Phenotype expansion
kidney and urinary tract
1 supporting source
confidence 97%
novelty 90%
New observation reported: The carrier of the other novel mutation (p.Leu145Argfs, #25) presented with diabetes, cystic kidneys, and addi…
A source describes a new or expanded observation: “The carrier of the other novel mutation (p.Leu145Argfs, #25) presented with diabetes, cystic kidneys, and additional genital system malformations: bicornuate uterus, hypoplasia of vaginal part of uteri cervix, hypoplasia of vagina, transverse vaginal septum.”
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:a87d87.
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)
Large Kidney Cysts in HNF1B Nephropathy Mimicking Autosomal Dominant Polycystic Kidney Disease.
peer_reviewed
· published 2024-01-01
· live page
The carrier of the other novel mutation (p.Leu145Argfs, #25) presented with diabetes, cystic kidneys, and additional genital system malformations: bicornuate uterus, hypoplasia of vaginal part of uteri cervix, hypoplasia of vagina, transverse vaginal septum.
Supporting documents (1)
| Document | Source | Published | Seen | Relevance |
|---|---|---|---|---|
| Large Kidney Cysts in HNF1B Nephropathy Mimicking Autosomal Dominan... | pubmed | 2024-01-01 | yesterday | 1.00 |