiography analysis. (23911200)
2013
5
Acute aortic dissection and stroke in multivessel fibromuscular dysplasia. (23467036)
2013
6
Renal angioplasty for treatment of hypertensive patients with fibromuscular dysplasia. No country for old men. (23636016)
2013
7
Fibromuscular dysplasia-related aneurysms: one-year follow-up after treatment with a flow-diverting stent. (23707102)
2013
8
Diagnosis and management of fibromuscular dysplasia: an expert consensus. (21854373)
2012
9
Fibromuscular dysplasia. (22566353)
2012
10
Images in vascular medicine. A ruptured intracranial aneurysm with underlying cervicocranial fibromuscular dysplasia. (22006367)
2012
11
Low yield of genetic testing for known vascular connective tissue disorders in patients with fibromuscular dysplasia. (23064905)
2012
12
Fibromuscular dysplasia: a differential diagnosis of vasculitis. (22286647)
2012
13
Macroaneurysm in a renal fibromuscular dysplasia. (21343596)
2011
14
Carotid and vertebral arterial fibromuscular dysplasia masquerading as severe preeclampsia: a case report. (21902099)
2011
15
Diagnosing and treating atypical arterial pathologies of aortic arch vessels: dissection and fibromuscular dysplasia. (21718931)
2011
16
Ischemic stroke because of intracranial fibromuscular dysplasia. (21310338)
2011
17
Renal transplantation for fibromuscular dysplasia. (21446982)
2011
18
Case report and review: epicardial coronary artery fibromuscular dysplasia. (18242135)
2009
19
The long-term outcomes of percutaneous therapy for renal artery fibromuscular dysplasia. (18692345)
2008
20
An uncommon variant of fibromuscular dysplasia. (18190503)
2008
21
Fibromuscular dysplasia: noninvasive evaluation of unusual case of renal and mesenteric involvement. (18313108)
2008
22
Fibromuscular dysplasia of renal arteries. (18070585)
2007
23
Symptoms of a stroke in a 41-year-old woman. Fibromuscular dysplasia (FMD). (17601222)
2007
24
Fibromuscular dysplasia recurrence after kidney transplantation: case report. (16878439)
2006
25
Renal fibromuscular dysplasia in elderly persons. (15806462)
2005
26
Fatal mesenteric fibromuscular dysplasia: a case report and review of the literature. (15159274)
2004
27
Surgery too drastic to treat fibromuscular dysplasia in an elderly patient. (12912758)
2003
28
Incidence of donor renal fibromuscular dysplasia: does it justify routine angiography? (11965042)
2002
29
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
30
Treatment of renal artery fibromuscular dysplasia with balloon angioplasty: a prospective follow-up study. (11863332)
2002
31
Coexistence of hypertrophic cardiomyopathy and fibromuscular dysplasia of the superior mesenteric artery. (11336027)
2001
32
Stroke in a young man with fibromuscular dysplasia of the cranial vessels with anticardiolipin antibodies: a case report. (11487190)
2001
33
Childhood subarachnoid hemorrhage associated with fibromuscular dysplasia. (11465797)
2001
34
An unusual type of combined aortic coarctation due to fibromuscular dysplasia. (10386705)
1999
35
A case of sudden death caused by fibromuscular dysplasia. (10605412)
1999
36
Prevalence of cerebral aneurysms in patients with fibromuscular dysplasia: a reassessment. (9488296)
1998
37
Fibromuscular Dysplasia of the Aorta Presenting as Multiple Recurrent Thoracic Aneurysms (9585453)
1998
38
Posttraumatic bilateral carotid artery and right vertebral artery dissections in a patient with fibromuscular dysplasia: case report and review of the literature. (9498524)
1998
39
Fibromuscular dysplasia of the brachial artery: an endovascular approach. (7856978)
1995
40
Successful renal autotransplantation for renal failure with prolonged oliguria in a Jehovah's Witness with fibromuscular dysplasia of the renal arteries. (7830849)
1994
41
Fibromuscular dysplasia of the renal arteries associated with antiphospholipid autoantibodies: two case reports. (1442763)
1992
42
Gastrointestinal arterial fibromuscular dysplasia of childhood. (2910233)
1989
43
Recurrent aneurysms of the upper arteries of the lower limb: an atypical manifestation of fibromuscular dysplasia--a case report. (3592298)
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 the internal carotid artery treated by operative transluminal balloon angioplasty. (3159038)
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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Clinvar genetic disease variations for Fibromuscular Dysplasia:

