Disease · MONDO_0008318

Proteus syndrome

6 sourcesdiseases-2026-09-18-0.1.0

Cite this record

ConductScience Library. Proteus syndrome. Diseases, record MONDO_0008318. Release diseases-2026-09-18-0.1.0, 18 Sept 2026. https://conductscience.org/library/diseases/MONDO_0008318

On this page

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: Proteus syndrome; Open Targets
Open Targets ID: MONDO_0008318; Open Targets
Other names: Partial gigantism - nevi - hemihypertrophy - macrocephaly, Wiedemann's syndrome, partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome, proteus syndrome, somatic; Open Targets
Disease Ontology: DOID:13482; Disease Ontology
MeSH: D016715; MeSH
NCI Thesaurus: C85032; NCI Thesaurus
Orphanet: ORPHA:744; Orphanet
Highest stage of its drugs: Phase 2, for its one drug, from ClinicalTrials.gov and TTD; Open Targets

Drugs1

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
MIRANSERTIB	CHEMBL4297188	Small molecule	Phase 2	ClinicalTrials.gov and TTD	5	4	4

Source Drugs and targets

Targets3

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
AKT1	Serine/threonine-protein kinase AKT	1	Serine/threonine-protein kinase AKT inhibitor	Phase 2	https://conductscience.org/library/genes/207	Drugs and targets
AKT2	Serine/threonine-protein kinase AKT	1	Serine/threonine-protein kinase AKT inhibitor	Phase 2	https://conductscience.org/library/genes/208	Drugs and targets
AKT3	Serine/threonine-protein kinase AKT	1	Serine/threonine-protein kinase AKT inhibitor	Phase 2	https://conductscience.org/library/genes/10000	Drugs and targets

Trials4

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
NCT03094832	Study of Miransertib (MK-7075) in Participants With PIK3CA-related Overgrowth Spectrum and Proteus Syndrome (MOSAIC) (MK-7075-002)	Phase 1/2	50	2023-03-31	PIK3CA-Related Overgrowth Spectrum (PROS)/Proteus Syndrome	MIRANSERTIB	Its record names the disease	ClinicalTrials.gov
NCT04980872	A Study of the Safety and Tolerability in Participants With PIK3CA-related Overgrowth Spectrum or Proteus Syndrome Who Are Being Treated With Miransertib (MK-7075) in Other Studies (MK-7075-006)	Phase 2	60		PIK3CA-Related Overgrowth Spectrum (PROS)/Proteus Syndrome (PS)	MIRANSERTIB	Its record names the disease	ClinicalTrials.gov
NCT04316546	MK-7075 (Miransertib) in Proteus Syndrome	Phase 2	38		Proteus Syndrome	MIRANSERTIB	Its record names the disease	ClinicalTrials.gov
NCT02594215	Dose Finding Trial of MK-7075 in Children and Adults With Proteus Syndrome	Phase 1	6		Proteus Syndrome	MIRANSERTIB	Its record names the disease	ClinicalTrials.gov

Comparisons in its trials0

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.

None in this release.

Papers from its trials5

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
42224880	DERIVED	1	PubMed
40713644	DERIVED	1	PubMed
34649967	DERIVED	1	PubMed
33639990	DERIVED	1	PubMed
30803705	DERIVED	1	PubMed

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_0008318

GET https://conductscience.org/api/diseases/v1/MONDO_0008318/drugs

API reference For AI assistants