Phenotype expansion
kidney and urinary tract
1 supporting source
confidence 97%
novelty 90%
New observation reported: A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial de…
A source describes a new or expanded observation: “A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta.”
How this was derived
Flagged by novelty language (“for the first time”, “expands the phenotype”, …) in pubmed.
Generated 2026-11-13, last changed
today. Dedup key expansion:1c466a.
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)
New case of syncytial giant-cell variant of hepatocellular carcinoma in a pediatric patient with HNF1B deficiency: does it fit with the syndrome?
peer_reviewed
· published 2022-12-01
· live page
A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta.
School level of children carrying a HNF1B variant or a deletion.
peer_reviewed
· published 2020-01-01
· live page
A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta.
Supporting documents (2)
| Document | Source | Published | Seen | Relevance |
|---|---|---|---|---|
| School level of children carrying a HNF1B variant or a deletion. | pubmed | 2020-01-01 | yesterday | 1.00 |
| New case of syncytial giant-cell variant of hepatocellular carcinom... | pubmed | 2022-12-01 | yesterday | 1.00 |