ORPHA:93591
Infantile nephronophthisis
Also known as: Autosomal recessive infantile NPHP · Autosomal recessive infantile nephronophthisis
Publications
1,511
Trials
0
Interventional, condition-specific
Researchers
1,290
Distinct authors in sample
Gene link
INVS
Definitive
Readiness
3/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0011190
- MeSH:C566582
- OMIM:602088
- UMLS:C1865872
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.”
3/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Definitive — INVS
- LiteraturePresent
1,511 matched papers (726 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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)
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?
1,511
1,511 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.
1,511 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).
726 in the last 10 years · low confidence
Phrase hits: 1,511 · MeSH hits: 1
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.
- 01Wang 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 - 02Li 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 - 03Hildebrandt F6 papers · 2020
Division of Nephrology, Boston Children's Hospital, Boston, MA, USA.
Papers in Europe PMC - 04Wang X6 papers · 2026
College of Grassland Science, Xinjiang Agricultural University, Ürümqi, China.
Papers in Europe PMC - 05Chen C5 papers · 2025
College of Agriculture, Hebei Agricultural University, Baoding 071001, China.
Papers in Europe PMC - 06Wang C5 papers · 2026
Organ Transplant Center, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, China.
Papers in Europe PMC - 07Wang Y5 papers · 2022
Department of Gerontology, Zhujiang Hospital, Southern Medical University, Guangzhou, China.
Papers in Europe PMC - 08Zhang Y5 papers · 2025
College of Agriculture, Hebei Agricultural University, Baoding 071001, China.
Papers in Europe PMC - 09Chen L4 papers · 2025
Clinical Veterinary Laboratory, College of Animal Science, Guizhou University, Guizhou, China.
Papers in Europe PMC - 10Chen 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 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.
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
- NCT06648044·RECRUITING·Research of Therapeutic Targets in the Frame of Nephronophthisis and Renal Associated Ciliopathies
Conditions: Nephronophthisis · NPH1 · Autosomal · Recessive·Matched via name phrase
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 2026-07-26This 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"
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" OR "INVS"
Recall-expansion terms: INVS
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, recall-expansion; 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 (1511) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity
Ingested 2026-07-27T04:26:13.114Z