Phenotype expansion
kidney and urinary tract
1 supporting source
confidence 97%
novelty 90%
New observation reported: Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the …
A source describes a new or expanded observation: “Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the HNF1B gene and literature review.”
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:0acdd2.
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 (2 quotes)
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 2024-01-01
· live page
Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: A CASE report of a novel mutation in the HNF1B gene and literature review.
Precision treatment of beta-cell monogenic diabetes: a systematic review
peer_reviewed
· published 2024-01-01
· live page
Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the HNF1B gene and literature review.
Supporting documents (2)
| Document | Source | Published | Seen | Relevance |
|---|---|---|---|---|
| Precision treatment of beta-cell monogenic diabetes: a systematic review | pmc | 2024-01-01 | yesterday | 1.00 |
| A Korean Family Presenting with Renal Cysts and Maturity-Onset Diab... | pmc | 2024-01-01 | yesterday | 1.00 |