MCID: MGL016
MIFTS: 28

Megaloblastic Anemia-1, Finnish Type malady

Gastrointestinal diseases, Nephrological diseases, Metabolic diseases, Blood diseases, Genetic diseases categories

Summaries for Megaloblastic Anemia-1, Finnish Type

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46OMIM, 32MalaCards
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MalaCards: Megaloblastic Anemia-1, Finnish Type, also known as megaloblastic anemia due to inborn errors of metabolism, is related to megaloblastic anemia and imerslund-grasbeck syndrome. An important gene associated with Megaloblastic Anemia-1, Finnish Type 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. Affiliated tissues include thyroid.

Description from OMIM:46 261100

Aliases & Classifications for Megaloblastic Anemia-1, Finnish Type

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48Orphanet, 46OMIM, 60UMLS, 26ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
selective cobalamin malabsorption with proteinuria:
Inheritance: Autosomal recessive; Age of onset: Childhood


Aliases & Descriptions:

megaloblastic anemia-1, finnish type 46
megaloblastic anemia due to inborn errors of metabolism 60
selective cobalamin malabsorption with proteinuria 48
familial megaloblastic anemia 48
gräsbeck-imerslund disease 48


External Ids:

OMIM46 261100
ICD10 via Orphanet26 D51.1

Related Diseases for Megaloblastic Anemia-1, Finnish Type

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

idRelated DiseaseScoreTop Affiliating Genes
1megaloblastic anemia30.2CUBN
2imerslund-grasbeck syndrome30.2CUBN
3intrinsic factor deficiency10.5
4megaloblastic anemia 110.5
5megaloblastic anemia-1, norwegian type10.5

Graphical network of diseases related to Megaloblastic Anemia-1, Finnish Type:



Diseases related to megaloblastic anemia-1, finnish type

Clinical Features for Megaloblastic Anemia-1, Finnish Type

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46OMIM
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Clinical features from OMIM:

261100

Clinical synopsis from OMIM:

261100

Drugs & Therapeutics for Megaloblastic Anemia-1, Finnish Type

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

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Drug clinical trials:

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Genetic Tests for Megaloblastic Anemia-1, Finnish Type

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Anatomical Context for Megaloblastic Anemia-1, Finnish Type

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32MalaCards
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MalaCards organs/tissues related to Megaloblastic Anemia-1, Finnish Type:

32
Thyroid

Animal Models for Megaloblastic Anemia-1, Finnish Type or affiliated genes

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Publications for Megaloblastic Anemia-1, Finnish Type

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Genetic Variations for Megaloblastic Anemia-1, Finnish Type

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Megaloblastic Anemia-1, Finnish Type:

62
id Symbol AA change Variation ID SNP ID
1AMNp.Thr41IleVAR_015733rs28939377
2CUBNp.Pro1297LeuVAR_025288rs28939699

Expression for genes affiliated with Megaloblastic Anemia-1, Finnish Type

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Megaloblastic Anemia-1, Finnish Type

Search GEO for disease gene expression data for Megaloblastic Anemia-1, Finnish Type.

Pathways for genes affiliated with Megaloblastic Anemia-1, Finnish Type

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53Reactome
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Pathways related to Megaloblastic Anemia-1, Finnish Type 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, Finnish Type

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49PharmGKB, 11DrugBank, 24HMDB, 44Novoseek
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Compounds related to Megaloblastic Anemia-1, Finnish Type according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1cyanocobalamin49 11 2411.1CUBN, AMN
2hydroxocobalamin44 119.8CUBN, AMN

GO Terms for genes affiliated with Megaloblastic Anemia-1, Finnish Type

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16Gene Ontology
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Cellular components related to Megaloblastic Anemia-1, Finnish Type according to GeneCards/GeneDecks:

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

Biological processes related to Megaloblastic Anemia-1, Finnish Type 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, Finnish Type

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Megaloblastic Anemia-1, Finnish Type

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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