Phenotype expansion
kidney and urinary tract
1 supporting source
confidence 97%
novelty 90%
New observation reported: In this report, we describe the diagnostic caveats, clinical features and long-term renal-trajectory of people…
A source describes a new or expanded observation: “In this report, we describe the diagnostic caveats, clinical features and long-term renal-trajectory of people with HNF1B mutations (HNF1B-MODY).”
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:28705f.
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)
MODY5 Hepatocyte Nuclear Factor 1ß (HNF1ß)-Associated Nephropathy: experience from a regional monogenic diabetes referral centre in Singapore.
peer_reviewed
· published 2022-01-01
· live page
In this report, we describe the diagnostic caveats, clinical features and long-term renal-trajectory of people with HNF1B mutations (HNF1B-MODY).
Supporting documents (1)
| Document | Source | Published | Seen | Relevance |
|---|---|---|---|---|
| MODY5 Hepatocyte Nuclear Factor 1ß (HNF1ß)-Associated Nephropathy: ... | pubmed | 2022-01-01 | yesterday | 1.00 |