6
id Gene Variation Type Significance SNP ID Assembly Location
1FLNANM_001110556.1(FLNA): c.3476A> C (p.Asp1159Ala)single nucleotide variantPathogenicrs28935471GRCh37Chr X, 153588687: 153588687
2FLNANM_001110556.1(FLNA): c.3557C> T (p.Ser1186Leu)single nucleotide variantPathogenicrs137853312GRCh37Chr 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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Pathways related to Fibromuscular Dysplasia according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
8.8AGT, REN, ACE
2
Show member pathways
8.2REN, AGTR1, AGT, ACE
3
Show member pathways
8.2REN, ACE, AGT, AGTR1

Compounds for genes affiliated with Fibromuscular Dysplasia

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Compounds related to Fibromuscular Dysplasia according to GeneCards Suite gene sharing:

(show top 50)    (show all 122)
idCompoundScoreTop Affiliating Genes
1remikiren43 1210.2AGT, ACE, REN
2enalaprilat439.1REN, AGT, ACE
3lacidipine439.1AGTR1, ACE, REN
4trandolapril43 1210.0ACE, REN, AGTR1
5cilazapril43 1210.0AGTR1, ACE, REN
6eplerenone43 59 28 1212.0AGTR1, ACE, REN
7fosinopril43 1210.0REN, ACE, AGTR1
8quinapril43 49 1211.0ACE, AGTR1, REN
9ramipril43 129.9AGTR1, ACE, REN
10hydralazine43 49 1210.9AGTR1, ACE, REN
11thiazide438.9ACE, REN, AGTR1
12felodipine43 28 1210.9REN, ACE, AGTR1
13pd12331943 289.9ACE, AGT, AGTR1
14dihydropyridine438.8REN, AGTR1, ACE
15spironolactone43 59 28 49 1212.8REN, ACE, AGTR1
16temocaprilat438.7ACE, AGTR1
17carvedilol43 49 28 1211.7ACE, REN, AGTR1
18nitroglycerin43 129.7ACE, AGTR1, REN
19aliskiren43 129.6AGT, REN, ACE, AGTR1
20saralasin438.6AGTR1, AGT, ACE, REN
21eprosartan43 28 1210.6AGT, REN, AGTR1, ACE
22olmesartan43 28 1210.6AGTR1, REN, ACE, AGT
23benazepril43 49 1210.6AGTR1, AGT, ACE, REN
24lisinopril43 49 24 1211.6REN, AGT, AGTR1, ACE
25chymostatin438.6AGTR1, ACE, AGT, REN
26valsartan43 59 28 1211.6AGT, REN, ACE, AGTR1
27telmisartan43 28 1210.6AGT, AGTR1, REN, ACE
28perindopril43 49 1210.6REN, ACE, AGT, AGTR1
29atenolol43 49 28 24 1212.6REN, AGTR1, ACE, AGT
30irbesartan43 28 49 1211.6REN, ACE, AGT, AGTR1
31candesartan43 49 28 1211.6REN, AGT, AGTR1, ACE
32diltiazem43 28 49 1211.6REN, AGT, AGTR1, ACE
33hydrochlorothiazide43 28 49 24 1212.6AGT, ACE, REN, AGTR1
34amlodipine43 49 24 1211.6REN, AGTR1, ACE, AGT
35enalapril43 49 1210.6ACE, AGT, AGTR1, REN
36ang ii438.5AGTR1, REN, AGT, ACE
37captopril43 59 49 28 1212.5ACE, AGT, REN, AGTR1
38losartan43 49 28 1211.5AGT, REN, ACE, AGTR1
39acth438.4SERPINA1, AGTR1, REN, AGT
40fibrinogen438.4APOH, DES, AGT, AGTR1, SERPINA1
41nifedipine43 28 49 1211.4AGTR1, ACE, REN, AGT
42heparin43 28 24 1211.2AGTR1, DES, APOH, SERPINA1, AGT
43prostacyclin438.1REN, ACE, APOH, AGTR1, AGT
44norepinephrine43 24 1210.1DES, AGT, AGTR1, ACE, REN
45cholesterol43 28 24 1210.7APOH, AGTR1, ACE, REN, AGT, SERPINA1
46creatinine437.4REN, AGTR1, AGT, SERPINA1, DES, APOH
47nitric oxide43 24 129.3REN, DES, ACE, APOH, AGT, AGTR1
48lipid437.2AGTR1, FLNA, AGT, CDIPT, ACE, APOH
49calcium43 49 24 129.9REN, DES, ACE, CDIPT, APOH, AGT
50glucose436.8DES, APOH, REN, ACE, CDIPT, AGT

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:00055768.0SERPINA1, FLNA, REN, ACE, AGT
2extracellular spaceGO:00056157.6APOH, SERPINA1, REN, ACE, AGT

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

(show all 22)
idNameGO IDScoreTop Affiliating Genes
1regulation of blood vessel size by renin-angiotensinGO:00020349.6AGTR1, AGT
2positive regulation of NAD(P)H oxidase activityGO:00338649.6AGTR1, AGT
3regulation of renal sodium excretionGO:00358139.6AGT, AGTR1
4regulation of proteolysisGO:00301629.6SERPINA1, AGT
5positive regulation of cholesterol esterificationGO:00108739.6AGTR1, AGT
6low-density lipoprotein particle remodelingGO:00343749.6AGT, AGTR1
7positive regulation of cellular protein metabolic processGO:00322709.6AGTR1, AGT
8positive regulation of macrophage derived foam cell differentiationGO:00107449.5AGTR1, AGT
9positive regulation of reactive oxygen species metabolic processGO:020003799.5AGTR1, AGT
10regulation of renal output by angiotensinGO:00020199.5ACE, AGT
11negative regulation of angiogenesisGO:00165259.4APOH, AGT
12phospholipase C-activating G-protein coupled receptor signaling pathwayGO:00072009.4AGTR1, AGT
13renin-angiotensin regulation of aldosterone productionGO:00020189.3AGT, AGTR1, REN
14positive regulation of inflammatory responseGO:00507299.3AGT, AGTR1
15regulation of cell growthGO:00015589.3AGTR1, AGT
16regulation of systemic arterial blood pressure by renin-angiotensinGO:00030819.3ACE, AGTR1
17regulation of vasodilationGO:00423129.3AGTR1, ACE
18blood vessel remodelingGO:00019749.3AGT, ACE
19angiotensin maturationGO:00020039.1AGT, REN, ACE
20regulation of blood pressureGO:00082179.0REN, ACE
21regulation of vasoconstrictionGO:00192298.8AGT, ACE, AGTR1
22kidney developmentGO:00018228.5AGT, AGTR1, REN, ACE

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

idNameGO IDScoreTop Affiliating Genes
1glycoprotein bindingGO:00019489.7APOH, FLNA
2bradykinin receptor bindingGO:00317118.9ACE, AGTR1
3protein bindingGO:00055156.6DES, APOH, SERPINA1, FLNA, ACE, AGT

Products for genes affiliated with Fibromuscular Dysplasia

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Sources for Fibromuscular Dysplasia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet