RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:46

Adenylosuccinate lyase deficiency

low confidenceDisorder

Also known as: ADSL deficiency · Adenylosuccinase deficiency

Publications

1,731

Trials

1

Interventional, condition-specific

Researchers

1,265

Distinct authors in sample

Gene link

ADSL

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A disorder of purine metabolism characterized by , psychomotor delay and/or regression, , and autistic features.

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 (5)

adenylosuccinase deficiency · adenylosuccinate lyase deficiency · inborn (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity disorder · inborn error of (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity · rare inborn error of (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity

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 — ADSL

  2. LiteraturePresent

    1,731 matched papers (1,161 in last 10 years) Source

  3. Phenotype characterisedPresent

    59 HPO annotations (e.g. Brachycephaly; Smooth philtrum; Long philtrum) 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

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 (ADSL).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

59

Associated phenotypes · MONDO:0007068

  • Brachycephaly
  • Smooth philtrum
  • Long philtrum
  • Generalized hypotonia
  • Absent speech

Showing 5 of 59 — 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 2026-07-27

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

1

Drugs / clinical candidates · MONDO_0007068

CTD chemicals (MyDisease.info)

3 associated chemicals · 8 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • succinyladenosine · marker/mechanism
  • succinyladenosine monophosphate · marker/mechanism
  • succinylaminoimidazole carboxamide riboside · marker/mechanism

Pathways: Purine metabolism; Alanine, aspartate and glutamate metabolism; Metabolic pathways; Inosine monophosphate biosynthesis, PRPP + glutamine => IMP; Adenine ribonucleotide biosynthesis, IMP => ADP,ATP; Metabolism; Metabolism of nucleotides; Purine ribonucleoside monophosphate biosynthesis

MyDisease.info · MONDO:0007068

Literature

Is anyone studying this?

1,731

1,731 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=3967) is 59.

1,731 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).

1,161 in the last 10 years · low confidence

Phrase hits: 391 · MeSH hits: 3

Open Europe PMC search

Who's working on it?

1,265

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
    Zhang Y9 papers · 2026

    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, P.R. China.

    Papers in Europe PMC
  2. 02
    Zikanova M9 papers · 2026

    Institute of Inherited Metabolic Disorders, Charles University in Prague, First Faculty of Medicine, Ke Karlovu 2, Prague 2, Czech Republic.

    Papers in Europe PMC
  3. 03
    Skopova V8 papers · 2026

    Department of Paediatrics, Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, General University Hospital in Prague, Prague, Czech Republic.

    Papers in Europe PMC
  4. 04
    Wang Y8 papers · 2026

    Department of Thoracic Surgery, Affiliated Hospital 6 of Nantong University, Yancheng Third People's Hospital, Yancheng, Jiangsu 224000, P.R. China.

    Papers in Europe PMC
  5. 05
    Kmoch S7 papers · 2026

    Department of Paediatrics, Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, General University Hospital in Prague, Prague, Czech Republic.

    Papers in Europe PMC
  6. 06
    Shen Y7 papers · 2026

    Department of Psychiatry, National Clinical Research Center for Mental Disorders, The Second Xiangya Hospital of Central South University, Changsha, Hunan, China.

    Papers in Europe PMC
  7. 07
    Wang S7 papers · 2026

    Guizhou Grassland Technology Experiment and Extension Station, Guiyang 550025, China.

    Papers in Europe PMC
  8. 08
    Zhou Y7 papers · 2026

    The Second Affiliated Hospital of Shandong University of Traditional Chinese Medicine, 1 Jingba Road, Jinan, Shandong Province, China.

    Papers in Europe PMC
  9. 09
    Baresova V6 papers · 2026

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

    Papers in Europe PMC
  10. 10
    Chen X6 papers · 2026

    Department of Geriatric Medicine, Shenzhen Longhua District Central Hospital, Shenzhen, China.

    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; none in our sample are currently recruiting.

Data as of 9 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.

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

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.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

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 2026-07-27

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 Adenylosuccinate lyase deficiency — 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.

("Adenylosuccinate lyase deficiency" OR "ADSL deficiency" OR "Adenylosuccinase deficiency") OR (MESH:"Adenylosuccinate lyase deficiency") OR ("ADSL" OR "ADSL syndrome" OR "ADSL-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Adenylosuccinate lyase deficiency

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

"Adenylosuccinate lyase deficiency" OR "ADSL deficiency" OR "Adenylosuccinase deficiency"

Interventional trials matched via: both (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 · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: inborn (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity disorder; inborn error of (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity; rare inborn error of (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity

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 (1731) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T02:00:54.776Z