Disease · MONDO_0024291

vascular malformation

6 sourcesdiseases-2026-09-18-0.1.0

Cite this record

ConductScience Library. vascular malformation. Diseases, record MONDO_0024291. Release diseases-2026-09-18-0.1.0, 18 Sept 2026. https://conductscience.org/library/diseases/MONDO_0024291

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Disease

Names and IDs as Open Targets gives them. Its IDs in MeSH, Orphanet, the Disease Ontology and the NCI Thesaurus are those Open Targets states for it.

Name: vascular malformation; Open Targets
Open Targets ID: MONDO_0024291; Open Targets
MeSH: D054079; MeSH
Highest stage of its drugs: Approval, for 1 of its 6 drugs, from PMDA; Open Targets

Drugs6

The drugs Open Targets' clinical reports study for the disease, the highest stage first, then the most trial reports. The stage is Open Targets', the highest any of its sources reports for the pair, and each row names the sources that report it.

Drug	ChEMBL ID	Type	Open Targets' stage	Stage reported by	Reports	Of them trials	Trials shown here	Source
SIROLIMUS	CHEMBL413	Small molecule	Approval	PMDA	6	4	4	Drugs and targets
THALIDOMIDE	CHEMBL468	Small molecule	Phase 3	ClinicalTrials.gov	1	1	1	Drugs and targets
EVEROLIMUS	CHEMBL1908360	Small molecule	Phase 2	ClinicalTrials.gov	2	2	2	Drugs and targets
ALPELISIB	CHEMBL2396661	Small molecule	Phase 2	ClinicalTrials.gov	1	1	1	Drugs and targets
MIRDAMETINIB	CHEMBL507361	Small molecule	Phase 2	ClinicalTrials.gov	1	1	1	Drugs and targets
TIMOLOL MALEATE	CHEMBL1200870	Small molecule	Phase 1/2	ClinicalTrials.gov	1	1	1	Drugs and targets

Targets10

The targets ChEMBL's mechanism records give for the disease's drugs, through Open Targets, the most drugs first. A mechanism record says what a drug acts on, not that the target causes the disease.

Target	Protein	Its drugs that act on it	Mechanisms	Highest stage of those drugs	Gene in Genes	Source
FKBP1A	Peptidyl-prolyl cis-trans isomerase FKBP1A	2	FK506-binding protein 1A inhibitor	Approval	https://conductscience.org/library/genes/2280	Drugs and targets
ADRB1	Beta-1 adrenergic receptor	1	Beta-1 adrenergic receptor antagonist	Phase 1/2	https://conductscience.org/library/genes/153	Drugs and targets
ADRB2	Beta-2 adrenergic receptor	1	Beta-2 adrenergic receptor antagonist	Phase 1/2	https://conductscience.org/library/genes/154	Drugs and targets
CRBN	CRL4(CRBN) E3 ubiquitin ligase	1	CRL4(CRBN) E3 ubiquitin ligase inhibitor	Phase 3	https://conductscience.org/library/genes/51185	Drugs and targets
CUL4A	CRL4(CRBN) E3 ubiquitin ligase	1	CRL4(CRBN) E3 ubiquitin ligase inhibitor	Phase 3	https://conductscience.org/library/genes/8451	Drugs and targets
DDB1	CRL4(CRBN) E3 ubiquitin ligase	1	CRL4(CRBN) E3 ubiquitin ligase inhibitor	Phase 3	https://conductscience.org/library/genes/1642	Drugs and targets
MAP2K1	Dual specificity mitogen-activated protein kinase kinase 1	1	Dual specificity mitogen-activated protein kinase kinase 1 inhibitor	Phase 2	https://conductscience.org/library/genes/5604	Drugs and targets
MAP2K2	Dual specificity mitogen-activated protein kinase kinase 2	1	Dual specificity mitogen-activated protein kinase kinase 2 inhibitor	Phase 2	https://conductscience.org/library/genes/5605	Drugs and targets
PIK3CA	Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	1	PI3-kinase p110-alpha subunit inhibitor	Phase 2	https://conductscience.org/library/genes/5290	Drugs and targets
RBX1	CRL4(CRBN) E3 ubiquitin ligase	1	CRL4(CRBN) E3 ubiquitin ligase inhibitor	Phase 3	https://conductscience.org/library/genes/9978	Drugs and targets

Trials9

Trials an Open Targets clinical report links to the disease, posted results first, then the largest. A trial is shown when the release's checks confirm its link to the disease and Drugs and targets shows its link to one of the disease's drugs.

