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methylmalonic acidemia due to transcobalamin receptor defect (DOID:0060741)
Alliance: disease page
Synonyms: methylmalonic acidemia, TCb1R type; methylmalonic acidemia, TCbIR type; methylmalonic aciduria due to transcobalamin receptor defect
Alt IDs: OMIM:613646, ICD10CM:E71.1, ORDO:280183
Definition: A methylmalonic acidemia characterized by autosomal recessive inheritance of low uptake of transcobalamin-bound cobalamin, but normal conversion to adenosylcobalamin and methylcobalamin and that has_material_basis_in mutation in the CD320 gene.

Disease References using Mouse Models (1)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/07/2017
MGI 6.11
The Jackson Laboratory