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ORPHA:363694

Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome

low confidenceDisorder

Also known as: HUPRA syndrome

Publications

2,627

Trials

0

Interventional, condition-specific

Researchers

779

Distinct authors in sample

Gene link

SARS2

Strong

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare, genetic, disease characterized by early-onset renal failure, manifesting with hyperuricemia, hyponatremia, hypomagnesemia, hypochloremic alkalosis, elevated BUN and polyuria, associated with systemic manifestations which include pulmonary hypertension, , global , and ventricular hypertrophy. Additional features include prematurity, elevated serum lactate, diabetes mellitus and, in some, pancytopenia.

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (1)

hyperuricemia, pulmonary hypertension, renal failure, and alkalosis

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.”

4/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Strong — SARS2

  2. LiteraturePresent

    2,627 matched papers (2,485 in last 10 years) Source

  3. Phenotype characterisedPresent

    25 HPO annotations (e.g. Type 2 muscle fiber atrophy; Hypotonia; Chronic kidney disease) 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 trialPartial

    None under the specific name; 663 for broader category pulmonary hypertension

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 (SARS2).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

25

Associated phenotypes · MONDO:0013458

  • Type 2 muscle fiber atrophy
  • Hypotonia
  • Chronic kidney disease
  • Diabetes mellitus
  • Failure to thrive

Showing 5 of 25 — 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?

2,627

2,627 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.

2,627 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).

2,485 in the last 10 years · low confidence

Phrase hits: 118 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

779

Distinct author names in 118 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
    Antonellis A5 papers · 2026

    Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, United States; Cellular and Molecular Biology Program, University of Michigan Medical School, Ann Arbor, MI, United States. Electronic address: antonell@umich.edu.

    Papers in Europe PMC
  2. 02
    He L5 papers · 2018

    Department of Nephrology, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai, China.

    Papers in Europe PMC
  3. 03
    Taylor RW5 papers · 2018

    Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.

    Papers in Europe PMC
  4. 04
    McFarland R4 papers · 2017

    Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.

    Papers in Europe PMC
  5. 05
    Alston CL3 papers · 2017

    Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.

    Papers in Europe PMC
  6. 06
    Boczonadi V3 papers · 2018

    Wellcome Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, U.K.

    Papers in Europe PMC
  7. 07
    Horvath R3 papers · 2018

    Wellcome Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, U.K. rita.horvath@ncl.ac.uk.

    Papers in Europe PMC
  8. 08
    Li L3 papers · 2023

    BGI-Wuhan Clinical Laboratory, BGI-Shenzhen, 430074, Wuhan, China.

    Papers in Europe PMC
  9. 09
    Zhang Y3 papers · 2022

    Department of Clinical Laboratory, Shenzhen Longhua District Central Hospital, Guangdong Medical University Shenzhen 518110, Guangdong, P. R. China.

    Papers in Europe PMC
  10. 10
    Adawi DO2 papers · 2023

    Pediatric Department, Beit-Jala Governmental Hospital, Bethlehem, Palestine.

    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). 663 trials are registered for pulmonary hypertension, the broader category — shown separately because they may or may not enrol this specific subtype.

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.

663 interventional trials matched pulmonary hypertension, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: pulmonary hypertension

663

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

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 60 · after dedupe 60 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 60 · 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).

Uncertain / not reviewed (60)

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 Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome — 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.

("Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome" OR "HUPRA syndrome" OR "hyperuricemia, pulmonary hypertension, renal failure, and alkalosis") OR ("SARS2" OR "SARS2 syndrome" OR "SARS2-related")

Run this search on Europe PMC

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

"Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome" OR "HUPRA syndrome" OR "hyperuricemia, pulmonary hypertension, renal failure, and alkalosis"

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

Parent-category trials query:

"pulmonary hypertension"

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 (2627) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T14:42:26.797Z