FMD
MCID: FBR032
MIFTS: 52

Fibromuscular Dysplasia (FMD)

Categories: Rare diseases

Aliases & Classifications for Fibromuscular Dysplasia

MalaCards integrated aliases for Fibromuscular Dysplasia:

Name: Fibromuscular Dysplasia 58 77 54 55 56 17 74
Fibromuscular Dysplasia of Arteries 58 77 54
Fmd 58 54
Fmda 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
fibromuscular dysplasia:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Fibromuscular Dysplasia

NINDS : 55 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 aortic coarctation. An important gene associated with Fibromuscular Dysplasia is INO80 (INO80 Complex Subunit), and among its related pathways/superpathways are p70S6K Signaling and MicroRNAs in cardiomyocyte hypertrophy. The drugs Angiotensin Receptor Antagonists and Angiotensin-Converting Enzyme Inhibitors 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

NIH Rare Diseases : 54 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 : 58 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)

Wikipedia : 77 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 154)
# Related Disease Score Top Affiliating Genes
1 renovascular hypertension 31.0 ACE AGTR1 REN
2 aortic coarctation 30.7 ACE AGT AGTR1
3 myocardial infarction 30.1 ACE AGT AGTR1 PHACTR1 REN
4 arteries, anomalies of 29.8 ACE AGT AGTR1 REN
5 grange syndrome 29.7 INO80 YY1 YY1AP1
6 frontometaphyseal dysplasia 11.8
7 otopalatodigital syndrome, type i 11.3
8 facioscapulohumeral muscular dystrophy 1 11.2
9 frontometaphyseal dysplasia 1 11.2
10 coronary artery dissection, spontaneous 11.2
11 otopalatodigital syndrome, type ii 11.2
12 melnick-needles syndrome 11.2
13 frontometaphyseal dysplasia 2 11.0
14 pediatric hypertension 10.4 ACE AGT
15 ischemia 10.3
16 microvascular complications of diabetes 3 10.3 ACE AGT AGTR1
17 diastolic heart failure 10.3 ACE AGT AGTR1
18 ischemic optic neuropathy 10.3 ACE AGT AGTR1
19 hypertensive heart disease 10.3 ACE AGT AGTR1
20 arteriovenous fistula 10.2
21 intracranial aneurysm 10.2
22 carotid artery dissection 10.2
23 cerebral aneurysms 10.2
24 mitral valve disease 10.2 ACE AGT AGTR1
25 familial vesicoureteral reflux 10.2 ACE TGFB1
26 hypoaldosteronism 10.2 ACE REN
27 cerebral atherosclerosis 10.2 ACE RNF213
28 renal artery obstruction 10.2 ACE REN
29 takayasu arteritis 10.2
30 vasculitis 10.2
31 potter's syndrome 10.2 AGT REN
32 hypertension, diastolic 10.2 ACE REN
33 hypertensive encephalopathy 10.2 ACE REN
34 meningococcal infection 10.2 AGT AGTR1
35 hypertensive retinopathy 10.2 ACE REN
36 mouth disease 10.2
37 cardiac conduction defect 10.1
38 alpha-1-antitrypsin deficiency 10.1
39 pulmonary hypertension 10.1
40 acute myocardial infarction 10.1
41 aortic aneurysm 10.1
42 nephrosclerosis 10.1 ACE AGTR1 TGFB1
43 orthostatic proteinuria 10.1 ACE REN
44 hypertensive nephropathy 10.1 ACE AGTR1
45 retroperitoneal leiomyosarcoma 10.1 PGR REN
46 renal hypertension 10.1 ACE AGTR1 REN
47 congenital hepatic fibrosis 10.1 AGTR1 REN
48 familial hypertension 10.1 AGT AGTR1 REN
49 interstitial nephritis 10.1 ACE AGT REN
50 vesicoureteral reflux 1 10.1 AGT AGTR1 REN

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:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 myocardial infarction 33 HP:0001658
2 aortic dissection 33 HP:0002647
3 stroke 33 HP:0001297
4 renovascular hypertension 33 HP:0100817
5 intermittent claudication 33 HP:0004417
6 arterial fibromuscular dysplasia 33 HP:0005313

Symptoms via clinical synopsis from OMIM:

