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transaldolase deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

transaldolase deficiency

MONDO:0011624

Also known as:TALDO deficiencyEyaid syndrome

Overview

Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities.

GeneticsAutosomal recessive · TALDO1 (chr 11)

OnsetCONGENITAL

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Liver scarring (cirrhosis) (cirrhosis), Low red blood cell count (anemia), Hepatosplenomegaly, and Low platelet count (thrombocytopenia) and others; and common findings: Telangiectasia, Abnormal clitoris morphology, Abnormality of the kidney, and Edema and others. 44 total HPO annotations.

Organ System	Phenotype Count	Example Features
Digestive system	7	Decreased liver function, Liver scarring (fibrosis) (hepatic fibrosis), Liver scarring (cirrhosis) (cirrhosis)

Genetic Landscape

TALDO1 function has not been fully characterized.

Transaldolase deficiency is associated with mutations in the TALDO1 gene on chromosome 11.

Diagnosis

Genetic testing for TALDO1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 6 very common features, 7 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for transaldolase deficiency.

10 publications have been identified in PubMed for transaldolase deficiency. Research spans Case Report / Case Series (50%), Epidemiology / Natural History (30%), and Other (10%).

Research Type	Count	% of Total
Patient case studies	5	50%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 6:53 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:606003

Orphanet

European rare disease database

Orphanet:101028

GARD

Genetic and Rare Diseases Info Center

GARD:10445

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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transaldolase deficiency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

transaldolase deficiency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications