Aliases & Classifications for Fibromuscular Dysplasia

MalaCards integrated aliases for Fibromuscular Dysplasia:

Name: Fibromuscular Dysplasia 53 72 49 50 51 69
Fibromuscular Dysplasia of Arteries 53 72 49
Fmd 53 49
Fmda 53

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
fibromuscular dysplasia:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Fibromuscular Dysplasia

NINDS : 50 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 moyamoya disease 1, and has symptoms including myocardial infarction, aortic dissection and stroke. An important gene associated with Fibromuscular Dysplasia is SERPINA1 (Serpin Family A Member 1), and among its related pathways/superpathways are p70S6K Signaling and Renin secretion. 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 bone, and related phenotypes are cardiovascular system and behavior/neurological

OMIM : 53 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)

NIH Rare Diseases : 49 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 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 enlargement 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. The cause of FMD is unknown, however, genetic and hormonal factors may be involved. Treatment is based on the arteries affected and the progression and severity of the disease. Last updated: 8/9/2016

Wikipedia : 72 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 135)
# Related Disease Score Top Affiliating Genes
1 renovascular hypertension 30.6 ACE AGTR1 REN
2 moyamoya disease 1 30.1 DYNC2H1 OBSCN RNF213
3 aortic coarctation 29.8 ACE AGT AGTR1
4 grange syndrome 29.8 INO80 YY1 YY1AP1
5 myocardial infarction 29.2 ACE AGT AGTR1 PHACTR1 REN
6 malignant hypertension 29.0 ACE AGT AGTR1 REN
7 arteries, anomalies of 29.0 ACE AGT AGTR1 REN
8 frontometaphyseal dysplasia 11.6
9 coronary artery dissection, spontaneous 11.0
10 aneurysm 10.7
11 familial vesicoureteral reflux 10.4 ACE TGFB1
12 cerebral atherosclerosis 10.4 ACE RNF213
13 cerebritis 10.3
14 hyporeninemic hypoaldosteronism 10.3 ACE REN
15 renal artery obstruction 10.3 ACE REN
16 hypertension, diastolic 10.2 ACE REN
17 hypoaldosteronism 10.2 ACE REN
18 atrial septal defect 4 10.2 ACE REN
19 retroperitoneal leiomyosarcoma 10.2 PGR REN
20 hypertensive retinopathy 10.2 ACE REN
21 nephrosclerosis 10.2 ACE AGTR1 TGFB1
22 orthostatic proteinuria 10.2 ACE REN
23 pediatric hypertension 10.2 ACE AGT
24 frontometaphyseal dysplasia 1 10.2
25 intracranial aneurysm 10.2
26 hypertensive nephropathy 10.2 ACE AGTR1
27 episodic pain syndrome, familial, 1 10.1
28 arteriovenous fistula 10.1
29 cervicitis 10.1
30 retinitis 10.1
31 ischemia 10.1
32 congenital hepatic fibrosis 10.1 AGTR1 REN
33 ureteral disease 10.1 ACE REN TGFB1
34 renal artery disease 10.1 ACE AGTR1 REN
35 aortic valve disease 1 10.1 ACE REN TGFB1
36 renal hypertension 10.1 ACE AGTR1 REN
37 vasculitis 10.0
38 carotid artery dissection 10.0
39 urinary system disease 10.0 ACE REN TGFB1
40 renal fibrosis 10.0 AGTR1 REN TGFB1
41 diastolic heart failure 10.0 ACE AGT AGTR1
42 takayasu arteritis 10.0
43 alpha-1-antitrypsin deficiency 10.0
44 pulmonary hypertension 10.0
45 hepatitis 10.0
46 cerebral aneurysms 10.0
47 mouth disease 10.0
48 meningococcal infection 10.0 AGT AGTR1
49 giardiasis 10.0 MYLK TGFB1
50 ischemic optic neuropathy 10.0 ACE AGT AGTR1

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



Diseases related to Fibromuscular Dysplasia

Symptoms & Phenotypes for Fibromuscular Dysplasia

Symptoms via clinical synopsis from OMIM:

53
Vascular:
arterial fibromuscular dysplasia
aortic dissection

Limbs:
claudication

Cardiac:
myocardial infarction

Neuro:
stroke

GU:
hypertension due to renal artery hyperplasia


Clinical features from OMIM:

135580

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

MGI Mouse Phenotypes related to Fibromuscular Dysplasia:

43
# 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 TGFB1 YY1 ACE AGT AGTR1 CDIPT
4 homeostasis/metabolism MP:0005376 9.9 ACE AGT AGTR1 CDIPT INO80 MYLK
5 mortality/aging MP:0010768 9.7 REN TGFB1 YY1 ACE AGT AGTR1
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 12)

# 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 Not yet recruiting NCT03335020 Phase 1 Contrast-Enhanced Ultrasound
3 Pathophysiological Mechanisms of Fibromuscular Dysplasia Completed NCT01935752
4 Cross-sectional Study of Patients With Renal or Craniocervical Fibromuscular Dysplasia Completed NCT02884141
5 CAUSE Trial: Patient Specific-Cellular Characterization of Fibromuscular Dysplasia and High-Risk Atherosclerotic Endothelium Completed NCT01808729
6 Renal Arteries Dysplastic Aneurysms: Anatomopathological and Genetic Study Completed NCT02528149
7 Defining the Basis of Fibromuscular Dysplasia (FMD) Recruiting NCT01967511
8 Assessment of Renal Artery Fibromuscular Dysplasia: From Diagnosis to Treatment Recruiting NCT02586870
9 The Study of the Prevalence Fibromuscular Dysplasia in Patient With Haematoma or Spontaneous Coronary Artery Dissection. Recruiting NCT02799186
10 A Prospective Danish National Registry of PTRA in Patients With Renovascular Hypertension Recruiting NCT02770066
11 Prevalence and Long-term Impact of Non-atherosclerotic CAD Recruiting NCT01479140
12 Cohort Follow-up of Patients With Renal or Craniocervical Fibromuscular Dysplasia Active, not recruiting NCT02961868

Search NIH Clinical Center for Fibromuscular Dysplasia

Genetic Tests for Fibromuscular Dysplasia

Anatomical Context for Fibromuscular Dysplasia

MalaCards organs/tissues related to Fibromuscular Dysplasia:

38
Brain, Kidney, Bone, Skin, Colon, Testes, Atrioventricular Node

Publications for Fibromuscular Dysplasia

Articles related to Fibromuscular Dysplasia:

