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.
Claim at a glance
- Type
- clinical association
- Knowledge state
- Emerging
- Evidence certainty
- low (GRADE)
- Evidence
- 1 source(s)
- Answers
- 1 question(s)
- Dates
- 2026-05-31 → 2026-05-31
Structured evidence, machine-compiled — not a verdict.
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)
- AKR1C1 and hormone metabolism in lipedema pathogenesis: a computational biology approach — Kaftalli J et al. (2023) ✓ verified — consistent · basic science · 2023 · reading confidence: high
“Três variantes missense em AKR1C1 identificadas em pacientes com lipedema: Leu54Val (L54V), Leu54Phe (L54F) e Asn280Lys (N280K) — todas disruptivas à função enzimática”
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
Gaps & caveats
Auto-ingested single source; not yet human-reviewed.
Change log
- 2026-05-31 — created · auto-ingested for SQ-LIP-000025