DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Simpson-Golabi-Behmel syndrome type 1 — 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 moduleSimpson-Golabi-Behmel syndrome type 1 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 simpson-golabi-behmel syndrome type 1 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
glypican 3 (GPC3) — GPC3 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 apo structuredrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 7ZAW · 2.58 Å · ligand none (apo structure). Experimental structure, not a prediction.
What the evidence adds up to
Simpson-Golabi-Behmel syndrome type 1 is a rare X-linked overgrowth disorder defined by pre- and postnatal overgrowth, macrocephaly, organomegaly, distinctive craniofacial features, and multiple congenital abnormalities affecting the skeleton, heart, central nervous system, kidney, and gastrointestinal tract. The condition is associated with genomic rearrangements and point mutations in the glypican-3 gene (GPC3) at Xq26, and occasionally the glypican-4 gene (GPC4). Glypicans are heparan sulfate proteoglycans involved in control of cell growth and cell division. The clinical spectrum ranges from very mild to fatal forms, especially in affected males, and some carrier females may show expression. Intellectual disability and speech delay are sometimes present, but a considerable number of individuals have normal intelligence.
A 2013 report described two male siblings with typical features including macrocephaly, macroglossia, postaxial polydactyly, multiple accessory nipples, hepatomegaly, and congenital heart disease. Both had bilateral anterior helical ear pits and characteristic posterior ear lobule creases. The older sibling had severe mental retardation and died at 13 months from bronchopneumonia; the younger sibling was 7 months old with normal mentality. Their mother was described as broad, stocky, and tall. A 1992 and a 1993 report each added a sporadic patient with novel manifestations, contributing to further delineation of the syndrome.
A 2019 chapter noted that SGBS is the only condition in its book with X-linked inheritance and possible expression in carrier females, subdividing the clinical phenotype into males and females. A 2024 case report emphasised the wide spectrum of signs and symptoms, from mild to fatal, and described clinical, paraclinical, therapeutic, and monitoring modalities for this possibly serious syndrome. No therapeutic trials, drug interventions, or quantitative survival or response rates are reported in any of these abstracts.
What is still missing is any clinical trial testing a drug for SGBS type 1, any systematic patient stratification by genotype or severity, and any funding directed toward interventional research rather than case description and syndrome delineation.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Orphanet Journal of Rare Diseases · 2014 · 103 citations · open access
Simpson-Golabi-Behmel syndrome types I and II
AbstractSimpson-Golabi-Behmel syndrome (SGBS) is a rare overgrowth syndrome clinically characterized by multiple congenital abnormalities, pre/postnatal overgrowth, distinctive craniofacial features, macrocephaly, and organomegaly. Abnormalities of the skeletal system, heart, central nervous system, kidney, and gastrointestinal tract may also be observed. Intellectual disability, early motor milestones and speech delay are sometimes present; however, there are a considerable number of individuals with normal intelligence. Genomic rearrangements and point mutations involving the glypican-3 gene ( GPC3 ) at Xq26 have been shown to be associated with SGBS. Occasionally, these rearrangements also include the glypican-4 gene ( GPC4 ). Glypicans are heparan sulfate proteoglycans which have a role in the control of cell growth and cell division. Although a lethal and infrequent form (also known as SGBS type II) has been described, only the classical form of SGBS is reviewed in this work, whereas only some specific features on SGBS type II are commented. We review all clinical and molecular aspects of this rare disorder, updating many topics and suggest a follow-up scheme for geneticists and primary care clinicians.
American Journal of Medical Genetics · 1992 · 32 citations
Further delineation of the Simpson‐Golabi‐Behmel (SGB) syndrome
AbstractThe Simpson-Golabi-Behmel syndrome is an X-linked condition characterized by pre- and postnatal overgrowth, "coarse" face, postaxial polydactyly, midline defects, and psychomotor development ranging from normal to mildly retarded. We report on an additional sporadic patient with novel manifestations, contributing to a more thorough delineation of this syndrome.
American Journal of Medical Genetics · 1993 · 25 citations
Further delineation of the Simpson‐Golabi‐Behmel (SGB) syndrome
AbstractThe Simpson-Golabi-Behmel syndrome is an X-linked condition characterized by pre- and postnatal overgrowth, "coarse" face, postaxial polydactyly, midline defects, and psychomotor development ranging from normal to mildly retarded. We report on an additional sporadic patient with novel manifestations, contributing to a more thorough delineation of this syndrome.
Egyptian Journal of Medical Human Genetics · 2013 · 3 citations · open access
Intrafamilial variability in Simpson–Golabi–Behmel syndrome with bilateral posterior ear lobule creases
AbstractWe report a family having two male sibs with Simpson–Golabi–Behmel syndrome (SGBS). Both have many typical features of the syndrome. These features included macrocephaly, macroglossia, post axial polydactyl of the left hand, bilateral low insertion of the thumb, multiple accessory nipples, hepatomegaly, and congenital heart. The patients have bilateral anterior helical ear pits, and characteristic posterior ear lobule creases. The older one has severe mental retardation and died at the age of 13 months with bronchopneumonia, and the younger one is 7 months old with normal mentality. The mother looks broad, stocky, and tall.
Oxford University Press eBooks · 2019 · 0 citations
Simpson-Golabi-Behmel Syndrome
AbstractSimpson-Golabi-Behmel syndrome was described independently by three groups of authors and eventually received its current designation by the author of this chapter. Among all the conditions described in this book, it is the only one to have X-linked inheritance, with possible expression in some carrier females. Therefore, the description of the clinical phenotype is subdivided into two parts, one pertaining to males, the other to females. Typically present in both affected males and females is a “coarseness” of the facial traits, in addition to a number of congenital malformations that can affect the heart, the diaphragm, and the skeleton. Differential diagnosis and recurrence risks are clearly delineated. The genetic cause is described in detail and the pathogenic mechanism is illustrated by an explanatory cartoon.
Scholars Journal of Medical Case Reports · 2024 · 0 citations · open access
Simpson Golabi Behmel Syndrome: A New Case and Review of the Literature
AbstractSimpson Golabi Behmel Syndrome (SGBS) is a rare syndrome characterized clinically by multiple congenital anomalies, pre and postnatal overgrowth, characteristic craniofacial anomalies, macrocephaly, and organomegaly associated with abnormalities of the skeletal system. On the molecular level, there are genomic rearrangements involving point mutations of the glypican-3 (GPC3) gene at Xq26. The spectrum of signs and symptoms associated with SGBS is wide, ranging from very mild to fatal forms, especially in affected men. We report a rare case of a child affected by SGBS type 1, emphasizing the clinical, paraclinical, therapeutic and monitoring modalities of this possibly serious 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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