MCID: MGL016
MIFTS: 25

Megaloblastic Anemia-1, Finnish Type malady

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

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MalaCards based summary: Megaloblastic Anemia-1, Finnish Type, also known as selective cobalamin malabsorption with proteinuria, is related to megaloblastic anemia, and has symptoms including 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:46 261100

Aliases & Classifications for Megaloblastic Anemia-1, Finnish Type

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Sources:
46OMIM, 48Orphanet, 62UMLS, 26ICD10 via Orphanet
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Megaloblastic Anemia-1, Finnish Type, Aliases & Descriptions:

Name: Megaloblastic Anemia-1, Finnish Type 46
Selective Cobalamin Malabsorption with Proteinuria 48
Familial Megaloblastic Anaemia 62
 
Familial Megaloblastic Anemia 48
Gräsbeck-Imerslund Disease 48


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

OMIM46 261100
ICD10 via Orphanet26 D51.1

Related Diseases for Megaloblastic Anemia-1, Finnish Type

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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 anemia30.7CUBN

Symptoms for Megaloblastic Anemia-1, Finnish Type

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Symptoms by clinical synopsis from OMIM:

261100

Clinical features from OMIM:

261100

HPO human phenotypes related to Megaloblastic Anemia-1, Finnish Type:

(show all 9)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 proteinuria HP:0000093
3 dementia HP:0000726
4 confusion HP:0001289
5 megaloblastic anemia HP:0001889
6 paresthesia HP:0003401
7 sensory impairment HP:0003474
8 childhood onset HP:0011463
9 malabsorption of vitamin b12 HP:0200118

Drugs & Therapeutics for Megaloblastic Anemia-1, Finnish Type

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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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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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Variations for Megaloblastic Anemia-1, Finnish Type

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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:

