MMATC
MCID: MTH068
MIFTS: 18

Methylmalonic Aciduria, Transient, Due to Transcobalamin Receptor Defect (MMATC)

Categories: Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Methylmalonic Aciduria, Transient, Due to Transcobalamin Receptor...

MalaCards integrated aliases for Methylmalonic Aciduria, Transient, Due to Transcobalamin Receptor Defect:

Name: Methylmalonic Aciduria, Transient, Due to Transcobalamin Receptor Defect 57 72
Methylmalonic Aciduria Due to Transcobalamin Receptor Defect 58 72
Methylmalonic Acidemia, Tcblr Type 57 6
Methylmalonic Acidemia, Tcb1r Type 58
Methylmalonic Acidemia, Tcbir Type 58
Methylmalonic Acidemia Tcblr Type 72
Methylmalonic Aciduria Type Tcblr 72
Mmatc 72

Characteristics:

Orphanet epidemiological data:

58
methylmalonic aciduria due to transcobalamin receptor defect
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

HPO:

31
methylmalonic aciduria, transient, due to transcobalamin receptor defect:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

OMIM® 57 613646
MeSH 44 D008661
ICD10 via Orphanet 33 E71.1
Orphanet 58 ORPHA280183
MedGen 41 C3150900
SNOMED-CT via HPO 68 258211005

Summaries for Methylmalonic Aciduria, Transient, Due to Transcobalamin Receptor...

UniProtKB/Swiss-Prot : 72 Methylmalonic aciduria, transient, due to transcobalamin receptor defect: A metabolic disorder characterized by increased blood C3-acylcarnitine levels, elevated methylmalonate and homocysteine, and low uptake of transcobalamin-bound cobalamin, but normal conversion to adenosylcobalamin and methylcobalamin.

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

More information from OMIM: 613646

Related Diseases for Methylmalonic Aciduria, Transient, Due to Transcobalamin Receptor...

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

(showing 1, show less)
# Related Disease Score Top Affiliating Genes
1 methylmalonic acidemia due to transcobalamin receptor defect 11.4

Symptoms & Phenotypes for Methylmalonic Aciduria, Transient, Due to Transcobalamin Receptor...

Human phenotypes related to Methylmalonic Aciduria, Transient, Due to Transcobalamin Receptor Defect:

31 (showing 1, show less)
# Description HPO Frequency HPO Source Accession
1 methylmalonic aciduria 31 HP:0012120

Clinical features from OMIM®:

613646 (Updated 20-May-2021)

Drugs & Therapeutics for Methylmalonic Aciduria, Transient, Due to Transcobalamin Receptor...

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

Genetic Tests for Methylmalonic Aciduria, Transient, Due to Transcobalamin Receptor...

Anatomical Context for Methylmalonic Aciduria, Transient, Due to Transcobalamin Receptor...

Publications for Methylmalonic Aciduria, Transient, Due to Transcobalamin Receptor...

Articles related to Methylmalonic Aciduria, Transient, Due to Transcobalamin Receptor Defect:

(showing 2, show less)
# Title Authors PMID Year
1
Bilateral central retinal artery occlusions in an infant with hyperhomocysteinemia. 57 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 57
20524213 2010

Variations for Methylmalonic Aciduria, Transient, Due to Transcobalamin Receptor...

ClinVar genetic disease variations for Methylmalonic Aciduria, Transient, Due to Transcobalamin Receptor Defect:

