Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0019214 (
hepatosplenomegaly
)
4,408
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Transaldolase deficiency is a newly recognized metabolic disorder. It is an autosomal recessive genetic disease (OMIM #606003). The effects of the defect in the
TALDO
gene are pleiotropic with a clinical presentation of growth retardation, dysmorphic features, cutis laxa, congenital heart disease,
hepatosplenomegaly
, pancytopenia, and bleeding tendencies. This is the first report of a child who was diagnosed at birth with transaldolase deficiency who subsequently developed hepatopulmonary syndrome.
...
PMID:Pulmonary manifestations in a patient with transaldolase deficiency. 2384 9
