DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for frontometaphyseal dysplasia 2 — 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.
Disease moduleFrontometaphyseal dysplasia 2 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 frontometaphyseal dysplasia 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
mitogen-activated protein kinase kinase kinase 7 (MAP3K7) — MAP3K7 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 adndrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 2EVA · 2.0 Å · ligand ADENOSINE (ADN). Experimental structure, not a prediction.
What the evidence adds up to
Frontometaphyseal dysplasia has been described in fewer than two dozen published cases as of 1980, with some reports later found to be duplicate or erroneous. A 1980 survey of all published examples, supplemented by re-examination of original families, concluded that the disorder is X-linked, producing severe manifestations in males and extremely variable, often mild, manifestations in females. The same survey noted that earlier statements about dominant or X-linked recessive inheritance had created confusion about possible genetic heterogeneity.
A 1998 case report describes a single 9-year-old child who underwent cranioplasty to correct the fronto-orbital deformity. The report states that the bone disorder is extremely rare and that patients are often stigmatised by their appearance, but it provides no data on long-term outcomes, complication rates, or any measure of functional improvement beyond the surgical correction itself.
In 2021, a novel missense mutation in TAB2 was identified in a child with multiple congenital malformations, joint contractures, and bone deformities. The authors note that frontometaphyseal dysplasia type 2 is an autosomal dominant disorder usually caused by MAP3K7 mutation, and that this is only the third report of a TAB2 mutation in the TAK1-binding region being linked to the condition. No treatment or outcome data are given for this patient.
A 2017 case report of frontonasal dysplasia, a different condition, describes a full-term male baby whose defects were not compatible with survival. The authors state that developing nations lack the finances, surgical capacity, education, and social support needed to manage such cases. This abstract is included here but concerns a separate disorder and does not address frontometaphyseal dysplasia.
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 · 1980 · 41 citations
Frontometaphyseal dysplasia—evidence for X‐linked inheritance
AbstractFewer than two dozen cases of frontometaphyseal dysplasia have been reported, some doubly or erroneously. In most reports, no information is available on possible variable manifestations in female relatives. Statements that the disorder is inherited as a dominant trait, and as an X-linked recessive have caused us to consider genetic heterogeneity. A recent large kindred prompted us to survey all published examples. We asked authors to reexamine the families they studied for any expression in relatives. In some cases, no further information could be elicited, but some additional information was gathered and pedigrees modified. This evidence was sufficient to indicate X-linked inheritance, with severe manifestations in males and extremely variable manifestations in females.
Plastic & Reconstructive Surgery · 1998 · 6 citations
Cranioplasty in Frontometaphyseal Dysplasia
AbstractFrontometaphyseal dysplasia is an extremely rare craniotubular bone disorder predominantly manifested by supraorbital bossing. Although recognizable with findings at birth, it is usually identified successfully before the onset of puberty. These patients often are stigmatized related to their appearance and may present to the plastic surgeon for intervention. We present a case of successful cranioplasty in correcting the fronto-orbital deformity in a 9-year-old child with frontometaphyseal dysplasia.
Human Genome Variation · 2021 · 5 citations · open access
A novel TAB2 mutation detected in a putative case of frontometaphyseal dysplasia
AbstractFrontometaphyseal dysplasia (FMD) type 2 is an autosomal dominant disorder characterized by skeletal abnormalities and caused by MAP3K7 mutation. We identified a novel missense mutation in TAB2 associated with FMD in a child with multiple congenital malformations. This case was diagnosed as FMD due to joint contractures and bone deformities. This is the third report of FMD caused by a TAB2 mutation located in the TAK1-binding region.
Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy
AbstractPURPOSE: To report on the clinical ophthalmologic and radiographic findings in spondylometaphyseal dysplasia with cone-rod dystrophy. BACKGROUND: The spondylometaphyseal dysplasias are a rare and heterogeneous group of disorders characterized by skeletal abnormalities of the spine and the metaphyses of long bones. In rare instances, spondylometaphyseal dysplasia can occur concomitantly with ocular abnormalities including a retinal degeneration of the cone-rod dystrophy type. METHODS: Retrospective review of affected twin females with serial radiographic imaging, comprehensive ophthalmologic examination, fundus photography, and electroretinography. RESULTS: The major radiographic findings involved bony abnormalities of the spine, metaphyses of the long bones and a distinctive shape to the bony pelvis. Both twins had a fine nystagmus that was present by 10 months of age. Dilated ocular fundus examination revealed similar appearing bilateral, large, excavated, well-circumscribed oval areas of chorioretinal atrophy occupying the macula between the aracades. Electroretinography showed a significant reduction in the photopic responses and slight reduction in the scotopic component of the waveforms consistent with cone-rod dystrophy. CONCLUSIONS: Spondylometaphyseal dysplasia with cone-rod dystrophy is a rare congenital disorder of unknown inheritance pattern and pathophysiolgy. The ocular manifestations appear to stabilize in early adolescence whereas the skeletal abnormalities are progressive with age.
International Journal of Research in Medical Sciences · 2017 · 2 citations · open access
Frontonasal dysplasia- a rare case report
AbstractFrontonasal dysplasia (FND) is a rare malformative complex affecting the frontal portion of the face, the eyes and the nose; it may occur singly or associated with other clinical signs. We report here a rare case of a full-term male baby who presented with features of FND. There was no history of consanguinity, no positive family history. Antenatal ultrasonography was normal. Though this baby did not survive because the defects were not compatible for the survival. But the developing nations still have handicap in the management of such cases in term of fiancés, surgical correction of such major defects, education and social support in these patients.
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.