6 (showing 26, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CD320 NM_016579.4(CD320):c.719_720del (p.Ala240fs) Deletion Pathogenic 1033828 GRCh37: 19:8367476-8367477
GRCh38: 19:8302592-8302593
2 CD320 NM_016579.4(CD320):c.256_258GAG[2] (p.Glu88del) Microsatellite Conflicting interpretations of pathogenicity 203643 rs150384171 GRCh37: 19:8369919-8369921
GRCh38: 19:8305035-8305037
3 CD320 NM_016579.4(CD320):c.334G>A (p.Gly112Ser) SNV Uncertain significance 848693 GRCh37: 19:8368907-8368907
GRCh38: 19:8304023-8304023
4 CD320 NM_016579.4(CD320):c.212C>G (p.Thr71Ser) SNV Uncertain significance 857328 GRCh37: 19:8369971-8369971
GRCh38: 19:8305087-8305087
5 CD320 NM_016579.4(CD320):c.760C>A (p.Arg254=) SNV Uncertain significance 851092 GRCh37: 19:8367436-8367436
GRCh38: 19:8302552-8302552
6 CD320 NC_000019.10:g.(?_8302443)_(8308310_?)dup Duplication Uncertain significance 832775 GRCh37: 19:8367327-8373194
GRCh38:
7 CD320 NM_016579.4(CD320):c.60_62GCT[7] (p.Leu24_Leu25dup) Microsatellite Uncertain significance 566320 rs750768529 GRCh37: 19:8373100-8373101
GRCh38: 19:8308216-8308217
8 CD320 NM_016579.4(CD320):c.11G>C (p.Gly4Ala) SNV Uncertain significance 566210 rs2232774 GRCh37: 19:8373164-8373164
GRCh38: 19:8308280-8308280
9 CD320 NM_016579.4(CD320):c.478G>A (p.Asp160Asn) SNV Uncertain significance 664765 rs188158114 GRCh37: 19:8368763-8368763
GRCh38: 19:8303879-8303879
10 CD320 NM_016579.4(CD320):c.404G>T (p.Gly135Val) SNV Uncertain significance 841109 GRCh37: 19:8368837-8368837
GRCh38: 19:8303953-8303953
11 CD320 NM_016579.4(CD320):c.708G>A (p.Ala236=) SNV Uncertain significance 938841 GRCh37: 19:8367488-8367488
GRCh38: 19:8302604-8302604
12 CD320 NM_016579.4(CD320):c.412C>A (p.Arg138Ser) SNV Uncertain significance 1054168 GRCh37: 19:8368829-8368829
GRCh38: 19:8303945-8303945
13 CD320 NM_016579.4(CD320):c.634G>T (p.Gly212Trp) SNV Uncertain significance 1055816 GRCh37: 19:8367733-8367733
GRCh38: 19:8302849-8302849
14 CD320 NM_016579.4(CD320):c.88G>C (p.Gly30Arg) SNV Uncertain significance 1060439 GRCh37: 19:8373087-8373087
GRCh38: 19:8308203-8308203
15 CD320 NM_016579.4(CD320):c.760C>T (p.Arg254Ter) SNV Uncertain significance 1063339 GRCh37: 19:8367436-8367436
GRCh38: 19:8302552-8302552
16 CD320 NM_016579.4(CD320):c.497G>T (p.Gly166Val) SNV Uncertain significance 648543 rs769438880 GRCh37: 19:8368744-8368744
GRCh38: 19:8303860-8303860
17 CD320 NM_016579.4(CD320):c.35G>T (p.Trp12Leu) SNV Uncertain significance 659247 rs763898394 GRCh37: 19:8373140-8373140
GRCh38: 19:8308256-8308256
18 CD320 NM_016579.4(CD320):c.41C>T (p.Thr14Ile) SNV Uncertain significance 659573 rs374551944 GRCh37: 19:8373134-8373134
GRCh38: 19:8308250-8308250
19 CD320 NM_016579.4(CD320):c.202G>A (p.Val68Met) SNV Uncertain significance 661454 rs748020753 GRCh37: 19:8369981-8369981
GRCh38: 19:8305097-8305097
20 CD320 NM_016579.4(CD320):c.451C>T (p.Arg151Cys) SNV Uncertain significance 1018004 GRCh37: 19:8368790-8368790
GRCh38: 19:8303906-8303906
21 CD320 NM_016579.4(CD320):c.305C>T (p.Pro102Leu) SNV Uncertain significance 1024024 GRCh37: 19:8368936-8368936
GRCh38: 19:8304052-8304052
22 CD320 NM_016579.4(CD320):c.522G>A (p.Pro174=) SNV Likely benign 793191 rs79658260 GRCh37: 19:8367845-8367845
GRCh38: 19:8302961-8302961
23 CD320 NM_016579.4(CD320):c.745C>T (p.Leu249Phe) SNV Likely benign 745479 rs115054912 GRCh37: 19:8367451-8367451
GRCh38: 19:8302567-8302567
24 CD320 NM_016579.4(CD320):c.769G>A (p.Glu257Lys) SNV Benign 382056 rs2232786 GRCh37: 19:8367427-8367427
GRCh38: 19:8302543-8302543
25 CD320 NM_016579.4(CD320):c.522G>T (p.Pro174=) SNV Benign 377632 rs79658260 GRCh37: 19:8367845-8367845
GRCh38: 19:8302961-8302961
26 CD320 NM_016579.4(CD320):c.11G>A (p.Gly4Asp) SNV Benign 770805 rs2232774 GRCh37: 19:8373164-8373164
GRCh38: 19:8308280-8308280

Expression for Methylmalonic Aciduria, Transient, Due to Transcobalamin Receptor...

Search GEO for disease gene expression data for Methylmalonic Aciduria, Transient, Due to Transcobalamin Receptor Defect.

Pathways for Methylmalonic Aciduria, Transient, Due to Transcobalamin Receptor...

GO Terms for Methylmalonic Aciduria, Transient, Due to Transcobalamin Receptor...

Sources for Methylmalonic Aciduria, Transient, Due to Transcobalamin Receptor...

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
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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