Rare & Orphan Lab · DeCure for X

DeCure for Intellectual disability, autosomal dominant 10

DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for intellectual disability, autosomal dominant 10 — 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 module1 genesLead labRare & Orphan
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Rare & OrphanDOID:0070040$DeCureRare

The disease map

Disease moduleIntellectual disability, autosomal dominant 10 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 intellectual disability, autosomal dominant 10 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

calcium voltage-gated channel auxiliary subunit gamma 2 (CACNG2)CACNG2 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 gludrag to rotate · scroll to zoom

RCSB Protein Data Bank · entry 6DLZ · 3.9 Å · ligand GLUTAMIC ACID (GLU). Experimental structure, not a prediction.

What the evidence adds up to

Intellectual disability affects 3 to 28 percent of the general population, with a genetic cause identified in a subset of cases: single-gene disorders account for up to 12 percent, multifactorial disorders for up to 4 percent, and genetic disorders for up to 8.5 percent. One case report describes a 15-year-old boy with intellectual disability and inappropriate, challenging sexual behaviour that did not respond to traditional treatments. He was treated with GNRH analogues; the report aims only to show an alternative treatment approach, not to claim efficacy. No controlled data, response rates, or follow-up durations are given.

A separate case report identifies a heterozygous nonsense c.40C>T (p.Arg14X) variant of the TRIP12 gene, de novo, in a patient with intellectual disability. This variant was classified as pathogenic under ACMG criteria (PVS1+PS2+PP3) and was not previously recorded in the Human Gene Mutation Database. The diagnosis was autosomal dominant intellectual disability due to the TRIP12 variant. No treatment or outcome data are provided for this patient.

One study describes a pregnant woman with intellectual disability who carried a chromosomal microdeletion 46,XX,del(11)(q24); her fetus inherited the same deletion and both were diagnosed with Jacobsen syndrome. The paper demonstrates that combined cytogenetic and molecular techniques (G-banding, SNP-array, FISH) can diagnose such cases, but offers no therapeutic intervention. A review article on homoeopathic management states its purpose is to find effectiveness of homoeopathic medicine for intellectual disability, but provides no patient data, no results, and no evidence of efficacy.

What is still missing: no randomised trials, no standardised outcome measures, no validated biomarkers for patient stratification, and no funding for large-scale studies of any pharmacological or behavioural intervention for this specific genetic subtype.

Evidence

Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.

Current Pediatric Reviews · 2021 · 12 citations · open access

Pediatrics for Disability: A Comprehensive Approach to Children withSyndromic Psychomotor Delay

AbstractIntellectual disability is the impairment of cognitive, linguistic, motor and social skills that occurs in the pediatric age and is also described by the term "mental retardation". Intellectual disability occurs in 3-28 % of the general population due to a genetic cause, including chromosome aberrations. Among people with intellectual disabilities, the cause of the disability was identified as a single gene disorder in up to 12 %, multifactorial disorders in up to 4 %, and genetic disorders in up to 8.5 %. Children affected by a malformation syndrome associated with mental retardation or intellectual disability represent a care challenge for the pediatrician. A multidisciplinary team is essential to manage the patient, thereby controlling the complications of the syndrome and promoting the correct psychophysical development. This requires continuous follow-up of these children by the pediatrician, which is essential for both the clinical management of the syndrome and facilitating the social integration of these children.

https://doi.org/10.2174/1573396317666211129093426
Psychopharmacology Bulletin · 2025 · 2 citations · open access

Case Report: A Case of Intellectual Disability with Inappropriate and Challenging Sexual Behavior that was Treated with GNRH Analogues

AbstractIntellectual Disability starts within the course of developmental stages and covers both intellectual and adaptive deficiencies in conceptual, social and applied fields. Individuals with intellectual disability experience many difficulties in social life due to challenging and inappropriate sexual behaviour. Suchdifficulties need to be addressed, reduced or treated. Traditional treatments often fail to treat and improve suchbehavior. Alternative treatment options need to be explored with studies conducted in this field. With this paper, we aimed to show and touch on alternative treatments for challenging and inappropriate behaviors of a 15-year old boy with intellectual disability, who was treated with GNRH analogues.

https://doi.org/10.64719/pb.4607
PubMed · 2019 · 1 citations

[Prenatal diagnosis of Jacobsen syndrome in a fetus carried by a pregnant woman with intellectual disability].

AbstractOBJECTIVE: To assess the value of combined cytogenetic and molecular techniques for the prenatal diagnosis of a pregnant woman with intellectual disability (ID). METHODS: The fetus and its parents were subjected to G-banding karyotyping analysis, single nucleotide polymorphism array (SNP-array) and fluorescence in situ hybridization (FISH) analysis. RESULTS: G-banding karyotype analysis revealed that the woman has carried a chromosomal microdeletion 46,XX,del(11)(q24), and the fetus was a carrier of 46,XN,del(11)(q24)mat. Subsequent SNP-array and FISH analysis of the pregnant woman indicated that the microdeletion has mapped to 11q24.1-q25. Both the pregnant woman and her fetus were diagnosed with Jacobsen syndrome. CONCLUSION: Combined use of cytogenetic and molecular genetic techniques can facilitate diagnosis of patients with intellectual disability.

https://doi.org/10.3760/cma.j.issn.1003-9406.2019.08.018
International Journal of Homoeopathic Sciences · 2022 · 0 citations · open access

An overall review on intellectual disability disorder and its homoeopathic management

AbstractThe Intellectual Disability Disorder is found as a one of the clinical manifestations of the rare disorders which occupies a total prevalence of about 6 to 8% globally. The rare disorder is found to cause many of the chronic disabilities in which the intellectual disability disorder is one of them which has a drastic impact on the individual who is affected and their families and includes the health care system. The onset period of the rare disorder begins from the prenatal period into the late adulthood and it is being assessed that about the half of the individual affected are children [1]. The prime and the only purpose of this study undertaken is to find the effectiveness of the homoeopathic medicine in the treatment of the Intellectual Disability Disorder and also to alter their intellectual and the adaptive functions of the affected individual. The homoeopathic medicine will remove the disease from the root cause.

https://doi.org/10.33545/26164485.2022.v6.i3d.618
PubMed · 2021 · 0 citations

[Intellectual disability due to heterozygous c.40C>T variant of TRIP12 gene in a patient].

AbstractOBJECTIVE: To explore the genetic basis for a patient with intellectual disability. METHODS: Whole exome sequencing and Sanger sequencing were carried out for the patient. The result was verified in her family. RESULTS: DNA sequencing revealed that the patient has carried a heterozygous nonsense c.40C>T (p.Arg14X) variant of the TRIP12 gene, which was de novo in origin. The variant was unrecorded in the Human Gene Mutation Database. Based on the American College of Medical Genetics and Genomics standards and guidelines, the variant was predicted to be pathogenic (PVS1+ PS2+ PP3). CONCLUSION: The patient was diagnosed with autosomal dominant intellectual disability due to heterozygous c.40C>T variant of the TRIP12 gene.

https://doi.org/10.3760/cma.j.cn511374-20200211-00075

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.