Arterial disorder

Summary

Arterial disorder (MONDO:0000473) is a disease (an umbrella term covering 30 Mondo subtypes) with 1 cohort gene (1 GWAS associations across 5 studies) and 25 clinical trials. Top therapeutic interventions include methylprednisolone and prednisolone.

At a glance

• Umbrella term: 30 Mondo subtypes
• Cohort genes: 1
• GWAS associations: 1
• Clinical trials: 25

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	arterial disorder
Mondo ID	MONDO:0000473
DOID	DOID:0050828
NCIT	C35317
SNOMED CT	359557001
UMLS	C0852949
MedGen	208875
Anatomy (UBERON)	UBERON:0001637
Is cancer (heuristic)	no

Also known as: arterial disease · arterial disorder · arteriopathy · artery disease · artery disease or disorder · disease of artery · disease or disorder of artery · disorder of artery

Data availability: 1 GWAS association (5 studies) · 1 GenCC gene-disease record.

Disease family

An umbrella term covering 30 Mondo subtypes.

Classification path: disease › human disease › disease by body system or component › cardiovascular disorder › vascular disorder › arterial disorder

Related subtypes (59): ischemic colitis, thrombotic disease, capillary disorder, angiodysplasia, hepatic vascular disorder, vascular hemostatic disease, vein disorder, ischemic disease, peripheral vascular disease, venous thromboembolism, ocular vascular disorder, cholesterol embolism, thoracic outlet syndrome, idiopathic spontaneous coronary artery dissection, cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, angioosteohypertrophic syndrome, Bannayan-Riley-Ruvalcaba syndrome, arterial tortuosity syndrome, hereditary arterial and articular multiple calcification syndrome, pulmonary venoocclusive disease, multiple cutaneous and mucosal venous malformations, arterial dissection-lentiginosis syndrome, patent ductus arteriosus, multisystemic smooth muscle dysfunction syndrome, STING-associated vasculopathy with onset in infancy, capillary malformation, Ehlers-Danlos syndrome, vascular-like type, calciphylaxis, neonatal Marfan syndrome, Ehlers-Danlos syndrome, vascular type, lethal arteriopathy syndrome due to fibulin-4 deficiency, congenital portosystemic shunt, arterial calcification of infancy, vasculitis, Loeys-Dietz syndrome, skin vascular disease, lymphatic malformation, familial thoracic aortic aneurysm and aortic dissection, congenital anomaly of superior vena cava, congenital anomaly of the inferior vena cava, congenital anomaly of hepatic vein, congenital renal artery stenosis, internal carotid agenesis, coronary sinus stenosis, coronary sinus atresia, vascular occlusion disorder, vascular insufficiency disorder, blood vessel neoplasm, vascular ectasia, vascular disorder of penis, fibrocartilaginous embolism, vascular malformation, lymphatic vessel neoplasm, neurovascular disorder, superior vena cava syndrome, coronary microvascular disorder, segmental arterial mediolysis, bleeding disorder, vascular-type, arterial tortuosity-bone fragility syndrome

Subtypes (30): 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, fibromuscular dysplasia, 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

Genetics & variants

GWAS landscape

1 GWAS associations across 5 studies. Top hits map to 1 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs149859005	4e-08	PRRG4	?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90473602	UK Biobank Whole-Genome Sequencing Consortium	2025	3,540	454,900	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90080055	Backman JD	2021	1,882	385,525	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90084041	Backman JD	2021	1,882	385,525	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90651648	Liu TY	2025	417	228,546	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.
GCST90726924	Kim HI	2026	141	43,885	Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	0
Tier 2: splice/UTR	1
Tier 3: regulatory	0
Tier 4: intronic/intergenic	0

MAF distribution

Bucket	Variants
common (>=0.05)	0
low_freq (0.01-0.05)	0
rare (<0.01)	0
unknown	1

Functional consequences

Consequence	Count
3_prime_UTR_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs149859005	11	32855288	G>A,T		3_prime_UTR_variant	PRRG4	4e-08	Tier 2: splice/UTR

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 7 · Orphanet: 1 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

Gene	Classification	Inheritance	Disease	Records
COL5A1	Limited	Autosomal dominant	arterial disorder	7

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
COL5A1	Orphanet:287	Classical Ehlers-Danlos syndrome

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	1

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
COL5A1	HGNC:2209	ENSG00000130635	P20908	Collagen alpha-1(V) chain	gencc

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
COL5A1	Collagen alpha-1(V) chain	Type V collagen is a member of group I collagen (fibrillar forming collagen).

Protein-family classification

Druggable: 0 · Difficult: 0 · Unknown: 1 · Druggable fraction: 0.0

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Other/Unknown	1	1.8×	0.558

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
COL5A1	Other/Unknown	no		Fib_collagen_C, Laminin_G, Collagen

Expression context

Cohort genes with no expression data: 0.

