Aliases & Classifications for Fibromuscular Dysplasia

MalaCards integrated aliases for Fibromuscular Dysplasia:

Name: Fibromuscular Dysplasia 57 76 53 54 55 73
Fibromuscular Dysplasia of Arteries 57 76 53
Fmd 57 53
Fmda 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
fibromuscular dysplasia:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Fibromuscular Dysplasia

NINDS : 54 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. An important gene associated with Fibromuscular Dysplasia is SERPINA1 (Serpin Family A Member 1), 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 bone, and related phenotypes are stroke and myocardial infarction

NIH Rare Diseases : 53 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.

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)

Wikipedia : 76 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 143)
# Related Disease Score Top Affiliating Genes
1 renovascular hypertension 30.7 ACE AGTR1 REN
2 moyamoya disease 1 30.3 DYNC2H1 OBSCN RNF213
3 aortic coarctation 30.0 ACE AGT AGTR1
4 grange syndrome 29.9 INO80 YY1 YY1AP1
5 malignant hypertension 28.7 ACE AGT AGTR1 REN
6 arteries, anomalies of 28.7 ACE AGT AGTR1 REN
7 myocardial infarction 28.6 ACE AGT AGTR1 PHACTR1 REN
8 frontometaphyseal dysplasia 11.6
9 otopalatodigital syndrome, type i 11.1
10 facioscapulohumeral muscular dystrophy 1 11.1
11 frontometaphyseal dysplasia 1 11.1
12 coronary artery dissection, spontaneous 11.0
13 otopalatodigital syndrome, type ii 11.0
14 melnick-needles syndrome 11.0
15 aneurysm 10.7
16 familial vesicoureteral reflux 10.7 ACE TGFB1
17 cerebral atherosclerosis 10.6 ACE RNF213
18 hyporeninemic hypoaldosteronism 10.5 ACE REN
19 renal artery obstruction 10.4 ACE REN
20 hypoaldosteronism 10.4 ACE REN
21 hypertensive encephalopathy 10.4 ACE REN
22 retroperitoneal leiomyosarcoma 10.4 PGR REN
23 cerebritis 10.4
24 hypertensive retinopathy 10.3 ACE REN
25 nephrosclerosis 10.3 ACE AGTR1 TGFB1
26 pediatric hypertension 10.3 ACE AGT
27 hypertension, diastolic 10.3 ACE REN
28 hypertensive nephropathy 10.2 ACE AGTR1
29 orthostatic proteinuria 10.2 ACE REN
30 congenital hepatic fibrosis 10.2 AGTR1 REN
31 intracranial aneurysm 10.2
32 cervicitis 10.2
33 atrial septal defect 4 10.1 ACE REN
34 ureteral disease 10.1 ACE REN TGFB1
35 arteriovenous fistula 10.1
36 retinitis 10.1
37 renal artery disease 10.1 ACE AGTR1 REN
38 aortic valve disease 1 10.1 ACE REN TGFB1
39 renal hypertension 10.1 ACE AGTR1 REN
40 ischemia 10.1
41 cerebral aneurysms 10.1
42 urinary system disease 10.1 ACE REN TGFB1
43 takayasu arteritis 10.0
44 vasculitis 10.0
45 carotid artery dissection 10.0
46 familial hypertension 10.0 AGT AGTR1
47 renal fibrosis 10.0 AGTR1 REN TGFB1
48 diastolic heart failure 10.0 ACE AGT AGTR1
49 cardiac conduction defect 10.0
50 alpha-1-antitrypsin deficiency 10.0

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:

57
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:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 stroke 32 HP:0001297
2 myocardial infarction 32 HP:0001658
3 aortic dissection 32 HP:0002647
4 intermittent claudication 32 HP:0004417
5 arterial fibromuscular dysplasia 32 HP:0005313
6 renovascular hypertension 32 HP:0100817

MGI Mouse Phenotypes related to Fibromuscular Dysplasia:

46
# 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 AGT AGTR1 DYNC2H1 MYLK REN TGFB1

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 13)
# 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 Prevalence and Long-term Impact of Non-atherosclerotic CAD Unknown status NCT01479140
4 Pathophysiological Mechanisms of Fibromuscular Dysplasia Completed NCT01935752 Not Applicable
5 Cross-sectional Study of Patients With Renal or Craniocervical Fibromuscular Dysplasia Completed NCT02884141
6 Cohort Follow-up of Patients With Renal or Craniocervical Fibromuscular Dysplasia Completed NCT02961868 Not Applicable
7 CAUSE Trial: Patient Specific-Cellular Characterization of Fibromuscular Dysplasia and High-Risk Atherosclerotic Endothelium Completed NCT01808729
8 Renal Arteries Dysplastic Aneurysms: Anatomopathological and Genetic Study Completed NCT02528149
9 Defining the Basis of Fibromuscular Dysplasia (FMD) Recruiting NCT01967511
10 Assessment of Renal Artery Fibromuscular Dysplasia: From Diagnosis to Treatment Recruiting NCT02586870 Not Applicable
11 The Study of the Prevalence Fibromuscular Dysplasia in Patient With Haematoma or Spontaneous Coronary Artery Dissection. Recruiting NCT02799186 Not Applicable
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 Not Applicable

Search NIH Clinical Center for Fibromuscular Dysplasia

Genetic Tests for Fibromuscular Dysplasia

Anatomical Context for Fibromuscular Dysplasia

MalaCards organs/tissues related to Fibromuscular Dysplasia:

41
Brain, Kidney, Bone, Skin, Testes, Atrioventricular Node, Breast

Publications for Fibromuscular Dysplasia

Articles related to Fibromuscular Dysplasia:

(show top 50) (show all 661)
# Title Authors Year
1
Regarding the Case of Postpartum Sudden Cardiac Death After Spontaneous Coronary Artery Dissection in a Patient With Fibromuscular Dysplasia. ( 29904460 )
2018
2
Renal Artery Rupture in Association With Fibromuscular Dysplasia. ( 29568781 )
2018
3
B-Flow and B-Mode Ultrasound Imaging in Carotid Fibromuscular Dysplasia. ( 29359368 )
2018
4
Renovascular hypertension in small children-is it Takayasu arteritis or fibromuscular dysplasia? ( 29861130 )
2018
5
Imaging studies in pediatric fibromuscular dysplasia (FMD): a single-center experience. ( 29869115 )
2018
6
Renal artery fibromuscular dysplasia and its effect on the kidney. ( 29968847 )
2018
7
A refractory hypertensive patient with fibromuscular dysplasia and multicystic dysplastic kidney. ( 29796733 )
2018
8
Case - Ex-vivo aneurysm resection, autotransplantation, and aorto-renal bypass in a solitary kidney with fibromuscular dysplasia. ( 29787367 )
2018
9
Genomics of Fibromuscular Dysplasia. ( 29883369 )
2018
10
Sudden Death Due to Cystic Tumor of the Atrioventricular Node and Fibromuscular Dysplasia Involving Branches of the Coronary Arteries. ( 29095703 )
2018
11
Sequential Symptomatic Arterial Dissections in Multiple Vascular Beds in a Patient with Fibromuscular Dysplasia. ( 29709948 )
2018
12
Differences in renal hemodynamics and renin secretion between patients with unifocal and multifocal fibromuscular dysplasia. ( 29889158 )
2018
13
Fibromuscular Dysplasia: Another Paradigm Shift in Renovascular Hypertension? ( 29709956 )
2018
14
Association of Multifocal Fibromuscular Dysplasia in Elderly Patients With a More Benign Clinical Phenotype: Data From the US Registry for Fibromuscular Dysplasia. ( 29926082 )
2018
15
Comparing coronary artery fibromuscular dysplasia with coronary atherosclerosis: from clinical to histopathological characteristics. ( 29803123 )
2018
16
Safety Assessment of Endovascular Treatment of Cerebral Aneurysms in Patients with Fibromuscular Dysplasia. ( 29628950 )
2018
17
A Unique Case of Renovascular Hypertension due to Fibromuscular Dysplasia in an Extra-renal Artery. ( 29709926 )
2018
18
Low frequency of cervicocranial artery involvement in Japanese with renal artery fibromuscular dysplasia compared with that of Caucasians. ( 29679353 )
2018
19
Right Subclavian Artery Aneurysms with Fibromuscular Dysplasia. ( 29421412 )
2018
20
Histopathology of Coronary Fibromuscular Dysplasia Causing Spontaneous CoronaryA Artery Dissection. ( 29680214 )
2018
21
Fibromuscular Dysplasia ( 29630256 )
2018
22
Endovascular management of an acute type B aortic dissection in a patient with fibromuscular dysplasia. ( 29942887 )
2018
23
Fibromuscular dysplasia: unusual cause of abdominal pain. ( 28327888 )
2017
24
Coronary Tortuosity: A Clue to the Diagnosis of Fibromuscular Dysplasia? ( 28472222 )
2017
25
Fibromuscular Dysplasia with Spontaneous Coronary Artery Disease Presenting as Acute Myocardial Infarction. ( 28652952 )
2017
26
Multi-modality imaging evaluation of recurrent Tako-tsubo syndrome in a patient with coronary artery fibromuscular dysplasia. ( 29187206 )
2017
27
Rapid contralateral progression of focal cerebral arteriopathy distinguished from RNF213-related moyamoya disease and fibromuscular dysplasia. ( 28497183 )
2017
28
Fibromuscular dysplasia in an adult male as a cause of renal artery stenosis and secondary hypertension treated with renal artery stenting. ( 29622959 )
2017
29
Aortic fibromuscular dysplasia complicated by dissection: a case report and review of literature. ( 28910688 )
2017
30
Fibromuscular Dysplasia of the Brachial Artery. ( 28076713 )
2017
31
Fibromuscular dysplasia (FMD). ( 28367730 )
2017
32
All quiet on the front of fibromuscular dysplasia? ( 29067889 )
2017
33
Presentation, clinical features, and results of intervention in upper extremity fibromuscular dysplasia. ( 28735951 )
2017
34
Balancing Overscreening and Underdiagnosis in Secondary Hypertension: The Case of Fibromuscular Dysplasia. ( 28411898 )
2017
35
Symptomatic Carotid-Bulb Atypical Fibromuscular Dysplasia. ( 28479449 )
2017
36
High Prevalence of Multiple Arterial Bed Lesions in Patients With Fibromuscular Dysplasia: The ARCADIA Registry (Assessment of Renal and Cervical Artery Dysplasia). ( 28716989 )
2017
37
Carotid diaphragm: Atypical fibromuscular dysplasia or atheromatous lesions? ( 28392061 )
2017
38
Prevalence of Intracranial Aneurysm in Women With Fibromuscular Dysplasia: A Report From the US Registry for Fibromuscular Dysplasia. ( 28715558 )
2017
39
A Rare Presentation of Fibromuscular Dysplasia: Postpartum Vascular Catastrophe and Brief Literature Review. ( 28815187 )
2017
40
Lateralization of renal blood flow and renin secretion in fibromuscular dysplasia. ( 28657981 )
2017
41
Carotid Web (Intimal Fibromuscular Dysplasia) Has High Stroke Recurrence Risk and Is Amenable to Stenting. ( 29018133 )
2017
42
Surgical revascularization of bilateral renal artery stenosis due to fibromuscular dysplasia. ( 28479775 )
2017
43
Postpartum Sudden Cardiac Death After Spontaneous Coronary Artery Dissection in a Patient With Fibromuscular Dysplasia. ( 29317976 )
2017
44
Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease. ( 27939641 )
2017
45
Cervical Arterial Fibromuscular Dysplasia in a Biethnic Population: A Retrospective Study in the U.S.-Mexican Border. ( 29142493 )
2017
46
Fibromuscular Dysplasia of the Coronary Arteries: A Case Report and Review of the Literature. ( 28272662 )
2017
47
Expanding Clinical Phenotype of Fibromuscular Dysplasia. ( 28716991 )
2017
48
Internal Carotid Artery Fibromuscular Dysplasia in a Child: Incidental Postmortem Finding after Head Injury. ( 28042220 )
2017
49
Pathophysiological differences between multifocal fibromuscular dysplasia and atherosclerotic renal artery stenosis. ( 28060190 )
2017
50
Cerebrovascular fibromuscular dysplasia: The MGH cohort and literature review. ( 28680766 )
2017

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
Show member pathways
11.63 AGT MYLK TGFB1
3 11.07 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 9.73 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 positive regulation of superoxide anion generation GO:0032930 9.58 AGT TGFB1
7 amyloid-beta metabolic process GO:0050435 9.57 ACE REN
8 regulation of blood vessel diameter GO:0097746 9.56 ACE AGTR1
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 renal sodium excretion GO:0035813 9.49 AGT AGTR1
14 regulation of blood vessel diameter by renin-angiotensin GO:0002034 9.48 AGT AGTR1
15 regulation of blood volume by renin-angiotensin GO:0002016 9.46 AGT REN
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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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