ORPHA:101028
Transaldolase deficiency
Also known as: TALDO deficiency
Publications
152
66.6th percentile
Trials
0
Interventional, condition-specific
Researchers
918
Distinct authors in sample
Gene link
TALDO1
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the or antenatal period with hydrops fetalis, , hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities.
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0011624
- MeSH:C563207
- OMIM:606003
- UMLS:C1291329
Additional Mondo synonyms (1)
transaldolase deficiency
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 — TALDO1
- LiteraturePresent
152 matched papers (102 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 (TALDO1).
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?
152
152 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.
152 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).
102 in the last 10 years · medium confidence · 66.6th percentile (publications denominator)
Phrase hits: 152 · MeSH hits: 1
Who's working on it?
918
Distinct author names in 152 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.
- 01Jakobs C17 papers · 2014Papers in Europe PMC
- 02Wamelink MM15 papers · 2015
Metabolic Unit, Department of Clinical Chemistry, VU University Medical Centre Amsterdam, De Boelelaaan 1117, 1081 HV Amsterdam, The Netherlands.
Papers in Europe PMC - 03Salomons GS12 papers · 2019
Metabolic Unit, Department of Clinical Chemistry, Neuroscience Campus Amsterdam, VU University Medical Center Amsterdam, 1081 HV Amsterdam, the Netherlands.
Papers in Europe PMC - 04Perl A9 papers · 2023
Division of Rheumatology, Department of Medicine, State University of New York, Upstate Medical University, Syracuse, NY, USA. Electronic address: perla@upstate.edu.
Papers in Europe PMC - 05Huck JH8 papers · 2005
Department of Child Neurology, Vrije Universiteit Medical Center, Amsterdam, The Netherlands.
Papers in Europe PMC - 06Verhoeven NM8 papers · 2007
Metabolic Unit, Department of Clinical Chemistry, VU Medical Center, 1007 MB Amsterdam, The Netherlands. N.Verhoeven@AZVU.NL
Papers in Europe PMC - 07Struys EA7 papers · 2008Papers in Europe PMC
- 08Tylki-Szymańska A7 papers · 2021
Klinika Chorób Metabolicznych, Instytut Pomnik-Centrum Zdrowia Dziecka, Warszawa. a.tylki@czd.pl
Papers in Europe PMC - 09Valayannopoulos V6 papers · 2019
Metabolic Unit, Necker-Enfants Malades Hospital and the Fetopathology Department, Saint Antoine Hospital, Paris, France.
Papers in Europe PMC - 10Banki K5 papers · 2023
Division of Rheumatology, Department of Pathology, State University of New York, Upstate Medical University, Syracuse, NY, USA.
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 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.
medium 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.
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.
"Transaldolase deficiency" OR "TALDO deficiency"
MeSH descriptor terms unioned into the query: Transaldolase Deficiency
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Transaldolase deficiency" OR "TALDO deficiency" OR "TALDO1"
Recall-expansion terms: TALDO1
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is short or not clearly distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T07:13:29.113Z