1 cohort gene are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	1
unknown	0

Top tissues across cohort

Tissue	Cohort genes
periodontal ligament	1
stromal cell of endometrium	1
tendon of biceps brachii	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
COL5A1	248	ubiquitous	marker	stromal cell of endometrium, periodontal ligament, tendon of biceps brachii

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
COL5A1	2,600

Structural data

PDB: 1 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
COL5A1	P20908	1

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 14. Enrichment computed across 1 evidence-associated genes (1 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Fibronectin matrix formation	1	571.0×	0.007	COL5A1
Attachment of bacteria to epithelial cells	1	496.5×	0.007	COL5A1
Syndecan interactions	1	423.0×	0.007	COL5A1
MET activates PTK2 signaling	1	380.7×	0.007	COL5A1
Collagen chain trimerization	1	259.6×	0.007	COL5A1
Signaling by PDGF	1	253.8×	0.007	COL5A1
NCAM1 interactions	1	248.3×	0.007	COL5A1
Developmental Lineage of Pancreatic Ductal Cells	1	228.4×	0.007	COL5A1
Assembly of collagen fibrils and other multimeric structures	1	200.3×	0.007	COL5A1
Collagen degradation	1	175.7×	0.007	COL5A1
Collagen biosynthesis and modifying enzymes	1	170.4×	0.007	COL5A1
Non-integrin membrane-ECM interactions	1	154.3×	0.007	COL5A1
ECM proteoglycans	1	150.3×	0.007	COL5A1
Integrin cell surface interactions	1	134.3×	0.007	COL5A1

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
integrin biosynthetic process	1	16852.0×	8e-04	COL5A1
negative regulation of endodermal cell differentiation	1	8426.0×	8e-04	COL5A1
tendon development	1	4213.0×	8e-04	COL5A1
eye morphogenesis	1	4213.0×	8e-04	COL5A1
collagen biosynthetic process	1	1053.2×	0.002	COL5A1
wound healing, spreading of epidermal cells	1	1053.2×	0.002	COL5A1
supramolecular fiber organization	1	1053.2×	0.002	COL5A1
skin development	1	443.5×	0.003	COL5A1
blood vessel development	1	374.5×	0.003	COL5A1
heart morphogenesis	1	374.5×	0.003	COL5A1
collagen fibril organization	1	224.7×	0.005	COL5A1
cell migration	1	61.5×	0.018	COL5A1
cell adhesion	1	37.5×	0.027	COL5A1

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 1

Druggability breadth: 1 of 1 evidence-associated genes (100%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
COL5A1	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Pharmacogenomics

Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

0 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	1	COL5A1

Undrugged target profiles

1 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
COL5A1	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 25.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	21
PHASE4	2
PHASE3	1
PHASE2	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT06040255	PHASE4	ENROLLING_BY_INVITATION	Focal Cerebral Arteriopathy Steroid Trial
NCT04061798	PHASE4	TERMINATED	ACT Guided Heparinization During Open Abdominal Aortic Aneurysm Repair.
NCT04007055	PHASE3	TERMINATED	The Value of Screening for HPR in Patients Undergoing Lower Extremity Arterial Endovascular Interventions
NCT04258046	PHASE2	COMPLETED	Trametinib in the Treatment of Complicated Extracranial Arterial Venous Malformation
NCT04511234	Not specified	RECRUITING	Sirolimus Coated Balloon Versus Standard Balloon for SFA and Popliteal Artery Disease
NCT05902923	Not specified	RECRUITING	Investigating the Safety and Clinical Performance of Eight iVascular Devices for Endovascular Intervention in Renal, Iliac or Femoral Arteries
NCT06226844	Not specified	RECRUITING	Can the BeatMove Device Help Patients With Obliterative Arterial Disease of the Lower Limbs?
NCT01570803	Not specified	WITHDRAWN	Efficacy Between Different Two Self-Expanding Nitinol Stents For The Atherosclerotic Femoro-Popliteal Arterial Disease
NCT03415880	Not specified	COMPLETED	Light Intensity Physical Activity Trial
NCT03426293	Not specified	COMPLETED	Measuring the ACT During Non-cardiac Arterial Procedures.
NCT03478709	Not specified	COMPLETED	Dynamic Arterial Elastance: an Indirect Marker of the Critical Capillary Pressure at the Microcirculatory Level
NCT03546881	Not specified	TERMINATED	Safety of Fusion Guidance During Peripheral Revascularisation
NCT03795103	Not specified	COMPLETED	Effect of a Neuromuscular Electrical Stimulation Program on Walking Capacity in Peripheral Artery Disease Patients
NCT03942445	Not specified	COMPLETED	In Vivo Analysis of Muscle Stem Cells in Chronic and Acute Lower Limb Ischemia (MyostemIschemia)
NCT03970538	Not specified	UNKNOWN	PROMISE II: Percutaneous Deep Vein Arterialization for the Treatment of Late-Stage Chronic Limb-Threatening Ischemia
NCT04150315	Not specified	UNKNOWN	Arterial Composition and Cardiovascular Outcome in DIabeteS
NCT04285411	Not specified	COMPLETED	Vital USA SpO2 Accuracy Comparison to Arterial Blood CO-Oximetry
NCT04359446	Not specified	COMPLETED	Laser-excimer Versus High-pressure Dilation to Treat Under-expansion of the Stent
NCT04428138	Not specified	UNKNOWN	Inguinal Hernia and Arterial Disease
NCT04651894	Not specified	COMPLETED	Relationship Between Digital Vascular Function Measured by EndoPAT® in elderlY Patients and Arterial Stiffness
NCT04794192	Not specified	UNKNOWN	Assessment of the Ankle Systolic Pressure Index in Patients Over 70 Years of Age With Jaundice Ulcer
NCT05054764	Not specified	UNKNOWN	Promus PREMIER Below The Knee Registry
NCT05554055	Not specified	WITHDRAWN	Correlation Between LR-ACT and Anti Xa Activity During Endovascular Surgery Procedures. AXAES (Anti Xa vs ACT-LR in Endovascular Surgery)
NCT05970926	Not specified	UNKNOWN	Normal Reference Values in Han Adults of Extremity Arterial Structure and Hemodynamics by High-frequency Ultrasound
NCT06740175	Not specified	COMPLETED	The Feasibility of Multispectral Optoacoustic Tomography in Different Diseases

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
METHYLPREDNISOLONE	4	1
PREDNISOLONE	4	1
CHEMBL5433950	0	1