MCID: MGL016
MIFTS: 25

Megaloblastic Anemia-1, Finnish Type malady

Genetic diseases, Gastrointestinal diseases, Nephrological diseases, Blood diseases, Rare diseases categories

Summaries for Megaloblastic Anemia-1, Finnish Type

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48OMIM, 34MalaCards
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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:48 261100

Aliases & Classifications for Megaloblastic Anemia-1, Finnish Type

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48OMIM, 50Orphanet, 63UMLS, 27ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
selective cobalamin malabsorption with proteinuria:
Inheritance: Autosomal recessive; Age of onset: Childhood


Aliases & Descriptions:

megaloblastic anemia-1, finnish type 48
megaloblastic anemia due to inborn errors of metabolism 63
selective cobalamin malabsorption with proteinuria 50
familial megaloblastic anemia 50
grƤsbeck-imerslund disease 50


External Ids:

OMIM48 261100
ICD10 via Orphanet27 D51.1

Related Diseases for Megaloblastic Anemia-1, Finnish Type

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18GeneCards, 19GeneDecks
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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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48OMIM
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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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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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34MalaCards
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MalaCards organs/tissues related to Megaloblastic Anemia-1, Finnish Type:

34
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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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Megaloblastic Anemia-1, Finnish Type:

65
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, 16Gene 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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51PathCards, 56Reactome, 39NCBI 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)39
molybdenum cofactor biosynthesis39
coenzyme A biosynthesis39
thiamin salvage III39
alanine biosynthesis III39
thio-molybdenum cofactor biosynthesis39
biotin-carboxyl carrier protein assembly39
9.1CUBN, AMN
2
Show member pathways
9.1CUBN, AMN

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

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52PharmGKB, 25HMDB, 12DrugBank, 46Novoseek
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Compounds related to Megaloblastic Anemia-1, Finnish Type according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1cyanocobalamin52 25 1211.1CUBN, AMN
2hydroxocobalamin46 129.8CUBN, AMN

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

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17Gene 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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet