ORPHA:88949
MUC1-related autosomal dominant tubulointerstitial kidney disease
Also known as: ADTKD-MUC1 · MCKD1 · MUC1-related medullary cystic kidney disease · MUCI-related ADTKD · Medullary cystic kidney disease type 1
Publications
24,944
Trials
0
Interventional, condition-specific
Researchers
1,431
Distinct authors in sample
Gene link
MUC1
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare tubulointerstitial kidney (ADTKD) disease due to MUC1 mutations characterized clinically by a bland urinalysis (absence of blood or protein in the urine), and chronic kidney disease leading to end-stage kidney disease (ESKD) between 20 and 80 years.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0020726
- OMIM:174000
- UMLS:C1868139
- NCIT:C123171
Additional Mondo synonyms (6)
MUC1-related autosomal dominant medullary cystic kidney disease · autosomal dominant medullary cystic kidney disease without hyperuricemia · autosomal dominant tubulointerstitial kidney disease due to mutations in MUC1 · medullary cystic kidney disease 1 · medullary cystic kidney disease type 1 · medullary cystic kidney disease, autosomal dominant
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
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — MUC1
- LiteraturePresent
24,944 matched papers (15,864 in last 10 years) Source
- Phenotype characterisedPresent
19 HPO annotations (e.g. Glomerular sclerosis; Tubular basement membrane disintegration; Impaired renal uric acid clearance) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
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 (MUC1).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
19
Associated phenotypes · MONDO:0020726
- Glomerular sclerosis
- Tubular basement membrane disintegration
- Impaired renal uric acid clearance
- Renal cortical atrophy
- Hypotension
Showing 5 of 19 — open Monarch for the full list.
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
Monarch fetch 2026-07-29
Therapies
Designations, candidates, and chemicals
FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.
Orphan designation (FDA · EMA)
No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.
Open Targets candidates
No drugs or clinical candidates returned for this Mondo ID on Open Targets.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
24,944
24,944 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
24,944 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).
15,864 in the last 10 years · low confidence
Phrase hits: 222 · MeSH hits: 0
Who's working on it?
1,431
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Bleyer AJ38 papers · 2026
Section of Nephrology, Wake Forest University School of Medicine, Winston-Salem, NC, USA.
Papers in Europe PMC - 02Kmoch S34 papers · 2026
Section of Nephrology, Wake Forest University School of Medicine, Winston-Salem, NC, USA.
Papers in Europe PMC - 03Kidd K23 papers · 2026
Section of Nephrology, Wake Forest University School of Medicine, Winston-Salem, NC, USA.
Papers in Europe PMC - 04Živná M17 papers · 2026
Research Unit for Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic.
Papers in Europe PMC - 05Hildebrandt F15 papers · 2022
University Children's Hospital, Freiburg University, Freiburg, Germany.
Papers in Europe PMC - 06Kidd KO11 papers · 2026
Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, NC, USA.
Papers in Europe PMC - 07Connaughton DM10 papers · 2026
Schulich School of Medicine & Dentistry, University of Western Ontario, London, Ontario, Canada.
Papers in Europe PMC - 08Martin L9 papers · 2026
Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, NC, USA.
Papers in Europe PMC - 09Sayer JA9 papers · 2024
Translational and Clinical Medicine Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK; NHS Foundation Trust, Newcastle upon Tyne Hospitals, Renal Services, Newcastle upon Tyne, UK; National Institute for Health Research Newcastle Biomedical Research Centre, Newcastle University, Newcastle upon Tyne, UK.
Papers in Europe PMC - 10Taylor A9 papers · 2026
Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, NC, USA.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 11 September 2026 · last trial check 11 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
low confidence · 38.6th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Other registries (secondary)
Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.
raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30
Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri
No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).
Where to find support
Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.
Orphanet entry for MUC1-related autosomal dominant tubulointerstitial kidney disease — check Associations / patient organisations on that page.
India — NPRD
Last verified 2026-07-26This 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.
("MUC1-related autosomal dominant tubulointerstitial kidney disease" OR "ADTKD-MUC1" OR "MCKD1" OR "MUC1-related medullary cystic kidney disease" OR "MUCI-related ADTKD" OR "Medullary cystic kidney disease type 1" OR "MUC1-related autosomal dominant medullary cystic kidney disease" OR "autosomal dominant medullary cystic kidney disease without hyperuricemia" OR "autosomal dominant tubulointerstitial kidney disease due to mutations in MUC1" OR "medullary cystic kidney disease 1" OR "medullary cystic kidney disease, autosomal dominant") OR ("MUC1" OR "MUC1 syndrome" OR "MUC1-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"MUC1-related autosomal dominant tubulointerstitial kidney disease" OR "ADTKD-MUC1" OR "MCKD1" OR "MUC1-related medullary cystic kidney disease" OR "MUCI-related ADTKD" OR "Medullary cystic kidney disease type 1" OR "MUC1-related autosomal dominant medullary cystic kidney disease" OR "autosomal dominant medullary cystic kidney disease without hyperuricemia" OR "autosomal dominant tubulointerstitial kidney disease due to mutations in MUC1" OR "medullary cystic kidney disease 1" OR "medullary cystic kidney disease, autosomal dominant"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Publication count (24944) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity
Ingested 2026-07-27T03:26:41.363Z