methylmalonic acidemia due to transcobalamin receptor defect
Information
- Disease name
- methylmalonic acidemia due to transcobalamin receptor defect
- Disease ID
- DOID:0060741
- Description
- "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." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20524213]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:14749
- Cross Reference ID (Disease Ontology)
- ICD10CM:E71.1
- Cross Reference ID (Disease Ontology)
- MIM:613646
- Cross Reference ID (Disease Ontology)
- ORDO:280183
- Exact Synonym (Disease Ontology)
- methylmalonic acidemia, TCblR type
- Exact Synonym (Disease Ontology)
- methylmalonic aciduria due to transcobalamin receptor defect