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ORPHA:97352

Pellagra

low confidenceDisorder

Publications

7,613

Trials

0

Interventional, condition-specific

Researchers

893

Distinct authors in sample

Gene link

KMO

Limited

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

Pellagra is a nutritional disorder caused by a deficiency in niacin (vitamin B3) or its precursor (tryptophan) that is mainly observed in Asia and Africa where it is generally due to poor nutrition. It is characterized by dermatitis (symmetrical photodistributed erythema that may be accompanied by vesicles and bullae, and that develops into hyperkeratotic and hyperpigmented skin), gastrointestinal symptoms (diarrhea), and neuropsychiatric disorders (dementia). It can be life-threatening without a correct management.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (1)

pellagra

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.”

4/6 stages with a signal

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Limited — KMO

  2. LiteraturePresent

    7,613 matched papers (1,267 in last 10 years) Source

  3. Phenotype characterisedPresent

    44 HPO annotations (e.g. Cutaneous photosensitivity; Vomiting; Delirium) 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 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?

Possibly — only limited evidence so far for KMO.

GenCC classification: Limited.

Phenotypes (Monarch / HPO)

44

Associated phenotypes · MONDO:0019975

  • Cutaneous photosensitivity
  • Vomiting
  • Delirium
  • Depression
  • Dementia

Showing 5 of 44 — 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)

3 associated chemicals. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Niacin · therapeutic
  • Isoniazid · marker/mechanism
  • NAD · marker/mechanism

MyDisease.info · MONDO:0019975

Literature

Is anyone studying this?

7,613

7,613 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.

7,613 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).

1,267 in the last 10 years · low confidence

Phrase hits: 7,605 · MeSH hits: 235

Open Europe PMC search

Who's working on it?

893

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
    Kuroita T4 papers · 2023

    Translational Research Unit, Biomarker R&D Department, Shionogi Co. Ltd, Toyonaka, Japan.

    Papers in Europe PMC
  2. 02
    Kuronuma K4 papers · 2023

    Department of Respiratory Medicine and Allergology, Sapporo Medical University School of Medicine, Sapporo, Japan.

    Papers in Europe PMC
  3. 03
    Yoshioka T4 papers · 2023

    Translational Research Unit, Biomarker R&D Department, Shionogi Co. Ltd, Toyonaka, Japan.

    Papers in Europe PMC
  4. 04
    Sharma A3 papers · 2026

    Department of Medical Affairs, Alkem Laboratories Ltd., Mumbai, IND.

    Papers in Europe PMC
  5. 05
    Susai N3 papers · 2023

    Translational Research Unit, Infectious Disease Marker, Biomarker R&D Department, Shionogi & Co., Ltd., 3-1-1 Futaba-cho, Toyonaka, Osaka 561-0825, Japan.

    Papers in Europe PMC
  6. 06
    Wang Y3 papers · 2025

    Shandong Food Ferment Industry & Design Institute, QiLu University of Technology (Shandong Academy of Sciences), No. 41, Jiefang Road, Jinan 250013, China.

    Papers in Europe PMC
  7. 07
    Ahmed A2 papers · 2023

    Psychiatry, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research, Wardha, IND.

    Papers in Europe PMC
  8. 08
    Baur JA2 papers · 2024

    Department of Physiology, Institute for Diabetes, Obesity & Metabolism, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.

    Papers in Europe PMC
  9. 09
    Bertlich I2 papers · 2022

    Hautklinik, Universitätsklinikum Heidelberg, Heidelberg, Deutschland.

    Papers in Europe PMC
  10. 10
    Bertlich M2 papers · 2022

    Abteilung für Dermatologie, Universitätsklinikum Bonn, Bonn, Deutschland.

    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 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.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

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 Pellagra — 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.

("Pellagra") OR (MESH:"Pellagra") OR ("KMO syndrome" OR "KMO-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Pellagra

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

"Pellagra"

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

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

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (7613) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T05:12:47.602Z