RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:250977

AICA-ribosiduria

low confidenceDisorder

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

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

13,289

Trials

1

Interventional, condition-specific

Researchers

447

Distinct authors in sample

Gene link

ATIC

Definitive

Readiness

4/6

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.”

4/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — ATIC

  2. LiteraturePresent

    13,289 matched papers (3,755 in last 10 years) Source

  3. Phenotype characterisedPresent

    33 HPO annotations (e.g. Anteverted nares; Prominent metopic ridge; Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPresent

    1 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)

33

Associated phenotypes · MONDO:0012099

  • Anteverted nares
  • Prominent metopic ridge
  • Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level
  • Frontal bossing
  • Brachycephaly

Showing 5 of 33 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

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?

13,289

13,289 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

13,289 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).

3,755 in the last 10 years · low confidence

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?

1

interventional trials for this specific condition

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

Data as of 11 September 2026 · last trial check 28 July 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

low confidence · 80.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

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 2026-07-30

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 AICA-ribosiduria — 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.

("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 (MESH:"AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency") OR ("ATIC" OR "ATIC syndrome" OR "ATIC-related")

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"

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: 1 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: suspect — strategies attempted: phrase, mesh; 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
  • Publication count (13289) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T10:40:07.452Z