ORPHA:34149
Autosomal dominant tubulointerstitial kidney disease
Also known as: ADTKD · Familial juvenile hyperuricemic nephropathy · MCKD · Medullary cystic kidney disease
Publications
1,116
Trials
1
Interventional, condition-specific
Researchers
1,245
Distinct authors in sample
Gene link
APOA4, UMOD
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic renal tubular disease characterized by tubular damage and interstitial fibrosis in absence of glomerular lesions and clinically manifesting with chronic kidney disease (CKD) and slow progression to end-stage kidney disease (ESKD).
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0008264
- MeSH:C536137
- UMLS:C4511620
Additional Mondo synonyms (3)
autosomal dominant interstitial kidney disease · autosomal dominant medullary cystic kidney disease · autosomal dominant medullary cystic kidney disease with or without hyperuricemia
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.
- Gene identifiedPresent
Definitive — APOA4, UMOD
- LiteraturePresent
1,116 matched papers (791 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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 (APOA4, UMOD).
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?
1,116
1,116 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.
1,116 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).
791 in the last 10 years · low confidence
Phrase hits: 1,116 · MeSH hits: 0
Who's working on it?
1,245
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.
- 01Bleyer AJ34 papers · 2026
Department of Paediatrics and Inherited Metabolic Disorders, Research Unit of Rare Diseases, First Faculty of Medicine, Charles University, Prague, Czechia.
Papers in Europe PMC - 02Kmoch S32 papers · 2026
Department of Paediatrics and Inherited Metabolic Disorders, Research Unit of Rare Diseases, First Faculty of Medicine, Charles University, Prague, Czechia.
Papers in Europe PMC - 03Kidd K20 papers · 2026
Department of Paediatrics and Inherited Metabolic Disorders, Research Unit of Rare Diseases, First Faculty of Medicine, Charles University, Prague, Czechia.
Papers in Europe PMC - 04Kidd KO13 papers · 2026
Research Unit of Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.
Papers in Europe PMC - 05Sayer JA13 papers · 2026
Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne NE1 3BZ, United Kingdom.
Papers in Europe PMC - 06Živná M13 papers · 2026
Department of Paediatrics and Inherited Metabolic Disorders, Research Unit of Rare Diseases, First Faculty of Medicine, Charles University, Prague, Czechia.
Papers in Europe PMC - 07Olinger E11 papers · 2026
Institute of Physiology, University of Zurich, CH-8057 Zurich, Switzerland.
Papers in Europe PMC - 08Mori T10 papers · 2026
Department of Nephrology, Tokyo Medical and Dental University, Japan.
Papers in Europe PMC - 09Rampoldi L10 papers · 2026
Molecular Genetics of Renal Disorders, Division of Genetics and Cell Biology, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Ospedale San Raffaele, Milan, 20132 Italy.
Papers in Europe PMC - 10Martin L9 papers · 2026
Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA.
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
- NCT06065852·RECRUITING·National Registry of Rare Kidney Diseases
Conditions: Adenine Phosphoribosyltransferase Deficiency · AH Amyloidosis · AHL Amyloidosis · AL Amyloidosis·Matched via name phrase
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 2026-07-26This 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.
"Autosomal dominant tubulointerstitial kidney disease" OR "ADTKD" OR "Familial juvenile hyperuricemic nephropathy" OR "Medullary cystic kidney disease" OR "autosomal dominant interstitial kidney disease" OR "autosomal dominant medullary cystic kidney disease" OR "autosomal dominant medullary cystic kidney disease with or without hyperuricemia"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal dominant tubulointerstitial kidney disease" OR "ADTKD" OR "Familial juvenile hyperuricemic nephropathy" OR "Medullary cystic kidney disease" OR "autosomal dominant interstitial kidney disease" OR "autosomal dominant medullary cystic kidney disease" OR "autosomal dominant medullary cystic kidney disease with or without hyperuricemia" OR "APOA4" OR "UMOD"
Recall-expansion terms: APOA4, UMOD
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, recall-expansion; with hits: phrase, recall-expansion
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: MCKD
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 (1116) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-26T23:39:30.144Z