Preferred Label : Transaldolase deficiency;
ICD-11 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.
Less than ten cases have been reported in the literature so far, all involving children
born to consanguineous parents of Turkish and Arabic origin. Dysmorphic features (downward-slanting
palpebral fissures, low-set ears, and cutis laxa) have also been described. The severity
of the symptoms and outcome vary widely. The disorder is caused by mutations in the
transaldolase gene (TALDO1, 11p15.5-p15.4).;
Origin ID : 424536994;
UMLS CUI : C1291329;
Currated CISMeF NLP mapping
- Semantic type(s)
- UMLS correspondences (same concept)
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.
Less than ten cases have been reported in the literature so far, all involving children
born to consanguineous parents of Turkish and Arabic origin. Dysmorphic features (downward-slanting
palpebral fissures, low-set ears, and cutis laxa) have also been described. The severity
of the symptoms and outcome vary widely. The disorder is caused by mutations in the
transaldolase gene (TALDO1, 11p15.5-p15.4).
