DeCure for Nonsyndromic congenital nail disorder 4
DeCure's autonomous Dermatology AI scientist is researching a drug-repurposing hypothesis for nonsyndromic congenital nail disorder 4 — 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 moduleNonsyndromic congenital nail disorder 4 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 nonsyndromic congenital nail disorder 4 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.
What the evidence adds up to
A 2025 study of a Chinese patient with non‑syndromic congenital nail disorder type 4 (OMIM 206800) identified a novel frameshift variant in the RSPO4 gene, c.268dupA/p.Cys91fs*6, classified as likely pathogenic under American College of Medical Genetics and Genomics guidelines. The patient presented with severe hypoplasia or complete absence of fingernails and toenails, consistent with the diagnostic criteria for the condition. A systematic literature review accompanying the case confirmed that the disorder manifests as generalised nail dysplasia without associated hair, dental, or skeletal abnormalities. The study expands the known genetic spectrum of RSPO4 variants but reports no therapeutic intervention or outcome data.
A 2013 case report described treatment of congenital onychodysplasia of the index finger with a specialised nail device. The report is limited to a single device application and provides no quantitative outcomes such as nail growth measurements, patient satisfaction scores, or follow‑up duration. No drug or systemic therapy was involved.
A 2014 literature review of congenital nail abnormalities summarised clinical varieties but offered no treatment data, no genetic analysis, and no patient‑level outcomes. It did not address non‑syndromic congenital nail disorder type 4 specifically.
No drug has been tested in any clinical trial for non‑syndromic congenital nail disorder type 4. No survival or response rates exist because the condition is not life‑threatening and no pharmacological intervention has been studied. What is missing is any funded clinical trial, any attempt at drug repurposing, any patient‑stratification strategy, and any outcome measure beyond genetic diagnosis. The only reported intervention is a mechanical nail device in a single patient with a related but distinct 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.
Clinical and Experimental Dermatology · 2013 · 4 citations
Treatment of congenital onychodysplasia of the index finger with specialized nail device
AbstractJournal Article Treatment of congenital onychodysplasia of the index finger with specialized nail device Get access S.‐W. Park, S.‐W. Park Department of Dermatology Sungkyunkwan University School of Medicine Samsung Medical Center 50 Ilwon‐Dong Gangnam‐GuSeoul 135‐710 South Korea Search for other works by this author on: Oxford Academic Google Scholar D.‐Y. Lee D.‐Y. Lee Department of Dermatology Sungkyunkwan University School of Medicine Samsung Medical Center 50 Ilwon‐Dong Gangnam‐GuSeoul 135‐710 South Korea Search for other works by this author on: Oxford Academic Google Scholar Clinical and Experimental Dermatology, Volume 38, Issue 7, 1 October 2013, Pages 791–792, https://doi.org/10.1111/ced.12141 Published: 01 October 2013
AbstractCongenital nail abnormalities (CNAs) are rare conditions in which the nail tissue appears abnormal compared with the fingers and the toes. They usually present accompanying deformities and disorders. Our purpose was to review the current literature on the clinical aspects of CNA. We reviewed the literature to evaluate peer-reviewed articles on the topic. Detailed reports have characterized many types of CNA. In this article, we provide a review of the literature based on the current understanding of CNAs and the clinical varieties thereof.
Frontiers in Pediatrics · 2025 · 0 citations · open access
A novel variation in RSPO4 causing nonsyndromic congenital nail disorder-4 in a Chinese patient
AbstractBackground Non-syndromic congenital nail disorder type 4 (OMIM: 206800) is a rare autosomal recessive condition characterized by severe hypoplasia or complete absence of fingernails and toenails. This disorder results from variants in the RSPO4 gene (OMIM: 610573) located on chromosome 20p13. Objective This study aimed to assess the potential pathogenicity of a novel RSPO4 variant identified in a Chinese patient and to explore the phenotypic and molecular genetic characteristics of Non-syndromic congenital nail disorder type 4. Methods Whole-exome sequencing was performed in the proband to identify candidate variants. Sanger sequencing validated the variant and determined its origin. In silico prediction tools were used to evaluate the variant's functional impact. Pathogenicity classification followed the American College of Medical Genetics and Genomics guidelines. A systematic literature review was conducted to collate previously reported cases. Results A novel frameshift variant in the RSPO4 gene—c.268dupA/p.Cys91fs*6—was identified and classified as likely pathogenic based on the American College of Medical Genetics and Genomics guidelines. The clinical presentation of the patient was consistent with the diagnostic criteria for Non-syndromic congenital nail disorder type 4. Literature review confirmed that Non-syndromic congenital nail disorder type 4 primarily manifests as generalized nail dysplasia without associated hair, dental, or skeletal abnormalities. Conclusion This study expands the known genetic spectrum of Non-syndromic congenital nail disorder type 4 and enhances the understanding of phenotypic characteristics associated with RSPO4 variants. The findings have potential implications for improving variant-based screening, genetic diagnostics, and molecular insights into RSPO4 -related disorders.
<b>Next-Generation Sequencing (NGS) data and Sanger sequencing data </b>
AbstractNon-syndromic congenital nail disorder type 4 (OMIM: 206800) is a rare autosomal recessive condition characterized by severe underdevelopment or complete absence of fingernails and toenails. This disorder results from variants in the RSPO4 gene (OMIM: 610573) located on chromosome 20p13.A novel frameshift variant in the RSPO4 gene—c.268dupA / p.Cys91fs*6—was identified and classified based on WES and Sanger sequence in a Chinese patient .
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.
