Telangiectasis

Summary

Telangiectasis (MONDO:0001576) is a disease with 1 cohort gene and 31 clinical trials. Top therapeutic interventions include brimonidine, dextrose, and polidocanol.

At a glance

• Cohort genes: 1
• ClinVar variants: 1
• Clinical trials: 31

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	telangiectasis
Mondo ID	MONDO:0001576
MeSH	D013684
DOID	DOID:1272
NCIT	C28194
SNOMED CT	247479008
UMLS	C0039446
MedGen	21088
Is cancer (heuristic)	no

Also known as: telangiectasia

Data availability: 1 ClinVar variant.

Disease family

An umbrella term covering 1 Mondo subtype.

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

Related subtypes (10): diabetic peripheral angiopathy, priapism, intermittent vascular claudication, peripheral arterial disease, mesenteric vascular occlusion, Raynaud disease, thromboangiitis obliterans, erythromelalgia, May-Thurner syndrome, livedo reticularis

Subtypes (1): hereditary hemorrhagic telangiectasia

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

1 retrieved; paginated sample, class counts are floors:

1 pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
439389	NM_000020.3(ACVRL1):c.743_744del (p.Thr248fs)	ACVRL1	Pathogenic	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 2 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
ACVRL1	Orphanet:275777	Heritable pulmonary arterial hypertension
ACVRL1	Orphanet:774	Hereditary hemorrhagic telangiectasia

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
ACVRL1	HGNC:175	ENSG00000139567	P37023	Activin receptor type-1-like	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
ACVRL1	Activin receptor type-1-like	Type I receptor for TGF-beta family ligands BMP9/GDF2 and BMP10 and important regulator of normal blood vessel development.

Protein-family classification

Druggable: 1 · Difficult: 0 · Unknown: 0 · Druggable fraction: 1.0

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
Kinase	1	27.7×	0.036

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
ACVRL1	Kinase	yes	2.7.10.2	TGFB_receptor, Prot_kinase_dom, Ser-Thr/Tyr_kinase_cat_dom

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
right lung	1
upper lobe of left lung	1
upper lobe of lung	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
ACVRL1	221	broad	marker	right lung, upper lobe of left lung, upper lobe of lung

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
ACVRL1	2,234

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
ACVRL1	P37023	7

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 3. 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
Signaling by BMP	1	356.9×	0.008	ACVRL1
Signaling by TGFB family members	1	115.3×	0.013	ACVRL1
Signal Transduction	1	10.2×	0.098	ACVRL1

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
regulation of endothelial cell proliferation	1	4213.0×	0.002	ACVRL1
negative regulation of endothelial cell differentiation	1	3370.4×	0.002	ACVRL1
venous blood vessel development	1	3370.4×	0.002	ACVRL1
regulation of blood vessel endothelial cell migration	1	2808.7×	0.002	ACVRL1
blood vessel maturation	1	2407.4×	0.002	ACVRL1
blood vessel endothelial cell proliferation involved in sprouting angiogenesis	1	2407.4×	0.002	ACVRL1
lymphatic endothelial cell differentiation	1	2407.4×	0.002	ACVRL1
dorsal aorta morphogenesis	1	2106.5×	0.002	ACVRL1
positive regulation of epithelial cell differentiation	1	1872.4×	0.002	ACVRL1
endothelial tube morphogenesis	1	1872.4×	0.002	ACVRL1
retina vasculature development in camera-type eye	1	1685.2×	0.002	ACVRL1
positive regulation of bicellular tight junction assembly	1	1685.2×	0.002	ACVRL1
positive regulation of endothelial cell differentiation	1	1532.0×	0.003	ACVRL1
artery development	1	1404.3×	0.003	ACVRL1
lymphangiogenesis	1	1203.7×	0.003	ACVRL1
wound healing, spreading of epidermal cells	1	1053.2×	0.003	ACVRL1
endocardial cushion morphogenesis	1	842.6×	0.003	ACVRL1
positive regulation of chondrocyte differentiation	1	802.5×	0.003	ACVRL1
negative regulation of endothelial cell migration	1	766.0×	0.003	ACVRL1
negative regulation of focal adhesion assembly	1	766.0×	0.003	ACVRL1
negative regulation of blood vessel endothelial cell migration	1	732.7×	0.003	ACVRL1
cellular response to BMP stimulus	1	561.7×	0.004	ACVRL1
negative regulation of endothelial cell proliferation	1	543.6×	0.004	ACVRL1
blood circulation	1	510.7×	0.004	ACVRL1
positive regulation of BMP signaling pathway	1	455.5×	0.004	ACVRL1
dorsal/ventral pattern formation	1	421.3×	0.005	ACVRL1
blood vessel remodeling	1	383.0×	0.005	ACVRL1
negative regulation of cell adhesion	1	383.0×	0.005	ACVRL1
positive regulation of SMAD protein signal transduction	1	383.0×	0.005	ACVRL1
regulation of DNA replication	1	366.4×	0.005	ACVRL1

Therapeutics

Drugs indicated or in trials for this disease

1 approved drug — disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Status
Polidocanol	Approved (phase 4)

5 drugs in clinical trials for this disease (phase 2–3, investigational): efficacy not established — a trial record, not an indication.

Drug	Highest phase
Aflibercept	Phase 3
Bevacizumab	Phase 3
Anecortave Acetate	Phase 2
Ciliary Neurotrophic Factor	Phase 2
Ranibizumab	Phase 2

Drug target analysis

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

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

Genes with an approved drug

The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.

Symbol	Example approved molecule
ACVRL1	FEDRATINIB

Top cohort targets by molecule count

Symbol	Molecules	Max phase
ACVRL1	11	4

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
FEDRATINIB	4	ACVRL1
ENTRECTINIB	4	ACVRL1
VANDETANIB	4	ACVRL1
NINTEDANIB	4	ACVRL1
DASATINIB	4	ACVRL1
ALVOCIDIB	3	ACVRL1
LESTAURTINIB	3	ACVRL1
AT-9283	2	ACVRL1
ZILURGISERTIB	2	ACVRL1
TOZASERTIB	2	ACVRL1
PF-06952229	1	ACVRL1

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 1.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
ACVRL1	213	Binding:207, Functional:3, Toxicity:2, ADMET:1

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
ACVRL1	2.7.10.2, 2.7.11.30	non-specific protein-tyrosine kinase, receptor protein serine/threonine kinase

Cohort genes with high screening signal

≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.

Symbol	ChEMBL assays
ACVRL1	213

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

11 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.

Compound	Max phase	Cohort target (bioactivity)
FEDRATINIB	4	ACVRL1
ENTRECTINIB	4	ACVRL1
VANDETANIB	4	ACVRL1
NINTEDANIB	4	ACVRL1
DASATINIB	4	ACVRL1
ALVOCIDIB	3	ACVRL1
LESTAURTINIB	3	ACVRL1
AT-9283	2	ACVRL1
ZILURGISERTIB	2	ACVRL1
TOZASERTIB	2	ACVRL1
PF-06952229	1	ACVRL1

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	1	ACVRL1
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	0

Undrugged target profiles

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

Clinical trials & evidence

Clinical trials

Clinical trials: 31.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	20
PHASE4	4
PHASE1	3
PHASE3	2
PHASE2	2

Top trials by phase / activity

NCT	Phase	Status	Title
NCT00725244	PHASE4	COMPLETED	Trial of Endoscopy Bipolar and Argon of Chronic Rectal Bleeding From Radiation Telangiectasias
NCT01362192	PHASE4	COMPLETED	Treatment of Lower Extremity Spider Veins With Excel V
NCT02657252	PHASE4	COMPLETED	Polidocanol Versus Glucose Treatment of Telangiectasia Trial
NCT02761174	PHASE4	COMPLETED	Topical Brimonidine to Reduce Inflammation After IPL-treatment in Patients With Facial Telangiectasias
NCT00406380	PHASE3	WITHDRAWN	Effect of Avastin in Juxtafoveal Telangiectasias
NCT00451763	PHASE3	COMPLETED	Intravitreal Bevacizumab for Idiopathic Macular Telangiectasia
NCT01205035	PHASE2	COMPLETED	High-Dose Lucentis (Ranibizumab 2.0mg) for the Treatment of Nonproliferative Idiopathic Parafoveal Telangiectasia
NCT02104271	PHASE2	COMPLETED	Comparison Between Two Different Parameters of Argon Plasma Coagulation in the Treatment of Chronic Radiation Proctitis: Historical Control Trial.
NCT00378196	PHASE1	COMPLETED	Ranibizumab in Idiopathic Parafoveal Telangiectasia (RIPT) Trial
NCT00457067	PHASE1	COMPLETED	Injected Ranibizumab to Treat Macular Telangiectasia With New Blood Vessel Formation
NCT00457145	PHASE1	COMPLETED	Injected Ranibizumab to Treat Macular Telangiectasia Without New Blood Vessel Formation
NCT03646955	Not specified	RECRUITING	Partial Breast Versus no Irradiation for Women With Early Breast Cancer
NCT06259292	Not specified	RECRUITING	Comprehensive HHT Outcomes Registry of the United States (CHORUS)
NCT07345195	Not specified	NOT_YET_RECRUITING	The Effect of 16-week Dietary Intake of Food Supplements Containing Collagen and MSM on Facial Erythema and Other Skin Parameters
NCT00005386	Not specified	COMPLETED	Biobehavioral Determinants of Obesity in Black Women
NCT00005392	Not specified	COMPLETED	Epidemiology of Venous Disease
NCT00206921	Not specified	UNKNOWN	Pulsed Dye Laser and Intense Pulsed Light (IPL) for the Treatment of Telangiectasia and Skin Redness
NCT01118390	Not specified	UNKNOWN	Treatment of Leg Telangiectasias With Nd:YAG 1064nm
NCT01491620	Not specified	COMPLETED	Study of the 532 nm KTP Laser for the Treatment of Poikiloderma of Civatte
NCT02090517	Not specified	WITHDRAWN	Laser Therapy Versus Electrosurgery For Nasal Telangiectasias
NCT02286804	Not specified	COMPLETED	Ultherapy for the Treatment of Spider Veins on the Legs
NCT03472859	Not specified	COMPLETED	Treatment of Dilated Blood Vessels on the Cheeks With a New Yellow Laser and a Traditional Green Laser
NCT04148950	Not specified	COMPLETED	Effects of Kinesio Taping Method on Functional Capacity and Quality of Life in Patients With Chronic Venous Disease
NCT04274842	Not specified	COMPLETED	D-OCT of Facial Telangiectasia Treated With IPL
NCT04336163	Not specified	TERMINATED	Skin Imaging to Inform Laser Treatments
NCT04795310	Not specified	COMPLETED	Clinical Observation of Pulsed Dye Laser and Intense Pulsed Light in Treating Facial Telangiectasia
NCT05036200	Not specified	COMPLETED	Pilot Study to Evaluate the Interest of PDL in the Management of Telangiectasia of the Face and Neckline in Systemic Scleroderma
NCT05860439	Not specified	COMPLETED	Lower Limb Sclerotherapy of Reticular Veins and Telangiectasias
NCT05978986	Not specified	COMPLETED	Efficiency of Determining the Clinical Class of Chronic Venous Disorders by Artificial Intelligence
NCT06582043	Not specified	COMPLETED	Evaluation of the Efficacy and Tolerance of Two Cosmetic Products in Subjects With Rosacea
NCT06962813	Not specified	COMPLETED	Transdermal Radiofrequency V ERASER Versus Polidocanol Sclerotherapy for Reticular Veins and Telangiectasias

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
BRIMONIDINE	4	4
DEXTROSE	4	1
POLIDOCANOL	4	1
CHEMBL1231723	0	1
S-ROLIPRAM	0	1