Rare & Orphan Lab · DeCure for X

DeCure for Noonan syndrome-like disorder with loose anagen hair

DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Noonan syndrome-like disorder with loose anagen hair — 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 module2 genesLead labRare & Orphan
All cures
Rare & OrphanDOID:0080691$DeCureRare

The disease map

Disease moduleNoonan syndrome-like disorder with loose anagen hair 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 noonan syndrome-like disorder with loose anagen hair 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

SHOC2 leucine rich repeat scaffold protein (SHOC2)SHOC2 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 gtpdrag to rotate · scroll to zoom

RCSB Protein Data Bank · entry 7UPI · 2.89 Å · ligand GUANOSINE-5'-TRIPHOSPHATE (GTP). Experimental structure, not a prediction.

What the evidence adds up to

Three children with short stature, the same facial phenotype, macrocephaly, enlarged cerebral spinal fluid spaces, short neck with redundant skin, severe GH deficiency, mild psychomotor delay with attention deficit/hyperactivity disorder, mild dilatation of the pulmonary root in two of them, and a unique combination of ectodermal abnormalities were presented in 2003. Their appearance was not completely typical of Noonan syndrome, and the behavioural phenotype, GH deficiency, darkly pigmented and hairless skin, and the unusual aspect of the hair, defined as loose anagen hair syndrome, did not fit any known condition. The authors postulated that these children represented a distinct, previously unreported syndrome named "Noonan-like syndrome with loose anagen hair".

A 4½-year-old girl affected by loose anagen hair and Noonan's syndrome was reported in 2009. She had short, blond, easily pluckable hair that had never been cut. The trichogram showed an absolute prevalence of abnormally shaped anagen bulbs lacking inner and outer root sheaths. A scalp biopsy evidenced a marked cleft formation between fragmented inner root sheaths and irregularly shaped hair shafts.

A 2025 review states that loose anagen hair syndrome is a rare, non-scarring form of childhood alopecia characterised by weakly anchored anagen-phase hairs that are easily and painlessly plucked. Affected individuals present with symptoms such as increased hair shedding, sparse hair, and infrequent haircuts. The review reports that the incidence is two per million, though underreporting may contribute to this underestimate. While some cases improve with puberty, this improvement may be influenced by changes in personal grooming rather than biological development. The review concludes that currently, effective treatment is not consistently successful.

No drug treatment is mentioned in any of these abstracts. What is still missing is any controlled trial of a pharmacological intervention, any validated biomarker for stratifying patients by severity or genetic subtype, and dedicated funding for a condition whose estimated incidence is two per million.

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 Part A · 2003 · 96 citations

Noonan‐like syndrome with loose anagen hair: A new syndrome?

AbstractWe present three children with short stature, the same facial phenotype, macrocephaly, enlarged cerebral spinal fluid spaces, short neck with redundant skin, severe GH deficiency, mild psychomotor delay with attention deficit/hyperactivity disorder (ADHD), mild dilatation of the pulmonary root in two of them, and a unique combination of ectodermal abnormalities. Their appearance, not completely typical of Noonan syndrome, the behavioral phenotype, GH deficiency, darkly pigmented and hairless skin, and the unusual aspect of the hair, defined as loose anagen hair syndrome did not fit any known condition. We postulate that these children may represent a distinct, previously unreported syndrome that we would name "Noonan-like syndrome with loose anagen hair".

https://doi.org/10.1002/ajmg.a.10923
Dermatologica · 2009 · 29 citations

Loose Anagen Hair in a Child with Noonan’s Syndrome

AbstractWe report on a 4 1/2-year-old girl affected by loose anagen hair and Noonan's syndrome. The girl had short, blond, easily pluckable hair that had never been cut. The trichogram showed an absolute prevalence of abnormally shaped anagen bulbs lacking inner and outer root sheaths. A scalp biopsy evidenced a marked cleft formation between fragmented inner root sheaths and irregularly shaped hair shafts.

https://doi.org/10.1159/000247806
Iowa Research Online (The University of Iowa) · 2025 · 0 citations · open access

Uncovering the genetic contributions to the loose anagen hair phenotype

AbstractHair serves as a critical element of individual identity, playing a significant role in cultural, social, and sexual communication. Conditions affecting hair appearance, including hair loss, can profoundly impact self-esteem and psychological well-being. Loose Anagen Hair Syndrome is a rare, non-scarring form of childhood alopecia characterized by weakly anchored anagen-phase hairs that are easily and painlessly plucked. Affected individuals present with symptoms such as increased hair shedding, sparse hair, and infrequent haircuts. Despite reports suggesting that loose anagen hair syndrome incidence is two per million, underreporting may contribute to this underestimate. While some cases improve with puberty, this improvement may be influenced by changes in personal grooming rather than biological development. Currently, effective treatment is not consistently successful.

https://doi.org/10.25820/etd.007913

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.