Visualize
Metadata
DOID DOID:0050884
Name triosephosphate isomerase deficiency
Definition A glucose metabolism disorder that is characterized by chronic haemolytic anaemia, cardiomyopathy, susceptibility to infections and severe neurological dysfunction, and has_material_basis_in the triosephosphate isomerase enzyme (TPI1) gene inherited as an autosomal recessive trait.
http://en.wikipedia.org/wiki/Triosephosphate_isomerase_deficiency, http://omim.org/entry/615512, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=868, http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1183/printFullReport, https://www.ncbi.nlm.nih.gov/pubmed/16980388, https://www.ncbi.nlm.nih.gov/pubmed/17424909, https://www.ncbi.nlm.nih.gov/pubmed/23318931
Xrefs

GARD:5287

OMIM:615512

Subsets

DO_FlyBase_slim

Synonyms

Triose phosphate-isomerase deficiency [EXACT]

Relationships

is_a glucose metabolism disease

Add an item to the term tracker