RARE DISEASERESEARCH ATLAS

ORPHA:88659

Autosomal dominant progressive nephropathy with hypertension

low confidenceDisorder

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

659

Trials

0

Interventional, condition-specific

Researchers

1,200

Distinct authors in sample

Gene link

Readiness

1/6

Stages with a signal

Clinical definition (Orphanet)

A rare, genetic hypertension characterized by an adult onset of increased blood pressure associated with nephropathy progressing to end-stage renal disease. Renal biopsy may show interstitial fibrosis, glomerulosclerosis and mild tubular atrophy. Increased serum creatinine and proteinuria have also been reported.

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)

nephropathy-hypertension

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.”

1/6 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

    659 matched papers (415 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  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)

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?

659

659 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.

659 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).

415 in the last 10 years · low confidence

Phrase hits: 659 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,200

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.

  1. 01
    Li J6 papers · 2025

    Organ Transplant Center, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China.

    Papers in Europe PMC
  2. 02
    Li X5 papers · 2026

    Science and Technology Industry Development Center, Chongqing Medical and Pharmaceutical College, Chongqing 401331, P.R. China.

    Papers in Europe PMC
  3. 03
    Li Z5 papers · 2026

    Department of Radiology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, 1095 Jiefang Avenue, Wuhan, 430030, Hubei, China. zhenli@hust.edu.cn.

    Papers in Europe PMC
  4. 04
    Wu J5 papers · 2026

    Department of Hematology, the First Affiliated Hospital of Nanjing Medical University, Nanjing, China.

    Papers in Europe PMC
  5. 05
    Chen J4 papers · 2024

    Kidney Disease Center, First Affiliated Hospital, Zhejiang University School of Medicine.

    Papers in Europe PMC
  6. 06
    Li T4 papers · 2026

    Henan University of Traditional Chinese Medicine, Zhengzhou, China.

    Papers in Europe PMC
  7. 07
    Liu L4 papers · 2025

    School of Traditional Chinese Medicine, Yunnan University of Chinese Medicine, Kunming, China.

    Papers in Europe PMC
  8. 08
    Wang J4 papers · 2025

    Kidney Disease Center, First Affiliated Hospital, Zhejiang University School of Medicine.

    Papers in Europe PMC
  9. 09
    Wang X4 papers · 2025

    State Key Laboratory of Kidney Diseases, Beijing Key Laboratory of Medical Devices and Integrated Traditional Chinese and Western Drug Development for Severe Kidney Diseases, Beijing Key Laboratory of Digital Intelligent TCM for the Preventionand Treatment of Pan-vascular Diseases, Key Disciplines of National Administration of Traditional Chinese Medicine(zyyzdxk-2023310), Department of Nephrology, First Medical Center of Chinese PLA General Hospital, National Clinical Research Center for Kidney Diseases, Beijing, China.

    Papers in Europe PMC
  10. 10
    Zhang C4 papers · 2024

    Department of Nephrology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.

    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 27 July 2026

No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.

low confidence · 36.5th 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.

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 2026-07-26

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.

"Autosomal dominant progressive nephropathy with hypertension" OR "nephropathy-hypertension"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Renal Failure, Progressive, with Hypertension

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

"Autosomal dominant progressive nephropathy with hypertension" OR "nephropathy-hypertension" OR "Renal Failure, Progressive, with Hypertension"

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

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

Ingested 2026-07-27T03:24:53.510Z