Search for a rare disease
Other search option(s)
Transaldolase deficiency
Disease 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.
ORPHA:101028
Classification level: DisorderSummary
Epidemiology
Less than ten cases have been reported in the literature so far, all involving children born to consanguineous parents of Turkish and Arabic origin.
Clinical description
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.
Etiology
The disorder is caused by mutations in the transaldolase gene (TALDO1, 11p15.5-p15.4).
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.