Phenotype expansion
kidney and urinary tract
1 supporting source
confidence 97%
novelty 90%
New observation reported: Emerging evidence describes a "paradoxical" phenomenon where specific LoF mutations, initially causing hyperin…
A source describes a new or expanded observation: “Emerging evidence describes a "paradoxical" phenomenon where specific LoF mutations, initially causing hyperinsulinemic hypoglycemia in infancy, predispose individuals to glucose intolerance or frank diabetes in later life, often classified as Maturity-Onset Diabetes of the Young (MODY) subtype 12 (”
How this was derived
Flagged by novelty language (“for the first time”, “expands the phenotype”, …) in pmc.
Generated 2026-11-13, last changed
yesterday. Dedup key expansion:ec8eed.
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)
The Genetic Landscape and Precision Medicine in Neonatal Diabetes Mellitus: From Molecular Mechanisms to Clinical Management
peer_reviewed
· published 2026-01-01
· live page
Emerging evidence describes a "paradoxical" phenomenon where specific LoF mutations, initially causing hyperinsulinemic hypoglycemia in infancy, predispose individuals to glucose intolerance or frank diabetes in later life, often classified as Maturity-Onset Diabetes of the Young (MODY) subtype 12 (associated with ABCC8) [ 21 , 22 ].
Supporting documents (1)
| Document | Source | Published | Seen | Relevance |
|---|---|---|---|---|
| The Genetic Landscape and Precision Medicine in Neonatal Diabetes M... | pmc | 2026-01-01 | yesterday | 1.00 |