FMD
MCID: FBR032
MIFTS: 54

Fibromuscular Dysplasia (FMD) malady

Cardiovascular, Nephrological categories

Summaries for Fibromuscular Dysplasia

Sources:
43NIH Rare Diseases, 44NINDS, 64Wikipedia, 47OMIM, 33MalaCards
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NINDS:44 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: Fibromuscular Dysplasia, also known as fibromuscular dysplasia of arteries, is related to intracranial aneurysm and renovascular hypertension. An important gene associated with Fibromuscular Dysplasia is REN (renin), and among its related pathways are Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics and Thromboxane signalling through TP receptor. The compounds captopril and norepinephrine have been mentioned in the context of this disorder. Affiliated tissues include brain, small intestine and kidney, and related mouse phenotypes are muscle and renal/urinary system.

NIH Rare Diseases: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. 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:64 Fibromuscular dysplasia, often abbreviated as FMD, is a non-atherosclerotic, non-inflammatory vascular... more...

Description from OMIM:47 135580

Aliases & Classifications for Fibromuscular Dysplasia

Sources:
43NIH Rare Diseases, 44NINDS, 45Novoseek, 61UMLS, 49Orphanet, 47OMIM, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
fibromuscular dysplasia of arteries:
Age of onset: Adulthood


Aliases & Descriptions:

fibromuscular dysplasia 43 44 45 61
fibromuscular dysplasia of arteries 43 49 47
frontometaphyseal dysplasia 61
fmd 43


External Ids:

OMIM47 135580
MESH via Orphanet36 C537929, D005352
ICD10 via Orphanet26 I77.3
SNOMED-CT via Orphanet58 359553002
UMLS via Orphanet62 C0016052, C1851111

Related Diseases for Fibromuscular Dysplasia

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 149)
idRelated DiseaseScoreTop Affiliating Genes
1intracranial aneurysm30.9SERPINA1
2renovascular hypertension30.9AGTR1, REN, ACE
3stroke, ischemic30.7APOH
4carotid artery dissection30.6IGLL5
5vasculitis30.4APOH, SERPINA1
6vascular disease30.1APOH
7mitral valve prolapse30.0AGTR1
8adenoma30.0PITX1, REN
9noonan syndrome30.0AGTR1, AGT, DES, ACE
10acute myocardial infarction30.0SERPINA1, ACE, AGTR1, AGT
11renal dysplasia11.1
12bilateral renal dysplasia10.5
13carotid stenosis10.3
14n syndrome10.3
15aneurysm disease10.3
16spontaneous coronary artery dissection10.3
17cohen syndrome10.3
18central retinal artery occlusion10.2
19antiphospholipid syndrome10.2
20coronary aneurysm10.2
21intermittent claudication10.2
22hypertrophic cardiomyopathy10.2
23aortic aneurysm10.2
24aortic coarctation10.2
25coronary artery aneurysm10.2
26macrophagic myofasciitis10.2
27unilateral renal dysplasia10.2
28oto-palato-digital syndrome type 210.2
29melnick-needles syndrome10.2
30oto-palato-digital syndrome type 110.2
31tracheal stenosis10.1
32periventricular nodular heterotopia10.1
33craniometaphyseal dysplasia10.1
34otopalatodigital spectrum disorders10.1
35mental retardation10.1
36periventricular heterotopia10.1
37moyamoya disease10.1
38vacterl association10.1
39marfan syndrome10.1
40neurofibromatosis10.1
41renal artery obstruction10.1
42subclavian artery aneurysm10.1
43supravalvular aortic stenosis10.1
44proctitis10.1
45renal agenesis10.1
46myofibroma10.1
47radiculopathy10.1
48hydronephrosis10.1
49mixed connective tissue disease10.1
50lateral medullary syndrome10.1

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



Diseases related to fibromuscular dysplasia

Clinical Features for Fibromuscular Dysplasia

Sources:
47OMIM
See all sources

Clinical features from OMIM:

135580

Clinical synopsis from OMIM:

135580

Drugs & Therapeutics for Fibromuscular Dysplasia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Fibromuscular Dysplasia

Drug clinical trials:

Search ClinicalTrials for Fibromuscular Dysplasia

Search NIH Clinical Center for Fibromuscular Dysplasia

Search CenterWatch for Fibromuscular Dysplasia

Genetic Tests for Fibromuscular Dysplasia

Anatomical Context for Fibromuscular Dysplasia

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Fibromuscular Dysplasia:

