Kidneys, the pancreas and diabetes
The kidneys clean your blood and the pancreas controls sugar in your blood. The missing HNF1B gene can make both need extra care.
Your kidneys are two bean-shaped filters, about the size of your fist. They clean your blood and make urine (pipi). Some people with 17q12 deletion are born with kidneys that are shaped a bit differently or that don't drain well. Doctors can see this on a scan and keep them healthy.
Your pancreas is a small organ behind your stomach. It makes insulin, which is like a key that lets sugar from your food go into your cells so you have energy. Without enough insulin, sugar stays in the blood and that is called diabetes. Some people with 17q12 deletion get diabetes, sometimes as a kid, sometimes when they are older. It is treatable: doctors help with medicine, food and checking blood sugar.
Feeling thirsty a lot, needing to pee a lot, or losing weight without trying? Tell a grown-up and see a doctor - that is the important thing to know.
The newest thing we found: A source describes a new or expanded observation: “In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypoplasia, and multiple renal cysts, harboring a novel de novo HNF1B missense variant (p.Met160Thr) located within the POU-specific domain.”
Why one gene affects both
HNF1B is a transcription factor - a gene whose job is to switch other genes on and off while a baby is being made. It is switched on in the kidneys, the pancreas, the liver and parts of the reproductive system. That is why losing one copy can touch all of those places.
Doctors used to call this particular mix RCAD (Renal Cysts And diabetes) or MODY5. Now most of them just say "17q12 deletion", because it is the same missing page.
What the stories say, in numbers
- Kidneys and diabetes - 371 stories talk about this (22844 times in all).
What the newest stories say
Someone reported something new: In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypop…
A source describes a new or expanded observation: “In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypoplasia, and multiple renal cysts, harboring a novel de novo HNF1B missense variant (p.Met160Thr) located within the POU-specific domain.”
“In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypoplasia, and multiple renal cysts, harboring a novel de novo HNF1B missense variant (p.Met160Thr) located within the POU-specific domain.”found in 1 stories · we are 97% sure · updated 2026-11-14 · read it
Someone reported something new: We report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understandi…
A source describes a new or expanded observation: “We report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understanding of HNF1B -related phenotypes.”
“We report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understanding of HNF1B -related phenotypes.”found in 1 stories · we are 97% sure · updated 2026-11-14 · read it
Someone reported something new: Here, we report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our under…
A source describes a new or expanded observation: “Here, we report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understanding of HNF1B -related phenotypes.”
“Here, we report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understanding of HNF1B -related phenotypes.”found in 1 stories · we are 97% sure · updated 2026-11-14 · read it
Someone reported something new: The current study describes the first case of MODY 5 treated with the GLP-1RA, liraglutide, which exerted prot…
A source describes a new or expanded observation: “The current study describes the first case of MODY 5 treated with the GLP-1RA, liraglutide, which exerted protective effects against pancreatic beta cell dysfunction. [ 11 , 12 ] 2 Case report A 17-year-old woman with a 3-month history of thirst, polydipsia, and polyuria underwent urine glucose scre”
“The current study describes the first case of MODY 5 treated with the GLP-1RA, liraglutide, which exerted protective effects against pancreatic beta cell dysfunction. [ 11 , 12 ] 2 Case report A 17-year-old woman with a 3-month history of thirst, polydipsia,…”found in 1 stories · we are 97% sure · updated 2026-11-14 · read it
Someone reported something new: Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstru…
A source describes a new or expanded observation: “Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstructive uropathy (OU) had a lower CNV burden and an intermediate prevalence of GD-CNVs; and vesicoureteral reflux (VUR) had the fewest GD-CNVs but was enriched for novel exonic CNVs, particula”
“Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstructive uropathy (OU) had a lower CNV burden and an intermediate prevalence of GD-CNVs; and vesicoureteral reflux (VUR) had the fewest GD-CNVs but was…”found in 1 stories · we are 97% sure · updated 2026-11-14 · read it
Someone reported something new: Of note, for the first time, we describe the occurrence of medullary sponge kidney (MSK) in a family harboring…
A source describes a new or expanded observation: “Of note, for the first time, we describe the occurrence of medullary sponge kidney (MSK) in a family harboring the HNF1B whole-gene deletion at chromosome 17q12.”
“Of note, for the first time, we describe the occurrence of medullary sponge kidney (MSK) in a family harboring the HNF1B whole-gene deletion at chromosome 17q12.”found in 1 stories · we are 97% sure · updated 2026-11-14 · read it
Someone reported something new: We report a novel case of diabetes mellitus type MODY5 as a feature of 17q12 deletion syndrome caused by a new…
A source describes a new or expanded observation: “We report a novel case of diabetes mellitus type MODY5 as a feature of 17q12 deletion syndrome caused by a new 17q12 deletion mutation, which will further broaden the genetic mutation spectrum of this condition.”
“We report a novel case of diabetes mellitus type MODY5 as a feature of 17q12 deletion syndrome caused by a new 17q12 deletion mutation, which will further broaden the genetic mutation spectrum of this condition.”found in 1 stories · we are 97% sure · updated 2026-11-14 · read it
Someone reported something new: We report the case of a 60-year-old Japanese woman with genetically confirmed maturity-onset diabetes of the y…
A source describes a new or expanded observation: “We report the case of a 60-year-old Japanese woman with genetically confirmed maturity-onset diabetes of the young type 5 [MODY5; HNF1B (hepatocyte nuclear factor 1B)-MODY] who developed amyotrophic lateral sclerosis (ALS), a progressive neurodegenerative disorder.”
“We report the case of a 60-year-old Japanese woman with genetically confirmed maturity-onset diabetes of the young type 5 [MODY5; HNF1B (hepatocyte nuclear factor 1B)-MODY] who developed amyotrophic lateral sclerosis (ALS), a progressive neurodegenerative…”found in 1 stories · we are 97% sure · updated 2026-11-14 · read it
This entry is version 14. The analytical engine only appends the clearly-labelled “Latest evidence” section; the text above is curated and is not rewritten by the machine. Confidence 85% · last updated 2026-11-14 16:44