MCID: MTH069
MIFTS: 11

Methylmalonic Acidemia Due to Transcobalamin Receptor Defect

Categories: Blood diseases, Endocrine diseases, Genetic diseases, Liver diseases, Metabolic diseases, Rare 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 30 13 6
Aciduria, Methylmalonic, Due to Transcobalamin Receptor Defect 41
Methylmalonic Acidemia, Tcblr Type 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0060741
ICD10 34 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). Affiliated tissues include liver.

Related Diseases for Methylmalonic Acidemia Due to Transcobalamin Receptor Defect

Diseases in the Methylmalonic Acidemia family:

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 11.7

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 30 CD320

Anatomical Context for Methylmalonic Acidemia Due to Transcobalamin Receptor Defect

MalaCards organs/tissues related to Methylmalonic Acidemia Due to Transcobalamin Receptor Defect:

42
Liver

Publications for Methylmalonic Acidemia Due to Transcobalamin Receptor Defect

Variations for Methylmalonic Acidemia Due to Transcobalamin Receptor Defect

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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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