RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:93111

HNF1B-related autosomal dominant tubulointerstitial kidney disease

low confidenceSubtype of disorder

Also known as: ADTKD-HNF1B · HNF1B-MODY · HNF1B-related nephropathy · MODY5 · Maturity-onset diabetes of the young type 5 · RCAD syndrome · Renal cysts and diabetes syndrome · Renal dysfunction-early-onset diabetes syndrome

Publications

1,200

Trials

1

Interventional, condition-specific

Researchers

1,223

Distinct authors in sample

Gene link

HNF1B

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A form of tubulointerstitial kidney disease (ADTKD) due to variants in or whole gene deletions of HNF1B, which is characterized by chronic tubulo-interstitial nephritis, that manifests with nonsignificant urinalysis and slowly renal failure. It can be associated with cystic kidney , early onset diabetes and extrarenal manifestations.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (9)

CAKUT with diabetes · HNF1B-related renal cysts and diabetes syndrome · RCAD · congenital anomalies of the kidney and urinary tract with diabetes · hepatocyte nuclear Factor 1-beta-associated monogenic diabetes · maturity onset diabetes of the Young, type 5 · renal cysts and diabetes syndrome · renal cysts-maturity-onset diabetes of the young syndrome · renal dysfunction-early-onset diabetes syndrome

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

3/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — HNF1B

  2. LiteraturePresent

    1,200 matched papers (789 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    1 matched on ClinicalTrials.gov

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Yes — we know a specific gene responsible (HNF1B).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

Not enriched in this build — Monarch phenotype joins were not run for this record.

Animal models (Monarch / Alliance)

Not enriched in this build.

Literature

Is anyone studying this?

1,200

1,200 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

1,200 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

789 in the last 10 years · low confidence

Phrase hits: 1,200 · MeSH hits: 5

Open Europe PMC search

Who's working on it?

1,223

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Wang X7 papers · 2026

    Department of Endocrinology and Metabolism, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127, China.

    Papers in Europe PMC
  2. 02
    Horikawa Y5 papers · 2026

    Department of Diabetes, Endocrinology and Metabolism, Graduate School of Medicine, Gifu University, 1-1 Yanagido, Gifu, Japan.

    Papers in Europe PMC
  3. 03
    Liu J5 papers · 2025

    1st Department of Internal Medicine, University of Toyama, Toyama, Japan.

    Papers in Europe PMC
  4. 04
    Wang Y5 papers · 2026

    Department of Endocrinology and Metabolism, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127, China.

    Papers in Europe PMC
  5. 05
    Johansson BB4 papers · 2026

    Mohn Research Center for Diabetes Precision Medicine, Department of Clinical Science, University of Bergen, Bergen, Norway. Electronic address: bente.johansson@uib.no.

    Papers in Europe PMC
  6. 06
    Molnes J4 papers · 2026

    Mohn Research Center for Diabetes Precision Medicine, Department of Clinical Science, University of Bergen, Bergen, Norway; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway. Electronic address: janne.molnes@uib.no.

    Papers in Europe PMC
  7. 07
    Njølstad PR4 papers · 2026

    Mohn Research Center for Diabetes Precision Medicine, Department of Clinical Science, University of Bergen, Bergen, Norway; Children and Youth Clinic, Haukeland University Hospital, Bergen, Norway.

    Papers in Europe PMC
  8. 08
    Seeman T4 papers · 2021

    Department of Pediatrics, 2nd Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.

    Papers in Europe PMC
  9. 09
    Yang H4 papers · 2025

    Department of Nephrology, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science & Technology, Wuhan, 430014, China.

    Papers in Europe PMC
  10. 10
    Zhang H4 papers · 2026

    Department of Medicine, University of Maryland School of Medicine, Baltimore, Maryland.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting.

Data as of 27 July 2026

1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).

low confidence · 76.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 interventional trials matched after quoted-phrase search and title/condition post-filter.

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Observational and natural-history studies

1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

Where to find support

We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

"HNF1B-related autosomal dominant tubulointerstitial kidney disease" OR "ADTKD-HNF1B" OR "HNF1B-MODY" OR "HNF1B-related nephropathy" OR "MODY5" OR "Maturity-onset diabetes of the young type 5" OR "Maturity-onset diabetes of young type 5" OR "RCAD syndrome" OR "Renal cysts and diabetes syndrome" OR "Renal dysfunction-early-onset diabetes syndrome" OR "CAKUT with diabetes" OR "HNF1B-related renal cysts and diabetes syndrome" OR "congenital anomalies of the kidney and urinary tract with diabetes" OR "congenital anomalies of kidney and urinary tract with diabetes" OR "hepatocyte nuclear Factor 1-beta-associated monogenic diabetes" OR "maturity onset diabetes of the Young, type 5" OR "maturity onset diabetes of Young, type 5" OR "renal cysts-maturity-onset diabetes of the young syndrome" OR "renal cysts-maturity-onset diabetes of young syndrome"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Renal cysts and diabetes syndrome

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"HNF1B-related autosomal dominant tubulointerstitial kidney disease" OR "ADTKD-HNF1B" OR "HNF1B-MODY" OR "HNF1B-related nephropathy" OR "MODY5" OR "Maturity-onset diabetes of the young type 5" OR "Maturity-onset diabetes of young type 5" OR "RCAD syndrome" OR "Renal cysts and diabetes syndrome" OR "Renal dysfunction-early-onset diabetes syndrome" OR "CAKUT with diabetes" OR "HNF1B-related renal cysts and diabetes syndrome" OR "congenital anomalies of the kidney and urinary tract with diabetes" OR "congenital anomalies of kidney and urinary tract with diabetes" OR "hepatocyte nuclear Factor 1-beta-associated monogenic diabetes" OR "maturity onset diabetes of the Young, type 5" OR "maturity onset diabetes of Young, type 5" OR "renal cysts-maturity-onset diabetes of the young syndrome" OR "renal cysts-maturity-onset diabetes of young syndrome" OR "HNF1B"

Recall-expansion terms: HNF1B

Interventional trials matched via: recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 1 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh, recall-expansion

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: RCAD

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (1200) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T04:06:53.572Z