ORPHA:2116
Hartnup disease
Also known as: Aminoaciduria, Hartnup type · Hartnup disorder
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
739
81.2th percentile
Trials
0
Interventional, condition-specific
Researchers
1,106
Distinct authors in sample
Gene link
SLC6A19
Definitive
Readiness
2/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009324
- MeSH:D006250
- OMIM:234500
- UMLS:C0018609
- NCIT:C84748
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.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — SLC6A19
- LiteraturePresent
739 matched papers (237 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 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)
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?
739
739 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.
739 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).
237 in the last 10 years · medium confidence · 81.2th percentile (publications denominator)
Phrase hits: 739 · MeSH hits: 0
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.
- 01Bröer S17 papers · 2024
Research School of Biology, Australian National University, Canberra, ACT 2601, Australia. stefan.broeer@anu.edu.au.
Papers in Europe PMC - 02Rasko JE8 papers · 2011Papers in Europe PMC
- 03Bröer 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 - 04Yan 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 - 05Chen Z5 papers · 2025
Department of Colorectal Surgery, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Papers in Europe PMC - 06Li 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 - 07Penninger 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 - 08Verrey F5 papers · 2020
Institute of Physiology, University of Zurich, Zurich, Switzerland.
Papers in Europe PMC - 09Camargo SM4 papers · 2015
Institute of Physiology and Zürich Center for Integrative Human Physiology, University of Zurich, Zurich, Switzerland.
Papers in Europe PMC - 10Cavanaugh JA4 papers · 2008Papers 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 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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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.
"Hartnup disease" OR "Aminoaciduria, Hartnup type" OR "Hartnup disorder"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Hartnup disease" OR "Aminoaciduria, Hartnup type" OR "Hartnup disorder" OR "SLC6A19"
Recall-expansion terms: SLC6A19
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; 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