RARE DISEASERESEARCH ATLAS
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ORPHA:90

Argininemia

low confidenceDisorder

Also known as: Arginase 1 deficiency · Arginase deficiency · Hyperargininemia

Publications

1,099

Trials

7

Interventional, condition-specific

Researchers

1,263

Distinct authors in sample

Gene link

ARG1

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare amino acid metabolism disorder characterized by variable degrees of leading to loss of developmental milestones and spasticity in the absence of treatment.

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 (3)

arginase deficiency · argininemia · hyperargininemia

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

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — ARG1

  2. LiteraturePresent

    1,099 matched papers (589 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 trialPresent

    7 matched on ClinicalTrials.gov (1 recruiting in sample)

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 (ARG1).

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?

1,099

1,099 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.

1,099 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).

589 in the last 10 years · low confidence

Phrase hits: 1,099 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,263

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Cederbaum SD11 papers · 2023

    1] Department of Pediatrics, David Geffen School of Medicine at UCLA, Los Angeles, California, USA [2] Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, California, USA [3] Department of Psychiatry, David Geffen School of Medicine at UCLA, Los Angeles, California, USA [4] The Intellectual and Developmental Disabilities Research Center at UCLA, David Geffen School of Medicine at UCLA, Los Angeles, California, USA [5] The Semel Institute for Neuroscience, David Geffen School of Medicine at UCLA, Los Angeles, California, USA.

    Papers in Europe PMC
  2. 02
    Lipshutz GS11 papers · 2026

    1] Department of Surgery, David Geffen School of Medicine at UCLA, Los Angeles, California, USA [2] Department of Psychiatry, David Geffen School of Medicine at UCLA, Los Angeles, California, USA [3] The Intellectual and Developmental Disabilities Research Center at UCLA, David Geffen School of Medicine at UCLA, Los Angeles, California, USA [4] The Semel Institute for Neuroscience, David Geffen School of Medicine at UCLA, Los Angeles, California, USA [5] Department of Medicine, David Geffen School of Medicine at UCLA, Los Angeles, California, USA [6] Department of Urology, David Geffen School of Medicine at UCLA, Los Angeles, California, USA [7] Broad Center of Regenerative Medicine and Stem Cell Research, David Geffen School of Medicine at UCLA, Los Angeles, California, USA.

    Papers in Europe PMC
  3. 03
    Häberle J8 papers · 2026

    Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.

    Papers in Europe PMC
  4. 04
    Schulze A8 papers · 2026

    Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada; Departments of Pediatrics and Biochemistry, University of Toronto, Toronto, Canada.

    Papers in Europe PMC
  5. 05
    Diaz GA6 papers · 2024

    Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York City, NY, United States.

    Papers in Europe PMC
  6. 06
    Funk CD6 papers · 2021

    Department of Biomedical and Molecular Sciences, Queen's University, Kingston, Ontario, Canada. funkc@queensu.ca.

    Papers in Europe PMC
  7. 07
    Liu Y6 papers · 2026

    Simon-Kucher & Partners, Global Strategy and Marketing Consulting, Shanghai, China.

    Papers in Europe PMC
  8. 08
    Ballantyne LL5 papers · 2021

    Department of Biomedical and Molecular Sciences, Queen's University, Kingston, Ontario, Canada.

    Papers in Europe PMC
  9. 09
    Gasperini S5 papers · 2026

    Pediatric Rare Diseases Unit, Fondazione IRCCS San Gerardo dei Tintori, 20900 Monza, Italy.

    Papers in Europe PMC
  10. 10
    Rudebeck M5 papers · 2026

    Immedica Pharma AB, Stockholm, Sweden.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

7

interventional trials for this specific condition

7 interventional trials matched this specific condition name; 1 currently recruiting in our sample.

Data as of 27 July 2026

7 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 89.9th percentile).

low confidence · 89.9th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

7 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

6 observational studies match 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

General rare disease registries you may be eligible for

These studies enroll across many rare conditions. They are not counted as evidence that anyone is studying this specific disease.

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

Likely covered — the policy lists Urea cycle disorder as a category (Groups 1 and 2), and this condition is a form of it. Confirm eligibility with a Centre of Excellence.

Group 1 — one-time curative treatment

Up to ₹50 lakh per patient

Financial support for treatment at notified Centres of Excellence (figures evolved from the original ₹20 lakh Group-1 ceiling).

Policy figures change. Verify current MoHFW / CoE guidance before relying on any amount. Verify

Group 2 — long-term / lifelong lower-cost interventions

NPRD envisages State Government support for dietary formulae, hormones, and other lower-cost interventions. This is a different route from the central CoE ₹50 lakh pathway; ask your state health department and a CoE which channel applies.

Central CoE funding may also apply depending on current rules — confirm with a notified Centre of Excellence. Do not assume the ₹50 lakh ceiling covers Group 2 by default. Verify

Centres of Excellence (15)
  • All India Institute of Medical Sciences (AIIMS) — New Delhi, Delhi
  • Maulana Azad Medical College — New Delhi, Delhi
  • Sanjay Gandhi Post Graduate Institute of Medical Sciences — Lucknow, Uttar Pradesh
  • Post Graduate Institute of Medical Education and Research (PGIMER) — Chandigarh, Chandigarh
  • Centre for DNA Fingerprinting & Diagnostics with Nizam’s Institute of Medical Sciences — Hyderabad, Telangana
  • King Edward Memorial Hospital — Mumbai, Maharashtra
  • Institute of Post-Graduate Medical Education and Research (IPGMER) — Kolkata, West Bengal
  • Centre for Human Genetics with Indira Gandhi Hospital — Bengaluru, Karnataka
  • Institute of Child Health and Hospital for Children (ICH & HC) — Chennai, Tamil Nadu
  • All India Institute of Medical Sciences (AIIMS) — Jodhpur, Rajasthan
  • Sree Avittam Thirunal Hospital (SAT), Government Medical College — Thiruvananthapuram, Kerala
  • All India Institute of Medical Sciences (AIIMS) — Bhopal, Madhya Pradesh
  • Regional Institute of Medical Sciences (RIMS) — Imphal, Manipur
  • All India Institute of Medical Sciences (AIIMS) — Patna, Bihar
  • Assam Medical College & Hospital — Dibrugarh, Assam

Voluntary contributions / crowdfunding (separate from CoE funding): https://rarediseases.mohfw.gov.in/

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.

"Argininemia" OR "Arginase 1 deficiency" OR "Arginase deficiency" OR "Hyperargininemia"

Run this search on Europe PMC

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

"Argininemia" OR "Arginase 1 deficiency" OR "Arginase deficiency" OR "Hyperargininemia" OR "ARG1"

Recall-expansion terms: ARG1

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 7 interventional · 6 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

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 (1099) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T12:22:43.765Z