MCID: MTH069
MIFTS: 7

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
Methylmalonic Acidemia, Tcblr Type 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0060741
ICD10 32 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.

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 11.8

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

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

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
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....