MCID: MGL016
MIFTS: 28

Megaloblastic Anemia-1, Finnish Type malady

Genetic diseases (common) category

Summaries for Megaloblastic Anemia-1, Finnish Type

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OMIM:47 Imerslund-Grasbeck syndrome is a form of congenital megaloblastic anemia due to vitamin B12 deficiency caused by a... (261100) more...

MalaCards based summary: Megaloblastic Anemia-1, Finnish Type, also known as megaloblastic anemia 1, is related to megaloblastic anemia, and has symptoms including autosomal recessive inheritance, proteinuria and dementia. 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.

Aliases & Classifications for Megaloblastic Anemia-1, Finnish Type

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Megaloblastic Anemia-1, Finnish Type, Aliases & Descriptions:

Name: Megaloblastic Anemia-1, Finnish Type 47 11
Megaloblastic Anemia 1 47 22
 
Megaloblastic Anemia-1, Norwegian Type 47
Familial Megaloblastic Anaemia 62


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


External Ids:

OMIM47 261100

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 anemia30.8CUBN

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:

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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Genetic tests related to Megaloblastic Anemia-1, Finnish Type:

id Genetic test Affiliating Genes
1 Megaloblastic Anemia 122 CUBN

Anatomical Context for Megaloblastic Anemia-1, Finnish Type

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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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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:

7 (show all 50)
id Gene Variation 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 pathogenic, Pathogenicrs121434430GRCh37Chr 10, 17083159: 17083159

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

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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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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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Sources:
51PharmGKB, 26HMDB, 13DrugBank, 45Novoseek
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Compounds related to Megaloblastic Anemia-1, Finnish Type according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1cyanocobalamin51 26 1311.1CUBN, AMN
2hydroxocobalamin45 139.8CUBN, 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:00163249.1CUBN, AMN
2endocytic vesicleGO:00301399.0CUBN, AMN
3endosome membraneGO:00100088.8CUBN, AMN

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

idNameGO IDScoreTop Affiliating Genes
1cobalamin transportGO:00158899.2CUBN, AMN
2cobalamin metabolic processGO:00092359.2CUBN, AMN
3lipoprotein metabolic processGO:00421579.1CUBN, AMN
4vitamin metabolic processGO:00067669.1CUBN, AMN
5receptor-mediated endocytosisGO:00068989.0AMN, CUBN
6water-soluble vitamin metabolic processGO:00067678.8CUBN, 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
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet