Phenotype expansion
kidney and urinary tract
1 supporting source
confidence 97%
novelty 90%
New observation reported: Maturity-onset diabetes of the young type 5 (MODY5), causally associated with loss-of-function of the HNF1B ge…
A source describes a new or expanded observation: “Maturity-onset diabetes of the young type 5 (MODY5), causally associated with loss-of-function of the HNF1B gene, is a rare form of monogenic diabetes that has been underdiagnosed in part because microdeletions of chromosome 17q12 encompassing the HNF1B gene cannot be detected by sequencing-based ap”
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:5a474e.
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)
Case-based learning: a case of maturity-onset diabetes of the young 5 (MODY5) due to 17q12 microdeletion with a diminished plasma glucagon level
peer_reviewed
· published 2025-01-01
· live page
Maturity-onset diabetes of the young type 5 (MODY5), causally associated with loss-of-function of the HNF1B gene, is a rare form of monogenic diabetes that has been underdiagnosed in part because microdeletions of chromosome 17q12 encompassing the HNF1B gene cannot be detected by sequencing-based approaches, which accounts for about 50% of MODY5 cases.
Supporting documents (1)
| Document | Source | Published | Seen | Relevance |
|---|---|---|---|---|
| Case-based learning: a case of maturity-onset diabetes of the young... | pmc | 2025-01-01 | yesterday | 1.00 |