Kidneys & diabetes: what the collected sources say

_Auto-generated summary of 257 insights in the “Kidneys & diabetes” cluster. Rebuilt on every analysis run; every claim links back to its source._

• New observation reported: 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.”
• New observation reported: 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.”
• New observation reported: 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.”
• New observation reported: 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”
• New observation reported: 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”
• New observation reported: 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.”
• New observation reported: 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.”
• New observation reported: 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.”
• New observation reported: To our knowledge, this is the first reported case of concurrent ALS and HNF1B-MODY… - A source describes a new or expanded observation: “To our knowledge, this is the first reported case of concurrent ALS and HNF1B-MODY.”
• New observation reported: Although initially believed to be associated with the disease [ 30 ], emerging evidence [ 31 ] has led to its … - A source describes a new or expanded observation: “Although initially believed to be associated with the disease [ 30 ], emerging evidence [ 31 ] has led to its reclassification as a gene with 'disputed' association with aHUS by the ClinGen Complement-Mediated Kidney Diseases Working Group [ 32 ].”
• New observation reported: (April 2011). "LIM-class homeobox gene Lim1, a novel oncogene in human renal cell carcinoma" … - A source describes a new or expanded observation: “(April 2011). "LIM-class homeobox gene Lim1, a novel oncogene in human renal cell carcinoma" .”
• New observation reported: Here, we report a simple two-step differentiation protocol to generate kidney tubular organoids from hPSCs wit… - A source describes a new or expanded observation: “Here, we report a simple two-step differentiation protocol to generate kidney tubular organoids from hPSCs with direct purification of KSP (kidney specific protein)-positive cells using anti-KSP antibody.”
• New observation reported: Glucokinase (GCK)-MODY remains managed without pharmacological treatment outside pregnancy, but dorzagliatin, … - A source describes a new or expanded observation: “Glucokinase (GCK)-MODY remains managed without pharmacological treatment outside pregnancy, but dorzagliatin, a novel agent acting as a glucokinase activator, may further expand precision treatment approaches.”
• New observation reported: A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5 Abstract W… - A source describes a new or expanded observation: “A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5 Abstract 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 amyo”

Insight mix

• Phenotype expansion: 206
• Contradicting evidence: 20
• Frequency / statistic: 15
• New publication: 12
• Gene–trait link: 4

Latest evidence in the collected corpus

New observation reported: 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.”

_{corroboration 1 · confidence 97% · updated 2026-11-14 · source}

New observation reported: 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.”

_{corroboration 1 · confidence 97% · updated 2026-11-14 · source}

New observation reported: 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.”

_{corroboration 1 · confidence 97% · updated 2026-11-14 · source}

New observation reported: 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,…”

_{corroboration 1 · confidence 97% · updated 2026-11-14 · source}

New observation reported: 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…”

_{corroboration 1 · confidence 97% · updated 2026-11-14 · source}

New observation reported: 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.”

_{corroboration 1 · confidence 97% · updated 2026-11-14 · source}

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This entry is version 16. The analytical engine only appends the clearly-labelled “Latest evidence” section; the text above is curated and is not rewritten by the machine. Confidence 97% · last updated 2026-11-14 16:44