6 (show all 50)
id Gene Name Type Significance SNP ID Assembly Location
1AMNAMN, IVS3, A-G, -2single nucleotide variantPathogenic
2CUBNNM_001081.3(CUBN): c.1230+1G> Asingle nucleotide variantLikely pathogenicrs386833766GRCh37Chr 10, 17147455: 17147455
3CUBNNM_001081.3(CUBN): c.1436C> G (p.Ser479Ter)single nucleotide variantLikely pathogenicrs386833767GRCh37Chr 10, 17145218: 17145218
4CUBNNM_001081.3(CUBN): c.1526delG (p.Gly509Glufs)deletionLikely pathogenicrs386833768GRCh37Chr 10, 17145128: 17145128
5CUBNNM_001081.3(CUBN): c.1530G> A (p.Lys510=)single nucleotide variantLikely pathogenicrs386833769GRCh37Chr 10, 17145124: 17145124
6CUBNNM_001081.3(CUBN): c.1838delG (p.Gly613Glufs)deletionLikely pathogenicrs386833770GRCh37Chr 10, 17130272: 17130272
7CUBNNM_001081.3(CUBN): c.1865delC (p.Thr622Ilefs)deletionLikely pathogenicrs386833771GRCh37Chr 10, 17130245: 17130245
8CUBNNM_001081.3(CUBN): c.1951C> T (p.Arg651Ter)single nucleotide variantLikely pathogenicrs182512508GRCh37Chr 10, 17127755: 17127755
9CUBNNM_001081.3(CUBN): c.2068A> G (p.Ile690Val)single nucleotide variantLikely pathogenicrs386833772GRCh37Chr 10, 17127638: 17127638
10CUBNNM_001081.3(CUBN): c.2486C> T (p.Ser829Leu)single nucleotide variantLikely pathogenicrs386833773GRCh37Chr 10, 17113564: 17113564
11CUBNNM_001081.3(CUBN): c.250C> T (p.Gln84Ter)single nucleotide variantLikely pathogenicrs386833774GRCh37Chr 10, 17171122: 17171122
12CUBNNM_001081.3(CUBN): c.2515_2533del19 (p.Glu839Profs)deletionLikely pathogenicrs386833775GRCh37Chr 10, 17113517: 17113535
13CUBNNM_001081.3(CUBN): c.252+1G> Asingle nucleotide variantLikely pathogenicrs386833776GRCh37Chr 10, 17171119: 17171119
14CUBNNM_001081.3(CUBN): c.2614_2615delGA (p.Asp872Leufs)deletionLikely pathogenicrs386833777GRCh37Chr 10, 17113435: 17113436
15CUBNNM_001081.3(CUBN): c.2673C> A (p.Cys891Ter)single nucleotide variantLikely pathogenicrs386833778GRCh37Chr 10, 17110722: 17110722
16CUBNNM_001081.3(CUBN): c.2949C> A (p.Tyr983Ter)single nucleotide variantLikely pathogenicrs386833779GRCh37Chr 10, 17110122: 17110122
17CUBNNM_001081.3(CUBN): c.3056C> G (p.Ser1019Ter)single nucleotide variantLikely pathogenicrs386833780GRCh37Chr 10, 17107590: 17107590
18CUBNNM_001081.3(CUBN): c.3096delT (p.Tyr1032Terfs)deletionLikely pathogenicrs386833781GRCh37Chr 10, 17107550: 17107550
19CUBNNM_001081.3(CUBN): c.3577T> G (p.Trp1193Gly)single nucleotide variantLikely pathogenicrs386833783GRCh37Chr 10, 17087101: 17087101
20CUBNNM_001081.3(CUBN): c.3749C> T (p.Ser1250Phe)single nucleotide variantLikely pathogenicrs386833784GRCh37Chr 10, 17085906: 17085906
21CUBNNM_001081.3(CUBN): c.3999C> A (p.Cys1333Ter)single nucleotide variantLikely pathogenicrs386833785GRCh37Chr 10, 17083050: 17083050
22CUBNNM_001081.3(CUBN): c.4115C> G (p.Thr1372Arg)single nucleotide variantLikely pathogenicrs386833786GRCh37Chr 10, 17061885: 17061885
23CUBNNM_001081.3(CUBN): c.4168G> A (p.Gly1390Ser)single nucleotide variantLikely pathogenicrs386833787GRCh37Chr 10, 17061832: 17061832
24CUBNNM_001081.3(CUBN): c.434G> A (p.Gly145Glu)single nucleotide variantLikely pathogenicrs386833788GRCh37Chr 10, 17165642: 17165642
25CUBNNM_001081.3(CUBN): c.489G> A (p.Lys163=)single nucleotide variantLikely pathogenicrs386833789GRCh37Chr 10, 17165587: 17165587
26CUBNNM_001081.3(CUBN): c.673T> A (p.Cys225Ser)single nucleotide variantLikely pathogenicrs386833790GRCh37Chr 10, 17157517: 17157517
27CUBNNM_001081.3(CUBN): c.889C> T (p.Gln297Ter)single nucleotide variantLikely pathogenicrs386833791GRCh37Chr 10, 17153044: 17153044
28AMNNM_030943.3(AMN): c.1006+16_1006+30deldeletionLikely pathogenicrs386834160GRCh37Chr 14, 103396439: 103396453
29AMNNM_030943.3(AMN): c.1006+34_1006+48deldeletionLikely pathogenicrs386834161GRCh37Chr 14, 103396457: 103396471
30AMNNM_030943.3(AMN): c.1006+36_1006+50deldeletionLikely pathogenicrs386834162GRCh37Chr 14, 103396459: 103396473
