MCID: MTH068
MIFTS: 14

Methylmalonic Aciduria, Transient, Due to Transcobalamin Receptor Defect

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 75
Methylmalonic Aciduria Due to Transcobalamin Receptor Defect 59 75
Methylmalonic Acidemia, Tcblr Type 57
Methylmalonic Acidemia, Tcb1r Type 59
Methylmalonic Acidemia, Tcbir Type 59
Methylmalonic Acidemia Tcblr Type 75
Methylmalonic Aciduria Type Tcblr 75
Mmatc 75

Characteristics:

Orphanet epidemiological data:

59
methylmalonic aciduria due to transcobalamin receptor defect
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

HPO:

32
methylmalonic aciduria, transient, due to transcobalamin receptor defect:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Inborn errors of metabolism


External Ids:

OMIM 57 613646
Orphanet 59 ORPHA280183
ICD10 via Orphanet 34 E71.1
MedGen 42 C3150900
MeSH 44 D008661
SNOMED-CT via HPO 69 258211005

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

UniProtKB/Swiss-Prot : 75 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.

Description 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:

# Related Disease Score Top Affiliating Genes
1 methylmalonic acidemia due to transcobalamin receptor defect 11.8

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

Clinical features from OMIM:

613646

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

32
# Description HPO Frequency HPO Source Accession
1 methylmalonic aciduria 32 HP:0012120

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...

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

ClinVar genetic disease variations for Methylmalonic Aciduria, Transient, 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 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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