(show top 50) (show all 617)
# Title Authors Year
1
B-Flow and B-Mode Ultrasound Imaging in Carotid Fibromuscular Dysplasia. ( 29359368 )
2018
2
Right Subclavian Artery Aneurysms with Fibromuscular Dysplasia. ( 29421412 )
2018
3
Sudden Death Due to Cystic Tumor of the Atrioventricular Node and Fibromuscular Dysplasia Involving Branches of the Coronary Arteries. ( 29095703 )
2018
4
Lateralization of renal blood flow and renin secretion in fibromuscular dysplasia. ( 28657981 )
2017
5
Intraluminal Fibrous Webs in BrachialA Artery Fibromuscular Dysplasia. ( 28823773 )
2017
6
Colonic Adventitial Fibromuscular Dysplasia: A Nonspecific Arteriopathy Associated With Hirschsprung Disease and Other Obstructive Disorders. ( 29108502 )
2017
7
Coronary Tortuosity: A Clue to the Diagnosis of Fibromuscular Dysplasia? ( 28472222 )
2017
8
High Prevalence of Multiple Arterial Bed Lesions in Patients With Fibromuscular Dysplasia: The ARCADIA Registry (Assessment of Renal and Cervical Artery Dysplasia). ( 28716989 )
2017
9
Fibromuscular dysplasia (FMD). ( 28367730 )
2017
10
Balancing Overscreening and Underdiagnosis in Secondary Hypertension: The Case of Fibromuscular Dysplasia. ( 28411898 )
2017
11
Prevalence of Intracranial Aneurysm in Women With Fibromuscular Dysplasia: A Report From the US Registry for Fibromuscular Dysplasia. ( 28715558 )
2017
12
Rapid contralateral progression of focal cerebral arteriopathy distinguished from RNF213-related moyamoya disease and fibromuscular dysplasia. ( 28497183 )
2017
13
Presentation, clinical features, and results of intervention in upper extremity fibromuscular dysplasia. ( 28735951 )
2017
14
Fibromuscular Dysplasia with Spontaneous Coronary Artery Disease Presenting as Acute Myocardial Infarction. ( 28652952 )
2017
15
Symptomatic Carotid-Bulb Atypical Fibromuscular Dysplasia. ( 28479449 )
2017
16
Aortic fibromuscular dysplasia complicated by dissection: a case report and review of literature. ( 28910688 )
2017
17
Carotid diaphragm: Atypical fibromuscular dysplasia or atheromatous lesions? ( 28392061 )
2017
18
All quiet on the front of fibromuscular dysplasia? ( 29067889 )
2017
19
Surgical revascularization of bilateral renal artery stenosis due to fibromuscular dysplasia. ( 28479775 )
2017
20
Fibromuscular dysplasia: unusual cause of abdominal pain. ( 28327888 )
2017
21
Internal Carotid Artery Fibromuscular Dysplasia in a Child: Incidental Postmortem Finding after Head Injury. ( 28042220 )
2017
22
Cerebrovascular fibromuscular dysplasia: The MGH cohort and literature review. ( 28680766 )
2017
23
A Rare Presentation of Fibromuscular Dysplasia: Postpartum Vascular Catastrophe and Brief Literature Review. ( 28815187 )
2017
24
Isolated intracranial fibromuscular dysplasia of the posterior cerebral artery. ( 28431954 )
2017
25
Multi-modality imaging evaluation of recurrent Tako-tsubo syndrome in a patient with coronary artery fibromuscular dysplasia. ( 29187206 )
2017
26
Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease. ( 27939641 )
2017
27
Cervical Arterial Fibromuscular Dysplasia in a Biethnic Population: A Retrospective Study in the U.S.-Mexican Border. ( 29142493 )
2017
28
Fibromuscular Dysplasia of the Coronary Arteries: A Case Report and Review of the Literature. ( 28272662 )
2017
29
Expanding Clinical Phenotype of Fibromuscular Dysplasia. ( 28716991 )
2017
30
A rare case report of bilateral common and internal iliac arterial fibromuscular dysplasia: Coexisted dissection, aneurysm, and stenosis. ( 29390277 )
2017
31
Fibromuscular Dysplasia of the Brachial Artery. ( 28076713 )
2017
32
Pathophysiological differences between multifocal fibromuscular dysplasia and atherosclerotic renal artery stenosis. ( 28060190 )
2017
33
Carotid Web (Intimal Fibromuscular Dysplasia) Has High Stroke Recurrence Risk and Is Amenable to Stenting. ( 29018133 )
2017
34
Postpartum Sudden Cardiac Death After Spontaneous Coronary Artery Dissection in a Patient With Fibromuscular Dysplasia. ( 29317976 )
2017
35
[OP.1C.04] STRUCTURAL AND FUNCTIONAL ARTERIAL ABNORMALITIES IN FIBROMUSCULAR DYSPLASIA ARE IN THE CONTINUUM OF HYPERTENSION: AN IMAGING AND BIOMECHANICAL STUDY. ( 27508805 )
2016
36
Visceral fibromuscular dysplasia in a patient with chronic abdominal pain. ( 26675330 )
2016
37
[OP.5A.04] EVALUATION OF RETINAL MICROPERFUSION AND ARTERIOLAR STRUCTURE IN PATIENTS WITH FIBROMUSCULAR DYSPLASIA. THE PRELIMINARY DATA OF THE POLISH REGISTRY FOR FIBROMUSCULAR DYSPLASIA. ( 27508731 )
2016
38
Smoking and AdverseA Outcomes in Fibromuscular Dysplasia: U.S. Registry Report. ( 27056782 )
2016
39
Differences between the pediatric and adult presentation of fibromuscular dysplasia: results from the US Registry. ( 26525198 )
2016
40
OS 04-02 HIGH PREVALENCE OF MULTISITE FIBROMUSCULAR DYSPLASIA: THE ARCADIA REGISTRY. ( 27643303 )
2016
41
Resistant Hypertension due to Fibromuscular Dysplasia in a Young Male: A Rare Case Report. ( 27504335 )
2016
42
[OP.1C.05] THE POLISH REGISTRY FOR FIBROMUSCULAR DYSPLASIA - THE PRELIMINARY REPORT ON DISTRIBUTION OF VASCULAR BED INVOLVEMENT AND COMPLICATIONS IN PATIENTS ENROLLED IN ARCADIA-POL STUDY. ( 27508830 )
2016
43
Internal Carotid Artery S-Shaped Curve as a Marker of Fibromuscular Dysplasia in Dissection-Related Acute Ischemic Stroke. ( 27781048 )
2016
44
Mesenteric Arteriovenous Dysplasia/Vasculopathy Is Distinct From Fibromuscular Dysplasia. ( 27487739 )
2016
45
Fibromuscular Dysplasia: Looking Beyond the "String of Beads". ( 27665162 )
2016
46
Renal Artery Stenosis in a Young Female without Fibromuscular Dysplasia with Literature Review. ( 27398034 )
2016
47
Forty-two-year-old female patient with resistant hypertension, bilateral renal fibromuscular dysplasia and intracranial aneurysm. ( 27980558 )
2016
48
A New Plausible Link between Lysophosphatidylcholine, TGFI^, and Fibromuscular Dysplasia. ( 27009435 )
2016
49
Renal hemodynamics and renin-angiotensin system activity in humans with multifocal renal artery fibromuscular dysplasia. ( 27032075 )
2016
50
Acute renal infarction resulting from fibromuscular dysplasia: a case report. ( 27159998 )
2016

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
12.43 ACE AGT AGTR1 REN TGFB1
2 11.07 ACE AGT AGTR1 REN
3
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 9.73 ACE AGT DYNC2H1 MYLK OBSCN PGR
2 Ino80 complex GO:0031011 8.8 INO80 YY1 YY1AP1

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 regulation of blood pressure GO:0008217 9.7 ACE AGT REN
2 kidney development GO:0001822 9.67 ACE AGT AGTR1 REN
3 response to immobilization stress GO:0035902 9.6 REN TGFB1
4 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.59 AGT TGFB1
5 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.58 AGT AGTR1
6 amyloid-beta metabolic process GO:0050435 9.58 ACE REN
7 regulation of blood vessel diameter GO:0097746 9.57 ACE AGTR1
8 positive regulation of superoxide anion generation GO:0032930 9.56 AGT TGFB1
9 low-density lipoprotein particle remodeling GO:0034374 9.55 AGT AGTR1
10 positive regulation of cholesterol esterification GO:0010873 9.54 AGT AGTR1
11 positive regulation of NAD(P)H oxidase activity GO:0033864 9.51 AGT AGTR1
12 regulation of vasoconstriction GO:0019229 9.5 ACE AGT AGTR1
13 regulation of blood vessel diameter by renin-angiotensin GO:0002034 9.49 AGT AGTR1
14 regulation of blood volume by renin-angiotensin GO:0002016 9.48 AGT REN
15 regulation of renal sodium excretion GO:0035813 9.46 AGT AGTR1
16 regulation of renal output by angiotensin GO:0002019 9.43 ACE AGT
17 positive regulation of cellular protein metabolic process GO:0032270 9.43 AGT AGTR1 TGFB1
18 mononuclear cell proliferation GO:0032943 9.4 ACE TGFB1
19 angiotensin maturation GO:0002003 9.33 ACE AGT REN
20 regulation of systemic arterial blood pressure by renin-angiotensin GO:0003081 9.13 ACE AGT AGTR1
21 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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