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ORPHA:250977

AICA-ribosiduria

high confidenceDisorder

Also known as: 5-amino-4-imidazole carboxamide ribosiduria · AICA-ribosiduria due to ATIC deficiency · AICAR transformylase/IMP cyclohydrolase deficiency · ATIC deficiency

Publications

77

54.3th percentile

Trials

2

Interventional, condition-specific

Researchers

447

Distinct authors in sample

Gene link

ATIC

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare and severe inborn disease characterized clinically by the association of severe-to-profound neurodevelopmental impairment, severe visual impairment, ante-postnatal growth impairment, severe scoliosis and, frequently, early-onset .

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.

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 — ATIC

  2. LiteraturePresent

    77 matched papers (53 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

    2 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 (ATIC).

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?

77

77 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.

77 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).

53 in the last 10 years · high confidence · 54.3th percentile (publications denominator)

Phrase hits: 77 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

447

Distinct author names in 77 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
    Baresova V8 papers · 2025

    Institute of Inherited Metabolic Disorders, Charles University in Prague and General University Hospital in Prague, 128 08 Prague 2, Czech Republic.

    Papers in Europe PMC
  2. 02
    Kmoch S5 papers · 2025

    Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, General University Hospital in Prague, Ke Karlovu 2, 128 08 Praha 2, Czech Republic.

    Papers in Europe PMC
  3. 03
    Patterson D5 papers · 2021

    Knoebel Institute for Healthy Aging, University of Denver, Denver, Colorado, United States of America.

    Papers in Europe PMC
  4. 04
    Skopova V5 papers · 2025

    Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, General University Hospital in Prague, Ke Karlovu 2, 128 08 Praha 2, Czech Republic.

    Papers in Europe PMC
  5. 05
    Zikanova M5 papers · 2025

    Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, General University Hospital in Prague, Ke Karlovu 2, 128 08 Praha 2, Czech Republic. Electronic address: mzika@lf1.cuni.cz.

    Papers in Europe PMC
  6. 06
    Zikánová M5 papers · 2022

    Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.

    Papers in Europe PMC
  7. 07
    Adam T4 papers · 2022

    Institute of Molecular and Translational Medicine, Faculty of Medicine and Dentistry, Palacký University and University Hospital in Olomouc, Olomouc, Czech Republic.

    Papers in Europe PMC
  8. 08
    Friedecký D4 papers · 2022

    Laboratory for Inherited Metabolic Disorders, Department of Clinical Biochemistry, University Hospital Olomouc, Olomouc, Czech Republic.

    Papers in Europe PMC
  9. 09
    Huo Y4 papers · 2026

    Vascular Biology Center (Q.M., Q.Y., J.X., X.Z., D.K., Z.L., X.M., Y.C., H.W.K., N.L.W., D.F., Y.H.), Medical College of Georgia, Augusta University.

    Papers in Europe PMC
  10. 10
    Krijt M4 papers · 2025

    Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, General University Hospital in Prague, Ke Karlovu 2, 128 08 Praha 2, Czech Republic.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

2

interventional trials for this specific condition

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

Data as of 27 July 2026

2 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 82.4th percentile).

high confidence · 82.4th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

1 observational study matches 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.

None of the matched observational studies is currently listed as recruiting.

Open the complete matched search on ClinicalTrials.gov

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

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.

"AICA-ribosiduria" OR "5-amino-4-imidazole carboxamide ribosiduria" OR "AICA-ribosiduria due to ATIC deficiency" OR "AICAR transformylase/IMP cyclohydrolase deficiency" OR "ATIC deficiency"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency

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

"AICA-ribosiduria" OR "5-amino-4-imidazole carboxamide ribosiduria" OR "AICA-ribosiduria due to ATIC deficiency" OR "AICAR transformylase/IMP cyclohydrolase deficiency" OR "ATIC deficiency" OR "AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency" OR "ATIC"

Recall-expansion terms: ATIC

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

Study-type breakdown: 2 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

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 2026-07-27T10:40:07.452Z