MCID: MGL016
MIFTS: 21

Megaloblastic Anemia-1, Finnish Type malady

Gastrointestinal, Nephrological, Metabolic, Blood, Genetic categories

Summaries for Megaloblastic Anemia-1, Finnish Type

Sources:
47OMIM, 33MalaCards
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MalaCards: Megaloblastic Anemia-1, Finnish Type, 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, 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:47 261100

Aliases & Classifications for Megaloblastic Anemia-1, Finnish Type

Sources:
47OMIM, 49Orphanet, 61UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic
Anatomical: Gastrointestinal, Nephrological, Metabolic, Blood


Characteristics (Orphanet epidemiological data):

49
selective cobalamin malabsorption with proteinuria:
Inheritance: Autosomal recessive; Age of onset: Childhood


Aliases & Descriptions:

megaloblastic anemia-1, finnish type 47
megaloblastic anemia due to inborn errors of metabolism 61
selective cobalamin malabsorption with proteinuria 49
familial megaloblastic anemia 49
gräsbeck-imerslund disease 49


External Ids:

OMIM47 261100
ICD10 via Orphanet26 D51.1

Related Diseases for Megaloblastic Anemia-1, Finnish Type

Sources:
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
1imerslund-grasbeck syndrome30.5CUBN
2megaloblastic anemia30.2CUBN
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

Sources:
47OMIM
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Clinical features from OMIM:

261100

Clinical synopsis from OMIM:

261100

Drugs & Therapeutics for Megaloblastic Anemia-1, Finnish Type

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

Search CenterWatch for Megaloblastic Anemia-1, Finnish Type

Drug clinical trials:

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Search NIH Clinical Center for Megaloblastic Anemia-1, Finnish Type

Search CenterWatch for Megaloblastic Anemia-1, Finnish Type

Genetic Tests for Megaloblastic Anemia-1, Finnish Type

Anatomical Context for Megaloblastic Anemia-1, Finnish Type

Sources:
33MalaCards
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MalaCards organs/tissues related to Megaloblastic Anemia-1, Finnish Type:

33
Thyroid

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

Sources:
28inGenious Targeting Laboratory
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Publications for Megaloblastic Anemia-1, Finnish Type

Genetic Variations for Megaloblastic Anemia-1, Finnish Type

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Megaloblastic Anemia-1, Finnish Type:

63
id Symbol AA change Variation SNP ID
1AMNp.Thr41IleVAR_015733rs28939377
2CUBNp.Pro1297LeuVAR_025288rs28939699

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

Sources:
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

Sources:
54Reactome
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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

Sources:
50PharmGKB, 11DrugBank, 24HMDB, 45Novoseek
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Compounds related to Megaloblastic Anemia-1, Finnish Type 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, Finnish Type

Sources:
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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Megaloblastic Anemia-1, Finnish Type

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