ORPHA:88950
UMOD-related autosomal dominant tubulointerstitial kidney disease
Also known as: ADTKD-UMOD · Autosomal dominant tubulointerstitial kidney disease due to UMOD mutation · Familial juvenile hyperuricemic nephropathy type 1 · MCKD2 · Medullary cystic kidney disease type 2 · UAKD · UMOD kidney disease · UMOD-related ADTKD · Uromodulin-associated kidney disease
Publications
448
84.9th percentile
Trials
1
Interventional, condition-specific
Researchers
1,306
Distinct authors in sample
Gene link
UMOD
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A form of tubulointerstitial kidney disease (ADTKD) due to UMOD mutations that is clinically characterized by bland urinalysis (absence of blood or protein in the urine), chronic kidney disease (CKD) leading to end-stage kidney disease (ESKD) between 20 and 80 years, and gout occurring in 50% of affected individuals.
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:0008073
- MeSH:C563693
- OMIM:162000
- OMIM:603860
- OMIM:609886
- UMLS:C4551496
- NCIT:C123172
Additional Mondo synonyms (21)
Autosomal Dominant Tubulo-Interstitial Kidney Disease · FJHN type 1 · HNFJ1 · UMOD familial juvenile hyperuricemic nephropathy · UMOD-associated FJHN · UMOD-associated familial juvenile hyperuricemic nephropathy · UMOD-related kidney disease · autosomal dominant medullary cystic kidney disease type 2 · autosomal dominant medullary cystic kidney disease with hyperuricemia · autosomal dominant tubulointerstitial kidney disease - UMOD · autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD · familial juvenile hyperuricemic nephropathy caused by mutation in UMOD · glomerulocystic kidney disease with hyperuricemia and isosthenuria · hyperuricemic nephropathy, familial juvenile, 1 · hyperuricemic nephropathy, familial juvenile, type 1 · medullary cystic kidney disease 2 · medullary cystic kidney disease type 2 · medullary cystic kidney disease type II · tubulointerstitial kidney disease, autosomal dominant, 1 · uromodulin storage disease · uromodulin-associated kidney disease
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
Strong — UMOD
- LiteraturePresent
448 matched papers (301 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 (UMOD).
GenCC classification: Strong.
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?
448
448 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
448 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).
301 in the last 10 years · medium confidence · 84.9th percentile (publications denominator)
Phrase hits: 448 · MeSH hits: 0
Who's working on it?
1,306
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 AJ32 papers · 2026
Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA.
Papers in Europe PMC - 02Kmoch S30 papers · 2026
Research Unit of Rare Diseases, Department of Pediatric and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic; Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA.
Papers in Europe PMC - 03Kidd K24 papers · 2026
Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA.
Papers in Europe PMC - 04
- 05Živná M14 papers · 2026
Research Unit of Rare Diseases, Department of Pediatric and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.
Papers in Europe PMC - 06Olinger E13 papers · 2026
Institute of Physiology, University of Zurich, Zurich CH-8057, Switzerland.
Papers in Europe PMC - 07
- 08Sayer JA10 papers · 2026
Renal Services, The Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK; NIHR Newcastle Biomedical Research Centre, Newcastle University, Newcastle upon Tyne, UK.
Papers in Europe PMC - 09
- 10Devuyst O9 papers · 2026
Swiss National Centre of Competence in Research (NCCR) Kidney Control of Homeostasis.
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).
medium 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.
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.
"UMOD-related autosomal dominant tubulointerstitial kidney disease" OR "ADTKD-UMOD" OR "Autosomal dominant tubulointerstitial kidney disease due to UMOD mutation" OR "Familial juvenile hyperuricemic nephropathy type 1" OR "MCKD2" OR "Medullary cystic kidney disease type 2" OR "UMOD kidney disease" OR "UMOD-related ADTKD" OR "Uromodulin-associated kidney disease" OR "Autosomal Dominant Tubulo-Interstitial Kidney Disease" OR "FJHN type 1" OR "HNFJ1" OR "UMOD familial juvenile hyperuricemic nephropathy" OR "UMOD-associated FJHN" OR "UMOD-associated familial juvenile hyperuricemic nephropathy" OR "UMOD-related kidney disease" OR "autosomal dominant medullary cystic kidney disease type 2" OR "autosomal dominant medullary cystic kidney disease with hyperuricemia" OR "autosomal dominant tubulointerstitial kidney disease - UMOD" OR "autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD" OR "familial juvenile hyperuricemic nephropathy caused by mutation in UMOD" OR "glomerulocystic kidney disease with hyperuricemia and isosthenuria" OR "hyperuricemic nephropathy, familial juvenile, 1" OR "hyperuricemic nephropathy, familial juvenile, type 1" OR "medullary cystic kidney disease 2" OR "medullary cystic kidney disease type II" OR "tubulointerstitial kidney disease, autosomal dominant, 1" OR "uromodulin storage disease"
MeSH descriptor terms unioned into the query: Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"UMOD-related autosomal dominant tubulointerstitial kidney disease" OR "ADTKD-UMOD" OR "Autosomal dominant tubulointerstitial kidney disease due to UMOD mutation" OR "Familial juvenile hyperuricemic nephropathy type 1" OR "MCKD2" OR "Medullary cystic kidney disease type 2" OR "UMOD kidney disease" OR "UMOD-related ADTKD" OR "Uromodulin-associated kidney disease" OR "Autosomal Dominant Tubulo-Interstitial Kidney Disease" OR "FJHN type 1" OR "HNFJ1" OR "UMOD familial juvenile hyperuricemic nephropathy" OR "UMOD-associated FJHN" OR "UMOD-associated familial juvenile hyperuricemic nephropathy" OR "UMOD-related kidney disease" OR "autosomal dominant medullary cystic kidney disease type 2" OR "autosomal dominant medullary cystic kidney disease with hyperuricemia" OR "autosomal dominant tubulointerstitial kidney disease - UMOD" OR "autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD" OR "familial juvenile hyperuricemic nephropathy caused by mutation in UMOD" OR "glomerulocystic kidney disease with hyperuricemia and isosthenuria" OR "hyperuricemic nephropathy, familial juvenile, 1" OR "hyperuricemic nephropathy, familial juvenile, type 1" OR "medullary cystic kidney disease 2" OR "medullary cystic kidney disease type II" OR "tubulointerstitial kidney disease, autosomal dominant, 1" OR "uromodulin storage disease" OR "UMOD"
Recall-expansion terms: 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 · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, recall-expansion
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: UAKD
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
Ingested 2026-07-27T03:27:02.202Z