33
Brain, Small intestine, Kidney, Lung, Skin

Animal Models for Fibromuscular Dysplasia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Fibromuscular Dysplasia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.4REN, TREX1, NF1, DES, AGT, PITX1
2MP:00053678.2ACE, REN, TREX1, NF1, AGT, AGTR1
3MP:00053708.0NF1, AGT, ACE, IGJ, TREX1
4MP:00053857.7REN, TREX1, NF1, AGT, AGTR1, ACE
5MP:00053877.7ACE, TREX1, IGJ, NF1, AGT, AGTR1
6MP:00053767.4AGT, DES, ACE, REN, TREX1, NF1
7MP:00107686.9NF1, APOH, PITX1, DES, AGTR1, AGT

Publications for Fibromuscular Dysplasia

Sources:
51PubMed
See all sources

Articles related to Fibromuscular Dysplasia:

(show top 50)    (show all 497)
idTitleAuthorsYear
1
Renal artery fibromuscular dysplasia in 2,640 renal donor subjects: a CT angiography analysis. (23911200)
2013
2
Fibromuscular dysplasia with multiple visceral artery involvement. (23601593)
2013
3
Fibromuscular dysplasia of the renal artery as a cause of secondary hypertension. (24082421)
2013
4
Treatment for renovascular hypertension due to fibromuscular dysplasia of renal arteries with renal autotransplantation. (23511770)
2013
5
Low yield of genetic testing for known vascular connective tissue disorders in patients with fibromuscular dysplasia. (23064905)
2012
6
Fibromuscular dysplasia: a differential diagnosis of vasculitis. (22286647)
2012
7
Is fibromuscular dysplasia a single disease? (23248062)
2012
8
Eight-year follow-up of a fibromuscular dysplasia patient with multiple fusiform aneurysms. (22945897)
2012
9
Diagnosing and treating atypical arterial pathologies of aortic arch vessels: dissection and fibromuscular dysplasia. (21718931)
2011
10
Fibromuscular dysplasia of the lower extremities. (23555446)
2011
11
Medical image. A rare case of brachial artery fibromuscular dysplasia (FMD). (21946972)
2011
12
An 8-month-old boy with congenital fibromuscular dysplasia presenting with shock caused by sudden renal hemorrhage. (20979950)
2010
13
Help get the right diagnosis for fibromuscular dysplasia. FMD is an often-misunderstood disease that can cause serious medical complications, such as aneurysms and other vascular damage. (22787710)
2010
14
Multiple aneurysms of the splenic artery caused by fibromuscular dysplasia. (18640819)
2009
15
Fibromuscular dysplasia with dissecting basilar aneurysm: endovascular treatment. (19729199)
2009
16
Images in cardiovascular medicine. Adventitial fibromuscular dysplasia of the renal artery: management challenges of nonatherosclerotic renal artery stenosis. (19901199)
2009
17
CTA and 2D-3D post-processing: radiological signs of fibromuscular dysplasia of renal artery. (18648722)
2009
18
When ballooning alone is enough: successful treatment of hypertension secondary to renal artery fibromuscular dysplasia using angioplasty. (17945366)
2009
19
Potential pitfalls of renal angiography: a case of atypical fibromuscular dysplasia. (18388035)
2008
20
Quiz page. Fibromuscular dysplasia of the right renal artery. (17687806)
2007
21
A distinctive case of fibromuscular dysplasia. (17535572)
2007
22
Fibromuscular dysplasia in association with intrauterine cocaine exposure. (17868884)
2007
23
