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ORPHA:839

Congenital nephrotic syndrome, Finnish type

low confidenceDisorder

Also known as: Finnish congenital nephrosis

Publications

2,446

Trials

0

Interventional, condition-specific

Researchers

349

Distinct authors in sample

Gene link

NPHS1

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A rare nephrotic syndrome characterized by massive protein loss and marked edema manifesting in utero or during the first 3 months of life.

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.

Additional Mondo synonyms (3)

congenital nephrotic syndrome - Finnish type · congenital nephrotic syndrome, Finnish type · nephrotic syndrome - NPHS1 associated

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.”

5/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — NPHS1

  2. LiteraturePresent

    2,446 matched papers (1,688 in last 10 years) Source

  3. Phenotype characterisedPresent

    27 HPO annotations (e.g. Abnormal renal tubule morphology; Nephrotic syndrome; Delayed eruption of permanent teeth) Source

  4. Animal modelPresent

    2 genotype models (Danio rerio) Source

  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; 136 for broader category nephrotic syndrome

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 (NPHS1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

27

Associated phenotypes · MONDO:0009732

  • Abnormal renal tubule morphology
  • Nephrotic syndrome
  • Delayed eruption of permanent teeth
  • Elevated amniotic fluid alpha-fetoprotein concentration
  • Proteinuria

Showing 5 of 27 — open Monarch for the full list.

Animal models (Monarch / Alliance)

2

Model associations linked to this Mondo ID

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?

2,446

2,446 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.

2,446 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).

1,688 in the last 10 years · low confidence

Phrase hits: 56 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

349

Distinct author names in 56 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
    Campbell KN2 papers · 2018

    Division of Nephrology, Icahn School of Medicine at Mount Sinai, New York, New York, USA.

    Papers in Europe PMC
  2. 02
    Hinttala R2 papers · 2022

    Research Unit of Clinical Medicine and Medical Research Center, Oulu University Hospital and University of Oulu, 90014 Oulu, Finland.

    Papers in Europe PMC
  3. 03
    Kuure S2 papers · 2022

    Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, 00014 Helsinki, Finland.

    Papers in Europe PMC
  4. 04
    Mehta L2 papers · 2016

    Division of Medical Genetics, Icahn School of Medicine at Mount Sinai & Mount Sinai Medical Center, New York, NY, USA.

    Papers in Europe PMC
  5. 05
    Schneidman-Duhovny D2 papers · 2016

    Department of Bioengineering and Therapeutic Sciences, University of California San Francisco, San Francisco, CA, USA.

    Papers in Europe PMC
  6. 06
    Sipilä P2 papers · 2022

    Research Centre for Integrative Physiology and Pharmacology, Institute of Biomedicine, University of Turku, 20014 Turku, Finland.

    Papers in Europe PMC
  7. 07
    Tikhomirov E2 papers · 2009

    Scientific Centre of Children Health, Genetic Group, Lomonosovsky Prospect, 2/62, 119991 Moscow, Russian Federation. tikhomirov@nczd.ru

    Papers in Europe PMC
  8. 08
    Tsygin A2 papers · 2009
    Papers in Europe PMC
  9. 09
    Uusimaa J2 papers · 2022

    Children and Adolescents, Oulu University Hospital, 90029 Oulu, Finland.

    Papers in Europe PMC
  10. 10
    Voznesenskaya T2 papers · 2009
    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. 136 trials are registered for nephrotic syndrome, 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.

136 interventional trials matched nephrotic syndrome, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: nephrotic syndrome

136

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

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.

None of the matched observational studies is currently listed as 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 2026-07-29

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 Congenital nephrotic syndrome, Finnish type — 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.

("Congenital nephrotic syndrome, Finnish type" OR "Finnish congenital nephrosis" OR "congenital nephrotic syndrome - Finnish type" OR "nephrotic syndrome - NPHS1 associated") OR ("NPHS1" OR "NPHS1 syndrome" OR "NPHS1-related")

Run this search on Europe PMC

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

"Congenital nephrotic syndrome, Finnish type" OR "Finnish congenital nephrosis" OR "congenital nephrotic syndrome - Finnish type" OR "nephrotic syndrome - NPHS1 associated"

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

Parent-category trials query:

"nephrotic syndrome"

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 (2446) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T15:36:43.503Z