Phenotype expansion
kidney and urinary tract
1 supporting source
confidence 97%
novelty 90%
New observation reported: In conclusion, this patient presented with both kidney cystic lesions and diabetes and had a family history of…
A source describes a new or expanded observation: “In conclusion, this patient presented with both kidney cystic lesions and diabetes and had a family history of kidney cystic lesion and diabetes, which are HNF1B-associated phenotypes, and genetic analysis revealed a novel variant of HNF1B.”
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:dff238.
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)
A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Frame Deletion of HNF1B .
peer_reviewed
· published 2024-09-11
· live page
In conclusion, this patient presented with both kidney cystic lesions and diabetes and had a family history of kidney cystic lesion and diabetes, which are HNF1B-associated phenotypes, and genetic analysis revealed a novel variant of HNF1B.
Supporting documents (1)
| Document | Source | Published | Seen | Relevance |
|---|---|---|---|---|
| A Korean Family Presenting with Renal Cysts and Maturity-Onset Diab... | pubmed | 2024-09-11 | yesterday | 1.00 |