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ORPHA:2116

Hartnup disease

medium confidenceDisorder

Also known as: Aminoaciduria, Hartnup type · Hartnup disorder

Publications

1,830

88th percentile

Trials

0

Interventional, condition-specific

Researchers

1,106

Distinct authors in sample

Gene link

SLC6A19

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare disorder belonging to the neutral aminoacidurias, mainly characterized by skin photosensitivity, ocular and neuropsychiatric features, due to abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine).

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

aminoaciduria, Hartnup type

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

    Definitive — SLC6A19

  2. LiteraturePresent

    1,830 matched papers (1,162 in last 10 years) Source

  3. Phenotype characterisedPresent

    48 HPO annotations (e.g. Emotional lability; Hallucinations; Cutaneous photosensitivity) 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?

Yes — we know a specific gene responsible (SLC6A19).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

48

Associated phenotypes · MONDO:0009324

  • Emotional lability
  • Hallucinations
  • Cutaneous photosensitivity
  • Ataxia
  • Hypotonia

Showing 5 of 48 — 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?

1,830

1,830 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.

1,830 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).

1,162 in the last 10 years · medium confidence · 88th percentile (publications denominator)

Phrase hits: 739 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,106

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
    Bröer S17 papers · 2024

    Research School of Biology, Australian National University, Canberra, ACT 2601, Australia. stefan.broeer@anu.edu.au.

    Papers in Europe PMC
  2. 02
    Rasko JE8 papers · 2011
    Papers in Europe PMC
  3. 03
    Bröer A6 papers · 2024

    Research School of Biology, Australian National University, Canberra, Australian Capital Territory 0200, Australia. Stefan.broer@anu.edu.au

    Papers in Europe PMC
  4. 04
    Yan R6 papers · 2024

    Key Laboratory of Structural Biology of Zhejiang Province, Institute of Biology, Westlake Institute for Advanced Study, School of Life Sciences, Westlake University, 18 Shilongshan Road, Hangzhou 310024, Zhejiang Province, China

    Papers in Europe PMC
  5. 05
    Chen Z5 papers · 2025

    Department of Colorectal Surgery, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.

    Papers in Europe PMC
  6. 06
    Li Y5 papers · 2023

    State Key Laboratory of Dampness Syndrome of Chinese Medicine, The Second Affiliated Hospital of Guangzhou University of Chinese Medicine, Guangzhou, China.

    Papers in Europe PMC
  7. 07
    Penninger JM5 papers · 2023

    Institute of Molecular Biotechnology of the Austrian Academy of Science, Vienna, Austria; Department of Medical Genetics, Life Sciences Institute, University of British Columbia, Vancouver, BC, Canada. Electronic address: josef.penninger@ubc.ca.

    Papers in Europe PMC
  8. 08
    Verrey F5 papers · 2020

    Institute of Physiology, University of Zurich, Zurich, Switzerland.

    Papers in Europe PMC
  9. 09
    Camargo SM4 papers · 2015

    Institute of Physiology and Zürich Center for Integrative Human Physiology, University of Zurich, Zurich, Switzerland.

    Papers in Europe PMC
  10. 10
    Cavanaugh JA4 papers · 2008
    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.

medium 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 2026-07-29

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 Hartnup disease — 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.

("Hartnup disease" OR "Aminoaciduria, Hartnup type" OR "Hartnup disorder") OR ("SLC6A19" OR "SLC6A19 syndrome" OR "SLC6A19-related")

Run this search on Europe PMC

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

"Hartnup disease" OR "Aminoaciduria, Hartnup type" OR "Hartnup disorder"

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

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

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

Ingested 2026-07-26T19:09:52.582Z