Fibromuscular dysplasia
disease diseaseOn this page
Also known as fibromuscular dysplasia of arteriesFMDA
Summary
Fibromuscular dysplasia (MONDO:0006761) is a disease (an umbrella term covering 5 Mondo subtypes) with 32 GWAS associations across 1 studies and 15 clinical trials. A subtype of arterial disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Umbrella term: 5 Mondo subtypes
- GWAS associations: 32
- Clinical trials: 15
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | fibromuscular dysplasia |
| Mondo ID | MONDO:0006761 |
| EFO | EFO:1000938 |
| MeSH | C537929, D005352 |
| OMIM | 135580 |
| Orphanet | 336, 698012 |
| ICD-11 | 280853107 |
| NCIT | C84714 |
| UMLS | C0016052 |
| MedGen | 4700 |
| GARD | 0027765 |
| MedDRA | 10054794 |
| Is cancer (heuristic) | no |
Also known as: fibromuscular dysplasia · fibromuscular dysplasia of arteries · FMDA
Data availability: 32 GWAS associations (1 study) · 31 cell lines.
Disease family
This is a subtype of arterial disorder. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by body system or component › cardiovascular disorder › vascular disorder › arterial disorder › fibromuscular dysplasia
Related subtypes (29): vertebral artery insufficiency, splenic artery aneurysm, basilar artery insufficiency, arteriosclerosis disorder, subclavian artery aneurysm, pulmonary artery choriocarcinoma, pulmonary artery leiomyosarcoma, coronary artery disorder, hypertensive disorder, carotid artery disorder, pulmonary embolism, peripheral arterial disease, hypotensive disorder, large artery stroke, aortic disorder, cervical artery dissection, anterior spinal artery syndrome, retinal arterial tortuosity, Sneddon syndrome, celiac trunk compression syndrome, pediatric arterial ischemic stroke, absence of the pulmonary artery, arterial occlusion, aberrant subclavian artery, anterior spinal artery stroke, arteritis, pulmonary artery disease, fibromuscular dysplasia, multifocal, carotid web
Subtypes (5): fibromuscular dysplasia of the cervical and intracranial arteries, fibromuscular dysplasia of the renal arteries, fibromuscular dysplasia of the coronary arteries, fibromuscular dysplasia of the visceral arteries, fibromuscular dysplasia of the arteries of the extremities
Genetics & variants
GWAS landscape
32 GWAS associations across 1 studies. Top hits map to 22 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| rs9349379 | 5e-15 | PHACTR1 | A | 1.44 |
| rs11172113 | 2e-10 | LRP1 | T | 1.34 |
| rs7301566 | 4e-09 | LIMA1 | T | 1.29 |
| rs2681492 | 2e-08 | ATP2B1 | T | 1.43 |
| rs72802873 | 1e-07 | LINC01470 | C | 0.55 |
| rs71526759 | 5e-07 | RPSAP48 - NDUFB9P3 | T | 0.44 |
| rs9508309 | 5e-07 | MTUS2 | G | 0.3 |
| rs2590784 | 6e-07 | LNX1 - RPL21P44 | T | 0.22 |
| rs199454 | 8e-07 | NSF | A | 0.26 |
| rs1777335 | 8e-07 | SVIL | C | 0.21 |
| rs61941733 | 1e-06 | Y_RNA - LINC02409 | A | 0.47 |
| rs7745460 | 1e-06 | FAM184A | G | 0.36 |
| rs7072877 | 2e-06 | RN7SKP167 - FGFR2 | T | 0.23 |
| rs1652244 | 3e-06 | FRMPD2 | G | 0.21 |
| rs10840912 | 3e-06 | Y_RNA - RERGL | T | 0.23 |
| rs2383206 | 3e-06 | CDKN2B-AS1 | G | 0.2 |
| rs4653694 | 3e-06 | EPHX1 | C | 0.31 |
| rs55980066 | 4e-06 | ZMAT4 | T | 0.2 |
| rs2424245 | 4e-06 | SLC24A3 | C | 0.32 |
| rs79341671 | 4e-06 | MAP3K7 - MIR4643 | G | 0.6 |
| rs6912572 | 5e-06 | UFL1-AS1 | C | 0.23 |
| rs11759769 | 5e-06 | FHL5 | A | 0.23 |
| rs11100901 | 5e-06 | ZNF827 | T | 0.23 |
| rs72675157 | 6e-06 | SLC25A3P1 - DMRTB1 | C | 0.83 |
| rs74637014 | 7e-06 | NUS1P2 - HMGA1P6 | C | 0.32 |
| rs41444548 | 7e-06 | TBX21 | G | 0.36 |
| rs12226396 | 7e-06 | MIR4299 - MIR8070 | C | 0.32 |
| rs11140030 | 8e-06 | FRMD3 | T | 0.27 |
| rs13198397 | 8e-06 | LINC02534 - FRK | C | 0.35 |
| rs115074093 | 9e-06 | CARMIL1 | G | 0.34 |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90026612 | Georges A | 2021 | 1,556 | 7,100 | Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases. |
Variant details and genetic-evidence tiers
Tier distribution (top 50 variants)
| Tier | Variants |
|---|---|
| Tier 1: coding | 0 |
| Tier 2: splice/UTR | 2 |
| Tier 3: regulatory | 0 |
| Tier 4: intronic/intergenic | 30 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 29 |
| low_freq (0.01-0.05) | 3 |
| rare (<0.01) | 0 |
| unknown | 0 |
Functional consequences
| Consequence | Count |
|---|---|
| intron_variant | 21 |
| intergenic_variant | 6 |
| non_coding_transcript_exon_variant | 3 |
| 3_prime_UTR_variant | 2 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs9349379 | 6 | 12903725 | A>C,G,T | 0.37 | intron_variant | PHACTR1 | 5e-15 | Tier 4: intronic/intergenic |
| rs11172113 | 12 | 57133500 | T>C,G | 0.38 | intron_variant | LRP1 | 2e-10 | Tier 4: intronic/intergenic |
| rs7301566 | 12 | 50187864 | T>A,C,G | 0.45 | non_coding_transcript_exon_variant | LIMA1 | 4e-09 | Tier 4: intronic/intergenic |
| rs2681492 | 12 | 89619312 | T>A,C,G | 0.16 | intron_variant | ATP2B1 | 2e-08 | Tier 4: intronic/intergenic |
| rs72802873 | 5 | 152859622 | G>C | 0.035 | intron_variant | LINC01470 | 1e-07 | Tier 4: intronic/intergenic |
| rs71526759 | 8 | 110484431 | C>T | 0.054 | intergenic_variant | RPSAP48 - NDUFB9P3 | 5e-07 | Tier 4: intronic/intergenic |
| rs9508309 | 13 | 29183368 | A>G | 0.139 | intron_variant | MTUS2 | 5e-07 | Tier 4: intronic/intergenic |
| rs2590784 | 4 | 53709265 | C>T | 0.345 | intron_variant | LNX1 - RPL21P44 | 6e-07 | Tier 4: intronic/intergenic |
| rs199454 | 17 | 46722744 | G>A | 0.313 | intron_variant | NSF | 8e-07 | Tier 4: intronic/intergenic |
| rs1777335 | 10 | 29703755 | C>G,T | 0.479 | intron_variant | SVIL | 8e-07 | Tier 4: intronic/intergenic |
| rs61941733 | 12 | 97212760 | G>A | 0.045 | non_coding_transcript_exon_variant | Y_RNA - LINC02409 | 1e-06 | Tier 4: intronic/intergenic |
| rs7745460 | 6 | 119075034 | A>G | 0.083 | intron_variant | FAM184A | 1e-06 | Tier 4: intronic/intergenic |
| rs7072877 | 10 | 121469146 | C>A,G,T | 0.253 | intergenic_variant | RN7SKP167 - FGFR2 | 2e-06 | Tier 4: intronic/intergenic |
| rs1652244 | 10 | 48250706 | G>A,C,T | 0.427 | intron_variant | FRMPD2 | 3e-06 | Tier 4: intronic/intergenic |
| rs10840912 | 12 | 17865410 | C>T | 0.271 | intergenic_variant | Y_RNA - RERGL | 3e-06 | Tier 4: intronic/intergenic |
| rs2383206 | 9 | 22115027 | A>G | 0.475 | intron_variant | CDKN2B-AS1 | 3e-06 | Tier 4: intronic/intergenic |
| rs4653694 | 1 | 225841073 | A>C,G,T | 0.101 | non_coding_transcript_exon_variant | EPHX1 | 3e-06 | Tier 4: intronic/intergenic |
| rs55980066 | 8 | 40760335 | C>T | 0.378 | intron_variant | ZMAT4 | 4e-06 | Tier 4: intronic/intergenic |
| rs2424245 | 20 | 19669072 | C>T | 0.135 | intron_variant | SLC24A3 | 4e-06 | Tier 4: intronic/intergenic |
| rs79341671 | 6 | 91409896 | G>A | 0.058 | intron_variant | MAP3K7 - MIR4643 | 4e-06 | Tier 4: intronic/intergenic |
| rs6912572 | 6 | 96267852 | T>A,C,G | 0.323 | intron_variant | UFL1-AS1 | 5e-06 | Tier 4: intronic/intergenic |
| rs11759769 | 6 | 96617336 | G>A | 0.236 | 3_prime_UTR_variant | FHL5 | 5e-06 | Tier 2: splice/UTR |
| rs11100901 | 4 | 145825808 | C>T | 0.221 | intron_variant | ZNF827 | 5e-06 | Tier 4: intronic/intergenic |
| rs72675157 | 1 | 53447066 | G>C | 0.017 | intron_variant | SLC25A3P1 - DMRTB1 | 6e-06 | Tier 4: intronic/intergenic |
| rs74637014 | 13 | 22971858 | C>G,T | 0.12 | intron_variant | NUS1P2 - HMGA1P6 | 7e-06 | Tier 4: intronic/intergenic |
| rs41444548 | 17 | 47733988 | C>G,T | 0.065 | intron_variant | TBX21 | 7e-06 | Tier 4: intronic/intergenic |
| rs12226396 | 11 | 11689194 | C>A,G,T | 0.126 | intergenic_variant | MIR4299 - MIR8070 | 7e-06 | Tier 4: intronic/intergenic |
| rs11140030 | 9 | 83329543 | C>A,T | 0.142 | intron_variant | FRMD3 | 8e-06 | Tier 4: intronic/intergenic |
| rs13198397 | 6 | 115782595 | C>T | 0.196 | intergenic_variant | LINC02534 - FRK | 8e-06 | Tier 4: intronic/intergenic |
| rs115074093 | 6 | 25543685 | T>G | 0.074 | intron_variant | CARMIL1 | 9e-06 | Tier 4: intronic/intergenic |
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 15.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 14 |
| PHASE1 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT03335020 | PHASE1 | WITHDRAWN | Using Ultrasonography, Shear Wave Elastography, Strain Imaging, and 3-D Volume Ultrasonography on Cardiovascular Disease |
| NCT01967511 | Not specified | RECRUITING | Defining the Basis of Fibromuscular Dysplasia (FMD) |
| NCT04804683 | Not specified | RECRUITING | European/International FMD Registry and Initiative |
| NCT04906356 | Not specified | RECRUITING | Canadian SCAD Study |
| NCT05491980 | Not specified | ACTIVE_NOT_RECRUITING | Florida Cerebrovascular Disease Biorepository and Genomics Center |
| NCT05628948 | Not specified | RECRUITING | Vascular Lab Resource (VLR) Biorepository |
| NCT06065852 | Not specified | RECRUITING | National Registry of Rare Kidney Diseases |
| NCT07526766 | Not specified | RECRUITING | A Study Of Exercise In Patients With Spontaneous Coronary Artery Dissection And Fibromuscular Dysplasia |
| NCT07529691 | Not specified | RECRUITING | Survey on Physical Activity and Qualify of Life in Fibromuscular Dysplasia |
| NCT01808729 | Not specified | COMPLETED | CAUSE Trial: Patient Specific-Cellular Characterization of Fibromuscular Dysplasia and High-Risk Atherosclerotic Endothelium |
| NCT01935752 | Not specified | COMPLETED | Pathophysiological Mechanisms of Fibromuscular Dysplasia |
| NCT02528149 | Not specified | COMPLETED | Renal Arteries Dysplastic Aneurysms: Anatomopathological and Genetic Study |
| NCT02884141 | Not specified | COMPLETED | Cross-sectional Study of Patients With Renal or Craniocervical Fibromuscular Dysplasia |
| NCT02961868 | Not specified | COMPLETED | Cohort Follow-up of Patients With Renal or Craniocervical Fibromuscular Dysplasia |
| NCT03596437 | Not specified | UNKNOWN | Study of Arterial Properties by Ultra-high Frequency Ultrasound in Fibromuscular Dysplasia and Vascular Ehlers-Danlos Syndrome |
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.