MCID: MTH021
MIFTS: 25

Methylmalonic Acidemia with Homocystinuria malady

Summaries for Methylmalonic Acidemia with Homocystinuria

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32MalaCards
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MalaCards: Methylmalonic Acidemia with Homocystinuria, also known as cobalamin-c methylmalonic acidemia and homocystinuria, is related to methylmalonic acidemia and homocystinuria. An important gene associated with Methylmalonic Acidemia with Homocystinuria is TCN2 (transcobalamin II), and among its related pathways are Metabolism of vitamins and cofactors and One Carbon Metabolism. The compounds corrinoid and adenosylcobalamin have been mentioned in the context of this disorder.

Aliases & Classifications for Methylmalonic Acidemia with Homocystinuria

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42NIH Rare Diseases, 22GTR
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Aliases & Descriptions:

methylmalonic acidemia with homocystinuria 42 22
cobalamin-c methylmalonic acidemia and homocystinuria 42
methylmalonic acidemia and homocystinuria cblc type 42
methylmalonic acidemia and homocystinemia 42


Related Diseases for Methylmalonic Acidemia with Homocystinuria

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Methylmalonic Acidemia with Homocystinuria:



Diseases related to methylmalonic acidemia with homocystinuria

Clinical Features for Methylmalonic Acidemia with Homocystinuria

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Drugs & Therapeutics for Methylmalonic Acidemia with Homocystinuria

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Methylmalonic Acidemia with Homocystinuria

Drug clinical trials:

Search ClinicalTrials for Methylmalonic Acidemia with Homocystinuria

Search NIH Clinical Center for Methylmalonic Acidemia with Homocystinuria

Search CenterWatch for Methylmalonic Acidemia with Homocystinuria

Genetic Tests for Methylmalonic Acidemia with Homocystinuria

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22GTR
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Genetic tests related to Methylmalonic Acidemia with Homocystinuria:

id Genetic test Affiliating Genes
1 Methylmalonic Acidemia with Homocystinuria22

Anatomical Context for Methylmalonic Acidemia with Homocystinuria

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Animal Models for Methylmalonic Acidemia with Homocystinuria or affiliated genes

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Publications for Methylmalonic Acidemia with Homocystinuria

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Genetic Variations for Methylmalonic Acidemia with Homocystinuria

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Expression for genes affiliated with Methylmalonic Acidemia with Homocystinuria

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Methylmalonic Acidemia with Homocystinuria

Search GEO for disease gene expression data for Methylmalonic Acidemia with Homocystinuria.

Pathways for genes affiliated with Methylmalonic Acidemia with Homocystinuria

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53Reactome, 37NCBI BioSystems Database, 29KEGG
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Pathways related to Methylmalonic Acidemia with Homocystinuria according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
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9.1TCN2, MTR
2
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9.1TCN2, MTR
39.1TCN2, MTR

Compounds for genes affiliated with Methylmalonic Acidemia with Homocystinuria

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44Novoseek, 24HMDB, 49PharmGKB, 11DrugBank
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Compounds related to Methylmalonic Acidemia with Homocystinuria according to GeneCards/GeneDecks:

(show all 15)
idCompoundScoreTop Affiliating Genes
1corrinoid449.4TCN2, MTR
2adenosylcobalamin44 2410.4TCN2, MTR
3methylcobalamin44 2410.4TCN2, MTR
4cyanocobalamin49 11 2411.4MTR, TCN2
5hydroxocobalamin44 1110.4MTR, TCN2
6cystathionine449.4TCN2, MTR
7methylmalonic acid44 2410.3TCN2, MTR
8cobalamin44 2410.3MTR, TCN2
9vitamin b6449.3TCN2, MTR
10cobalt44 2410.2TCN2, MTR
11vitamin b12449.2TCN2, MTR
12homocysteine44 2410.1MTR, TCN2
13creatinine449.1TCN2, MTR
14folate449.0TCN2, MTR
15methionine448.8TCN2, MTR

GO Terms for genes affiliated with Methylmalonic Acidemia with Homocystinuria

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16Gene Ontology
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Biological processes related to Methylmalonic Acidemia with Homocystinuria according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1vitamin metabolic processGO:0067669.1TCN2, MTR
2cobalamin metabolic processGO:0092359.0TCN2, MTR
3water-soluble vitamin metabolic processGO:0067678.8TCN2, MTR

Molecular functions related to Methylmalonic Acidemia with Homocystinuria according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cobalamin bindingGO:0314199.1TCN2, MTR

Products for genes affiliated with Methylmalonic Acidemia with Homocystinuria

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Methylmalonic Acidemia with Homocystinuria

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet