DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for 3MC syndrome 2 — screening already-approved drugs against its 2-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease module3MC syndrome 2 maps to a 2-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 3mc syndrome 2 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
solute carrier family 26 member 2 (SLC26A2) — SLC26A2 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 oxldrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 8TNX · 3.03 Å · ligand OXALATE ION (OXL). Experimental structure, not a prediction.
What the evidence adds up to
The 2016 study of 13 individuals from 12 previously unreported families with suspected 3MC syndrome found that two individuals from different consanguineous families had no mutations in MASP1 or COLEC11, and four further individuals sequenced for both genes also had no mutations. The authors concluded that further genetic heterogeneity of 3MC syndrome likely exists. By 2021, a total of 16 homozygous or compound heterozygous pathogenic variations in MASP1 had been reported in 27 patients from 22 families. A 2021 report described a male patient with a novel homozygous MASP1 variant who presented with macrocephaly, pyloric stenosis, and prenatal findings including polyhydramnios, aortic dilatation, and intracranial cysts, in addition to the distinctive facial features.
A 2022 study described clinical and molecular findings in five patients, including follow-up of two brothers whose phenotypes had first been reported in 1999. The 2022 authors noted that relatively few patients with 3MC syndrome have been described so far, despite the identification of genetic variants in MASP1, COLEC11, and COLEC10 as causative. The core clinical features across all reports remain cleft lip and palate, hypertelorism, highly arched eyebrows, caudal appendage, postnatal growth deficiency, and genitourinary tract anomalies, with anterior chamber eye defects also noted.
No drug treatment or intervention is mentioned in any of these abstracts. The natural history and full phenotypic spectrum of 3MC syndrome remain incompletely delineated, and the number of molecularly confirmed patients is small. What is still missing is a larger, systematically collected patient cohort, standardised clinical follow-up data, and any preclinical or clinical work aimed at developing a therapy for this complement-pathway disorder.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
American Journal of Medical Genetics Part A · 2016 · 28 citations · open access
Exploring the genetic basis of 3MC syndrome: Findings in 12 further families
AbstractThe 3MC syndromes are a group of rare autosomal recessive disorders where the main clinical features are cleft lip and palate, hypertelorism, highly arched eyebrows, caudal appendage, postnatal growth deficiency, and genitourinary tract anomalies. Ophthalmological abnormalities, most notably anterior chamber defects may also be seen. We describe the clinical and molecular findings in 13 individuals with suspected 3MC syndrome from 12 previously unreported families. The exclusion of the MASP1 and COLEC11 Loci in two individuals from different consanguineous families and the absence of mutations in four further individuals sequenced for both genes raises the possibility that that there is further genetic heterogeneity of 3MC syndrome.
Molecular Syndromology · 2021 · 5 citations · open access
Further Expansion of the Mutational Spectrum of 3MC Syndrome: A Novel <b><i>MASP1</i></b> Pathogenic Variant in a Male Patient
AbstractThe 3MC syndrome is a rare autosomal recessive syndrome characterized by facial dysmorphism, multiple congenital abnormalities, and postnatal growth deficiency. Hypertelorism, blepharophimosis, blepharoptosis, high-arched eyebrows, and cleft lip/palate compose the facial gestalt, which is the key component for diagnosing the syndrome. Biallelic pathogenic variants in <i>MASP1, COLEC11</i>, and <i>COLEC10</i> are responsible for 3MC syndrome in which both genotypic and phenotypic heterogeneity is described. To date, 16 homozygous/compound heterozygous pathogenic variations in 27 patients from 22 families have been reported in the <i>MASP1</i> gene associated with 3MC syndrome. Here, we report a male patient with a novel homozygous pathogenic variant in <i>MASP1</i> in whom macrocephaly, pyloric stenosis, and prenatal findings including polyhydramnios, aortic dilatation, and intracranial cysts beside the distinctive facial features were detected. Reporting detailed clinical and molecular findings in patients is pivotal in terms of enabling the phenotypic and genotypic spectrum of this rare syndrome to be delineated.
3MC syndrome: molecular findings in previously reported and milder patients expand the natural history and phenotypic spectrum
AbstractThe 3MC syndromes types 1-3 (MIM#257920, 265050 and 248340, respectively) are rare autosomal recessive genetic disorders caused by pathogenic variants in genes encoding the lectin complement pathway. Patients with 3MC syndrome have a distinctive facial phenotype including hypertelorism, highly arched eyebrows and ptosis. A significant number of patients have bilateral cleft lip and palate and they often exhibit genitourinary and skeletal anomalies. A clinical clue to 3MC syndrome is the presence of a characteristic caudal appendage. Genetic variants in MASP1, COLEC11 and COLEC10 genes have been identified as the causation of this syndrome, yet relatively few patients have been described so far. We consolidate and expand current knowledge of phenotypic features and molecular diagnosis of 3MC syndrome by describing the clinical and molecular findings in five patients. This includes follow-up of two brothers whose clinical phenotypes were first reported by Crisponi et al in 1999. Our study contributes to the evolving clinical and molecular spectrum of 3MC syndrome.
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.
