OnlineIMD
Methylmalonic aciduria and homocystinuria, cblC type
(CblC disease)
Type
Disease
External link(s)
Orphanet
IEMbase
Gene
MMACHC
/ Methylmalonic Aciduria CblC Type Protein
1p34.1
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Methylmalonic aciduria type C protein, mitochondrial
Disease group(s)
21.9.2 Disorders of intracellular cobalamin metabolism
Child entries
CcblC epimutation variant
Methylmalonic aciduria and homocystinuria, cblX type
ZNF143 deficiency
Ronin deficiency