MCID: MGL018
MIFTS: 16

Megaloblastic Anemia 1 malady

Metabolic category

Summaries for Megaloblastic Anemia 1

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33MalaCards
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MalaCards: Megaloblastic Anemia 1, also known as megaloblastic anemia due to inborn errors of metabolism, is related to imerslund-grasbeck syndrome and megaloblastic anemia. An important gene associated with Megaloblastic Anemia 1 is CUBN (cubilin (intrinsic factor-cobalamin receptor)), and among its related pathways are Metabolism of vitamins and cofactors and Lipoprotein metabolism. The compounds cyanocobalamin and hydroxocobalamin have been mentioned in the context of this disorder.

Aliases & Classifications for Megaloblastic Anemia 1

Sources:
20GeneTests, 61UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Metabolic


Aliases & Descriptions:

megaloblastic anemia 1 20
megaloblastic anemia due to inborn errors of metabolism 61
3-@methylglutaconic aciduria, type i 61


Related Diseases for Megaloblastic Anemia 1

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Megaloblastic Anemia 1 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1imerslund-grasbeck syndrome30.8CUBN
2megaloblastic anemia30.4CUBN
33 methylglutaconic aciduria type i10.6
4intrinsic factor deficiency10.5
5megaloblastic anemia-1, finnish type10.5
6megaloblastic anemia-1, norwegian type10.5
7barth syndrome10.4
83-methylglutaconic aciduria10.4

Graphical network of diseases related to Megaloblastic Anemia 1:



Diseases related to megaloblastic anemia 1

Clinical Features for Megaloblastic Anemia 1

Drugs & Therapeutics for Megaloblastic Anemia 1

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Megaloblastic Anemia 1

Drug clinical trials:

Search ClinicalTrials for Megaloblastic Anemia 1

Search NIH Clinical Center for Megaloblastic Anemia 1

Search CenterWatch for Megaloblastic Anemia 1

Genetic Tests for Megaloblastic Anemia 1

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20GeneTests
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Genetic tests related to Megaloblastic Anemia 1:

id Genetic test Affiliating Genes
1 Megaloblastic Anemia 120 CUBN

Anatomical Context for Megaloblastic Anemia 1

Animal Models for Megaloblastic Anemia 1 or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Megaloblastic Anemia 1

Sources:
51PubMed
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Articles related to Megaloblastic Anemia 1:

idTitleAuthorsYear
1
Localization of the thiamine-responsive megaloblastic anemia syndrome locus to a 1.4-cM region of 1q23. (10066388)
1999

Genetic Variations for Megaloblastic Anemia 1

Expression for genes affiliated with Megaloblastic Anemia 1

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Megaloblastic Anemia 1

Search GEO for disease gene expression data for Megaloblastic Anemia 1.

Pathways for genes affiliated with Megaloblastic Anemia 1

Sources:
54Reactome
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Pathways related to Megaloblastic Anemia 1 according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.1CUBN, AMN
2
Hide members
9.1CUBN, AMN
39.1CUBN, AMN

Compounds for genes affiliated with Megaloblastic Anemia 1

Sources:
50PharmGKB, 11DrugBank, 24HMDB, 45Novoseek
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Compounds related to Megaloblastic Anemia 1 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1cyanocobalamin50 11 2411.1CUBN, AMN
2hydroxocobalamin45 119.8CUBN, AMN

GO Terms for genes affiliated with Megaloblastic Anemia 1

Sources:
16Gene Ontology
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Cellular components related to Megaloblastic Anemia 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endosome membraneGO:0100089.1CUBN, AMN

Biological processes related to Megaloblastic Anemia 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cobalamin metabolic processGO:0092359.2CUBN, AMN
2lipoprotein metabolic processGO:0421579.1CUBN, AMN
3small molecule metabolic processGO:0442819.1CUBN, AMN
4water-soluble vitamin metabolic processGO:0067679.0AMN, CUBN
5vitamin metabolic processGO:0067668.8CUBN, AMN

Products for genes affiliated with Megaloblastic Anemia 1

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Megaloblastic Anemia 1

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet