FMD
MCID: FBR032
MIFTS: 60

Fibromuscular Dysplasia (FMD) malady

Rare diseases, Cardiovascular diseases, Nephrological diseases categories
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Summaries for Fibromuscular Dysplasia

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NINDS:43 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 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: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. 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:65 Fibromuscular dysplasia, often abbreviated as FMD, is a non-atherosclerotic, non-inflammatory vascular... more...

Description from OMIM:46 135580

Aliases & Classifications for Fibromuscular Dysplasia

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Sources:
42NIH Rare Diseases, 43NINDS, 44Novoseek, 62UMLS, 48Orphanet, 46OMIM, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Fibromuscular Dysplasia, Aliases & Descriptions:

Name: Fibromuscular Dysplasia 42 43 44 62
Fibromuscular Dysplasia of Arteries 42 48 46 62
 
Frontometaphyseal Dysplasia 62
Fmd 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Cardiovascular diseases, Nephrological diseases


Characteristics (Orphanet epidemiological data):

48
fibromuscular dysplasia of arteries:
Age of onset: Adulthood


External Ids:

OMIM46 135580
MESH via Orphanet35 C537929, D005352
ICD10 via Orphanet26 I77.3
UMLS via Orphanet63 C0016052, C1851111

Related Diseases for Fibromuscular Dysplasia

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Diseases related to Fibromuscular Dysplasia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 125)
idRelated DiseaseScoreTop Affiliating Genes
1retinal artery occlusion31.0APOH
2renovascular hypertension30.8REN, ACE, AGTR1
3hypertension30.8AGT, REN, ACE, AGTR1
4mitral valve prolapse30.7AGTR1
5vasculitis30.6SERPINA1, APOH
6malignant hypertension30.4ACE, REN
7hypokalemia30.2ACE, REN
8myocardial infarction30.1ACE, AGT, AGTR1, REN
9acute myocardial infarction29.6AGTR1, AGT, ACE, SERPINA1
10proteinuria29.4REN, AGT, AGTR1, ACE, APOH
11aneurysm11.0
12cerebritis10.6
13hypoaldosteronism10.5REN
14portal hypertension10.5REN
15hepatorenal syndrome10.5REN
16granular cell tumor10.5DES
17congestive heart failure10.5REN
18arteriovenous fistula10.4
19ischemia10.4
20mouth disease10.4
21carotid artery dissection10.4
22intracranial aneurysm10.4
23retinitis10.4
24pulmonary hypertension10.3
25cervicitis10.3
26spontaneous coronary artery dissection10.3
27gitelman syndrome10.2REN, AGT
28oligohydramnios10.2ACE
29systemic scleroderma10.2ACE
30alpha 1-antitrypsin deficiency10.2
31hepatitis10.2
32intermittent claudication10.2
33antiphospholipid syndrome10.2
34central retinal artery occlusion10.2
35hypertrophic cardiomyopathy10.2
36neurofibromatosis10.2
37aortic aneurysm10.2
38aortic coarctation10.2
39macrophagic myofasciitis10.2
40cerebral aneurysms10.2
41emphysema due to aat deficiency10.2SERPINA1, CDIPT
42conn's syndrome10.2REN, AGTR1
43melnick-needles syndrome10.2
44oto-palato-digital syndrome type 110.2
45oto-palato-digital syndrome type 210.2
46malignant fibroxanthoma10.2DES, SERPINA1
47hypertension, diastolic10.2ACE, REN
48renal hypertension10.1ACE, REN
49pure autonomic failure10.1ACE, REN
50celiac disease10.1

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



Diseases related to fibromuscular dysplasia

Symptoms for Fibromuscular Dysplasia

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Symptoms by clinical synopsis from OMIM:

135580

Clinical features from OMIM:

135580

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:

32
Brain, Kidney, Bone, Lung, Testes

Animal Models for Fibromuscular Dysplasia or affiliated genes

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MGI Mouse Phenotypes related to Fibromuscular Dysplasia:

36
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 512)
idTitleAuthorsYear
1
Renal artery stent fracture in patients with fibromuscular dysplasia: a cautionary tale. (23780296)
2013
2
Coronary vasospasm attributable to fibromuscular dysplasia: the long bridge to transplant. (23694776)
2013
3
Renal artery fibromuscular dysplasia in 2,640 renal donor subjects: a CT angiography analysis. (23911200)
2013
4
Acute aortic dissection and stroke in multivessel fibromuscular dysplasia. (23467036)
2013
5
Renal angioplasty for treatment of hypertensive patients with fibromuscular dysplasia. No country for old men. (23636016)
2013
6
Fibromuscular dysplasia-related aneurysms: one-year follow-up after treatment with a flow-diverting stent. (23707102)
2013
7
Diagnosis and management of fibromuscular dysplasia: an expert consensus. (21854373)
2012
8
Fibromuscular dysplasia. (22566353)
2012
9
Images in vascular medicine. A ruptured intracranial aneurysm with underlying cervicocranial fibromuscular dysplasia. (22006367)
2012
10
Low yield of genetic testing for known vascular connective tissue disorders in patients with fibromuscular dysplasia. (23064905)
2012
11
Fibromuscular dysplasia: a differential diagnosis of vasculitis. (22286647)
2012
12
Standing arterial waves is NOT fibromuscular dysplasia. (22338008)
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 Name 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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Expression patterns in normal tissues for genes affiliated with Fibromuscular Dysplasia

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/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6SERPINA1, APOH
2
Show member pathways
8.8AGT, ACE, REN
3
Show member pathways
8.2REN, ACE, AGT, AGTR1
4
Show member pathways
8.2AGTR1, AGT, ACE, REN

Compounds for genes affiliated with Fibromuscular Dysplasia

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Compounds related to Fibromuscular Dysplasia according to GeneCards/GeneDecks:

(show top 50)    (show all 122)
idCompoundScoreTop Affiliating Genes
1remikiren44 1110.2AGT, ACE, REN
2enalaprilat449.1REN, AGT, ACE
3lacidipine449.1AGTR1, ACE, REN
4trandolapril44 1110.0ACE, REN, AGTR1
5cilazapril44 1110.0AGTR1, ACE, REN
6eplerenone44 61 28 1112.0AGTR1, ACE, REN
7fosinopril44 1110.0REN, ACE, AGTR1
8quinapril44 50 1111.0ACE, AGTR1, REN
9ramipril44 119.9AGTR1, ACE, REN
10hydralazine44 50 1110.9AGTR1, ACE, REN
11thiazide448.9ACE, REN, AGTR1
12felodipine44 28 1110.9REN, ACE, AGTR1
13pd12331944 289.9ACE, AGT, AGTR1
14dihydropyridine448.8REN, AGTR1, ACE
15spironolactone44 61 28 50 1112.8REN, ACE, AGTR1
16temocaprilat448.7ACE, AGTR1
17carvedilol44 50 28 1111.7ACE, REN, AGTR1
18nitroglycerin44 119.7ACE, AGTR1, REN
19aliskiren44 119.6AGT, REN, ACE, AGTR1
20saralasin448.6AGTR1, AGT, ACE, REN
21eprosartan44 28 1110.6AGT, REN, AGTR1, ACE
22olmesartan44 28 1110.6AGTR1, REN, ACE, AGT
23benazepril44 50 1110.6AGTR1, AGT, ACE, REN
24lisinopril44 50 24 1111.6REN, AGT, AGTR1, ACE
25chymostatin448.6AGTR1, ACE, AGT, REN
26valsartan44 61 28 1111.6AGT, REN, ACE, AGTR1
27telmisartan44 28 1110.6AGT, AGTR1, REN, ACE
28perindopril44 50 1110.6REN, ACE, AGT, AGTR1
29atenolol44 50 28 24 1112.6REN, AGTR1, ACE, AGT
30irbesartan44 28 50 1111.6REN, ACE, AGT, AGTR1
31candesartan44 50 28 1111.6REN, AGT, AGTR1, ACE
32diltiazem44 28 50 1111.6REN, AGT, AGTR1, ACE
33hydrochlorothiazide44 28 50 24 1112.6AGT, ACE, REN, AGTR1
34amlodipine44 50 24 1111.6REN, AGTR1, ACE, AGT
35enalapril44 50 1110.6ACE, AGT, AGTR1, REN
36ang ii448.5AGTR1, REN, AGT, ACE
37captopril44 61 50 28 1112.5ACE, AGT, REN, AGTR1
38losartan44 50 28 1111.5AGT, REN, ACE, AGTR1
39acth448.4SERPINA1, AGTR1, REN, AGT
40fibrinogen448.4APOH, DES, AGT, AGTR1, SERPINA1
41nifedipine44 28 50 1111.4AGTR1, ACE, REN, AGT
42heparin44 28 24 1111.2AGTR1, DES, APOH, SERPINA1, AGT
43prostacyclin448.1REN, ACE, APOH, AGTR1, AGT
44norepinephrine44 24 1110.1DES, AGT, AGTR1, ACE, REN
45cholesterol44 28 24 1110.7APOH, AGTR1, ACE, REN, AGT, SERPINA1
46creatinine447.4REN, AGTR1, AGT, SERPINA1, DES, APOH
47nitric oxide44 24 119.3REN, DES, ACE, APOH, AGT, AGTR1
48lipid447.2AGTR1, FLNA, AGT, CDIPT, ACE, APOH
49calcium44 50 24 119.9REN, DES, ACE, CDIPT, APOH, AGT
50glucose446.8DES, 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/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:0055768.0FLNA, REN, ACE, AGT, SERPINA1
2extracellular spaceGO:0056157.6AGT, ACE, REN, SERPINA1, APOH