Tetralogy of Fallot with atypical coarctation of the aorta and carotid arterial stenosis due to fibromuscular dysplasia. (17977479)
2007
24
Isolated intracranial fibromuscular dysplasia presents as stroke in a 19-year-old female. (16100981)
2005
25
Rupture of the renal artery after cutting balloon angioplasty in a young woman with fibromuscular dysplasia. (15886929)
2005
26
Renal artery stenosis due to fibromuscular dysplasia in an 18-week pregnant woman. (15863593)
2005
27
Intracranial atypical fibromuscular dysplasia with ruptured aneurysm--case report. (15633467)
2004
28
Long-term outcome after surgical kidney revascularization for fibromuscular dysplasia and atherosclerotic renal artery stenosis. (14767266)
2004
29
Renal atrophy outcome after revascularization in fibromuscular dysplasia disease. (12431144)
2002
30
Bilateral renal infarction in a black man with medial fibromuscular dysplasia. (10873889)
2000
31
Fibromuscular dysplasia: a rare cause of cilioretinal artery occlusion in childhood. (10768337)
2000
32
A case of sudden death caused by fibromuscular dysplasia. (10605412)
1999
33
Autotransplantation and stent implantation for bilateral renal artery fibromuscular dysplasia. (10487331)
1999
34
Fibromuscular Dysplasia of the Aorta Presenting as Multiple Recurrent Thoracic Aneurysms (9585453)
1998
35
Fibromuscular dysplasia of the internal carotid artery associated with alpha1-antitrypsin deficiency. (9696074)
1998
36
Childhood ischemic stroke caused by fibromuscular dysplasia of the intracranial artery--case report. (9259154)
1997
37
Systemic fibromuscular dysplasia masquerading as polyarteritis nodosa. (8672039)
1996
38
Renal fibromuscular dysplasia treated with partial nephrectomy. (8903553)
1996
39
Operative balloon dilatation of fibromuscular dysplasia of the internal carotid artery: two case reports. (7610746)
1995
40
A rare association of fibromuscular dysplasia of the femoral artery with aneurysm and occlusion treated alternatively. (8040173)
1994
41
Cerebellar infarction in children and young adults related to fibromuscular dysplasia and dissection of the vertebral artery. (8322388)
1993
42
Dissecting aortic aneurysm as a complication of generalized fibromuscular dysplasia. (1568754)
1992
43
Percutaneous angioplasty for renovascular hypertension due to fibromuscular dysplasia. (1329461)
1992
44
Fibromuscular dysplasia of renal arteries and acute loin pain. (2107919)
1990
45
Fibromuscular dysplasia of the renal artery in a child: detection by Doppler ultrasound and correction by percutaneous transluminal angioplasty. (2529474)
1989
46
Orthostatic hypertension due to coexistence of renal fibromuscular dysplasia and nephroptosis. (2977192)
1988
47
Familial fibromuscular dysplasia presenting as sudden death. (3219210)
1988
48
Fibromuscular dysplasia of the cephalic and renal arteries. (3621825)
1987
49
Percutaneous transluminal renal artery dilatation for fibromuscular dysplasia with special reference to the acute effects on the renin-angiotensin-aldosterone-system and blood pressure. (3158170)
1985
50
Generalized arterial fibromuscular dysplasia and myocardial infarction in familial supravalvular aortic stenosis syndrome. (5767347)
1969

Genetic Variations for Fibromuscular Dysplasia

Expression for genes affiliated with Fibromuscular Dysplasia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
50PharmGKB, 38NCBI BioSystems Database, 54Reactome, 12EMD Millipore, 52QIAGEN
See all sources

Pathways related to Fibromuscular Dysplasia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.2REN
2
Hide members
9.7AGT, AGTR1
3
Hide members
9.4ACE, AGT, REN
4
Hide members
9.0ACE, AGTR1, AGT, REN

Compounds for genes affiliated with Fibromuscular Dysplasia

Sources:
45Novoseek, 29IUPHAR, 50PharmGKB, 60Tocris Bioscience, 11DrugBank, 24HMDB
See all sources

Compounds related to Fibromuscular Dysplasia according to GeneCards/GeneDecks:

(show top 50)    (show all 100)
idCompoundScoreTop Affiliating Genes
1captopril45 29 50 60 1114.6REN
2norepinephrine45 11 2412.5DES
3temocaprilat459.8ACE, AGTR1
4lacidipine459.8AGTR1, REN, ACE
5remikiren45 1110.8AGT, REN, ACE
6cilazapril45 1110.8AGTR1, REN, ACE
7trandolapril45 1110.8AGTR1, REN, ACE
8fosinopril45 1110.7ACE, AGTR1, REN
9eplerenone45 60 29 1112.7ACE, REN, AGTR1
10quinapril45 1110.7REN, ACE, AGTR1
11ramipril45 1110.7AGTR1, ACE, REN
12enalaprilat459.7ACE, REN, AGT
13thiazide459.7REN, ACE, AGTR1
14sampatrilat459.7ACE, REN
15felodipine45 29 1111.6REN, AGTR1, ACE
16dihydropyridine459.6AGTR1, REN, ACE
17pd12331945 2910.6AGT, ACE, AGTR1
18spironolactone50 45 60 29 1113.5REN, ACE, AGTR1
19ibopamine459.5REN, ACE
20carvedilol45 50 29 1112.5AGTR1, ACE, REN
21aliskiren45 1110.4ACE, AGT, AGTR1, REN
22saralasin459.4AGT, REN, ACE, AGTR1
23eprosartan45 29 1111.4AGTR1, AGT, REN, ACE
24benazepril45 1110.4AGTR1, REN, ACE, AGT
25olmesartan45 29 1111.4REN, AGT, AGTR1, ACE
26lisinopril45 11 2411.4ACE, REN, AGT, AGTR1
27chymostatin459.4ACE, REN, AGTR1, AGT
28atenolol45 29 50 11 2413.4REN, AGTR1, AGT, ACE
29valsartan45 60 29 1112.4AGT, ACE, AGTR1, REN
30perindopril45 50 1111.4AGT, REN, ACE, AGTR1
31telmisartan45 29 1111.4REN, AGT, ACE, AGTR1
32irbesartan45 29 50 1112.4ACE, AGTR1, AGT, REN
33hydrochlorothiazide45 50 29 11 2413.4ACE, AGTR1, AGT, REN
34diltiazem45 29 1111.4AGTR1, REN, AGT, ACE
35nitroglycerin45 1110.4REN, AGTR1, ACE
36candesartan45 29 1111.4AGTR1, ACE, REN, AGT
37enalapril45 50 1111.4AGT, ACE, REN, AGTR1
38amlodipine45 50 11 2412.4AGTR1, AGT, ACE, REN
39ang ii459.4AGTR1, ACE, REN, AGT
40losartan45 50 29 1112.3ACE, REN, AGTR1, AGT
41nifedipine45 50 29 1112.2REN, ACE, AGT, AGTR1
42fibrinogen459.0AGTR1, APOH, AGT, DES, SERPINA1
43prostacyclin459.0APOH, AGTR1, REN, ACE, AGT
44lysine458.6AGTR1, NF1, DES, APOH, SERPINA1
45cholesterol45 29 11 2411.6AGT, AGTR1, REN, ACE, SERPINA1, APOH
46creatinine458.4REN, SERPINA1, APOH, ACE, DES, AGTR1
47arginine458.4APOH, AGT, NF1, DES, REN, AGTR1
48nitric oxide45 11 2410.4AGT, APOH, SERPINA1, ACE, AGTR1, DES
49glucose457.8APOH, AGTR1, AGT, DES, ACE, CDIPT
50lipid457.6SERPINA1, NF1, CDIPT, AGTR1, APOH, AGT

GO Terms for genes affiliated with Fibromuscular Dysplasia

Sources:
16Gene Ontology
See all sources

Cellular components related to Fibromuscular Dysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:0056158.4APOH, AGT, REN, ACE, SERPINA1
2extracellular regionGO:0055767.7AGT, IGJ, IGLL5, REN, ACE, SERPINA1

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

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of NAD(P)H oxidase activityGO:0338649.9AGTR1, AGT
2regulation of blood vessel size by renin-angiotensinGO:0020349.9AGT, AGTR1
3regulation of renal sodium excretionGO:0358139.9AGTR1, AGT
4regulation of renal output by angiotensinGO:0020199.9AGT, ACE
5positive regulation of cholesterol esterificationGO:0108739.9AGTR1, AGT
6regulation of systemic arterial blood pressure by renin-angiotensinGO:0030819.8AGTR1, ACE
7low-density lipoprotein particle remodelingGO:0343749.8AGT, AGTR1
8regulation of vasodilationGO:0423129.8ACE, AGTR1
9positive regulation of cellular protein metabolic processGO:0322709.8AGT, AGTR1
10renin-angiotensin regulation of aldosterone productionGO:0020189.8AGTR1, AGT, REN
11positive regulation of macrophage derived foam cell differentiationGO:0107449.7AGTR1, AGT
12positive regulation of reactive oxygen species metabolic processGO:20003799.7AGT, AGTR1
13angiotensin maturationGO:0020039.7AGT, REN, ACE
14regulation of vasoconstrictionGO:0192299.5ACE, AGT, AGTR1
15regulation of long-term neuronal synaptic plasticityGO:0481699.4NF1, AGT
16negative regulation of endothelial cell proliferationGO:0019379.3APOH, NF1
17kidney developmentGO:0018229.3ACE, AGTR1, AGT, REN

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

idNameGO IDScoreTop Affiliating Genes
1bradykinin receptor bindingGO:0317119.6ACE, AGTR1
2acetyltransferase activator activityGO:0106989.4AGT, AGTR1

Products for genes affiliated with Fibromuscular Dysplasia

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Fibromuscular Dysplasia

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet