Aliases & Classifications for Fibromuscular Dysplasia

MalaCards integrated aliases for Fibromuscular Dysplasia:

Name: Fibromuscular Dysplasia 50 51 52 69
Fibromuscular Dysplasia of Arteries 50
Fmd 50

Characteristics:

HPO:

32
fibromuscular dysplasia:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Fibromuscular Dysplasia

NINDS : 51 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 grange syndrome and myocardial infarction, and has symptoms including stroke, myocardial infarction and aortic dissection. 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

NIH Rare Diseases : 50 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 126)
id Related Disease Score Top Affiliating Genes
1 grange syndrome 29.9 INO80 YY1 YY1AP1
2 myocardial infarction 28.8 ACE AGT AGTR1 PHACTR1 REN
3 frontometaphyseal dysplasia 11.5
4 otopalatodigital syndrome, type i 11.0
5 coronary artery dissection, spontaneous 10.9
6 otopalatodigital syndrome, type ii 10.9
7 melnick-needles syndrome 10.9
8 facioscapulohumeral muscular dystrophy 1 10.8
9 frontometaphyseal dysplasia 1 10.8
10 12q15q21.1 microdeletion syndrome 10.8 ACE TGFB1
11 frontometaphyseal dysplasia 2 10.7
12 pars planitis 10.6 ACE RNF213
13 aneurysm 10.6
14 hypothyroidism due to iodide transport defect 10.5 ACE REN
15 primary hyperoxaluria 10.4 ACE REN
16 atrial septal defect 7, with or without av conduction defects 10.4 ACE REN
17 mody, type ii 10.4 ACE REN
18 hypodontia of incisors and premolars 10.4 ACE REN
19 listeriosis 10.4 ACE REN
20 hypertrichosis of eyelid 10.3 ACE AGTR1 TGFB1
21 kidney leiomyosarcoma 10.3 PGR REN
22 pelizaeus-merzbacher-like disease 10.3 ACE AGT
23 non-congenital cyst of kidney 10.3 ACE REN
24 renovascular hypertension 10.3
25 cerebritis 10.2
26 pulmonary valve insufficiency 10.2 ACE REN TGFB1
27 cystic fibrosis and congenital absence of the vas deferens 10.2 AGTR1 REN
28 clitoris cancer 10.2 ACE AGTR1 REN
29 adams-oliver syndrome 5 10.1 ACE REN TGFB1
30 broad ligament malignant neoplasm 10.1 ACE AGTR1 REN
31 lymphadenitis 10.1 ACE AGTR1 REN
32 intracranial aneurysm 10.1
33 calcinosis 10.1 ACE REN TGFB1
34 renal clear cell carcinoma 10.1 ACE AGTR1 REN
35 voyeurism 10.1 ACE REN
36 arteriovenous fistula 10.1
37 retinitis 10.1
38 cataract, autosomal dominant congenital 4 10.0 ACE AGT AGTR1
39 aortopulmonary window 10.0 ACE AGT AGTR1
40 trichinosis 10.0 ACE AGT AGTR1
41 perrault syndrome 10.0 AGTR1 REN TGFB1
42 laryngostenosis 10.0 ACE AGT AGTR1
43 cervicitis 10.0
44 ischemia 10.0
45 joint disorders 10.0 ACE AGT AGTR1
46 thoracic spinal canal and spinal cord meningioma 10.0 ACE AGT AGTR1
47 familial isolated pituitary adenoma 10.0 AGT AGTR1
48 vasculitis 10.0
49 carotid artery dissection 10.0
50 craniosynostosis 9.9 ACE 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:

32 (show all 6)
id 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:

44
id 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 9.96 AGTR1 DYNC2H1 INO80 MYLK REN RNF213
4 homeostasis/metabolism MP:0005376 9.81 ACE AGT AGTR1 MYLK PGR REN
5 mortality/aging MP:0010768 9.7 INO80 MYLK PGR REN TGFB1 YY1
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):


id 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 11)

id Name Status NCT ID Phase Drugs
1 Gadobutrol Enhanced MRA of the Renal Arteries Completed NCT01344460 Phase 3 Gadobutrol (Gadovist, BAY86-4875)
2 Pathophysiological Mechanisms of Fibromuscular Dysplasia Completed NCT01935752
3 Cross-sectional Study of Patients With Renal or Craniocervical Fibromuscular Dysplasia Completed NCT02884141
4 CAUSE Trial: Patient Specific-Cellular Characterization of Fibromuscular Dysplasia and High-Risk Atherosclerotic Endothelium Completed NCT01808729
5 Renal Arteries Dysplastic Aneurysms: Anatomopathological and Genetic Study Completed NCT02528149
6 Defining the Basis of Fibromuscular Dysplasia (FMD) Recruiting NCT01967511
7 Assessment of Renal Artery Fibromuscular Dysplasia: From Diagnosis to Treatment Recruiting NCT02586870
8 The Study of the Prevalence Fibromuscular Dysplasia in Patient With Haematoma or Spontaneous Coronary Artery Dissection. Recruiting NCT02799186
9 A Prospective Danish National Registry of PTRA in Patients With Renovascular Hypertension Recruiting NCT02770066
10 Prevalence and Long-term Impact of Non-atherosclerotic CAD Recruiting NCT01479140
11 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:

