ORPHA:57
Glycogen storage disease due to aldolase A deficiency
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
14
26.3th percentile
Trials
0
Interventional, condition-specific
Researchers
90
Distinct authors in sample
Gene link
ALDOA
Definitive
Readiness
2/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0012747
- MeSH:C562718
- OMIM:611881
- UMLS:C0272066
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.”
2/6 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.
- Gene identifiedPresent
Definitive — ALDOA
- LiteraturePresent
14 matched papers (9 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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)
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?
14
14 papers have ever been indexed 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.
14 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).
9 in the last 10 years · high confidence · 26.3th percentile (publications denominator)
Phrase hits: 14 · MeSH hits: 0
Who's working on it?
90
Distinct author names in 14 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.
- 01Adeva-Andany MM1 paper · 2016
Nephrology Division, Hospital General Juan Cardona, c/ Pardo Bazán s/n, 15406 Ferrol, Spain.
Papers in Europe PMC - 02Agostini F1 paper · 2026
Charité - Universitätsmedizin Berlin, Institute of Biochemistry, Charitéplatz 1, Berlin, 10117, Germany.
Papers in Europe PMC - 03Ameneiros-Rodríguez E1 paper · 2016
Nephrology Division, Hospital General Juan Cardona, c/ Pardo Bazán s/n, 15406 Ferrol, Spain.
Papers in Europe PMC - 04
- 05Anikster Y1 paper · 2017
Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
Papers in Europe PMC - 06Aran A1 paper · 2017
Hadassah Medical School, Hebrew University, Jerusalem, Israel.
Papers in Europe PMC - 07Balaska K1 paper · 2017
Department of Pathology, 2Department of Radiotherapy/Oncology, Democritus University of Thrace, University Hospital of Alexandroupolis, Alexandroupolis 68100, Greece.
Papers in Europe PMC - 08Bar-Yosef O1 paper · 2017
Talpiot Medical Leadership Program, Sheba Medical Center, Tel-Hashomer, Israel.
Papers in Europe PMC - 09Becker J1 paper · 2015
Department of Neurology, HSL, Pontifícia Universidade Católica do Rio Grande do Sul (PUCRS), Porto Alegre, Rio Grande do Sul, Brazil. jeffersonbecker@hotmail.com.
Papers in Europe PMC - 10Bruno C1 paper · 1998Papers 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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th 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.
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
- NCT06550947·NOT YET RECRUITING·ALDOA Expression in Bladder Urothelial Carcinoma
Conditions: Bladder Urothelial Carcinoma·Matched via name phrase
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 2026-07-26This 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"
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" OR "ALDOA"
Recall-expansion terms: ALDOA
Study-type breakdown: 0 interventional · 1 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 multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T12:15:52.095Z