DeCure for Noonan syndrome-like disorder with loose anagen hair 2
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Noonan syndrome-like disorder with loose anagen hair 2 — 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 moduleNoonan syndrome-like disorder with loose anagen hair 2 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 noonan syndrome-like disorder with loose anagen hair 2 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
Three children with short stature, macrocephaly, enlarged cerebral spinal fluid spaces, a short neck with redundant skin, severe growth hormone deficiency, mild psychomotor delay with attention deficit/hyperactivity disorder, and mild dilatation of the pulmonary root in two of them were described in 2003. Their appearance was not completely typical of Noonan syndrome, and they had darkly pigmented and hairless skin plus hair defined as loose anagen hair syndrome. The authors proposed the name "Noonan-like syndrome with loose anagen hair" for what they believed was a previously unreported condition.
A 12-year-old Brazilian boy with the p.Pro49Arg mutation in PPP1CB was reported in 2017 as the fifth individual described with that mutation, and the fourth with that same variant, suggesting a mutational hotspot. He had sparse, thin, slow-growing hair, similar to the ectodermal finding seen in Noonan syndrome-like disorder with loose anagen hair, and also presented craniosynostosis, a rare finding in RASopathies. A 2009 report described a four-and-a-half-year-old girl with Noonan's syndrome and loose anagen hair whose trichogram showed an absolute prevalence of abnormally shaped anagen bulbs lacking inner and outer root sheaths, and a scalp biopsy showed marked cleft formation between fragmented inner root sheaths and irregularly shaped hair shafts.
A 2025 review summarises Noonan-like syndrome with loose anagen hair as a RASopathy, distinguishing two genetically heterogeneous types: NSLH1 associated with SHOC2 mutations and NSLH2 associated with PPP1CB mutations. The review aims to increase physician awareness of genotype-phenotype correlations for genetic counselling, diagnosis, and development of new management methods. Another 2025 review notes that loose anagen hair syndrome incidence is reported as two per million, but underreporting may contribute to that figure; some cases improve with puberty, but that improvement may be influenced by changes in personal grooming rather than biological development, and effective treatment is not consistently successful.
What is still missing is a clear understanding of the natural history of the hair phenotype across the lifespan, reliable incidence data, and any consistently effective treatment. The genotype-phenotype correlations for NSLH1 and NSLH2 remain incompletely characterised, and no clinical trials have been conducted to test interventions for the hair or other features of the 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.
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".
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.
Вопросы современной педиатрии · 2025 · 0 citations · open access
Noonan-Like Syndrome with Loose Anagen Hair: Genetic and Phenotypic Variability, Differential Diagnosis
AbstractThe review summarizes the data on Noonan-like syndrome with loose anagen hair (NSLH) from the group of RASopathies. The genetic aspects of the syndrome, its pathogenesis, clinical signs, and comorbitant conditions are considered. Particular attention is paid to the differential diagnosis between two genetically heterogeneous types of NSLH associated with mutations in the SHOC2 gene (NSLH1) and in the PPP1CB gene (NSLH2). Clinical case description of the patient with confirmed NSLH1 is presented. This review is intended to increase physicians’ awareness specifically on NSLH genotype-phenotype correlations. This is crucial for genetic counseling, diagnosis, and development of new management and rehabilitation methods.
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.
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.
