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ORPHA:401996

Karyomegalic interstitial nephritis

medium confidenceDisorder

Also known as: KIN · Systemic karyomegaly

Publications

182

67.5th percentile

Trials

0

Interventional, condition-specific

Researchers

1,180

Distinct authors in sample

Gene link

FAN1

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare, genetic renal disease characterized by slowly , chronic, tubulointerstitial nephritis, leading to end-stage renal disease before the age of 50 years, manifesting with mild proteinuria, glucosuria and, occasionally, urinary sediment abnormalities (mainly hematuria). Mild extrarenal manifestations, such as recurrent upper respiratory tract infections and abnormal liver function tests, may be associated. Renal biopsy reveals severe, chronic, interstitial fibrosis and tubular changes, as well as hallmark karyomegalic tubular epithelial cells which line the proximal and distal tubules and have enlarged, hyperchromatic nuclei.

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 (6)

FAN1 interstitial nephritis · KMIN · interstitial nephritis caused by mutation in FAN1 · karyomegalic interstitial nephritis · kin · systemic karyomegaly

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.

  1. Gene identifiedPresent

    Definitive — FAN1

  2. LiteraturePresent

    182 matched papers (106 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 trialPartial

    None under the specific name; 4 for broader category interstitial nephritis

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 (FAN1).

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?

182

182 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

182 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).

106 in the last 10 years · medium confidence · 67.5th percentile (publications denominator)

Phrase hits: 182 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,180

Distinct author names in 182 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
    Hildebrandt F7 papers · 2026

    Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA. Electronic address: friedhelm.hildebrandt@childrens.harvard.edu.

    Papers in Europe PMC
  2. 02
    Liu Y6 papers · 2025

    Department of Genetics, Jiangxi Maternal and Child Health Hospital, 330006, Nanchang, China.

    Papers in Europe PMC
  3. 03
    Smogorzewska A5 papers · 2016

    Laboratory of Genome Maintenance, The Rockefeller University, New York, NY 10065, USA. Electronic address: asmogorzewska@rockefeller.edu.

    Papers in Europe PMC
  4. 04
    Airik R4 papers · 2023

    Department of Medicine, Boston Children's Hospital, Boston, Massachusetts; airikr@pitt.edu Friedhelm.Hildebrandt@childrens.harvard.edu.

    Papers in Europe PMC
  5. 05
    Chung BH4 papers · 2026

    Convergent Research Consortium for Immunologic Disease; Transplant Research Center; Division of Nephrology, Department of Internal Medicine. Electronic address: chungbh@catholic.ac.kr.

    Papers in Europe PMC
  6. 06
    Conlon PJ4 papers · 2026

    Department of Nephrology & Transplantation, Beaumont Hospital, Dublin, Ireland; Royal College of Surgeons in Ireland, Dublin, Ireland. Electronic address: peterconlon@beaumont.ie.

    Papers in Europe PMC
  7. 07
    Kim Y4 papers · 2021

    Biosciences Division, Structural Biology Center, Argonne National Laboratory, Argonne, Illinois 60439, USA.

    Papers in Europe PMC
  8. 08
    Mihatsch MJ4 papers · 2013

    Institute for Pathology, Basel, Switzerland.

    Papers in Europe PMC
  9. 09
    Wang R4 papers · 2023

    Structural Biology Program and Howard Hughes Medical Institute, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA.

    Papers in Europe PMC
  10. 10
    Airik M3 papers · 2023

    Department of Medicine, Boston Children's Hospital, Boston, Massachusetts.

    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. 4 trials are registered for interstitial nephritis, 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.

medium 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 interstitial nephritis, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: interstitial nephritis

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

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.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

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.

"Karyomegalic interstitial nephritis" OR "Systemic karyomegaly" OR "FAN1 interstitial nephritis" OR "interstitial nephritis caused by mutation in FAN1"

Run this search on Europe PMC

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

"Karyomegalic interstitial nephritis" OR "Systemic karyomegaly" OR "FAN1 interstitial nephritis" OR "interstitial nephritis caused by mutation in FAN1" OR "FAN1" OR "hereditary nephritis"

Recall-expansion terms: FAN1, hereditary nephritis

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

Parent-category trials query:

"interstitial nephritis"

Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: KIN; KMIN

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 2 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T15:29:30.831Z