DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for symphalangism, proximal, 1B — 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 moduleSymphalangism, proximal, 1B 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 symphalangism, proximal, 1b 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
growth differentiation factor 5 (GDF5) — GDF5 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 ipadrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 2BHK · 2.4 Å · ligand ISOPROPYL ALCOHOL (IPA). Experimental structure, not a prediction.
What the evidence adds up to
Proximal symphalangism 1B is a rare congenital disorder characterised by ankylosis of the interphalangeal joints, most commonly the proximal joints of the hands and feet. A 2020 case report describes a 14-year-old girl with symphalangism involving only the interphalangeal joints of both thumbs, who had no functional impairment and therefore received no medical or surgical intervention. A 2022 report presents a patient with proximal symphalangism of the hand who sustained a fracture at the level of a fused proximal interphalangeal joint; nonoperative management with splinting led to osseous healing and restored baseline function.
The condition can be associated with hearing loss. A 1969 review notes that among four types of hereditary symphalangism, only one includes hearing loss: dominant proximal symphalangism, in which families studied by Strasburger et al. and Vessel showed ankylosis of the proximal interphalangeal joints together with conductive hearing loss. A 1985 report describes a 5-year-old girl with the facio-audio-symphalangism syndrome, previously called the WL syndrome, and reviews the literature. A 2016 study identifies a recurrent missense mutation in GDF5 (p.R438L) causing proximal symphalangism in a British family, and emphasises the importance of thorough family history and clinical examination in children with fixed planovalgus feet to detect rare skeletal dysplasia conditions causing pain and deformity.
No drug treatments are mentioned in any of these abstracts. The evidence consists entirely of case reports and genetic descriptions, with no controlled trials, no interventional studies, and no data on survival or response rates. What is missing is any clinical trial design, any patient stratification beyond family history, and any funding directed toward pharmacological intervention for this rare skeletal condition.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
New England Journal of Medicine · 1969 · 59 citations
Hereditary Deafness in Man
AbstractHereditary Deafness Associated with Skeletal DiseaseAbout 12 different hereditary diseases have been described in which there is an association between hearing loss and disease of the skeletal system. The skeletal abnormalities include symphalangism, craniostenosis, facial deformities, abnormalities of the extremities and dysgenesis of bone.Dominant Proximal Symphalangism and Hearing LossAlthough four types of hereditary symphalangism have been described, in only one is there an associated hearing loss. Strasburger et al.77 and Vessel78 studied several families with dominant proximal symphalangism. Characteristics of this syndrome included ankylosis of the proximal interphalangeal joints and a conductive hearing loss. The number of . . .
The facio‐audio‐symphalangism syndrome: report of a case and review of the literature
AbstractA detailed account is given of a 5-year-old girl with the facio-audio-symphalangism syndrome. This genetic disorder has been known previously by other names, including the WL syndrome. The reasons for suggesting this new descriptive term are given, along with a review of the literature.
World Journal of Orthopedics · 2016 · 8 citations · open access
Recurrent missense mutation of <i>GDF5</i> (<i>p.R438L</i>) causes proximal symphalangism in a British family
Abstractgene. This report highlights the importance of thorough history taking, including a three generation family history, and detailed clinical examination of children with fixed planovalgus feet and other family members to detect rare skeletal dysplasia conditions causing pain and deformity, and provides details of the spectrum of problems associated with SYM1B.
International Surgery Journal · 2020 · 1 citations · open access
A rare case of symphalangism of bilateral interphalangial joint of thumbs: a case report
AbstractSymphalangism is rare congenital disorder characterised by ankylosis of interphalangeal joints of hands and feet. The fusion can involve the proximal or the distal joints; however, involvement of the proximal interphalangeal joints is more common. There may other associated skeletol and non-skeletol abnormalities. Here the author reports a 14 year old girl with symphalangism involving the interphalangeal joints of the thumbs of bilateral hand. She did not have any functional impairment and hence no medical or surgical intervention was performed. As involvement of thumbs is very rare condition, author would like to report it.
Case Reports in Plastic Surgery and Hand Surgery · 2022 · 0 citations · open access
Proximal interphalangeal-level fracture in patient with symphalangism
AbstractSymphalangism is a rare, congenital syndrome involving ankylosis of the interphalangeal joints. We present a rare case of fracture at the level of a fused proximal interphalangeal joint in a patient with proximal symphalangism of the hand. Nonoperative management with splinting resulted in osseous healing and restored baseline function.
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.
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