FMD
MCID: FBR032
MIFTS: 43

Fibromuscular Dysplasia (FMD) malady

Categories: Rare diseases

Aliases & Classifications for Fibromuscular Dysplasia

Aliases & Descriptions 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 myocardial infarction and frontometaphyseal dysplasia, and has symptoms including myocardial infarction, aortic dissection and stroke. An important gene associated with Fibromuscular Dysplasia is ACE (Angiotensin I Converting Enzyme), 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 behavior/neurological and cardiovascular system

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 : 71 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 112)
id Related Disease Score Top Affiliating Genes
1 myocardial infarction 29.3 ACE AGT AGTR1 PHACTR1 REN TGFB1
2 frontometaphyseal dysplasia 11.6
3 otopalatodigital syndrome, type i 11.0
4 coronary artery dissection, spontaneous 11.0
5 otopalatodigital syndrome, type ii 10.9
6 melnick-needles syndrome 10.9
7 facioscapulohumeral muscular dystrophy 1 10.8
8 aneurysm 10.6
9 penile cancer, childhood 10.3 ACE AGT
10 renovascular hypertension 10.3
11 cerebritis 10.2
12 idiopathic panuveitis 10.2 ACE TGFB1
13 hypotrichosis simplex 10.2 ACE REN
14 hyperinsulinemic hypoglycemia, familial, 3 10.2 ACE REN
15 carbohydrate metabolic disorder 10.2 ACE REN
16 hypertrichosis of eyelid 10.2 ACE AGTR1 TGFB1
17 hypothyroidism, congenital nongoitrous, 5 10.2 ACE REN
18 pars planitis 10.2 ACE RNF213
19 acute chest syndrome 10.2 ACE SERPINA1 TGFB1
20 eye degenerative disease 10.1 ACE AGT AGTR1
21 hypogonadism mitral valve prolapse mental retardation 10.1 ACE REN
22 cetp-related hyperalphalipoproteinemia 10.1 ACE AGT AGTR1
23 aplasia cutis congenita recessive 10.1 ACE AGT AGTR1
24 laryngostenosis 10.1 ACE AGT AGTR1
25 listeriosis 10.1 ACE REN
26 dientamoebiasis 10.1 ACE REN
27 cerebral convexity meningioma 10.1 ACE AGT AGTR1
28 pulmonary valve insufficiency 10.1 ACE REN TGFB1
29 schizotypal personality disorder 10.1 ACE AGT REN
30 petrositis 10.1 ACE AGTR1 REN
31 lymphadenitis 10.1 ACE AGTR1 REN
32 congenital nystagmus 10.1 ACE REN
33 preaxial polydactyly of fingers 10.1 ACE AGT AGTR1 TGFB1
34 agammaglobulinemia 6 10.1 ACE AGT AGTR1 TGFB1
35 systolic heart failure 10.1 ACE AGT AGTR1 TGFB1
36 arteriovenous fistula 10.1
37 intracranial aneurysm 10.1
38 retinitis 10.1
39 clear cell adenocarcinoma 10.1 ACE AGTR1 REN
40 ceroid lipofuscinosis, neuronal, kufs type, adult onset 10.1 ACE AGT REN
41 familial nephrotic syndrome 10.1 ACE AGT AGTR1 TGFB1
42 hemorrhagic cystitis 10.0 AGTR1 REN TGFB1
43 ischemia 10.0
44 chronic myocardial ischemia 10.0 ACE AGT REN
45 familial nasal acilia 10.0 AGT AGTR1 REN
46 cervix small cell carcinoma 10.0 ACE AGTR1 REN
47 heart valve disease 10.0 ACE AGTR1 TGFB1
48 mixed germ cell-sex cord neoplasm 10.0 ACE AGTR1 REN TGFB1
49 calcinosis 10.0 ACE AGTR1 REN TGFB1
50 cervicitis 10.0

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 myocardial infarction 32 HP:0001658
2 aortic dissection 32 HP:0002647
3 stroke 32 HP:0001297
4 renovascular hypertension 32 HP:0100817
5 intermittent claudication 32 HP:0004417
6 arterial fibromuscular dysplasia 32 HP:0005313

MGI Mouse Phenotypes related to Fibromuscular Dysplasia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.91 ACE AGT AGTR1 FLNA MYLK PGR
2 cardiovascular system MP:0005385 9.9 MYLK PGR REN RNF213 TGFB1 ACE
3 mortality/aging MP:0010768 9.65 PGR REN TGFB1 ACE AGT AGTR1
4 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
1 Gadobutrol Enhanced MRA of the Renal Arteries Completed NCT01344460 Phase 3
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, Lung, Testes, Skin, Breast

Publications for Fibromuscular Dysplasia

Articles related to Fibromuscular Dysplasia:

(show top 50) (show all 588)
id Title Authors Year
1
Internal Carotid Artery Fibromuscular Dysplasia in a Child: Incidental Postmortem Finding after Head Injury. ( 28042220 )
2017
2
Pathophysiological differences between multifocal fibromuscular dysplasia and atherosclerotic renal artery stenosis. ( 28060190 )
2017
3
Fibromuscular Dysplasia of the Brachial Artery. ( 28076713 )
2017
4
Rapid contralateral progression of focal cerebral arteriopathy distinguished from RNF213-related moyamoya disease and fibromuscular dysplasia. ( 28497183 )
2017
5
Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease. ( 27939641 )
2017
6
[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
7
Multimodality imaging of fibromuscular dysplasia. ( 27216744 )
2016
8
Spontaneous hepatic artery dissection-a rare presentation of fibromuscular dysplasia. ( 28031848 )
2016
9
Acute renal infarction resulting from fibromuscular dysplasia: a case report. ( 27159998 )
2016
10
Differences between the pediatric and adult presentation of fibromuscular dysplasia: results from the US Registry. ( 26525198 )
2016
11
Endovascular Treatment of Renal Artery Stenosis due to Fibromuscular Dysplasia - Is Stent Implantation Underused in this Circumstance? ( 27512536 )
2016
12
Screening CT Angiography of the Aorta, Visceral BranchA Vessels, and Pelvic Arteries in Fibromuscular Dysplasia. ( 27665159 )
2016
13
Fibromuscular Dysplasia Presented WithA Spontaneous Dissection of the LeftA Main Artery. ( 27884363 )
2016
14
Segmental arterial mediolysis and fibromuscular dysplasia: what comes first, the chicken or the egg? ( 26764144 )
2016
15
Horner syndrome in fibromuscular dysplasia without carotid dissection. ( 27085276 )
2016
16
Poster 63 Vertebral Artery Dissection Resulting in Cerebellar CVA after Chiropractic Manipulation in a Patient with Fibromuscular Dysplasia. ( 27672829 )
2016
17
Age-related fibromuscular dysplasia in the human left ventricle papillary muscles arteries. ( 27041095 )
2016
18
Forty-two-year-old female patient with resistant hypertension, bilateral renal fibromuscular dysplasia and intracranial aneurysm. ( 27980558 )
2016
19
Angiographic and Intracoronary Manifestations of Coronary Fibromuscular Dysplasia. ( 26957531 )
2016
20
Visceral fibromuscular dysplasia in a patient with chronic abdominal pain. ( 26675330 )
2016
21
Cutting Balloon Angioplasty (CBA) for the Treatment of Renal Artery Fibromuscular Dysplasia (FMD) in Six Patients: 5-Year Long-Term Results. ( 28035431 )
2016
22
Clinical characteristics and treatment of renal artery fibromuscular dysplasia with percutaneous transluminal angioplasty: a long-term follow-up study. ( 27270759 )
2016
23
The Diagnosis and Treatment of Fibromuscular Dysplasia: An Update for Cardiologists. ( 27029382 )
2016
24
Resistant Hypertension due to Fibromuscular Dysplasia in a Young Male: A Rare Case Report. ( 27504335 )
2016
25
Epidemiology of fibromuscular dysplasia: A review of the literature. ( 27067138 )
2016
26
Fibromuscular Dysplasia Complicated With Cerebral Stroke in a Child With Congenital Dyserythropoietic Anemia Type II. ( 27548341 )
2016
27
People Have the Power: Fibromuscular Dysplasia Complications. ( 27386772 )
2016
28
Spontaneous obliteration of spontaneous vertebral arteriovenous fistula associated with fibromuscular dysplasia after partial surgery: A case report. ( 27481913 )
2016
29
OS 04-02 HIGH PREVALENCE OF MULTISITE FIBROMUSCULAR DYSPLASIA: THE ARCADIA REGISTRY. ( 27643303 )
2016
30
Unusual lamellar calcifications in two rare cases of splenic aneurysms associated with fibromuscular dysplasia. ( 27031177 )
2016
31
PHACTR1 Is a Genetic Susceptibility Locus for Fibromuscular Dysplasia Supporting Its Complex Genetic Pattern of Inheritance. ( 27792790 )
2016
32
My Life With Fibromuscular Dysplasia: A Sword of Damocles. ( 27601456 )
2016
33
[OP.1C.04] STRUCTURAL AND FUNCTIONAL ARTERIAL ABNORMALITIES IN FIBROMUSCULAR DYSPLASIA ARE IN THE CONTINUUM OF HYPERTENSION: AN IMAGING AND BIOMECHANICAL STUDY. ( 27508805 )
2016
34
Lower Extremity Fibromuscular Dysplasia. ( 28006960 )
2016
35
Fibromuscular dysplasia: Advances in understanding and management. ( 27861117 )
2016
36
[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
37
A case of posterior reversible leukoencephalopathy syndrome caused by fibromuscular dysplasia. ( 27580765 )
2016
38
Diagnosed and living with fibromuscular dysplasia: A qualitative inquiry. ( 27758900 )
2016
39
Subarachnoid haemorrhage due to aneurysmal rupture secondary to fibromuscular dysplasia. ( 27773191 )
2016
40
Mesenteric Arteriovenous Dysplasia/Vasculopathy Is Distinct From Fibromuscular Dysplasia. ( 27487739 )
2016
41
Clinical Commentary on "My Life With Fibromuscular Dysplasia: A Sword of Damocles". ( 27650351 )
2016
42
Restenosis of renal artery fibromuscular dysplasia after percutaneous angioplasty. ( 27681247 )
2016
43
Renal Artery Stenosis in a Young Female without Fibromuscular Dysplasia with Literature Review. ( 27398034 )
2016
44
A case of treatable hypertension: fibromuscular dysplasia of renal arteries. ( 26724918 )
2016
45
Dissection and Aneurysm in Patients WithA Fibromuscular Dysplasia: Findings From the U.S. Registry for FMD. ( 27386771 )
2016
46
Renal Fibromuscular Dysplasia: A Not So Common Entity of Secondary Hypertension. ( 26970300 )
2016
47
A New Plausible Link between Lysophosphatidylcholine, TGFI^, and Fibromuscular Dysplasia. ( 27009435 )
2016
48
Revisiting Fibromuscular Dysplasia: Rationale of the European Fibromuscular Dysplasia Initiative. ( 27504007 )
2016
49
Fibromuscular Dysplasia: Looking Beyond the "String of Beads". ( 27665162 )
2016
50
Renal hemodynamics and renin-angiotensin system activity in humans with multifocal renal artery fibromuscular dysplasia. ( 27032075 )
2016

