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transaldolase deficiency

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description 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.
Uniprot Description An inborn error of the pentose phosphate pathway resulting in early-onset multisystem disease. Clinical features include growth retardation, dysmorphic features, cutis laxa, congenital heart disease, hepatosplenomegaly, telangiectases of the skin, pancytopenia, and bleeding tendency.
Mondo Term and Equivalent IDs
MONDO:0011624:  transaldolase deficiency
GARD:0010445: 
MESH:C563207: 
Orphanet:101028: 
SCTID:124252008: 
UMLS:C1291329: