MCID: FBR032
MIFTS: 42

Fibromuscular Dysplasia malady

Categories: Rare diseases, Muscle diseases

Aliases & Classifications for Fibromuscular Dysplasia

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Aliases & Descriptions for Fibromuscular Dysplasia:

Name: Fibromuscular Dysplasia 45 46 47 65
Muscular Dystrophy, Facioscapulohumeral 65
Fibromuscular Dysplasia of Arteries 45
 
Frontometaphyseal Dysplasia 65
Fmd 45

Characteristics:



Classifications:



External Ids:

UMLS65 C0016052, C0265293

Summaries for Fibromuscular Dysplasia

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NINDS:46 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 muscular dystrophy, facioscapulohumeral, is related to sympathetic ophthalmia and hemangioma, and has symptoms including renovascular hypertension, arterial fibromuscular dysplasia and intermittent claudication. An important gene associated with Fibromuscular Dysplasia is AGTR1 (Angiotensin II Receptor Type 1), and among its related pathways are Peptide hormone metabolism and Renin secretion. Affiliated tissues include brain, kidney and myeloid, and related mouse phenotypes are adipose tissue and renal/urinary system.

NIH Rare Diseases:45 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. narrowing and enlarging 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. more than one family member may be affected by the disease. the cause of fmd is unknown. treatment is based on the arteries affected and the progression and severity of the disease. last updated: 4/20/2009

Wikipedia:68 Fibromuscular dysplasia (FMD) is a non-atherosclerotic, non-inflammatory disease of the blood vessels... more...

Related Diseases for Fibromuscular Dysplasia

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Diseases related to Fibromuscular Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 441)
idRelated DiseaseScoreTop Affiliating Genes
1sympathetic ophthalmia30.3AGTR1, REN
2hemangioma30.2ACE, TGFB1
3liver disease29.7REN, SERPINA1, TGFB1
4frontometaphyseal dysplasia11.9
5facioscapulohumeral muscular dystrophy 111.3
6otopalatodigital syndrome, type i10.5
7spontaneous coronary artery dissection10.5
8breast cancer10.5
9prostatitis10.5
10otopalatodigital syndrome, type ii10.4
11melnick-needles syndrome10.4
12prostate cancer10.4
13hepatitis10.4
14leukemia10.4
15ovarian cancer10.4
16cerebritis10.4
17thyroiditis10.4
18ischemic optic neuropathy10.3ACE, AGTR1
19pediatric multiple sclerosis10.3ACE, AGT
20endotheliitis10.3
21meningococcemia10.3AGT, AGTR1
22acute myeloblastic leukemia with maturation10.3ACE, AGTR1
23bernard-soulier syndrome, type a210.3ACE, AGTR1
24parametritis10.3ACE, AGT
25lymphoma10.3
26tuberculosis10.3
27pancreatitis10.3
28neuropathy10.3
29aneurysm10.3
30hypoxia10.3
31hyposmia nasal hypoplasia hypogonadism10.3ACE, REN
32kidney cortex necrosis10.3ACE, REN
33atrial septal defect 7, with or without av conduction defects10.2ACE, REN
34primary non-gestational choriocarcinoma of ovary10.2ACE, TGFB1
35hypochromic microcytic anemia with iron overload10.2ACE, REN
36malignant hypertension10.2ACE, REN
37familial hyperthyroidism due to mutations in tsh receptor10.2AGTR1, REN
38multicentric reticulohistiocytosis10.2ACE, REN
39lung cancer10.2
40asthma10.2
41obesity10.2
42hepatitis c virus10.2
43renal cell carcinoma10.2
44arthritis10.2
45atherosclerosis10.2
46gastric cancer10.2
47hypospadias10.2
48sarcoma10.2
49hepatitis c10.2
50cervicitis10.2

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



Diseases related to fibromuscular dysplasia

Symptoms for Fibromuscular Dysplasia

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HPO human phenotypes related to Fibromuscular Dysplasia:

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

Drugs & Therapeutics for Fibromuscular Dysplasia

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Antihypertensive Agents3618
2Anticholesteremic Agents1732
3Angiotensin-Converting Enzyme Inhibitors634
4Angiotensin Receptor Antagonists1039

Interventional clinical trials:

idNameStatusNCT IDPhase
1Gadobutrol Enhanced MRA of the Renal ArteriesCompletedNCT01344460Phase 3
2Pathophysiological Mechanisms of Fibromuscular DysplasiaCompletedNCT01935752
3CAUSE Trial: Patient Specific-Cellular Characterization of Fibromuscular Dysplasia and High-Risk Atherosclerotic EndotheliumCompletedNCT01808729
4Renal Arteries Dysplastic Aneurysms: Anatomopathological and Genetic StudyCompletedNCT02528149
5Defining the Basis of Fibromuscular Dysplasia (FMD)RecruitingNCT01967511
6Assessment of Renal Artery Fibromuscular Dysplasia: From Diagnosis to TreatmentRecruitingNCT02586870
7Prevalence and Long-term Impact of Non-atherosclerotic CADRecruitingNCT01479140
8A Prospective Danish National Registry of PTRA in Patients With Renovascular HypertensionRecruitingNCT02770066

