Log In|Sign Up
ENMethylmalonic Aciduria and Homocystinuria, Cblj Type (MAHCJ)
Alias:
Methylmalonic Acidemia with Homocystinuria, Type Cblj
Mahcj
Combined Defect in Adenosylcobalamin and Methylcobalamin Synthesis, Type Cblj
Aciduria, Methylmalonic, and Homocystinuria, Cblj Type
Methylmalonic Aciduria with Homocystinuria, Type Cblj
Methylmalonic Aciduria and Homocystinuria Type Cblj
Cobalamin J Defect
Cblj Defects
Favorite
Methylmalonic Aciduria and Homocystinuria, Cblj Type, also known as methylmalonic acidemia with homocystinuria, type cblj, is related to methylmalonic aciduria and homocystinuria, cblf type and methylmalonic aciduria and homocystinuria, cbld type, and has symptoms including lethargy An important gene associated with Methylmalonic Aciduria and Homocystinuria, Cblj Type is ABCD4 (ATP Binding Cassette Subfamily D Member 4). Affiliated tissues include bone marrow and bone, and related phenotypes are decreased methylcobalamin and decreased methionine synthase activity
Related ID：
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
Gene & Mutation
#
Gene
Function
Score
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
References Literature
Title
PMID
Journal
Year
IF
