{
  "id": "SCR-LIP-000238",
  "statement": "This systematic review reports that lipedema most likely follows autosomal dominant inheritance with incomplete penetrance and sex limitation (positive family history in up to 64% of women), identifies no confirmed gene for primary non-syndromic lipedema, and catalogs syndromic associations (POU1F1A c.196C>T p.Pro24Leu; NSD1 p.Cys2175Ser/Sotos; 7q11.23 deletion/Williams-Beuren with ELN, FZD9, MLXIPL; ABCC6/PXE; ALDH18A1/cutis laxa III) plus 17 GWAS/animal-model candidate genes (e.g., LYPLAL1, TBX15, HOXC13, RSPO3, VEGFA, PROX1, VEGFR3, PRDM16).",
  "statement_pt": "Esta revisão sistemática relata que o lipedema provavelmente segue herança autossômica dominante com penetrância incompleta e limitação sexual (história familiar positiva em até 64% das mulheres), não identifica um gene confirmado para o lipedema primário não-sindrômico e cataloga associações sindrômicas (POU1F1A c.196C>T p.Pro24Leu; NSD1 p.Cys2175Ser/Sotos; deleção 7q11.23/Williams-Beuren com ELN, FZD9, MLXIPL; ABCC6/PXE; ALDH18A1/cutis laxa III) além de 17 genes candidatos de GWAS/modelos animais (ex.: LYPLAL1, TBX15, HOXC13, RSPO3, VEGFA, PROX1, VEGFR3, PRDM16).",
  "claim_type": "clinical_association",
  "context": {
    "population": "—",
    "condition": "lipedema",
    "exposure": "—",
    "comparator": "—",
    "outcome": "—",
    "scope": "auto-ingested from Layer 1 surveillance"
  },
  "knowledge_state": "emerging",
  "evidence_confidence": "moderate",
  "evidence": [
    {
      "ref": "DOI:10.26355/eurrev_201907_18292",
      "stance": "supporting",
      "study_design": "review",
      "n": null,
      "risk_of_bias": "unknown",
      "grade": "very_low",
      "year": 2019,
      "amato_authored": false,
      "note": "The article directly addresses the question by reviewing inheritance patterns and specific genetic variants/candidate genes in lipedema, including the proposed autosomal dominant mode and named syndromic mutations and GWAS candidates. [grade capped moderate->very_low per curated Oxford N6]",
      "_prov": {
        "grade_source": "bib_curated"
      }
    }
  ],
  "relations": [],
  "gaps": "Auto-ingested single source; not yet human-reviewed.",
  "primary_amato_source": null,
  "curators": [],
  "provenance": {
    "auto": true,
    "engine": "anthropic/claude-opus-4.8",
    "question": "SQ-LIP-000025",
    "source": "library",
    "ingested": "2026-05-31"
  },
  "created": "2026-05-31",
  "updated": "2026-05-31",
  "history": [
    {
      "date": "2026-05-31",
      "event": "created",
      "detail": "auto-ingested for SQ-LIP-000025"
    }
  ],
  "license": "CC-BY-4.0",
  "answers_questions": [
    {
      "id": "SQ-LIP-000025",
      "role": "supporting",
      "question": "What specific genetic variants or inheritance patterns have been identified in lipedema?",
      "url": "https://scientificclaims.org/q/SQ-LIP-000025.html"
    }
  ],
  "url": "https://scientificclaims.org/c/SCR-LIP-000238.html"
}