MCID: MTH069
MIFTS: 14

Methylmalonic Acidemia Due to Transcobalamin Receptor Defect

Categories: Genetic 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 29 6
Aciduria, Methylmalonic, Due to Transcobalamin Receptor Defect 39
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. 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 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 11.6

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

Articles related to Methylmalonic Acidemia Due to Transcobalamin Receptor Defect:

# Title Authors PMID Year
1
Bilateral central retinal artery occlusions in an infant with hyperhomocysteinemia. 6
22819238 2012
2
Positive newborn screen for methylmalonic aciduria identifies the first mutation in TCblR/CD320, the gene for cellular uptake of transcobalamin-bound vitamin B(12). 6
20524213 2010

Variations for Methylmalonic Acidemia Due to Transcobalamin Receptor Defect

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

6 (show all 19)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CD320 NM_016579.4(CD320):c.256_258GAG[2] (p.Glu88del) Microsatellite Conflicting interpretations of pathogenicity 203643 rs150384171 19:8369919-8369921 19:8305035-8305037
2 CD320 NM_016579.4(CD320):c.35G>T (p.Trp12Leu) SNV Uncertain significance 659247 rs763898394 19:8373140-8373140 19:8308256-8308256
3 CD320 NM_016579.4(CD320):c.41C>T (p.Thr14Ile) SNV Uncertain significance 659573 rs374551944 19:8373134-8373134 19:8308250-8308250
4 CD320 NM_016579.4(CD320):c.708G>A (p.Ala236=) SNV Uncertain significance 938841 19:8367488-8367488 19:8302604-8302604
5 CD320 NM_016579.4(CD320):c.11G>C (p.Gly4Ala) SNV Uncertain significance 566210 rs2232774 19:8373164-8373164 19:8308280-8308280
6 CD320 NM_016579.4(CD320):c.60_62GCT[7] (p.Leu24_Leu25dup) Microsatellite Uncertain significance 566320 rs750768529 19:8373100-8373101 19:8308216-8308217
7 CD320 NC_000019.10:g.(?_8302443)_(8308310_?)dup Duplication Uncertain significance 832775 19:8367327-8373194
8 CD320 NM_016579.4(CD320):c.404G>T (p.Gly135Val) SNV Uncertain significance 841109 19:8368837-8368837 19:8303953-8303953
9 CD320 NM_016579.4(CD320):c.334G>A (p.Gly112Ser) SNV Uncertain significance 848693 19:8368907-8368907 19:8304023-8304023
10 CD320 NM_016579.4(CD320):c.760C>A (p.Arg254=) SNV Uncertain significance 851092 19:8367436-8367436 19:8302552-8302552
11 CD320 NM_016579.4(CD320):c.212C>G (p.Thr71Ser) SNV Uncertain significance 857328 19:8369971-8369971 19:8305087-8305087
12 CD320 NM_016579.4(CD320):c.497G>T (p.Gly166Val) SNV Uncertain significance 648543 rs769438880 19:8368744-8368744 19:8303860-8303860
13 CD320 NM_016579.4(CD320):c.202G>A (p.Val68Met) SNV Uncertain significance 661454 rs748020753 19:8369981-8369981 19:8305097-8305097
14 CD320 NM_016579.4(CD320):c.478G>A (p.Asp160Asn) SNV Uncertain significance 664765 rs188158114 19:8368763-8368763 19:8303879-8303879
15 CD320 NM_016579.4(CD320):c.745C>T (p.Leu249Phe) SNV Likely benign 745479 rs115054912 19:8367451-8367451 19:8302567-8302567
16 CD320 NM_016579.4(CD320):c.522G>A (p.Pro174=) SNV Likely benign 793191 rs79658260 19:8367845-8367845 19:8302961-8302961
17 CD320 NM_016579.4(CD320):c.522G>T (p.Pro174=) SNV Benign 377632 rs79658260 19:8367845-8367845 19:8302961-8302961
18 CD320 NM_016579.4(CD320):c.769G>A (p.Glu257Lys) SNV Benign 382056 rs2232786 19:8367427-8367427 19:8302543-8302543
19 CD320 NM_016579.4(CD320):c.11G>A (p.Gly4Asp) SNV Benign 770805 rs2232774 19:8373164-8373164 19:8308280-8308280

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
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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44 MeSH
45 MESH via Orphanet
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50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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