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ORPHA:94088

Hereditary renal hypouricemia

high confidenceDisorder

Also known as: Familial renal hypouricemia

Publications

125

52.3th percentile

Trials

0

Interventional, condition-specific

Researchers

750

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A genetic renal tubular disorder characterized by urinary urate wasting that typically leads to asymptomatic hypouricemia and predisposes to urolithiasis and exercise-induced acute renal failure (EIARF).

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.

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.”

2/6 stages with a signal

Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    125 matched papers (70 in last 10 years) Source

  3. Phenotype characterisedPresent

    33 HPO annotations (e.g. Hypouricemia; Oliguria; Elevated fractional excretion of urate) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

33

Associated phenotypes · MONDO:0009071

  • Hypouricemia
  • Oliguria
  • Elevated fractional excretion of urate
  • Acute kidney injury

Showing 4 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.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

2 associated chemicals · 7 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Streptozocin · marker/mechanism
  • Valproic Acid · marker/mechanism

Pathways: Transmembrane transport of small molecules; Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds; SLC-mediated transmembrane transport; Class II GLUTs; Facilitative Na+-independent glucose transporters; Organic cation/anion/zwitterion transport; Organic anion transport

MyDisease.info · MONDO:0009071

Literature

Is anyone studying this?

125

125 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=3967) is 59.

125 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).

70 in the last 10 years · high confidence · 52.3th percentile (publications denominator)

Phrase hits: 113 · MeSH hits: 16

Open Europe PMC search

Who's working on it?

750

Distinct author names in 125 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.

  1. 01
    Sperling O10 papers · 2006

    Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel-Aviv University, Tel Aviv, Israel. odeds@post.tau.ac.il <odeds@post.tau.ac.il>

    Papers in Europe PMC
  2. 02
    de Vries A7 papers · 1980
    Papers in Europe PMC
  3. 03
    Ichida K6 papers · 2023

    Department of Pathophysiology, Tokyo University of Pharmacy and Life Science, Hachioji 192-0392, Japan.

    Papers in Europe PMC
  4. 04
    Hosoyamada M5 papers · 2022

    Department of Pharmacology and Toxicology, Kyorin University School of Medicine, Tokyo, Japan. hosoyamd@kyorin-u.ac.jp

    Papers in Europe PMC
  5. 05
    Weinberger A5 papers · 1978
    Papers in Europe PMC
  6. 06
    Benjamin D4 papers · 1978
    Papers in Europe PMC
  7. 07
    Hosoya T4 papers · 2022

    Department of Human Physiology and Pathology, Faculty of Pharma-Science, Teikyo University, Tokyo, Japan.

    Papers in Europe PMC
  8. 08
    Stiburkova B4 papers · 2020

    Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, General University Hospital in Prague, Prague, Czech Republic.

    Papers in Europe PMC
  9. 09
    Dinour D3 papers · 2012

    Nephrology and Hypertension Institute, Sheba Medical Center, Tel-Hashomer, 52621, Israel. dganit.dinour@sheba.health.gov.il

    Papers in Europe PMC
  10. 10
    Endou H3 papers · 2005
    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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.

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.

high 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.

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

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 Hereditary renal hypouricemia — check Associations / patient organisations on that page.

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.

"Hereditary renal hypouricemia" OR "Familial renal hypouricemia"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Renal hypouricemia

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

"Hereditary renal hypouricemia" OR "Familial renal hypouricemia" OR "Renal hypouricemia"

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

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

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

Ingested 2026-07-27T04:38:16.399Z