ORPHA:2195
Dicarboxylic aminoaciduria
Also known as: Glutamate-aspartate transport defect
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
86
51.2th percentile
Trials
0
Interventional, condition-specific
Researchers
562
Distinct authors in sample
Gene link
SLC1A1
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare inborn error of metabolism characterized by increased urinary excretion of dicarboxylic amino acids, glutamate and aspartate, that can be associated with kidney stones and neuropsychiatric manifestations.
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:0009110
- MeSH:C536171
- OMIM:222730
- UMLS:C1857253
Additional Mondo synonyms (2)
dicarboxylic aminoaciduria · glutamate-aspartate transport defect
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
Strong — SLC1A1
- LiteraturePresent
86 matched papers (44 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 (SLC1A1).
GenCC classification: Strong.
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?
86
86 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.
86 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).
44 in the last 10 years · high confidence · 51.2th percentile (publications denominator)
Phrase hits: 86 · MeSH hits: 0
Who's working on it?
562
Distinct author names in 86 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 S4 papers · 2018
School of Biochemistry and Molecular Biology, Australian National University, Canberra, Australian Capital Territory, Australia. stefan.broeer@anu.edu.au
Papers in Europe PMC - 02Danbolt NC4 papers · 2015
Department of Anatomy, Institute of Basic Medical Sciences, University of Oslo, N-0317 Oslo, Norway.
Papers in Europe PMC - 03Faccenda E4 papers · 2019
Centre for Integrative Physiology, University of Edinburgh, Edinburgh, EH8 9XD, UK.
Papers in Europe PMC - 04Pawson AJ4 papers · 2019
Centre for Integrative Physiology, University of Edinburgh, Edinburgh, EH8 9XD, UK.
Papers in Europe PMC - 05Peters JA4 papers · 2019
Neuroscience Division, Medical Education Institute, Ninewells Hospital and Medical School, University of Dundee, Dundee, DD1 9SY, UK.
Papers in Europe PMC - 06Sharman JL4 papers · 2019
Centre for Integrative Physiology, University of Edinburgh, Edinburgh, EH8 9XD, UK.
Papers in Europe PMC - 07Zhou Y4 papers · 2015
Department of Anatomy, Institute of Basic Medical Sciences, University of Oslo, N-0317 Oslo, Norway.
Papers in Europe PMC - 08Alexander SP3 papers · 2017
School of Biomedical Sciences, University of Nottingham Medical School, Nottingham, NG7 2UH, UK.
Papers in Europe PMC - 09Arnold PD3 papers · 2017
Genetics & Genome Biology, The Hospital for Sick Children; Toronto, Ontario.
Papers in Europe PMC - 10Bockenhauer D3 papers · 2021
Department of Renal Medicine, University College London, London, United Kingdom.
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 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.
high 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.
"Dicarboxylic aminoaciduria" OR "Glutamate-aspartate transport defect"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Dicarboxylic aminoaciduria" OR "Glutamate-aspartate transport defect" OR "SLC1A1"
Recall-expansion terms: SLC1A1
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 multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T19:25:29.498Z