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ORPHA:93591

Infantile nephronophthisis

low confidenceSubtype of disorder

Also known as: Autosomal recessive infantile NPHP · Autosomal recessive infantile nephronophthisis

Publications

5,832

Trials

0

Interventional, condition-specific

Researchers

1,290

Distinct authors in sample

Gene link

INVS

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A rare clinical variant of nephronophthisis characterized by reduced renal concentrating ability, chronic tubulointerstitial nephritis, cystic renal disease, and progression to end-stage renal disease (ESRD) before 3 years of age.

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 (7)

INVS nephronophthisis (disease) · NPH2 · NPHP2 · nephronophthisis (disease) caused by mutation in INVS · nephronophthisis 2 · nephronophthisis 2, infantile · nephronophthisis type 2

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 — INVS

  2. LiteraturePresent

    5,832 matched papers (2,919 in last 10 years) Source

  3. Phenotype characterisedPresent

    17 HPO annotations (e.g. Renal cortical microcysts; Stage 5 chronic kidney disease; Chronic tubulointerstitial nephritis) Source

  4. Animal modelPresent

    1 genotype model (Mus musculus) 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; 4 for broader category nephronophthisis

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 (INVS).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

17

Associated phenotypes · MONDO:0011190

  • Renal cortical microcysts
  • Stage 5 chronic kidney disease
  • Chronic tubulointerstitial nephritis
  • Hyperechogenic kidneys
  • Hypertension

Showing 5 of 17 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

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?

5,832

5,832 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

5,832 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).

2,919 in the last 10 years · low confidence

Phrase hits: 1,511 · MeSH hits: 1

Open Europe PMC search

Who's working on it?

1,290

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
    Wang J9 papers · 2025

    Department of Neurology, The First Affiliated Hospital of Xi'an Jiaotong University, 277 West Yanta Rd, 710061, Xi'an, China.

    Papers in Europe PMC
  2. 02
    Li Y7 papers · 2026

    Department of Neurology, The First Affiliated Hospital of Xi'an Jiaotong University, 277 West Yanta Rd, 710061, Xi'an, China.

    Papers in Europe PMC
  3. 03
    Hildebrandt F6 papers · 2020

    Division of Nephrology, Boston Children's Hospital, Boston, MA, USA.

    Papers in Europe PMC
  4. 04
    Wang X6 papers · 2026

    College of Grassland Science, Xinjiang Agricultural University, Ürümqi, China.

    Papers in Europe PMC
  5. 05
    Chen C5 papers · 2025

    College of Agriculture, Hebei Agricultural University, Baoding 071001, China.

    Papers in Europe PMC
  6. 06
    Wang C5 papers · 2026

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

    Papers in Europe PMC
  7. 07
    Wang Y5 papers · 2022

    Department of Gerontology, Zhujiang Hospital, Southern Medical University, Guangzhou, China.

    Papers in Europe PMC
  8. 08
    Zhang Y5 papers · 2025

    College of Agriculture, Hebei Agricultural University, Baoding 071001, China.

    Papers in Europe PMC
  9. 09
    Chen L4 papers · 2025

    Clinical Veterinary Laboratory, College of Animal Science, Guizhou University, Guizhou, China.

    Papers in Europe PMC
  10. 10
    Chen X4 papers · 2025

    College of Food Science and Biology, Hebei University of Science and Technology, Shijiazhuang, 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). 4 trials are registered for nephronophthisis, 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.

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

Broader category: nephronophthisis

4

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 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 Infantile nephronophthisis — 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.

("Infantile nephronophthisis" OR "Autosomal recessive infantile NPHP" OR "Autosomal recessive infantile nephronophthisis" OR "INVS nephronophthisis (disease)" OR "NPHP2" OR "nephronophthisis (disease) caused by mutation in INVS" OR "nephronophthisis 2" OR "nephronophthisis 2, infantile" OR "nephronophthisis type 2") OR (MESH:"Nephronophthisis 2") OR ("INVS" OR "INVS syndrome" OR "INVS-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Nephronophthisis 2

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

"Infantile nephronophthisis" OR "Autosomal recessive infantile NPHP" OR "Autosomal recessive infantile nephronophthisis" OR "INVS nephronophthisis (disease)" OR "NPHP2" OR "nephronophthisis (disease) caused by mutation in INVS" OR "nephronophthisis 2" OR "nephronophthisis 2, infantile" OR "nephronophthisis type 2"

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

Parent-category trials query:

"nephronophthisis"

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: NPH2

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 (5832) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T04:26:13.114Z