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
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
4,425
Trials
0
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
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
Strong — UMOD
- LiteraturePresent
4,425 matched papers (2,694 in last 10 years) Source
- Phenotype characterisedPresent
33 HPO annotations (e.g. Renal insufficiency; Vesicoureteral reflux; IgA deposition in the glomerulus) 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 (UMOD).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
33
Associated phenotypes · MONDO:0008073
- Renal insufficiency
- Vesicoureteral reflux
- IgA deposition in the glomerulus
- Reduced renal corticomedullary differentiation
- Renal interstitial fibrosis
Showing 5 of 33 — 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.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
4,425
4,425 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=3967) is 59.
4,425 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).
2,694 in the last 10 years · low confidence
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?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 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?
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 UMOD-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.
("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 (MESH:"Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria") OR ("UMOD" OR "UMOD syndrome" OR "UMOD-related")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"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh; with hits: phrase
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
- Publication count (4425) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity
Ingested 2026-07-27T03:27:02.202Z