DeCure for Autosomal recessive cutis laxa type 2, classic type
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for autosomal recessive cutis laxa type 2, classic type — screening already-approved drugs against its 3-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleAutosomal recessive cutis laxa type 2, classic type maps to a 3-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 autosomal recessive cutis laxa type 2, classic type 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
ATPase H+ transporting V1 subunit A (ATP6V1A) — ATP6V1A 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 adpdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 6WLZ · 2.9 Å · ligand ADENOSINE-5'-DIPHOSPHATE (ADP). Experimental structure, not a prediction.
What the evidence adds up to
Six patients with congenital cutis laxa, ligamentous laxity and delayed development were described in 1983, bringing the total reported cases to thirteen. All thirteen were female. Congenital dislocation of the hips, wide patency and delayed closure of the anterior fontanel, and delayed intrauterine and extrauterine growth and development were characteristic. The authors suggested inheritance could be autosomal recessive or X-linked dominant lethal in males.
In 1985, four individuals from two families were reported. Family A contained a single affected male child with developmental delay and ligamentous laxity, only the second male among fifteen patients then known with that syndrome. Family B had three affected males, two with significant involvement of other systems. Only one of the four children had very obvious loose skin folds. The pedigree suggested recessive inheritance in Family B but was inconclusive in Family A.
A 2002 report described seven members of a North Indian family affected by the autosomal dominant variant of congenital cutis laxa. The authors noted that autosomal dominant cutis laxa is usually not associated with systemic defects and has a good prognosis. They suggested monitoring the cardiorespiratory systems to detect rare systemic complications.
A 2020 report described a thirteen-month-old patient with autosomal recessive cutis laxa type IIIA, caused by pathogenic variants in ALDH18A1. The patient had an extremely severe phenotype including novel neurological findings. The authors stated that autosomal recessive variants in ALDH18A1 are known to lead to the most severe neurological phenotype, and very few patients have been described. What remains missing is a larger patient series to define the full neurological spectrum, systematic long-term follow-up data for the recessive forms, and any clinical trial testing a treatment for any subtype of cutis laxa.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
PEDIATRICS · 1983 · 42 citations
Syndrome of Cutis Laxa Ligamentous Laxity and Delayed Development
AbstractCongential cutis laxa with ligamentous laxity and delayed development appears to be a distinct syndrome. Experience with six patients brings the total number of cases described to 13. Characteristics of the syndrome include congenital dislocation of the hips, wide patency and delayed closure of the anterior fontanel, and delayed intrauterine growth and extrauterine growth and development. Each of the 13 patients has been female. Inheritance may be as an autosomal recessive or an X-linked dominant lethal in the male.
AbstractWe present 2 families with 4 individuals suffering from congenital cutis laxa. Family A has a single affected male child with developmental delay and ligamentous laxity, making this only the second male of the total 15 patients so far reported with this particular syndrome. Family B has 3 affected males, 2 of whom have significant involvement of other systems. Only one of the 4 affected children had very obvious loose skin folds and dependency on this clinical feature alone could result in under-diagnosis of this disease. The clinical features and family pedigree information suggests recessive inheritance in Family B but the mode of inheritance in Family A is inconclusive.
Cutis Laxa in Seven Members of a North‐Indian Family
AbstractCongenital cutis laxa, characterized by cutaneous laxity and loose skin, may be autosomal dominant or autosomal recessive. The autosomal dominant variety is usually not associated with any systemic defects and has a good prognosis. We report an unusual family in which seven members were affected by the autosomal dominant variant of this disorder. We suggest that close monitoring of the cardiorespiratory systems may be worthwhile to detect any systemic complications, although these complications are rare in the autosomal dominant variant of cutis laxa.
Neuropediatrics · 2020 · 3 citations · open access
Expanding the Spectrum of Neurological Manifestations in Cutis Laxa, Autosomal Recessive, Type IIIA
AbstractAbstract Cutis laxa is a heterogeneous group of diseases, characterized by abundant and wrinkled skin and a variable degree of intellectual disability. Cutis laxa, autosomal recessive, type IIIA and autosomal dominant 3 syndromes are caused by autosomal recessive or de novo pathogenic variants in ALDH18A1. Autosomal recessive variants are known to lead to the most severe neurological phenotype, and very few patients have been described. We describe a 13-month-old patient with cutis laxa, autosomal recessive, type IIIA, with an extremely severe phenotype, including novel neurological findings. This description enlarges the neurological spectrum associated to cutis laxa, autosomal recessive, type IIIA, and provides an additional description of this syndrome.
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.
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