MCID: MTH069
MIFTS: 8

Methylmalonic Acidemia Due to Transcobalamin Receptor Defect

Categories: Metabolic diseases

Aliases & Classifications for Methylmalonic Acidemia Due to Transcobalamin Receptor Defect

MalaCards integrated aliases for Methylmalonic Acidemia Due to Transcobalamin Receptor Defect:

Name: Methylmalonic Acidemia Due to Transcobalamin Receptor Defect 12
Methylmalonic Aciduria Due to Transcobalamin Receptor Defect 12 29 13 6
Aciduria, Methylmalonic, Due to Transcobalamin Receptor Defect 40
Methylmalonic Acidemia, Tcb1r Type 12
Methylmalonic Acidemia, Tcbir Type 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0060741
ICD10 33 E71.1

Summaries for Methylmalonic Acidemia Due to Transcobalamin Receptor Defect

Disease Ontology : 12 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.

MalaCards based summary : Methylmalonic Acidemia Due to Transcobalamin Receptor Defect, also known as methylmalonic aciduria due to transcobalamin receptor defect, is related to methylmalonic aciduria, transient, due to transcobalamin receptor defect. An important gene associated with Methylmalonic Acidemia Due to Transcobalamin Receptor Defect is CD320 (CD320 Molecule).

Related Diseases for Methylmalonic Acidemia Due to Transcobalamin Receptor Defect

Diseases related to Methylmalonic Acidemia Due to Transcobalamin Receptor Defect via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 methylmalonic aciduria, transient, due to transcobalamin receptor defect 11.3

Symptoms & Phenotypes for Methylmalonic Acidemia Due to Transcobalamin Receptor Defect

Drugs & Therapeutics for Methylmalonic Acidemia Due to Transcobalamin Receptor Defect

Search Clinical Trials , NIH Clinical Center for Methylmalonic Acidemia Due to Transcobalamin Receptor Defect

Genetic Tests for Methylmalonic Acidemia Due to Transcobalamin Receptor Defect

Genetic tests related to Methylmalonic Acidemia Due to Transcobalamin Receptor Defect:

# Genetic test Affiliating Genes
1 Methylmalonic Aciduria Due to Transcobalamin Receptor Defect 29 CD320

Anatomical Context for Methylmalonic Acidemia Due to Transcobalamin Receptor Defect

Publications for Methylmalonic Acidemia Due to Transcobalamin Receptor Defect

Variations for Methylmalonic Acidemia Due to Transcobalamin Receptor Defect

ClinVar genetic disease variations for Methylmalonic Acidemia Due to Transcobalamin Receptor Defect:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CD320 NM_016579.3(CD320): c.262_264delGAG (p.Glu88del) deletion Conflicting interpretations of pathogenicity, other rs150384171 GRCh38 Chromosome 19, 8305035: 8305037
2 CD320 NM_016579.3(CD320): c.262_264delGAG (p.Glu88del) deletion Conflicting interpretations of pathogenicity, other rs150384171 GRCh37 Chromosome 19, 8369919: 8369921

Expression for Methylmalonic Acidemia Due to Transcobalamin Receptor Defect

Search GEO for disease gene expression data for Methylmalonic Acidemia Due to Transcobalamin Receptor Defect.

Pathways for Methylmalonic Acidemia Due to Transcobalamin Receptor Defect

GO Terms for Methylmalonic Acidemia Due to Transcobalamin Receptor Defect

Sources for Methylmalonic Acidemia Due to Transcobalamin Receptor Defect

3 CDC
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10 dbSNP
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17 ExPASy
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74 UMLS via Orphanet
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