Details of Disease | DrugMAP

General Information of Disease (ID: DIS2FSVR)

Disease Name	Transaldolase deficiency
Synonyms	Taldo deficiency; Eyaid syndrome; TALDO deficiency; transaldolase deficiency
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.
Disease Hierarchy	DISR5M3F: Inborn disorder of pentose phosphate metabolism DIS2FSVR: Transaldolase deficiency
Disease Identifiers	MONDO ID MONDO_0011624 MESH ID C563207 UMLS CUI C1291329 OMIM ID 606003 MedGen ID 224855 Orphanet ID 101028 SNOMED CT ID 124252008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TALDO1	OTDKV2S2	Definitive	Autosomal recessive	[1]
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References

1	Transaldolase deficiency: liver cirrhosis associated with a new inborn error in the pentose phosphate pathway. Am J Hum Genet. 2001 May;68(5):1086-92. doi: 10.1086/320108. Epub 2001 Mar 27.