Variations for Fibromuscular Dysplasia

Expression for Fibromuscular Dysplasia

Search GEO for disease gene expression data for Fibromuscular Dysplasia.

Pathways for Fibromuscular Dysplasia

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 9.4 ACE AGT DYNC2H1 FLNA MYLK OBSCN

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

(show all 23)
id Name GO ID Score Top Affiliating Genes
1 platelet degranulation GO:0002576 9.77 FLNA SERPINA1 TGFB1
2 regulation of blood pressure GO:0008217 9.7 ACE AGT REN
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 9.61 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 vasodilation GO:0042312 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 regulation of blood vessel diameter GO:0097746 9.55 ACE AGTR1
12 positive regulation of cholesterol esterification GO:0010873 9.54 AGT AGTR1
13 positive regulation of NAD(P)H oxidase activity GO:0033864 9.51 AGT AGTR1
14 regulation of vasoconstriction GO:0019229 9.5 ACE AGT AGTR1
15 regulation of renal sodium excretion GO:0035813 9.49 AGT AGTR1
16 regulation of blood volume by renin-angiotensin GO:0002016 9.48 AGT REN
17 regulation of blood vessel diameter by renin-angiotensin GO:0002034 9.46 AGT AGTR1
18 regulation of renal output by angiotensin GO:0002019 9.43 ACE AGT
19 positive regulation of cellular protein metabolic process GO:0032270 9.43 AGT AGTR1 TGFB1
20 mononuclear cell proliferation GO:0032943 9.4 ACE TGFB1
21 angiotensin maturation GO:0002003 9.33 ACE AGT REN
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:

id Name GO ID Score Top Affiliating Genes
1 glycoprotein binding GO:0001948 9.13 FLNA SERPINA1 TGFB1
2 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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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