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.