DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for orofaciodigital syndrome type II — 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 moduleOrofaciodigital syndrome type II 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 orofaciodigital syndrome type ii 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
NIMA related kinase 1 (NEK1) — NEK1 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 2-amino-4-methyl-thiazol-5-yldrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 4B9D · 1.9 Å · ligand [4-(2-AMINO-4-METHYL-THIAZOL-5-YL)-PYRIMIDIN-2-YL]-(3-NITRO-PHENYL)-AMINE (CK7). Experimental structure, not a prediction.
What the evidence adds up to
Orofaciodigital syndrome type I is a rare X-linked dominant disorder with a reported prevalence between 1:50,000 and 1:250,000, primarily affecting females and lethal in most males. The condition arises from defects in primary cilia formation, and mutations in the OFD1 gene at locus Xp22.2 are causative. In a 2007 study of twin sisters, genetic analysis identified a previously unreported nucleotide change, 243C>G, leading to the missense mutation H81Q in exon 3 of the OFD1 gene. A 2022 report of a 14-month-old girl with congenital cleft palate, lower lip midline cleft, and digital anomalies confirmed a heterozygous variant of OFD1 at Xp22.2. A 2013 case described a seven-year-old Indian girl with typical features of OFDS type I who also had nephrocalcinosis. A 2025 review of a twelve-year-old patient emphasised the significant genetic heterogeneity and clinical variability among patients with OFD1 mutations.
No drug treatments, repurposed or otherwise, are mentioned in any of these abstracts. The 2022 report notes that treatment modalities were presented for that patient, but does not specify what they were. The 2007 study involved buccal exploration, cephalometric examination, and genetic analysis for diagnosis, not therapy. The 2013 and 2025 papers describe clinical features and genetic findings but offer no pharmacological intervention.
The evidence base for any drug in orofaciodigital syndrome type I is therefore absent. What is missing is any clinical trial, any preclinical drug testing, any patient stratification by specific OFD1 mutation, and any funding directed toward therapeutic development for this orphan disease.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
The Cleft Palate-Craniofacial Journal · 2007 · 13 citations
Buccal Anomalies, Cephalometric Analysis and Genetic Study of Two Sisters with Orofaciodigital Syndrome Type I
AbstractOrofaciodigital syndromes have many clinical and cephalometric anomalies, including facial irregularities, oral cavity abnormalities, and malformations of fingers and toes. In this case of twin girls, buccal exploration, cephalometric examination, and genetic analysis were performed to diagnose Orofaciodigital I or Orofaciodigital II syndrome. Clinically, the twins had several dental and skeletal irregularities. Genetic analysis revealed a DNA segment abnormality corresponding to exon 3 and presence of nucleotide change, 243C>G, leading to the missense mutation H81Q. This causative mutation associated with the OFD1 gene has not been reported previously. Both patients were diagnosed as having Orofaciodigital I syndrome.
Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics) · 2025 · 1 citations · open access
Orofaciodigital syndrome type I in a twelve-year-old child
AbstractOrofaciodigital syndrome type I is a rare (orphan) disease with a prevalence of 1:50,000 to 1:250,000, characterized by craniofacial, oral, and digital anomalies, as well as involvement of internal organs, including the kidneys. Orofaciodigital syndrome type I is inherited in an X-linked dominant manner, primarily affecting females, and arises from defects in the formation of primary cilia. This article presents a clinical case of a 12-year-old patient diagnosed with orofaciodigital syndrome type I, along with a review of the pathogenic mechanisms and clinical manifestations of the syndrome based on literature data. The article demonstrates the significant genetic heterogeneity and clinical variability among patients with mutations in the OFD1 gene.
BMJ Case Reports · 2013 · 1 citations · open access
Rare case of orofaciodigital syndrome type I
AbstractOrofaciodigital syndrome (OFDS) is a group of congenital anomalies which affects the face, oral structures and digits. There are nine subtypes with different modes of inheritance. OFDS type I is an X-linked dominant trait with lethality in the vast majority of affected males. We report a case of OFDS type I in an Indian girl at the age of seven who had most of the typical features of OFDS type I and nephrocalcinosis.
Journal of Craniofacial Surgery · 2022 · 0 citations
Whole-Exon Sequencing and Correlation Analysis of a 14-Month-Old Girl With Orofaciodigital Syndrome
AbstractOrofaciodigital syndrome type 1 (OFDS1) is a genetic disorder characterized by specific oral, facial, and limb malformations. A 14-month-old girl with congenital cleft palate, lower lip midline cleft, and digital anomalies admitted to our hospital was preliminarily diagnosed with OFDS1. Genetic analysis revealed that she carried a heterozygous variant of OFD1 at locus Xp22.2 on the X chromosome. Herein, we present the specific phenotype and genotype and the treatment modalities for this patient and references for diagnosing and treating OFDS.
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.