Trial	Title	Phase	Participants	Results first posted	Conditions	Drugs	Linked by	Source
NCT01752049	Topical Anti-angiogenic Therapy for Telangiectasia in HHT: Proof of Concept	Phase 1/2	5	2023-09-21	Hereditary Hemorrhagic Telangiectasia	TIMOLOL MALEATE	Open Targets' reading of its record	ClinicalTrials.gov
NCT02638389	Efficacy and Safety of Sirolimus in Vascular Anomalies That Are Refractory to Standard Care	Phase 3	250		Vascular Malformations	SIROLIMUS	Its record names the disease	ClinicalTrials.gov
NCT02707484	the Efficiency of Thalidomide for Recurrent Small Intestinal Bleeding Due to Gastrointestinal Vascular Malformation	Phase 3	150		Gastrointestinal Vascular Malformation	THALIDOMIDE	Open Targets' reading, confirmed by NLM's indexing of its papers	ClinicalTrials.gov
NCT03583307	Efficacy and Safety of Sirolimus to Vascular Anomalies	Not applicable	126		Vascular Anomaly	SIROLIMUS	Open Targets' reading, confirmed by NLM's indexing of its papers	ClinicalTrials.gov
NCT03987152	Treatment of Congenital Vascular Malformations Using Sirolimus: Improving Quality of Life	Phase 3	75		Vascular Malformations	SIROLIMUS	Open Targets' reading of its record	ClinicalTrials.gov
NCT07477548	A Study to Evaluate the Efficacy and Safety of Everolimus in Patients With Teratment-refractory Vascular Anomalies	Phase 2	67		Vascular Malformations, Arteriovenous Malformations, Venous Malformation, Lymphangioma, Nevus, Port-Wine, Hemangioendothelioma, Hemangioma	EVEROLIMUS	Its record names the disease	ClinicalTrials.gov
NCT02509468	suPERficial Slow-flow Vascular malFORMations Treated With sirolimUS	Phase 2	63		Vascular Malformation	SIROLIMUS	Its record names the disease	ClinicalTrials.gov
NCT05983159	A Trial of Targeted Therapies for Patients With Slow-Flow or Fast-Flow Vascular Malformations	Phase 2	50		Slow-Flow Vascular Malformation, Fast-Flow Vascular Malformation, Vascular Malformations, Venous Malformation, Lymphatic Malformation, Low Flow, Lymphatic Malformation, Lymphangioma, Arteriovenous Malformations, Venous Malformation, Low Flow, Cystic Hygroma, Vascular Anomaly, Vascular Anomalies, PI3K Gene Mutation, MAP2K1 Gene Mutation, PIK3CA-related Overgrowth Spectrum, Arteriovenous Malformation (AVM), KRAS G12C, KRAS G12D	ALPELISIB, MIRDAMETINIB	Open Targets' reading of its record	ClinicalTrials.gov
NCT07037238	An Open-Label, Single-Arm Exploratory Clinical Study of Everolimus for the Treatment of Vascular Malformations	Phase 2	10		Vascular Malformations	EVEROLIMUS	Open Targets' reading of its record	ClinicalTrials.gov

Comparisons in its trials2

Comparisons Trial comparisons calculated in the trials shown here, most participants first. A comparison in one of these trials does not always compare a treatment for the disease, so read the two groups.

Comparison	Group 1, with the outcome	Group 2, with the outcome	Participants	Trial	Source
Topical Timolol Maleate vs Placebo: deaths from any cause	0 of 5	0 of 5	10	NCT01752049	Trial comparisons
Topical Timolol Maleate vs Placebo: serious adverse events	0 of 5	0 of 5	10	NCT01752049	Trial comparisons

Papers from its trials14

The papers the trials shown here list on ClinicalTrials.gov as their results (RESULT) or as drawn from them (DERIVED), results first, newest first.

PMID	Listed as	Trials listing it	Source
34524406	RESULT	1	PubMed
24219762	RESULT	1	PubMed
22098296	RESULT	1	PubMed
21955427	RESULT	1	PubMed
21784047	RESULT	1	PubMed
18031363	RESULT	1	PubMed
17254484	RESULT	1	PubMed
41366677	DERIVED	1	PubMed
41281754	DERIVED	1	PubMed
37937645	DERIVED	1	PubMed

1 to 10 of 14

See all 14 papers from its trials

Data dates

The date of each source this release read.

Open Targets: 2026-09-18; Open Targets
Drug links and their checks, from Drugs and targets: 2026-09-18; Drugs and targets
ClinicalTrials.gov, from Trials: 2026-11-12; Trials
Comparisons, from Trial comparisons: 2026-03-23; Trial comparisons
PubMed, for the checks: 2026-11-06; PubMed
MeSH, for the checks: 2026-11-10; MeSH

Sources 6

ClinicalTrials.gov's posted results, through CTTI's AACTFreely available. Acknowledgement requested
ChEMBL, through Open TargetsCC BY-SA 3.0
ClinicalTrials.govNo license stated
NLM's MeSHNLM's terms
Open TargetsCC0 1.0
PubMedNLM's terms

Each source's terms

ClinicalTrials.gov's posted results, through CTTI's AACTClinicalTrials.gov data via Aggregate Analysis of ClinicalTrials.gov (AACT), CTTI. CTTI makes its materials freely available and requests acknowledgement. https://aact.ctti-clinicaltrials.org/documentation/299
ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
ClinicalTrials.govnone stated
NLM's MeSHNLM's
Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
PubMedNLM's terms

ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.

For software

Read this disease from software.

The record and each of its lists are JSON, twenty rows a page. No key.

GET https://conductscience.org/api/diseases/v1/MONDO_0024291

GET https://conductscience.org/api/diseases/v1/MONDO_0024291/drugs

API reference For AI assistants