Methylmalonic Aciduria and Homocystinuria, Cblx Type (MAHCX)

Alias:

Methylmalonic Acidemia with Homocystinuria, Type Cblx

Mental Retardation, X-Linked 3

Combined Defect in Adenosylcobalamin and Methylcobalamin Synthesis, Type Cblx

Methylmalonic Aciduria with Homocystinuria, Type Cblx

Methylmalonic Acidemia and Homocysteinemia Cblx Type

Intellectual Developmental Disorder, X-Linked 3

Mahcx

Xlid3

Mrx3

Methylmalonic Aciduria and Homocysteinemia , Cblx Type

Methylmalonic Acidemia and Homocysteinemia, Cblx Type

Methylmalonic Aciduria and Homocysteinemia, Cblx Type

Mental Retardation, X-Linked, Type 3

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Methylmalonic Aciduria and Homocystinuria, Cblx Type, also known as methylmalonic acidemia with homocystinuria, type cblx, is related to homocystinuria and methylmalonic acidemia. An important gene associated with Methylmalonic Aciduria and Homocystinuria, Cblx Type is HCFC1 (Host Cell Factor C1), and among its related pathways/superpathways are DNA Damage and Chromatin Regulation / Acetylation. Affiliated tissues include brain, and related phenotypes are athetosis and homocystinuria

Related ID：

MALACARDS：MTH089

OMIM：309541

MESH：D038901