Search NIH Clinical Center for Fibromuscular Dysplasia

Genetic Tests for Fibromuscular Dysplasia

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Anatomical Context for Fibromuscular Dysplasia

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MalaCards organs/tissues related to Fibromuscular Dysplasia:

33
Brain, Kidney, Myeloid, T cells, Heart, Breast, Endothelial

Animal Models for Fibromuscular Dysplasia or affiliated genes

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MGI Mouse Phenotypes related to Fibromuscular Dysplasia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053759.0ACE, AGT, AGTR1, TGFB1
2MP:00053678.2ACE, AGT, AGTR1, REN, TGFB1
3MP:00053898.0ACE, AGT, PGR, REN, TGFB1
4MP:00053867.6ACE, AGT, AGTR1, PGR, REN, TGFB1
5MP:00053877.4ACE, AGT, AGTR1, PGR, REN, TGFB1
6MP:00107686.8ACE, AGT, AGTR1, CDIPT, PGR, REN
7MP:00053856.6ACE, AGT, AGTR1, CDIPT, PGR, REN

Publications for Fibromuscular Dysplasia

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Articles related to Fibromuscular Dysplasia:

(show top 50)    (show all 530)
idTitleAuthorsYear
1
Decreased retinal nerve fiber layer thickness in patients with congenital isolated growth hormone deficiency. (24803154)
2014
2
SMAD3 is associated with the total burden of radiographic osteoarthritis: the Chingford study. (24852296)
2014
3
Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm. (25282101)
2014
4
Co-infections with Ureaplasma parvum, Mycoplasma hominis and Chlamydia trachomatis in a human immunodeficiency virus positive woman with vaginal discharge. (23867681)
2013
5
Semipermanent eyelash extensions causing bacterial keratitis: a case report. (23769794)
2013
6
Identification of prognosis-relevant subgroups in patients with chemoresistant triple-negative breast cancer. (23549873)
2013
7
Prevention and treatment of venous thromboembolism with new oral anticoagulants: a practical update for clinicians. (23533745)
2013
8
Mogamulizumab for the treatment of adult T-cell leukemia/lymphoma. (23110261)
2012
9
Genome-wide functional screening of miR-23b as a pleiotropic modulator suppressing cancer metastasis. (22109528)
2011
10
Acinar cell carcinoma: a possible diagnosis in patients without intrapancreatic tumour. (21893434)
2011
11
Homology modeling of G-protein-coupled receptors with X-ray structures on the rise. (20443165)
2010
12
Chronic fatigue syndrome is not caused by XMRV virus, study shows. (21177733)
2010
13
A rare benign laryngeal tumor: angiomyolipoma. (21119467)
2010
14
Insertion/deletion polymorphism in the gene for angiotensin converting enzyme (ACE) in panic disorder: A gender-specific effect? (20146651)
2010
15
Indian-subcontinent NBIA: unusual phenotypes, novel PANK2 mutations, and undetermined genetic forms. (20629144)
2010
16
Clinical and angiographic findings of complete atrioventricular block in acute inferior myocardial infarction. (20372753)
2010
17
Rosai-Dorfman disease (sinus histiocytosis with massive lymphadenopathy) of the pancreas: second case report. (19020944)
2009
18
Aging is associated with greater nuclear NF kappa B, reduced I kappa B alpha, and increased expression of proinflammatory cytokines in vascular endothelial cells of healthy humans. (18782346)
2008
19
The duffy antigen/receptor for chemokines exists in an oligomeric form in living cells and functionally antagonizes CCR5 signaling through hetero-oligomerization. (18230715)
2008
20
Extending half-life in coagulation factors: where do we stand? (18929522)
2008
21
Repeated co-treatment with imipramine and amantadine induces hippocampal brain-derived neurotrophic factor gene expression in rats. (17622693)
2007
22
Familial reducing body myopathy. (16919903)
2007
23
Phosphatidylinositol 3-kinase/Akt plays a part in tumor necrosis factor-alpha-induced interleukin-6 synthesis in osteoblasts. (16981137)
2006
24
Superoxide dismutase expression attenuates cigarette smoke- or elastase-generated emphysema in mice. (16387805)
2006
25
Abnormalities in motor cortical plasticity differentiate manifesting and nonmanifesting DYT1 carriers. (17078060)
2006
26
A case of infant botulism with a possible link to infant formula milk powder: evidence for the presence of more than one strain of Clostridium botulinum in clinical specimens and food. (16014431)
2005
27
Cytokines in rheumatoid arthritis and osteoarthrosis. (16526229)
2005
28
Sensitization of cervical cancer cell lines to low-dose radiation by retinoic acid does not require functional p53. (15790450)
2005
29
hOLF44, a secreted glycoprotein with distinct expression pattern, belongs to an uncharacterized olfactomedin-like subfamily newly identified by phylogenetic analysis. (15280020)
2004
30
Effects of magnesium sulfate on traumatic brain edema in rats. (15294111)
2004
31
Hashimoto encephalopathy (autoimmune encephalitis). (17043544)
2004
32
Interleukin-1beta induces beta-calcitonin gene-related peptide secretion in human type II alveolar epithelial cells. (15319367)
2004
33
The effect of codon 98 of the FHIT gene on cervical cancer in Korean women. (14675322)
2003
34
The second largest subunit of RNA polymerase II interacts with and enhances transactivation of androgen receptor. (12593864)
2003
35
Renin-angiotensin gene polymorphism in children with uremia and essential hypertension. (12579405)
2003
36
T-gammadelta receptor restriction in peripheral lymphocytes of patients with BehAset's disease. (12918704)
2003
37
Differential binding of drugs containing the NGR motif to CD13 isoforms in tumor vessels, epithelia, and myeloid cells. (11830545)
2002
38
Interleukin-1 genetic association with periodontitis in clinical practice. (10711605)
2000
39
LIS1 is a microtubule-associated phosphoprotein. (10491172)
1999
40
Inhibitory effect of FOY-305 on liver metastasis of the pancreatic cancer]. (8886041)
1996
41
Hemimelic progressive osseous heteroplasia. A case report. (8200899)
1994
42
Pyramidal tract Wallerian degeneration and correlated symptoms in stroke. (8168577)
1994
43
Correction of fructosamine value for serum albumin and globulin concentrations. (1773712)
1991
44
The role of human interleukin-6 in B-cell isotype regulation and differentiation. (2104575)
1990
45
Legionellosis. Legionnaires' disease surveillance: England and Wales, 1989. (2386697)
1990
46
Ultrastructure of experimental intestinal invasive amebiasis. (2552849)
1989
47
Diabetic autonomic neuropathy. (387501)
1979
48
Hemoglobin constant spring (HbCS) and CS type hemoglobin H disease: a 3 family survey. (116823)
1979
49
Phenylbutazone in treatment of postoperative iritis. (13813750)
1960
50
Fox-Fordyce disease with hidradenitis suppurativa. (13563958)
1958

