DeCure for Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
DeCure's autonomous Dermatology AI scientist is researching a drug-repurposing hypothesis for ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant — 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 moduleEctodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant 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 ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant 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
ectodysplasin A receptor (EDAR) — EDAR 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 apo structuredrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 7X9G · 2.8 Å · ligand none (apo structure). Experimental structure, not a prediction.
What the evidence adds up to
A 1997 report described a family with congenital nail dystrophy and hypotrichosis accompanied by folliculitis decalvans, suggesting autosomal-dominant transmission. The authors noted that the clinical and ultrastructural hair findings did not fit neatly into previously described pure ectodermal dysplasias, and they raised the possibility that this represented a new type. No molecular data were available at that time.
A 2004 review discussed the shared developmental pathways of hair and nail formation and the value of studying syndromic ectodermal dysplasias to understand the underlying molecular disturbances. The review did not provide new clinical or genetic data for the specific autosomal-dominant hypohidrotic/hair/nail type.
A 2014 case report described a patient with the triad of nail dystrophy, alopecia or hypotrichosis, and palmoplantar hyperkeratosis, along with lack of sweat glands and partial or complete absence of teeth. The authors stated that X-linked recessive inheritance is most common but reported a rare case of autosomal recessive inheritance. That report did not address the autosomal-dominant form, and no drug intervention or treatment was mentioned in any of the three abstracts.
No clinical trials, no drug repurposing data, no survival or response rates, and no molecular targets are available in these abstracts. What is missing is any genetic confirmation of the autosomal-dominant subtype, any systematic patient registry, any preclinical model for drug screening, and any funding for natural history studies that could identify endpoints for future trials.
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 · 1997 · 43 citations
Family with “pure” hair-nail ectodermal dysplasia
Abstract"Pure" ectodermal dysplasias are developmental disorders affecting only tissues of ectodermal origin. Two different pure ectodermal dysplasias involving only hair and nails have been described to date. Here we describe congenital nail dystrophy and hypotrichosis associated with folliculitis decalvans in a family suggesting autosomal-dominant transmission. This report documents peculiar clinical and ultrastructural hair findings that fit poorly into previously described conditions. Thus the reported patients could represent a new type of pure ectodermal dysplasia.
American Journal of Medical Genetics Part C Seminars in Medical Genetics · 2004 · 6 citations
Molecular genetics of hereditary hair and nail disease
AbstractHair and nail development have many similarities and are likely to share many developmental pathways. This is evident from the ectodermal dysplasias that affect both appendages. Of special interest are syndromic disorders as they show the effects of disturbances in molecular pathways that are essential for normal embryonic development. In this review, recent results from studies of syndrome affecting hair and nail development will be discussed.
IP Indian Journal of Clinical and Experimental Dermatology · 2022 · 1 citations · open access
Hypohidrotic ectodermal dysplasia- A case series demonstrating indistinguishable phenotypes produced by autosomal recessive and x-linked forms
AbstractEctodermal dysplasia (ED) is a rare hereditary disorder involving two or more of the ectodermal structures, which include the skin, hair, nails, teeth, and sweat glands. Hypohidrotic ectodermal dysplasia (HED) is the most common type of ED. HED is usually an X-linked recessive (XLR) disorder affecting predominantly males. However, Autosomal recessive (AR) and Autosomal dominant (AD) forms have been described in rare cases. Here, we report three cases of HED showing different patterns of inheritance with similar phenotypes; one with a classic X-linked inheritance and the other two include female siblings with an Autosomal recessive inheritance.
Anwer Khan Modern Medical College Journal · 2014 · 0 citations · open access
Hereditary Anhidrotic Ectodermal Dysplasia - A case report
AbstractEctodermal dysplasia is a hereditary disorder that occurs as a consequence of disturbances in the ectoderm of the developing embryo. The triad of nail dystrophy, alopecia or hypotrichosis and palmoplantar hyperkeratosis is usually accompanied by a lack of sweat glands and a partial or complete absence of primary and/or permanent dentition. Ectodermal dysplasia is a rare genetic disorder and X-linked recessive inheritance is most commonly seen. But we are reporting a rare case of autosomal recessive inheritance of Ectodermal dysplasia in here. DOI: http://dx.doi.org/10.3329/akmmcj.v5i1.18845 Anwer Khan Modern Medical College Journal Vol. 5, No. 1: January 2014, Pages 51-53
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.