Biological processes related to Fibromuscular Dysplasia according to GeneCards/GeneDecks:

(show all 22)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of NAD(P)H oxidase activityGO:0338649.6AGT, AGTR1
2regulation of blood vessel size by renin-angiotensinGO:0020349.6AGT, AGTR1
3regulation of renal sodium excretionGO:0358139.6AGTR1, AGT
4positive regulation of cholesterol esterificationGO:0108739.6AGT, AGTR1
5low-density lipoprotein particle remodelingGO:0343749.6AGTR1, AGT
6regulation of proteolysisGO:0301629.6AGT, SERPINA1
7positive regulation of cellular protein metabolic processGO:0322709.6AGT, AGTR1
8positive regulation of macrophage derived foam cell differentiationGO:0107449.5AGTR1, AGT
9positive regulation of reactive oxygen species metabolic processGO:20003799.5AGTR1, AGT
10regulation of renal output by angiotensinGO:0020199.5AGT, ACE
11negative regulation of angiogenesisGO:0165259.4AGT, APOH
12phospholipase C-activating G-protein coupled receptor signaling pathwayGO:0072009.4AGTR1, AGT
13renin-angiotensin regulation of aldosterone productionGO:0020189.3AGTR1, AGT, REN
14positive regulation of inflammatory responseGO:0507299.3AGT, AGTR1
15regulation of cell growthGO:0015589.3AGTR1, AGT
16regulation of systemic arterial blood pressure by renin-angiotensinGO:0030819.3AGTR1, ACE
17regulation of vasodilationGO:0423129.3AGTR1, ACE
18blood vessel remodelingGO:0019749.3ACE, AGT
19angiotensin maturationGO:0020039.1REN, ACE, AGT
20regulation of blood pressureGO:0082179.0ACE, REN
21regulation of vasoconstrictionGO:0192298.8ACE, AGT, AGTR1
22kidney developmentGO:0018228.5AGTR1, AGT, ACE, REN

Molecular functions related to Fibromuscular Dysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1glycoprotein bindingGO:0019489.7FLNA, APOH
2bradykinin receptor bindingGO:0317118.9AGTR1, ACE
3protein bindingGO:0055156.6DES, APOH, SERPINA1, FLNA, ACE, AGT

Products for genes affiliated with Fibromuscular Dysplasia

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  • Antibodies
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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
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet