MCID: MGL016
MIFTS: 25

Megaloblastic Anemia-1, Finnish Type malady

Genetic diseases, Gastrointestinal diseases, Nephrological diseases, Blood diseases, Rare diseases categories
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Summaries for Megaloblastic Anemia-1, Finnish Type

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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 Defective BTD causes biotidinase deficiency 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

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47OMIM, 49Orphanet, 62UMLS, 26ICD10 via Orphanet
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Classifications:



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 62
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

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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
1imerslund-grasbeck syndrome30.5CUBN
2megaloblastic anemia30.3CUBN

Symptoms for Megaloblastic Anemia-1, Finnish Type

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47OMIM
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Symptoms by clinical synopsis from OMIM:

261100

Clinical features from OMIM:

261100

Drugs & Therapeutics for Megaloblastic Anemia-1, Finnish Type

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Megaloblastic Anemia-1, Finnish Type

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

Genetic Tests for Megaloblastic Anemia-1, Finnish Type

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Anatomical Context for Megaloblastic Anemia-1, Finnish Type

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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

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Publications for Megaloblastic Anemia-1, Finnish Type

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Variations for Megaloblastic Anemia-1, Finnish Type

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Megaloblastic Anemia-1, Finnish Type:

64
id Symbol AA change Variation ID SNP ID
1AMNp.Thr41IleVAR_015733rs28939377
2CUBNp.Pro1297LeuVAR_025288rs28939699

Clinvar genetic disease variations for Megaloblastic Anemia-1, Finnish Type:

1
id Gene Name Type Significance SNP ID Assembly Location
1AMNAMN, IVS3, A-G, -2single nucleotide variantPathogenic
2CUBNNM_001081.3(CUBN): c.3890C> T (p.Pro1297Leu)single nucleotide variantLikely pathogenic, Pathogenicrs121434430GRCh37Chr 10, 17083159: 17083159

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

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2BioGPS, 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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50PathCards, 55Reactome, 38NCBI BioSystems Database
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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
Show member pathways
flavin biosynthesis IV (mammalian)38
molybdenum cofactor biosynthesis38
coenzyme A biosynthesis38
thiamin salvage III38
alanine biosynthesis III38
thio-molybdenum cofactor biosynthesis38
biotin-carboxyl carrier protein assembly38
9.1CUBN, AMN
2
Show member pathways
9.1CUBN, AMN

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

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51PharmGKB, 24HMDB, 11DrugBank, 45Novoseek
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Compounds related to Megaloblastic Anemia-1, Finnish Type according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1cyanocobalamin51 24 1111.1CUBN, AMN
2hydroxocobalamin45 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
1apical plasma membraneGO:0163249.1CUBN, AMN
2endocytic vesicleGO:0301399.0CUBN, AMN
3endosome membraneGO:0100088.8CUBN, AMN

Biological processes related to Megaloblastic Anemia-1, Finnish Type according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cobalamin transportGO:0158899.2CUBN, AMN
2cobalamin metabolic processGO:0092359.2CUBN, AMN
3lipoprotein metabolic processGO:0421579.1CUBN, AMN
4vitamin metabolic processGO:0067669.1CUBN, AMN
5receptor-mediated endocytosisGO:0068989.0AMN, CUBN
6water-soluble vitamin metabolic processGO:0067678.8CUBN, AMN

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

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Sources for Megaloblastic Anemia-1, Finnish Type

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet