SCR-LIP-000241 · Claim · machine-readable JSON →

Targeted NGS and molecular dynamics simulations identified three missense AKR1C1 variants (L54V, L54F, N280K) in lipedema patients that disrupt substrate or cofactor (NADP+) binding, and screening of gnomAD identified 8 rare AKR1C1 polymorphisms as potentially pathogenic, extending AKR1C1 as a candidate gene for autosomal dominant non-syndromic lipedema.

Created: 2026-05-31 · Last updated: 2026-05-31

Auto-compiled by the Layer 1 surveillance loop; not yet human-reviewed. anthropic/claude-opus-4.8 · 2026-05-31

Evidence over time

Evidence (1)

• DOI:10.26355/eurrev_202312_34698 — supporting · basic science · 2023
  The article directly identifies specific AKR1C1 genetic variants in lipedema patients and characterizes their predicted pathogenicity via computational/structural biology, directly addressing the question on genetic variants. Confidence is

Context (PECO)

Answers these questions

• What specific genetic variants or inheritance patterns have been identified in lipedema? supporting

Gaps & caveats

Auto-ingested single source; not yet human-reviewed.

Change log

• 2026-05-31 — created · auto-ingested for SQ-LIP-000025

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