58
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

MGI Mouse Phenotypes related to Fibromuscular Dysplasia:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.06 ACE AGT AGTR1 CDIPT DYNC2H1 INO80
2 behavior/neurological MP:0005386 10.02 ACE AGT AGTR1 INO80 MYLK PGR
3 growth/size/body region MP:0005378 10 ACE AGT AGTR1 CDIPT DYNC2H1 INO80
4 homeostasis/metabolism MP:0005376 9.9 ACE AGT AGTR1 CDIPT INO80 MYLK
5 mortality/aging MP:0010768 9.7 ACE AGT AGTR1 CDIPT DYNC2H1 INO80
6 renal/urinary system MP:0005367 9.17 ACE AGT AGTR1 DYNC2H1 MYLK REN

Drugs & Therapeutics for Fibromuscular Dysplasia

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Angiotensin Receptor Antagonists
2 Angiotensin-Converting Enzyme Inhibitors
3 Anticholesteremic Agents
4 Antihypertensive Agents

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 Gadobutrol Enhanced MRA of the Renal Arteries Completed NCT01344460 Phase 3 Gadobutrol (Gadovist, BAY86-4875)
2 Using Ultrasonography, Shear Wave Elastography, Strain Imaging, and 3-D Volume Ultrasonography on Cardiovascular Disease Recruiting NCT03335020 Phase 1 Contrast-Enhanced Ultrasound
3 Assessment of Renal Artery Fibromuscular Dysplasia: From Diagnosis to Treatment Unknown status NCT02586870 Not Applicable
4 Study of Arterial Properties by Ultra-high Frequency Ultrasound in Fibromuscular Dysplasia and Vascular Ehlers-Danlos Syndrome Recruiting NCT03596437 Not Applicable
5 Pathophysiological Mechanisms of Fibromuscular Dysplasia Completed NCT01935752 Not Applicable
6 Cross-sectional Study of Patients With Renal or Craniocervical Fibromuscular Dysplasia Completed NCT02884141
7 Cohort Follow-up of Patients With Renal or Craniocervical Fibromuscular Dysplasia Completed NCT02961868 Not Applicable
8 CAUSE Trial: Patient Specific-Cellular Characterization of Fibromuscular Dysplasia and High-Risk Atherosclerotic Endothelium Completed NCT01808729
9 Defining the Basis of Fibromuscular Dysplasia (FMD) Recruiting NCT01967511
10 The Study of the Prevalence Fibromuscular Dysplasia in Patient With Haematoma or Spontaneous Coronary Artery Dissection. Recruiting NCT02799186 Not Applicable
11 Renal Arteries Dysplastic Aneurysms: Anatomopathological and Genetic Study Completed NCT02528149
12 A Prospective Danish National Registry of PTRA in Patients With Renovascular Hypertension Recruiting NCT02770066
13 Evaluation of a Novel Technique to Diagnose Carotid Artery Stenosis Recruiting NCT03464851
14 Prevalence and Long-term Impact of Non-atherosclerotic CAD Recruiting NCT01479140

Search NIH Clinical Center for Fibromuscular Dysplasia

Genetic Tests for Fibromuscular Dysplasia

Anatomical Context for Fibromuscular Dysplasia

MalaCards organs/tissues related to Fibromuscular Dysplasia:

42
Brain, Kidney, Heart, Bone, Lung, Colon, Smooth Muscle

Publications for Fibromuscular Dysplasia

Articles related to Fibromuscular Dysplasia:

(show top 50) (show all 843)
# Title Authors Year
1
Cervical artery dissection: fibromuscular dysplasia versus vascular Ehlers-Danlos syndrome. ( 30623691 )
2019
2
Prevalence of smoking and clinical characteristics in fibromuscular dysplasia. The ARCADIA-POL study. ( 30560699 )
2019
3
Unifocal and Multifocal Fibromuscular Dysplasia. ( 30571541 )
2019
4
Linking Spontaneous Coronary Artery Dissection, Cervical Artery Dissection, and Fibromuscular Dysplasia: Heart, Brain, and Kidneys. ( 30621953 )
2019
5
Deep Vascular Phenotyping in Patients With Renal Multifocal Fibromuscular Dysplasia. ( 30624987 )
2019
6
First international consensus on the diagnosis and management of fibromuscular dysplasia. ( 30640867 )
2019
7
First International Consensus on the diagnosis and management of fibromuscular dysplasia. ( 30648921 )
2019
8
Prevalence, Presentation, and Associated Conditions of Patients With Fibromuscular Dysplasia. ( 30678834 )
2019
9
Fibromuscular dysplasia: Beginning to see the forest through the trees. ( 30739587 )
2019
10
High incidence and clinical characteristics of fibromuscular dysplasia in patients with spontaneous cervical artery dissection: The ARCADIA-POL study. ( 30739593 )
2019
11
Ruptured superior mesenteric artery aneurysm due to fibromuscular dysplasia, a rare vascular presentation in a patient with schizophrenia. ( 30769066 )
2019
12
Seeing double: Multifocal fibromuscular dysplasia in identical twin sisters. ( 30791864 )
2019
13
Arrhythmogenic Ventricular Cardiomyopathy Associated With Fibromuscular Dysplasia of Ostial Right Main Coronary Artery. ( 30844837 )
2019
14
Endovascular Treatment of Concomitant Carotid Fibromuscular Dysplasia and Atherosclerotic Disease After Failed Open Surgical Treatment. ( 30866750 )
2019
15
Regarding the Case of Postpartum Sudden Cardiac Death After Spontaneous Coronary Artery Dissection in a Patient With Fibromuscular Dysplasia. ( 29904460 )
2018
16
Renal Artery Rupture in Association With Fibromuscular Dysplasia. ( 29568781 )
2018
17
B-Flow and B-Mode Ultrasound Imaging in Carotid Fibromuscular Dysplasia. ( 29359368 )
2018
18
Renovascular hypertension in small children-is it Takayasu arteritis or fibromuscular dysplasia? ( 29861130 )
2018
19
Imaging studies in pediatric fibromuscular dysplasia (FMD): a single-center experience. ( 29869115 )
2018
20
Renal artery fibromuscular dysplasia and its effect on the kidney. ( 29968847 )
2018
21
A refractory hypertensive patient with fibromuscular dysplasia and multicystic dysplastic kidney. ( 29796733 )
2018
22
Case - Ex-vivo aneurysm resection, autotransplantation, and aorto-renal bypass in a solitary kidney with fibromuscular dysplasia. ( 29787367 )
2018
23
Genomics of Fibromuscular Dysplasia. ( 29883369 )
2018
24
Sudden Death Due to Cystic Tumor of the Atrioventricular Node and Fibromuscular Dysplasia Involving Branches of the Coronary Arteries. ( 29095703 )
2018
25
Sequential Symptomatic Arterial Dissections in Multiple Vascular Beds in a Patient with Fibromuscular Dysplasia. ( 29709948 )
2018
26
Differences in renal hemodynamics and renin secretion between patients with unifocal and multifocal fibromuscular dysplasia. ( 29889158 )
2018
27
Fibromuscular Dysplasia: Another Paradigm Shift in Renovascular Hypertension? ( 29709956 )
2018
28
Association of Multifocal Fibromuscular Dysplasia in Elderly Patients With a More Benign Clinical Phenotype: Data From the US Registry for Fibromuscular Dysplasia. ( 29926082 )
2018
29
Comparing coronary artery fibromuscular dysplasia with coronary atherosclerosis: from clinical to histopathological characteristics. ( 29803123 )
2018
30
Safety Assessment of Endovascular Treatment of Cerebral Aneurysms in Patients with Fibromuscular Dysplasia. ( 29628950 )
2018
31
A Unique Case of Renovascular Hypertension due to Fibromuscular Dysplasia in an Extra-renal Artery. ( 29709926 )
2018
32
Low frequency of cervicocranial artery involvement in Japanese with renal artery fibromuscular dysplasia compared with that of Caucasians. ( 29679353 )
2018
33
Right Subclavian Artery Aneurysms with Fibromuscular Dysplasia. ( 29421412 )
2018
34
Histopathology of Coronary Fibromuscular Dysplasia Causing Spontaneous CoronaryA Artery Dissection. ( 29680214 )
2018
35
Fibromuscular Dysplasia ( 29630256 )
2018
36
Endovascular management of an acute type B aortic dissection in a patient with fibromuscular dysplasia. ( 29942887 )
2018
37
Abdominal Aortic Aneurysm Caused by Aortic Fibromuscular Dysplasia: A Case Report. ( 30402192 )
2018
38
Management of a pregnancy with underlying fibromuscular dysplasia with a history of stroke and carotid artery dissection. ( 30417729 )
2018
39
Management of a Pregnant Woman With Fibromuscular Dysplasia. ( 29483231 )
2018
40
Echocardiographic assessment of left ventricular morphology and function in patients with fibromuscular dysplasia: the ARCADIA-POL study. ( 29528871 )
2018
41
Fibromuscular Dysplasia: Contemporary Concepts and Future Directions. ( 29534984 )
2018
42
A Challenging Case of Fibromuscular Dysplasia in a Transgender Patient: Is There a Hormonal Link? ( 29988870 )
2018
43
Isolated carotid artery fibromuscular dysplasia unifocal type diagnosed in the postpartum period. ( 30008782 )
2018
44
Missense mutations in COL4A5 or COL4A6 genes may cause cerebrovascular fibromuscular dysplasia: Case report and literature review. ( 30045277 )
2018
45
Natural History of Cervical Artery Fibromuscular Dysplasia and Associated Neurovascular Events. ( 30064124 )
2018
46
Fibromuscular Dysplasia Presenting as a Renal Infarct. ( 30083484 )
2018
47
Renal artery fibromuscular dysplasia in Pompe disease: A case report. ( 30090700 )
2018
48
Endovascular Repair of Ruptured Hepatic Artery Pseudoaneurysm Secondary to Fibromuscular Dysplasia. ( 30114972 )
2018
49
Visceral Fibromuscular Dysplasia: From asymptomatic disorder to emergency. ( 30156710 )
2018
50
Diagnosis and management of fibromuscular dysplasia and segmental arterial mediolysis in gastroenterology field: A mini-review. ( 30166859 )
2018

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
12.44 ACE AGT AGTR1 REN TGFB1
2
Show member pathways
11.63 AGT MYLK TGFB1
3 11.1 ACE AGT AGTR1 REN
4
Show member pathways
10.92 ACE AGT AGTR1 REN TGFB1

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 ACE AGT DYNC2H1 INO80 MYLK OBSCN
2 Ino80 complex GO:0031011 8.8 INO80 YY1 YY1AP1

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of gene expression GO:0010629 9.84 ACE PGR TGFB1 YY1
2 regulation of blood pressure GO:0008217 9.67 ACE AGT REN
3 kidney development GO:0001822 9.62 ACE AGT AGTR1 REN
4 response to immobilization stress GO:0035902 9.61 REN TGFB1
5 positive regulation of blood pressure GO:0045777 9.61 ACE AGT
6 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.6 AGT TGFB1
7 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.59 AGT AGTR1
8 positive regulation of superoxide anion generation GO:0032930 9.58 AGT TGFB1
9 amyloid-beta metabolic process GO:0050435 9.58 ACE REN
10 low-density lipoprotein particle remodeling GO:0034374 9.57 AGT AGTR1
11 regulation of blood vessel diameter GO:0097746 9.56 ACE AGTR1
12 angiotensin maturation GO:0002003 9.55 ACE REN
13 positive regulation of cholesterol esterification GO:0010873 9.52 AGT AGTR1
14 positive regulation of NAD(P)H oxidase activity GO:0033864 9.51 AGT AGTR1
15 regulation of renal sodium excretion GO:0035813 9.48 AGT AGTR1
16 regulation of blood vessel diameter by renin-angiotensin GO:0002034 9.46 AGT AGTR1
17 regulation of blood volume by renin-angiotensin GO:0002016 9.43 AGT REN
18 regulation of vasoconstriction GO:0019229 9.43 ACE AGT AGTR1
19 mononuclear cell proliferation GO:0032943 9.4 ACE TGFB1
20 regulation of renal output by angiotensin GO:0002019 9.37 ACE AGT
21 positive regulation of cellular protein metabolic process GO:0032270 9.33 AGT AGTR1 TGFB1
22 regulation of systemic arterial blood pressure by renin-angiotensin GO:0003081 9.13 ACE AGT AGTR1
23 renin-angiotensin regulation of aldosterone production GO:0002018 8.8 AGT AGTR1 REN

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

# Name GO ID Score Top Affiliating Genes
1 bradykinin receptor binding GO:0031711 8.62 ACE AGTR1

Sources for Fibromuscular Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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