31AMNNM_030943.3(AMN): c.1014_1021delCCTCGGCG (p.Leu339Profs)deletionLikely pathogenicrs386834163GRCh37Chr 14, 103396509: 103396516
32AMNNM_030943.3(AMN): c.1170-6C> Tsingle nucleotide variantLikely pathogenicrs386834164GRCh37Chr 14, 103396737: 103396737
33AMNNM_030943.3(AMN): c.1253dupA (p.Leu419Alafs)duplicationLikely pathogenicrs386834165GRCh37Chr 14, 103396826: 103396827
34AMNNM_030943.3(AMN): c.1257+10C> Tsingle nucleotide variantLikely pathogenicrs386834166GRCh37Chr 14, 103396840: 103396840
35AMNNM_030943.3(AMN): c.1314_1315delCA (p.His438Glnfs)deletionLikely pathogenicrs386834167GRCh37Chr 14, 103396969: 103396970
36AMNNM_030943.3(AMN): c.14delG (p.Gly5Alafs)deletionLikely pathogenicrs386834168GRCh37Chr 14, 103389039: 103389039
37AMNNM_030943.3(AMN): c.208-1G> Csingle nucleotide variantLikely pathogenicrs386834169GRCh37Chr 14, 103394762: 103394762
38AMNNM_030943.3(AMN): c.208-2A> Gsingle nucleotide variantLikely pathogenicrs386834170GRCh37Chr 14, 103394761: 103394761
39AMNNM_030943.3(AMN): c.295delG (p.Gly99Alafs)deletionLikely pathogenicrs386834171GRCh37Chr 14, 103394850: 103394850
40AMNNM_030943.3(AMN): c.43+1G> Tsingle nucleotide variantLikely pathogenicrs386834172GRCh37Chr 14, 103389069: 103389069
41AMNNM_030943.3(AMN): c.468dupT (p.Gly157Trpfs)duplicationLikely pathogenicrs386834173GRCh37Chr 14, 103395267: 103395268
42AMNNM_030943.3(AMN): c.514-34G> Asingle nucleotide variantLikely pathogenicrs144077391GRCh37Chr 14, 103395424: 103395424
43AMNNM_030943.3(AMN): c.663G> A (p.Trp221Ter)single nucleotide variantLikely pathogenicrs386834174GRCh37Chr 14, 103395776: 103395776
44AMNNM_030943.3(AMN): c.683_730del48 (p.Gln228_Leu243del)deletionLikely pathogenicrs386834175GRCh37Chr 14, 103395796: 103395843
45AMNNM_030943.3(AMN): c.701G> T (p.Cys234Phe)single nucleotide variantLikely pathogenicrs386834176GRCh37Chr 14, 103395814: 103395814
46AMNNM_030943.3(AMN): c.742C> T (p.Gln248Ter)single nucleotide variantLikely pathogenicrs386834177GRCh37Chr 14, 103395855: 103395855
47AMNNM_030943.3(AMN): c.761G> A (p.Gly254Glu)single nucleotide variantLikely pathogenicrs386834178GRCh37Chr 14, 103395992: 103395992
48AMNNM_030943.3(AMN): c.974_977dupCCCG (p.Ala327Profs)duplicationLikely pathogenicrs386834179GRCh37Chr 14, 103396391: 103396394
49CUBNNM_001081.3(CUBN): c.3330-439C> Gsingle nucleotide variantLikely pathogenicrs386833782GRCh37Chr 10, 17088532: 17088532
50CUBNNM_001081.3(CUBN): c.3890C> T (p.Pro1297Leu)single nucleotide variantLikely pathogenicrs121434430GRCh37Chr 10, 17083159: 17083159

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

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Expression patterns in normal tissues for genes affiliated with Megaloblastic Anemia-1, Finnish Type

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

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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)37
molybdenum cofactor biosynthesis37
coenzyme A biosynthesis37
thiamin salvage III37
alanine biosynthesis III37
thio-molybdenum cofactor biosynthesis37
biotin-carboxyl carrier protein assembly37
9.1CUBN, AMN
2
Show member pathways
9.1CUBN, AMN

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

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Sources:
50PharmGKB, 24HMDB, 11DrugBank, 44Novoseek
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Compounds related to Megaloblastic Anemia-1, Finnish Type according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1cyanocobalamin50 24 1111.1CUBN, AMN
2hydroxocobalamin44 119.8CUBN, AMN

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

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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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  • Antibodies
  • Proteins
  • Lysates

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet