FMDA
MCID: FBR032
MIFTS: 48

Fibromuscular Dysplasia (FMDA)

Categories: Rare diseases

Aliases & Classifications for Fibromuscular Dysplasia

MalaCards integrated aliases for Fibromuscular Dysplasia:

Name: Fibromuscular Dysplasia 57 74 20 53 54 17 71
Fibromuscular Dysplasia of Arteries 57 74 20
Fmd 57 20
Fmda 57

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant


HPO:

31
fibromuscular dysplasia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 135580
MedGen 41 C0016052
UMLS 71 C0016052

Summaries for Fibromuscular Dysplasia

NINDS : 53 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 renovascular hypertension and carotid artery dissection. An important gene associated with Fibromuscular Dysplasia is ACE (Angiotensin I Converting Enzyme), and among its related pathways/superpathways are p70S6K Signaling and AGE-RAGE signaling pathway in diabetic complications. The drugs Artemether and Lumefantrine have been mentioned in the context of this disorder. Affiliated tissues include brain, kidney and heart, and related phenotypes are myocardial infarction and aortic dissection

GARD : 20 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. 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. Some people with FMD experience no symptoms of the disease while others may experience high blood pressure, dizziness or vertigo, chronic headache, ringing in the ears, weakness or numbness in the face, neck pain, or changes in vision. Potential severe complications include arterial aneurysms and dissections, stroke, subarachnoid hemorrhage (when a brain aneurysm ruptures), and mesenteric ischemia. 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. Familial cases of FMD are rare. Treatment is based on the arteries affected and the progression and severity of the disease.

OMIM® : 57 Fibromuscular dysplasia (FMDA) is a nonatherosclerotic, noninflammatory arterial disease that most commonly involves the renal and carotid arteries. The prevalence of symptomatic renal artery FMDA is about 4 in 1,000 and the prevalence of cervicocranial FMDA is about half of that. Histologic classification includes 3 main subtypes, intimal, medial, and perimedial, which may be associated in a single patient. Angiographic classification includes the multifocal type, with multiple stenoses and the 'string of beads' appearance that is related to medial FMDA, and tubular and focal types, which are not clearly related to specific histologic lesions (summary by Plouin et al., 2007) (135580) (Updated 05-Mar-2021)

Wikipedia : 74 Fibromuscular dysplasia (FMD) is a non-atherosclerotic, non-inflammatory disease of the blood vessels... more...

Related Diseases for Fibromuscular Dysplasia

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

(show top 50) (show all 345)
# Related Disease Score Top Affiliating Genes
1 renovascular hypertension 31.2 YY1AP1 REN AGTR1 ACE
2 carotid artery dissection 30.8 PHACTR1 MYLK
3 aortic dissection 30.8 MYLK COL5A1 ACE
4 proteinuria, chronic benign 30.6 REN AGTR1 ACE
5 renal hypertension 30.5 REN AGTR1 AGT ACE
6 renal artery disease 30.3 REN AGTR1 AGT ACE
7 stroke, ischemic 30.2 REN AGTR1 AGT ACE
8 aortic aneurysm, familial abdominal, 1 30.2 REN AGTR1 ACE
9 loeys-dietz syndrome 30.2 MYLK COL5A1 AGTR1
10 cerebrovascular disease 30.2 REN AGTR1 AGT ACE
11 hypertensive retinopathy 30.2 REN AGTR1 ACE
12 pneumothorax 30.2 SERPINA1 PGR COL5A1
13 malignant hypertension 30.2 REN AGTR1 AGT ACE
14 pre-eclampsia 30.1 REN AGTR1 AGT ACE
15 renal artery obstruction 30.1 REN ACE
16 hypertension, diastolic 30.1 REN ACE
17 portal hypertension 30.1 TGFB1 AGTR1 ACE
18 urinary tract infection 30.0 TGFB1 ACE
19 aortic aneurysm, familial thoracic 1 30.0 MYLK COL5A1 AGTR1
20 congestive heart failure 30.0 REN AGTR1 AGT ACE
21 hypertensive encephalopathy 30.0 REN AGTR1 ACE
22 orthostatic intolerance 30.0 REN COL5A1 AGTR1 ACE
23 familial hypertension 30.0 REN AGTR1 AGT
24 pulmonary edema 29.9 REN AGTR1 ACE
25 grange syndrome 29.8 YY1AP1 YY1 INO80
26 aortic disease 29.8 REN MYLK ACE
27 renal hypodysplasia/aplasia 1 29.8 REN AGTR1 AGT ACE
28 end stage renal disease 29.6 TGFB1 REN AGTR1 AGT ACE
29 moyamoya disease 1 29.6 TGFB1 RNF213 PHACTR1 OBSCN MYLK
30 chronic kidney disease 29.6 TGFB1 REN AGTR1 AGT ACE
31 heart valve disease 29.6 TGFB1 REN ACE
32 marfan syndrome 29.5 TGFB1 MYLK COL5A1 AGTR1
33 pulmonary hypertension 29.5 TGFB1 SERPINA1 REN AGTR1 AGT ACE
34 lipoprotein quantitative trait locus 29.5 SERPINA1 REN AGTR1 AGT ACE
35 kidney disease 29.5 TGFB1 REN AGTR1 AGT ACE
36 coronary artery vasospasm 29.5 REN ACE
37 myocardial infarction 29.5 TGFB1 REN PHACTR1 AGTR1 AGT ACE
38 hypertension, essential 29.4 TGFB1 REN MYLK AGTR1 AGT ACE
39 liver cirrhosis 29.3 TGFB1 SERPINA1 REN AGT ACE
40 hypertrophic cardiomyopathy 29.2 TGFB1 REN OBSCN AGTR1 AGT ACE
41 heart disease 29.1 TGFB1 SERPINA1 REN DYNC2H1 AGTR1 AGT
42 dilated cardiomyopathy 28.3 YY1 TGFB1 REN OBSCN AGTR1 AGT
43 frontometaphyseal dysplasia 11.5
44 coronary artery dissection, spontaneous 11.2
45 otopalatodigital syndrome, type i 11.1
46 facioscapulohumeral muscular dystrophy 1 11.1
47 frontometaphyseal dysplasia 1 11.1
48 otopalatodigital syndrome, type ii 11.0
49 melnick-needles syndrome 11.0
50 mouth disease 10.9

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



Diseases related to Fibromuscular Dysplasia

Symptoms & Phenotypes for Fibromuscular Dysplasia

Human phenotypes related to Fibromuscular Dysplasia:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 myocardial infarction 31 HP:0001658
2 aortic dissection 31 HP:0002647
3 stroke 31 HP:0001297
4 renovascular hypertension 31 HP:0100817
5 intermittent claudication 31 HP:0004417
6 arterial fibromuscular dysplasia 31 HP:0005313

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Cardiac:
myocardial infarction

Neuro:
stroke

G U:
hypertension due to renal artery hyperplasia

Vascular:
aortic dissection
arterial fibromuscular dysplasia

Limbs:
claudication

Clinical features from OMIM®:

135580 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Fibromuscular Dysplasia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.17 ACE AGT AGTR1 CDIPT DYNC2H1 INO80
2 growth/size/body region MP:0005378 10.15 ACE AGT AGTR1 COL5A1 DYNC2H1 INO80
3 cardiovascular system MP:0005385 10.14 ACE AGT AGTR1 COL5A1 DYNC2H1 INO80
4 mortality/aging MP:0010768 10.1 ACE AGT AGTR1 CDIPT COL5A1 DYNC2H1
5 muscle MP:0005369 9.7 AGT INO80 MYLK OBSCN PGR REN
6 normal MP:0002873 9.56 COL5A1 INO80 MYLK PGR REN RNF213
7 renal/urinary system MP:0005367 9.23 ACE AGT AGTR1 DYNC2H1 MYLK PHACTR1

Drugs & Therapeutics for Fibromuscular Dysplasia

Drugs for Fibromuscular Dysplasia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Artemether Approved Phase 3 71963-77-4 119380 9796294 68911
2
Lumefantrine Approved Phase 3 82186-77-4 6437380
3
Dihydroartemisinin Experimental, Investigational Phase 3 71939-50-9 6918483
4
Piperaquine Experimental, Investigational Phase 3 4085-31-8 5079497
5 Anti-Infective Agents Phase 3
6 Antimalarials Phase 3
7 Antiprotozoal Agents Phase 3
8 Antiparasitic Agents Phase 3
9 Artemether, Lumefantrine Drug Combination Phase 3
10 Angiotensin Receptor Antagonists
11 Angiotensin-Converting Enzyme Inhibitors
12 Antihypertensive Agents
13 Anticholesteremic Agents

Interventional clinical trials:

(show all 12)
# Name Status NCT ID Phase Drugs
1 Evaluating the Effectiveness and Feasibility of Reactive Focal Mass Drug Administration vs. Reactive Case Detection as a Community Level Intervention in Response to a Passively Identified Index Malaria Case in Swaziland Completed NCT02315690 Phase 3 dihydroartemisinin-piperaquine (DHAp)
2 Assessment of Contrast-enhanced Ultrasonography, Shear Wave Elastography, Strain Imaging, and 3-D Volume Ultrasonography on Arterial Wall Visualization and Stiffness in Patients With Fibromuscular Dysplasia... Withdrawn NCT03335020 Phase 1 Contrast-Enhanced Ultrasound
3 PREVALENCE STUDY OF FIBROMUSCULAR DYSPLASIA IN PATIENTS WITH HAEMATOMA OR SPONTANEOUS CORONARY ARTERY DISSECTION Unknown status NCT02799186
4 Assessment of Renal Artery Fibromuscular Dysplasia: From Diagnosis to Treatment Unknown status NCT02586870
5 The CAUSE Trial: Genomics of Extreme Trait-Coronary Artery Disease Cells and Fibromuscular Dysplasia Using Induced Pluripotent Stem Cell-Derived Endothelial Cells Completed NCT01808729
6 Pathophysiological Mechanisms of Fibromuscular Dysplasia Completed NCT01935752
7 Assessment of Renal and Cervical Artery DysplasIA Completed NCT02884141
8 Renal Arteries Dysplastic Aneurysms: Anatomopathological and Genetic Study Completed NCT02528149
9 PROgression of FIbromuscular LEsions Completed NCT02961868
10 A Prospective Danish National Registry of Percutaneous Transluminal Renal Angioplasty in Patients With Renovascular Hypertension Recruiting NCT02770066
11 Study of Arterial Properties by Ultra-high Frequency Ultrasound in Fibromuscular Dysplasia and Vascular Ehlers-Danlos Syndrome Recruiting NCT03596437
12 Defining the Basis of Fibromuscular Dysplasia: The Define-FMD Study Recruiting NCT01967511

Search NIH Clinical Center for Fibromuscular Dysplasia

Genetic Tests for Fibromuscular Dysplasia

Anatomical Context for Fibromuscular Dysplasia

MalaCards organs/tissues related to Fibromuscular Dysplasia:

40
Brain, Kidney, Heart, Endothelial, Skin, Bone, Smooth Muscle

Publications for Fibromuscular Dysplasia

Articles related to Fibromuscular Dysplasia:

(show top 50) (show all 1998)
# Title Authors PMID Year
1
Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease. 57 61
27939641 2017
2
Fibromuscular dysplasia. 61 57
17555581 2007
3
Coexistence of hypertrophic cardiomyopathy and fibromuscular dysplasia of the superior mesenteric artery. 61 57
11336027 2001
4
Dissecting aortic aneurysm as a complication of generalized fibromuscular dysplasia. 61 57
1568754 1992
5
"Vascular neurofibromatosis" and infantile gangrene. 61 57
2510517 1989
6
Familial form of fibromuscular dysplasia of the internal carotid artery. 61 57
6864261 1983
7
Fibromuscular dysplasia and the brain. I. Observations on angiographic, clinical and genetic characteristics. 61 57
7064180 1982
8
Penetrance estimates and recurrence risks for fibromuscular dysplasia. 57 61
7363496 1980
9
The genetics of fibromuscular dysplasia. 61 57
7352819 1980
10
Hereditary fibromuscular dysplasia with renovascular hypertension. 61 57
851308 1977
11
Sequencing of cDNA from 50 unrelated patients reveals that mutations in the triple-helical domain of type III procollagen are an infrequent cause of aortic aneurysms. 57
8514866 1993
12
Occurrence of renovascular hypertension in two sisters. 57
951017 1976
13
Fibromuscular hyperplasia of the external iliac arteries. An unusual cause of intermittent claudication. 57
5906834 1966
14
Renal-artery abnormalities in three hypertensive sisters. Probable familial fibromuscular hyperplasia. 57
5897359 1965
15
Hypertension in two sisters caused by so-called fibromuscular hyperplasia of the renal arteries. 57
5839403 1965
16
Perimuscular fibrosis of renal arteries with hypertension. 57
14001730 1963
17
Percutaneous transluminal renal angioplasty (PTRA) as a method of therapy for renovascular hypertension in children. 54 61
2140097 1990
18
[Spontaneous coronary artery dissection]. 61
33538629 2021
19
Long term outcomes of kidney donors with fibromuscular dysplasia. 61
33566102 2021
20
Spontaneous visceral artery dissections in otherwise normal arteries: Clinical features, management, and outcomes compared with fibromuscular dysplasia. 61
32623103 2021
21
Fibromuscular Dysplasia and Cervical Artery Dissection: Eyes do not see what the mind does not know. 61
33607285 2021
22
[Molecular genetics of human hypertension]. 61
33595671 2021
23
PTGIR, a susceptibility gene for fibromuscular dysplasia? 61
33394030 2021
24
Spontaneous cervical artery dissection and fibromuscular dysplasia: Epidemiologic and biologic evidence of a mutual relationship. 61
33524506 2021
25
Clinical Features of Patients With Cervical Artery Dissection and Fibromuscular Dysplasia. 61
33504192 2021
26
Ruptured Epiploic Artery Aneurysm Associated With Fibromuscular Dysplasia. 61
32888781 2021
27
A Rare Quadruple Association: Fibromuscular Dysplasia, Giant Splenic Artery Aneurysm, Extrahepatic Portal Hypertension, and Hypersplenism. 61
33603311 2021
28
Prevalence and manifestations of diagnosed fibromuscular dysplasia by sex and race: Analysis of >4500 FMD cases in the United States. 61
33069453 2021
29
Systematic review and meta-analysis of the clinical characteristics and outcomes of spontanous coronary artery dissection. 61
32861717 2021
30
Spontaneous Coronary Artery Dissection and Fibromuscular Dysplasia: Vasculopathies With a Predilection for Women. 61
32713767 2021
31
Left ventricular mass reduction and hypertrophy regression following renal artery revascularization: a meta-analysis. 61
32833917 2021
32
Detection of Carotid Webs by CT Angiography, High-Resolution MRI, and Ultrasound. 61
32986890 2021
33
Carotid webs associated with ischemic stroke. Updated general review and research directions. 61
33455831 2021
34
Mesenteric Arteriovenous Dysplasia/Vasculopathy Mimicking Crohn's Disease: A Case Report. 61
33455689 2021
35
Renovascular hypertension in children. 61
33411105 2021
36
Spontaneous Coronary Artery Dissection: Insights on Rare Genetic Variation From Genome Sequencing. 61
33125268 2020
37
National French Registry of Spontaneous Coronary Artery Dissections: Prevalence of Fibromuscular Dysplasia and Genetic Analyses. 61
33319763 2020
38
Fibromuscular dysplasia and hypertension-a statement on behalf of the British and Irish Hypertension Society. 61
33262434 2020
39
A rare case of fibromuscular dysplasia involving multiple vascular beds. 61
33297877 2020
40
Major orthopedic surgery in a patient with fibromuscular dysplasia in the right renal artery and mild hemophilia A: First case reported. 61
33279213 2020
41
Endovascular management of an unsual case of spontaneous Retroperitoneal Haemorrhage due to Fibromuscular Dysplasia. 61
32923979 2020
42
Carotid Webs in Pediatric Acute Ischemic Stroke. 61
33075708 2020
43
Carotid web: an occult mechanism of embolic stroke. 61
33004431 2020
44
Safety and feasibility of carotid revascularization in patients with cerebral embolic strokes associated with carotid webs and histopathology revisited. 61
33322975 2020
45
Post-traumatic aneurysmal rupture involving the circle of Willis affected by fibromuscular dysplasia. A case report and systematic review. 61
32653857 2020
46
A Novel Recurrent COL5A1 Genetic Variant Is Associated With a Dysplasia-Associated Arterial Disease Exhibiting Dissections and Fibromuscular Dysplasia. 61
32938213 2020
47
Spontaneous coronary artery dissection: clinical implications and diagnostic challenges. Overlooked and underappreciated in Asia? 61
33079391 2020
48
Distal radial artery (Snuffbox) access for intracranial aneurysm treatment using the Woven EndoBridge (WEB) device. 61
33222936 2020
49
Kidney enlargement effect of angioplasty for nonatherosclerotic renovascular disease: reversibility of ischemic kidney. 61
32444857 2020
50
Dissecting the Cardiac Conduction System: Is It Worthwhile? 61
32755444 2020

Variations for Fibromuscular Dysplasia

Expression for Fibromuscular Dysplasia

Search GEO for disease gene expression data for Fibromuscular Dysplasia.

Pathways for Fibromuscular Dysplasia

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.54 TGFB1 REN AGTR1 AGT ACE
2 11.33 TGFB1 AGTR1 AGT
3 11.1 REN AGTR1 AGT ACE
4
Show member pathways
10.92 TGFB1 REN AGTR1 AGT ACE

GO Terms for Fibromuscular Dysplasia

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

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.77 YY1AP1 YY1 TGFB1 RNF213 REN PHACTR1
2 collagen-containing extracellular matrix GO:0062023 9.46 TGFB1 SERPINA1 COL5A1 AGT
3 Ino80 complex GO:0031011 8.8 YY1AP1 YY1 INO80

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of gene expression GO:0010629 9.86 YY1 TGFB1 PGR ACE
2 regulation of blood pressure GO:0008217 9.69 REN AGT ACE
3 positive regulation of superoxide anion generation GO:0032930 9.59 TGFB1 AGT
4 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.58 AGTR1 AGT
5 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.58 TGFB1 AGT
6 low-density lipoprotein particle remodeling GO:0034374 9.57 AGTR1 AGT
7 amyloid-beta metabolic process GO:0050435 9.55 REN ACE
8 kidney development GO:0001822 9.55 REN DYNC2H1 AGTR1 AGT ACE
9 angiotensin maturation GO:0002003 9.54 REN ACE
10 positive regulation of cholesterol esterification GO:0010873 9.52 AGTR1 AGT
11 regulation of vasoconstriction GO:0019229 9.5 AGTR1 AGT ACE
12 positive regulation of NAD(P)H oxidase activity GO:0033864 9.49 AGTR1 AGT
13 regulation of renal sodium excretion GO:0035813 9.48 AGTR1 AGT
14 regulation of blood vessel diameter by renin-angiotensin GO:0002034 9.46 AGTR1 AGT
15 mononuclear cell proliferation GO:0032943 9.43 TGFB1 ACE
16 positive regulation of cellular protein metabolic process GO:0032270 9.43 TGFB1 AGTR1 AGT
17 regulation of renal output by angiotensin GO:0002019 9.4 AGT ACE
18 regulation of blood volume by renin-angiotensin GO:0002016 9.37 REN AGT
19 regulation of systemic arterial blood pressure by renin-angiotensin GO:0003081 9.13 AGTR1 AGT ACE
20 renin-angiotensin regulation of aldosterone production GO:0002018 8.8 REN AGTR1 AGT

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

# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.26 PHACTR1 MYLK INO80 ACE
2 bradykinin receptor binding GO:0031711 8.62 AGTR1 ACE

Sources for Fibromuscular Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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