Variations for Fibromuscular Dysplasia

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Expression for genes affiliated with Fibromuscular Dysplasia

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Search GEO for disease gene expression data for Fibromuscular Dysplasia.

Pathways for genes affiliated with Fibromuscular Dysplasia

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GO Terms for genes affiliated with Fibromuscular Dysplasia

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

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1regulation of blood vessel size by renin-angiotensinGO:000203410.4AGT, AGTR1
2regulation of renal output by angiotensinGO:000201910.3ACE, AGT
3positive regulation of cholesterol esterificationGO:001087310.3AGT, AGTR1
4positive regulation of macrophage derived foam cell differentiationGO:001074410.2AGT, AGTR1
5blood vessel remodelingGO:000197410.2ACE, AGT
6mononuclear cell proliferationGO:003294310.2ACE, TGFB1
7positive regulation of superoxide anion generationGO:003293010.2AGT, TGFB1
8positive regulation of branching involved in ureteric bud morphogenesisGO:009019010.1AGT, TGFB1
9positive regulation of reactive oxygen species metabolic processGO:200037910.1AGT, AGTR1
10phospholipase C-activating G-protein coupled receptor signaling pathwayGO:000720010.0AGT, AGTR1
11positive regulation of inflammatory responseGO:00507299.9AGT, AGTR1
12renin-angiotensin regulation of aldosterone productionGO:00020189.9AGT, REN
13positive regulation of peptidyl-tyrosine phosphorylationGO:00507319.9AGT, TGFB1
14positive regulation of cellular protein metabolic processGO:00322709.7AGT, AGTR1, TGFB1
15female pregnancyGO:00075659.7AGT, TGFB1
16regulation of blood volume by renin-angiotensinGO:00020169.7AGT, REN
17positive regulation of fibroblast proliferationGO:00481469.7AGT, TGFB1
18regulation of cell proliferationGO:00421279.2AGT, AGTR1, TGFB1
19response to organic substanceGO:00100339.1REN, TGFB1
20regulation of vasoconstrictionGO:00192299.0ACE, AGT, AGTR1
21cellular protein metabolic processGO:00442678.7ACE, REN, SERPINA1

Sources for Fibromuscular Dysplasia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet