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ORPHA:57

Glycogen storage disease due to aldolase A deficiency

low confidenceDisorder

Also known as: GSD due to aldolase A deficiency · GSD type 12 · GSD type XII · Glycogen storage disease type 12 · Glycogen storage disease type XII · Glycogenosis due to aldolase A deficiency · Glycogenosis type 12 · Glycogenosis type XII

Publications

5,847

Trials

0

Interventional, condition-specific

Researchers

1,233

Distinct authors in sample

Gene link

ALDOA

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Glycogen storage disease due to aldolase A deficiency is an extremely rare glycogen storage disease characterized by hemolytic anemia with or without or intellectual deficit. can be severe enough to result in fatal rhabdomyolysis in some patients. A family with episodic rhabdomyolysis (triggered by fever) without hemolytic anemia has recently been reported.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (6)

glycogen storage disease due to aldolase A deficiency · glycogen storage disease type 12 · glycogen storage disease type XII · glycogenosis due to aldolase A deficiency · glycogenosis type 12 · glycogenosis type XII

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

No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.

  1. Gene identifiedPresent

    Definitive — ALDOA

  2. LiteraturePresent

    5,847 matched papers (4,628 in last 10 years) Source

  3. Phenotype characterisedPresent

    49 HPO annotations (e.g. Anemia; Muscle weakness; Jaundice) 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 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 (ALDOA).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

49

Associated phenotypes · MONDO:0012747

  • Anemia
  • Muscle weakness
  • Jaundice
  • Myopathy
  • Muscle fiber splitting

Showing 5 of 49 — 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?

5,847

5,847 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.

5,847 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).

4,628 in the last 10 years · low confidence

Phrase hits: 14 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,233

Distinct author names in 200 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.

  1. 01
    Zhang Y18 papers · 2026

    Department of Thoracic Surgery, Jiangsu Cancer Hospital, Jiangsu Institute of Cancer Research, Nanjing Medical University Affiliated Cancer Hospital, Nanjing 210009, China; Jiangsu Key Laboratory of Molecular and Translational Cancer Research, Nanjing Medical University Affiliated Cancer Hospital, Cancer Institute of Jiangsu Province, Nanjing 210009, China.

    Papers in Europe PMC
  2. 02
    Li X10 papers · 2026

    Xi'an Key Laboratory of Toxicology and Biological Effects, Research Center for Toxicological and Biological Effects, Institute for Hygiene of Ordnance Industry, Xi'an, 710065, China.

    Papers in Europe PMC
  3. 03
    Wang S10 papers · 2026

    Department of Respiratory Medicine, Shanghai Xuhui Central Hospital, Zhongshan-Xuhui Hospital, Fudan University, Shanghai, 200031, China.

    Papers in Europe PMC
  4. 04
    Zhang H10 papers · 2026

    Center for Reproductive Medicine and Center for Prenatal Diagnosis, First Hospital, Jilin University, Changchun, 130021, China. zhanghguo@jlu.edu.cn.

    Papers in Europe PMC
  5. 05
    Wang J9 papers · 2026

    Department of Clinical Laboratory, National Clinical Research Center for Cancer, Key Laboratory of Cancer Prevention and Therapy, Tianjin's Clinical Research Center for Cancer, Tianjin Medical University Cancer Institute and Hospital, Tianjin, China.

    Papers in Europe PMC
  6. 06
    Wang Y9 papers · 2026

    Laboratory of Neuro-oncology, Tianjin Neurological Institute, Tianjin Medical University General Hospital, Tianjin, China.

    Papers in Europe PMC
  7. 07
    Wang Z9 papers · 2026

    School of Pharmacy, University of Wisconsin-Madison, Madison, Wisconsin 53705, United States.

    Papers in Europe PMC
  8. 08
    Zhang C9 papers · 2026

    Department of Hematology, Beijing Luhe Hospital, Capital Medical University, Beijing 101199, P.R. China.

    Papers in Europe PMC
  9. 09
    Chen J8 papers · 2026

    Department of Medical Genetics, National Health Commission Key Laboratory of Birth Defects for Research and Prevention, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, No. 53 Xiangchun Road, Hunan, 410008, China.

    Papers in Europe PMC
  10. 10
    Chen Y8 papers · 2026

    Department of Thoracic Surgery, Jiangsu Cancer Hospital, Jiangsu Institute of Cancer Research, Nanjing Medical University Affiliated Cancer Hospital, Nanjing 210009, China; Jiangsu Key Laboratory of Molecular and Translational Cancer Research, Nanjing Medical University Affiliated Cancer Hospital, Cancer Institute of Jiangsu Province, Nanjing 210009, China.

    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 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th 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.

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 3 · after dedupe 3 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 3 · dropped 0 · fetched 2026-07-29

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).

Uncertain / not reviewed (3)

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 Glycogen storage disease due to aldolase A 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.

("Glycogen storage disease due to aldolase A deficiency" OR "GSD due to aldolase A deficiency" OR "GSD type 12" OR "GSD type XII" OR "Glycogen storage disease type 12" OR "Glycogen storage disease type XII" OR "Glycogenosis due to aldolase A deficiency" OR "Glycogenosis type 12" OR "Glycogenosis type XII") OR ("ALDOA" OR "ALDOA syndrome" OR "ALDOA-related")

Run this search on Europe PMC

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

"Glycogen storage disease due to aldolase A deficiency" OR "GSD due to aldolase A deficiency" OR "GSD type 12" OR "GSD type XII" OR "Glycogen storage disease type 12" OR "Glycogen storage disease type XII" OR "Glycogenosis due to aldolase A deficiency" OR "Glycogenosis type 12" OR "Glycogenosis type XII"

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

Query health: ok — strategies attempted: phrase; 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 (5847) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T12:15:52.095Z