Phenotype expansion
kidney and urinary tract
1 supporting source
confidence 97%
novelty 90%
New observation reported: The first case was a girl (with whole‐gene deletion of HNF1B, #9) who presented with diabetes at 11 y.o., with…
A source describes a new or expanded observation: “The first case was a girl (with whole‐gene deletion of HNF1B, #9) who presented with diabetes at 11 y.o., with glycemia ~300 mg/dL, HbA1c concentration of 8%, and low but detectable concentration of C‐peptide (0.2 nmol/L with N: 0.4‐1.2 nmol/L).”
How this was derived
Flagged by novelty language (“for the first time”, “expands the phenotype”, …) in pubmed.
Generated 2026-11-14, last changed
today. Dedup key expansion:a43bda.
The engine re-checks this insight on every analysis run; if more sources agree, its corroboration and confidence go up and it reappears as “new”.
Evidence (1 quote)
Large Kidney Cysts in HNF1B Nephropathy Mimicking Autosomal Dominant Polycystic Kidney Disease.
peer_reviewed
· published 2024-01-01
· live page
The first case was a girl (with whole‐gene deletion of HNF1B, #9) who presented with diabetes at 11 y.o., with glycemia ~300 mg/dL, HbA1c concentration of 8%, and low but detectable concentration of C‐peptide (0.2 nmol/L with N: 0.4‐1.2 nmol/L).
Supporting documents (1)
| Document | Source | Published | Seen | Relevance |
|---|---|---|---|---|
| Large Kidney Cysts in HNF1B Nephropathy Mimicking Autosomal Dominan... | pubmed | 2024-01-01 | yesterday | 1.00 |