DeCure for Hereditary thrombophilia due to congenital protein S deficiency
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for hereditary thrombophilia due to congenital protein S deficiency — 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 moduleHereditary thrombophilia due to congenital protein S deficiency 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 hereditary thrombophilia due to congenital protein s deficiency 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
Hereditary thrombophilia due to congenital protein S deficiency is directly caused by defects in the protein S gene. In one study of six unrelated families, Southern blotting identified a partial deletion of the middle portion of the protein S coding sequence in one proband, and family analysis showed the defect cosegregated with the deficiency. This supports the idea that the thrombophilia is the result of a gene defect rather than a secondary phenomenon.
Protein S deficiency accounts for approximately 8% of familial thrombophilia cases. Among 36 consecutive patients with repetitive superficial thrombophlebitis, protein S deficiency was detected in 5.5%. In a paediatric review of 35 cases with a first thrombotic episode before age 18 (mean age 10 years), 57% had venous thrombosis, 20% arterial thrombosis, 14% both, and in 9% the type was not reported. Predisposing factors were noted in only 12 of those cases. The deficiencies were classified as type I in 25 patients and type III in 8.
A 13-year-old boy with hereditary protein S deficiency developed deep vein thrombosis of the lower limb after varicella with severe cutaneous lesions. Thrombotic events in paediatric patients are seldom described. In a case of an infant born to a mother with suspected protein S deficiency, the infant had a normal baseline coagulation profile for age and no thrombotic event during the neonatal period, raising the question of whether screening is warranted.
What is still missing is a clear evidence base for when to screen asymptomatic individuals, particularly infants and children, and how to stratify risk in those with a genetic defect but no thrombotic event. No randomised trials have established whether screening reduces thrombotic outcomes, and the natural history of asymptomatic carriers remains poorly defined.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Blood · 1989 · 51 citations · open access
Partial protein S gene deletion in a family with hereditary thrombophilia
AbstractFamilial thrombophilia, the hereditary predisposition to venous thromboembolic disease, is associated with a protein S deficiency in approximately 8% of the cases. Laboratory measurements of total protein S antigen in affected families have indicated that heterozygotes, ie, individuals carrying both a normal and a defective protein S gene, are severely at risk of developing venous thrombosis at a young age. The recent isolation of protein S cDNA has enabled us to start a search for genetic defects in the protein S gene of heterozygotes. Using Southern blotting on probands of six unrelated families with hereditary protein S deficiency, one proband was found to have a grossly abnormal gene pattern. The abnormality appears to involve at least the deletion of the middle portion of the protein S coding sequence. Family analysis showed that the defect cosegregates with the protein S deficiency. These data agree with the notion that hereditary thrombophilia associated with protein S deficiency is indeed directly the result of a defect in the protein S gene.
Clinical and Applied Thrombosis/Hemostasis · 2003 · 26 citations · open access
Protein S Deficiency in Repetitive Superficial Thrombophlebitis
AbstractProtein S deficiency is one of the principal congenital thrombophilias reported. The objective of this study was to assess the prevalence of protein S deficiency in patients with repetitive superficial thrombophlebitis. Thirty-six consecutive patients, 28 female and eight male, who presented with repetitive superficial thrombophlebitis (two or more cases); age range, 17 to 58 years, mean, 38.2 years; were evaluated. Coagulometry was used to determine the biologic activity of protein S. In 5.5% of the patients with repetitive superficial thrombophlebitis, protein S deficiency was detected.
American Journal of Hematology · 1994 · 17 citations
Deep vein thrombosis in a 13‐year‐old boy with hereditary protein S deficiency and a review of the pediatric literature
AbstractWe report a 13-year-old boy with hereditary deficiency of protein S, who developed a deep vein thrombosis of the lower limb after a varicella with severe cutaneous lesions. Hereditary protein S deficiency is an established cause of thrombophilia; however thrombotic events are seldom described in pediatric patients. A review of previous literature revealed 35 cases, 16 girls and 19 boys, with a first episode below of the age of 18 years old (x = 10y). The 57% of the patients had venous thrombosis, 20% arterial thrombosis, and 14% both and in 9% the type of thrombosis was not reported. Predisposing factors were referred in only 12 cases. The deficiencies can be classified as type I in 25 patients and type III in 8.
Malaysian Journal of Paediatrics and Child Health · 2024 · 0 citations · open access
Contemplating Screening for Protein S Deficiency: To Screen or Not?
AbstractProtein S (PS) deficiency is a thrombophilia disorder due to the reduced activity of protein S which regulates coagulation function leading to venous thromboembolism (VTE) event. It is an autosomal dominant disorder whereby it can be heterozygous or homozygous. A positive family history of protein S deficiency is a significant risk factor for developing thromboembolism. We report a case of an infant born to a mother with suspected protein S deficiency. The dilemma is whether we should screen this infant for protein S deficiency. His baseline coagulation profile was normal according to age and had no thrombotic event throughout his neonatal period.
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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