39
Brain, Kidney, Bone, Skin, Testes, Breast, Lung

Publications for Fibromuscular Dysplasia

Articles related to Fibromuscular Dysplasia:

(show top 50) (show all 607)
id Title Authors Year
1
Presentation, clinical features, and results of intervention in upper extremity fibromuscular dysplasia. ( 28735951 )
2017
2
Prevalence of Intracranial Aneurysm in Women With Fibromuscular Dysplasia: A Report From the US Registry for Fibromuscular Dysplasia. ( 28715558 )
2017
3
Aortic fibromuscular dysplasia complicated by dissection: a case report and review of literature. ( 28910688 )
2017
4
Fibromuscular Dysplasia with Spontaneous Coronary Artery Disease Presenting as Acute Myocardial Infarction. ( 28652952 )
2017
5
Isolated intracranial fibromuscular dysplasia of the posterior cerebral artery. ( 28431954 )
2017
6
Balancing Overscreening and Underdiagnosis in Secondary Hypertension: The Case of Fibromuscular Dysplasia. ( 28411898 )
2017
7
Lateralization of renal blood flow and renin secretion in fibromuscular dysplasia. ( 28657981 )
2017
8
Intraluminal Fibrous Webs in BrachialA Artery Fibromuscular Dysplasia. ( 28823773 )
2017
9
Cerebrovascular fibromuscular dysplasia: The MGH cohort and literature review. ( 28680766 )
2017
10
Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease. ( 27939641 )
2017
11
Expanding Clinical Phenotype of Fibromuscular Dysplasia. ( 28716991 )
2017
12
Fibromuscular dysplasia (FMD). ( 28367730 )
2017
13
Pathophysiological differences between multifocal fibromuscular dysplasia and atherosclerotic renal artery stenosis. ( 28060190 )
2017
14
A Rare Presentation of Fibromuscular Dysplasia: Postpartum Vascular Catastrophe and Brief Literature Review. ( 28815187 )
2017
15
Fibromuscular Dysplasia of the Brachial Artery. ( 28076713 )
2017
16
Internal Carotid Artery Fibromuscular Dysplasia in a Child: Incidental Postmortem Finding after Head Injury. ( 28042220 )
2017
17
Carotid diaphragm: Atypical fibromuscular dysplasia or atheromatous lesions? ( 28392061 )
2017
18
Fibromuscular dysplasia: unusual cause of abdominal pain. ( 28327888 )
2017
19
Rapid contralateral progression of focal cerebral arteriopathy distinguished from RNF213-related moyamoya disease and fibromuscular dysplasia. ( 28497183 )
2017
20
High Prevalence of Multiple Arterial Bed Lesions in Patients With Fibromuscular Dysplasia: The ARCADIA Registry (Assessment of Renal and Cervical Artery Dysplasia). ( 28716989 )
2017
21
Symptomatic Carotid-Bulb Atypical Fibromuscular Dysplasia. ( 28479449 )
2017
22
Fibromuscular Dysplasia of the Coronary Arteries: A Case Report and Review of the Literature. ( 28272662 )
2017
23
Surgical revascularization of bilateral renal artery stenosis due to fibromuscular dysplasia. ( 28479775 )
2017
24
Coronary Tortuosity: A Clue to the Diagnosis of Fibromuscular Dysplasia? ( 28472222 )
2017
25
Clinical Commentary on "My Life With Fibromuscular Dysplasia: A Sword of Damocles". ( 27650351 )
2016
26
Fibromuscular Dysplasia Presented WithA Spontaneous Dissection of the LeftA Main Artery. ( 27884363 )
2016
27
Clinical characteristics and treatment of renal artery fibromuscular dysplasia with percutaneous transluminal angioplasty: a long-term follow-up study. ( 27270759 )
2016
28
Internal Carotid Artery S-Shaped Curve as a Marker of Fibromuscular Dysplasia in Dissection-Related Acute Ischemic Stroke. ( 27781048 )
2016
29
Spontaneous obliteration of spontaneous vertebral arteriovenous fistula associated with fibromuscular dysplasia after partial surgery: A case report. ( 27481913 )
2016
30
My Life With Fibromuscular Dysplasia: A Sword of Damocles. ( 27601456 )
2016
31
Epidemiology of fibromuscular dysplasia: A review of the literature. ( 27067138 )
2016
32
The Diagnosis and Treatment of Fibromuscular Dysplasia: An Update for Cardiologists. ( 27029382 )
2016
33
A case of treatable hypertension: fibromuscular dysplasia of renal arteries. ( 26724918 )
2016
34
Screening CT Angiography of the Aorta, Visceral BranchA Vessels, and Pelvic Arteries in Fibromuscular Dysplasia. ( 27665159 )
2016
35
Differences between the pediatric and adult presentation of fibromuscular dysplasia: results from the US Registry. ( 26525198 )
2016
36
Fibromuscular Dysplasia Complicated With Cerebral Stroke in a Child With Congenital Dyserythropoietic Anemia Type II. ( 27548341 )
2016
37
Forty-two-year-old female patient with resistant hypertension, bilateral renal fibromuscular dysplasia and intracranial aneurysm. ( 27980558 )
2016
38
Visceral fibromuscular dysplasia in a patient with chronic abdominal pain. ( 26675330 )
2016
39
OS 04-02 HIGH PREVALENCE OF MULTISITE FIBROMUSCULAR DYSPLASIA: THE ARCADIA REGISTRY. ( 27753918 )
2016
40
A case of posterior reversible leukoencephalopathy syndrome caused by fibromuscular dysplasia. ( 27580765 )
2016
41
[OP.1C.04] STRUCTURAL AND FUNCTIONAL ARTERIAL ABNORMALITIES IN FIBROMUSCULAR DYSPLASIA ARE IN THE CONTINUUM OF HYPERTENSION: AN IMAGING AND BIOMECHANICAL STUDY. ( 27508805 )
2016
42
Cutting Balloon Angioplasty (CBA) for the Treatment of Renal Artery Fibromuscular Dysplasia (FMD) in Six Patients: 5-Year Long-Term Results. ( 28035431 )
2016
43
Segmental arterial mediolysis and fibromuscular dysplasia: what comes first, the chicken or the egg? ( 26764144 )
2016
44
Lower Extremity Fibromuscular Dysplasia. ( 28006960 )
2016
45
Diagnosed and living with fibromuscular dysplasia: A qualitative inquiry. ( 27758900 )
2016
46
Age-related fibromuscular dysplasia in the human left ventricle papillary muscles arteries. ( 27041095 )
2016
47
Smoking and AdverseA Outcomes in Fibromuscular Dysplasia: U.S. Registry Report. ( 27056782 )
2016
48
Spontaneous hepatic artery dissection-a rare presentation of fibromuscular dysplasia. ( 28031848 )
2016
49
Renal hemodynamics and renin-angiotensin system activity in humans with multifocal renal artery fibromuscular dysplasia. ( 27032075 )
2016
50
A New Plausible Link between Lysophosphatidylcholine, TGFI^, and Fibromuscular Dysplasia. ( 27009435 )
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:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.23 ACE AGT AGTR1 REN TGFB1
2 10.74 ACE AGT AGTR1 REN

GO Terms for Fibromuscular Dysplasia

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

id Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.7 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 22)
id Name GO ID Score Top Affiliating Genes
1 regulation of blood pressure GO:0008217 9.71 ACE AGT REN
2 negative regulation of gene expression GO:0010629 9.7 PGR TGFB1 YY1
3 kidney development GO:0001822 9.67 ACE AGT AGTR1 REN
4 response to immobilization stress GO:0035902 9.61 REN TGFB1
5 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.6 AGT TGFB1
6 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.59 AGT AGTR1
7 beta-amyloid metabolic process GO:0050435 9.58 ACE REN
8 regulation of blood vessel diameter GO:0097746 9.58 ACE AGTR1
9 low-density lipoprotein particle remodeling GO:0034374 9.57 AGT AGTR1
10 positive regulation of superoxide anion generation GO:0032930 9.56 AGT TGFB1
11 positive regulation of cholesterol esterification GO:0010873 9.55 AGT AGTR1
12 positive regulation of NAD(P)H oxidase activity GO:0033864 9.51 AGT AGTR1
13 regulation of vasoconstriction GO:0019229 9.5 ACE AGT AGTR1
14 regulation of renal sodium excretion GO:0035813 9.49 AGT AGTR1
15 regulation of blood vessel diameter by renin-angiotensin GO:0002034 9.48 AGT AGTR1
16 regulation of blood volume by renin-angiotensin GO:0002016 9.46 AGT REN
17 mononuclear cell proliferation GO:0032943 9.43 ACE TGFB1
18 positive regulation of cellular protein metabolic process GO:0032270 9.43 AGT AGTR1 TGFB1
19 regulation of renal output by angiotensin GO:0002019 9.4 ACE AGT
20 angiotensin maturation GO:0002003 9.33 ACE AGT REN
21 regulation of systemic arterial blood pressure by renin-angiotensin GO:0003081 9.13 ACE AGT AGTR1
22 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:

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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