Phenotype expansion
kidney and urinary tract
1 supporting source
confidence 97%
novelty 90%
New observation reported: We report a 5 year old, end stage kidney disease patient with renal cysts and hypertriglyceridemia (in the abs…
A source describes a new or expanded observation: “We report a 5 year old, end stage kidney disease patient with renal cysts and hypertriglyceridemia (in the absence of overt diabetes) with a known pathogenic mutation in the Hepatocyte Nuclear Factor-1β ( HNF-1β ) gene on chromosome 17q12.”
How this was derived
Flagged by novelty language (“for the first time”, “expands the phenotype”, …) in pmc.
Generated 2026-11-13, last changed
today. Dedup key expansion:7c2f44.
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 Boy with End-Stage Kidney Disease and Hypertriglyceridemia
peer_reviewed
· published 2024-01-01
· live page
We report a 5 year old, end stage kidney disease patient with renal cysts and hypertriglyceridemia (in the absence of overt diabetes) with a known pathogenic mutation in the Hepatocyte Nuclear Factor-1β ( HNF-1β ) gene on chromosome 17q12.
Supporting documents (1)
| Document | Source | Published | Seen | Relevance |
|---|---|---|---|---|
| A Boy with End-Stage Kidney Disease and Hypertriglyceridemia | pmc | 2024-01-01 | yesterday | 1.00 |