Rare & Orphan Lab · DeCure for X

DeCure for Glomuvenous malformation

DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for glomuvenous malformation — screening already-approved drugs against its 1-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.

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Rare & OrphanDOID:7996$DeCureRare

The disease map

Disease moduleGlomuvenous malformation maps to a 1-gene Open Targets module — the target space DeCure's AI scientist screens approved drugs against.
DeCure.ai methodSignature reversal (LINCS) plus network proximity (STRING) rank already-approved drugs likely to perturb this module — the same engine that produces DeCure.ai's repurposing hypotheses.
Repurposing thesisScreening approved medicines against this disease module, then publishing the evidence for the strongest candidate. Known pharmacology and human exposure data make the first question sharper — they do not establish safety or efficacy in a new indication.

Research record

01
ResearchComing soon
Candidate research + dossier — target rationale, drug-repurposing thesis and evidence pack.proof: Published dossier + on-chain hash
02
ValidationComing soon
In-vitro biological validation at a contract research org (CRO).proof: CRO contract + in-vitro report
03
Peer review & paperComing soon
Peer-reviewed paper published open-access (preprint + journal).proof: DOI + open-access link + on-chain hash

Current lead

No approved-drug candidate for glomuvenous malformation is corroborated in the literature DeepSearch retrieved. Some conditions are managed with non-pharmacological care — a device, surgery or physical therapy — rather than a medicine; that may be the case here, or the literature we found may simply be too sparse yet to support a drug-repurposing angle.

Molecular view

glomulin, FKBP associated protein (GLMN)GLMN is one of the genes genetically linked to this disease in Open Targets — shown as context, not as a drug target we're pursuing: no approved-drug candidate for this disease is yet corroborated in the literature we found.

Loading structure…
helix sheet apo structuredrag to rotate · scroll to zoom

RCSB Protein Data Bank · entry 4F52 · 3.0 Å · ligand none (apo structure). Experimental structure, not a prediction.

What the evidence adds up to

Surgical excision of glomuvenous malformation leads to high recurrence, likely because of incomplete resection. In a 19-year-old female, intraoperative laser-assisted indocyanine green fluorescent dye angiography was used during excision to visualise the extent of the malformation, and no recurrence was reported. The authors suggest this technique could help in future management, but this is a single case.

A separate case report describes a 2-year-old male with multiple small, flat, blue-gray skin lesions. Genetic analysis of blood and biopsy samples found germline and somatic mutations in the GLMN gene at nucleotide positions c.157_161 and c.661, creating truncated glomulin proteins through premature stop codons. Complete surgical excision was performed, and postoperative follow-up showed no evidence of recurrence. The authors state that complete surgical excision remains curative for symptomatic, localised lesions.

A third report describes a glomuvenous malformation in the thumb of a 41-year-old female who underwent surgical treatment with a simple postoperative follow-up. No recurrence data or sample size beyond the single patient is given.

Across these three case reports, the total number of patients is three. There are no controlled trials, no randomised comparisons, and no data on non-surgical treatments. What is still missing is any prospective trial with a defined sample size, standardised imaging or genetic criteria for resection completeness, and long-term follow-up in a larger cohort to establish whether recurrence rates are genuinely reduced by any specific technique or by complete excision guided by genetic diagnosis.

Evidence

Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.

Case Reports in Plastic Surgery and Hand Surgery · 2025 · 0 citations · open access

Use of laser-assisted indocyanine green (ICG) fluorescent dye angiography in surgical excision of glomuvenous malformations

AbstractSurgical excision of glomuvenous malformation leads to high recurrence likely occurring because of incomplete resection. We utilized intraoperative laser-assisted ICG fluorescent dye angiography to visualize extent of glomuvenous malformation in a 19-year-old female during excision with no recurrence. Laser-assisted ICG fluorescent dye angiography could help in future glomuvenous malformation management.

https://doi.org/10.1080/23320885.2025.2520783
Journal of Craniofacial Surgery · 2025 · 0 citations

Symptomatic Glomuvenous Malformation of the Anterior Chest: Clinical Presentation, Surgical Management, and Genetic Considerations

AbstractINTRODUCTION: Glomuvenous malformations (GVMs), historically referred to as "glomangiomas," are rare venous malformations characterized by the presence of smooth muscle-like glomus cells around vein-like channels. A subset of these lesions arises due to heterozygous mutations in the glomulin (GLMN) gene. This case report describes the clinical presentation, surgical excision, and histopathologic evaluation of a glomuvenous malformation, highlighting the key role of genetic testing and the importance of differentiating GVMs from other vascular anomalies. METHODS: A 2-year-old male was found to have multiple small, flat, blue-gray lesions of the skin during his well-child visit. The patient underwent imaging studies to characterize the lesion's extent and vascularity, followed by complete surgical excision. Blood and biopsy samples from the procedure were sent to another institution for genetic testing. RESULTS: Genetic analysis of samples were positive for germline and somatic mutations of the GLMN gene at nucleotide positions c.157_161 and c.661, creating truncated glomulin proteins through premature stop codons. These genetic variants are consistent with a diagnosis of GVM. Postoperative follow-up demonstrated no evidence of recurrence. CONCLUSIONS: Glomuvenous malformations are clinically distinct from other venous malformations due to their histology, mutational etiology (GLMN), and characteristic appearance. Proper recognition of GVMs is critical to guide management, avoid unnecessary investigations, and offer genetic counseling for families. Complete surgical excision remains curative for symptomatic, localized lesions.

https://doi.org/10.1097/scs.0000000000011504
IJVES Case Reports · 2023 · 0 citations · open access

About an Observation of Glomuvenous Malformation of the Thumb

AbstractAbstract The glomuvenous malformation is a venous and cutaneous malformation that develops from a thermoregulatory unit called the glomus body. Our objective in this work is to clarify the latest terminologies of this pathology based on clinical, radiological, and histological criteria specific to this malformation; we report an exceptional case of a glomuvenous malformation in the thumb of a 41-year-old female patient, which undertook a surgical treatment with a simple postoperatory follow-up.

https://doi.org/10.4103/ijcr.ijcr_81_23

Disease module: DeepOracle (Open Targets). Structures: RDKit from PubChem SMILES. Literature: retrieved by DeepSearch across 234,678,978 indexed works (targeted per-candidate search), resolved on OpenAlex.

DeCure is a research and publication project, not medical advice and not a treatment. "DeCure for X" describes a research goal, not a claim that a cure exists. Backing a cure is a contribution to fund the research — it is not an investment, and confers no yield, royalty, equity or IP ownership. Papers are published open-access by the DeCure.ai DAO.