transaldolase deficiency
Findings
No curated finding names transaldolase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0011624), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
19 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal circulating glutamine concentrationHPOHP:0010903
- Very frequent (80% to 99% of cases)
- AnemiaHPOHP:0001903
- Very frequent (80% to 99% of cases)
- CirrhosisHPOHP:0001394
- Very frequent (80% to 99% of cases)
- HepatosplenomegalyHPOHP:0001433
- Very frequent (80% to 99% of cases)
- Increased serum bile acid concentrationHPOHP:0012202
- Very frequent (80% to 99% of cases)
- ThrombocytopeniaHPOHP:0001873
- Very frequent (80% to 99% of cases)
Show the remaining 7
- TelangiectasiaHPOHP:0001009
- Frequent (30% to 79% of cases)
- Abnormal respiratory system physiologyHPOHP:0002795
- Occasional (5% to 29% of cases)
- Atrial septal defectHPOHP:0001631
- Occasional (5% to 29% of cases)
- Biventricular hypertrophyHPOHP:0200128
- Occasional (5% to 29% of cases)
- Coarctation of aortaHPOHP:0001680
- Occasional (5% to 29% of cases)
- Global developmental delayHPOHP:0001263
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- TALDO1HGNC:11559
- Definitive · G2P · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2019
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: transaldolase deficiency
- Also called
- TALDO deficiency