MCID: MGL016
MIFTS: 31

Megaloblastic Anemia-1, Finnish Type malady

Categories: Genetic diseases, Gastrointestinal diseases, Nephrological diseases, Metabolic diseases, Blood diseases, Rare diseases

Aliases & Classifications for Megaloblastic Anemia-1, Finnish Type

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

Name: Megaloblastic Anemia-1, Finnish Type 50 12
Imerslund-Grasbeck Syndrome 23 68 48
Megaloblastic Anemia Due to Inborn Errors of Metabolism 66
Selective Cobalamin Malabsorption with Proteinuria 52
Recessive Hereditary Megaloblastic Anemia 1 68
Megaloblastic Anemia 1, Norwegian Type 23
Megaloblastic Anemia-1, Norwegian Type 50
Megaloblastic Anemia 1, Finnish Type 23
3-@methylglutaconic Aciduria, Type I 66
 
Familial Megaloblastic Anemia 52
Gräsbeck-Imerslund Disease 52
Juvenile Pernicious Anemia 23
Megaloblastic Anemia 1 50
Mga1 Norwegian Type 68
Rh-Mga1 68
I-Gs 68
Mga1 23

Characteristics:

Orphanet epidemiological data:

52
selective cobalamin malabsorption with proteinuria:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Finland),1-9/1000000 (Norway); Age of onset: Childhood

HPO:

62
megaloblastic anemia-1, finnish type:
Inheritance: autosomal recessive inheritance
Onset and clinical course: childhood onset


Classifications:



External Ids:

OMIM50 261100
Orphanet52 ORPHA35858
ICD10 via Orphanet29 D51.1
MedGen35 C1306856

Summaries for Megaloblastic Anemia-1, Finnish Type

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OMIM:50 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 imerslund-grasbeck syndrome, is related to megaloblastic anemia and 3-methylglutaconic aciduria, type i, and has symptoms including athetosis, cerebellar ataxia and proteinuria. An important gene associated with Megaloblastic Anemia-1, Finnish Type is CUBN (Cubilin), and among its related pathways are Metabolism of water-soluble vitamins and cofactors and Lipoprotein metabolism. Affiliated tissues include thyroid.

UniProtKB/Swiss-Prot:68 Recessive hereditary megaloblastic anemia 1: Due to selective malabsorption of vitamin B12. Defects in vitamin B12 absorption lead to impaired function of thymidine synthase. As a consequence DNA synthesis is interrupted. Rapidly dividing cells involved in erythropoiesis are particularly affected.

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 Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1megaloblastic anemia11.6
23-methylglutaconic aciduria, type i11.5
3coenzyme q10 deficiency, primary, 29.5AMN, CUBN
4color blindness9.5AMN, CUBN
5autosomal dominant disease9.4AMN, CUBN
6serine deficiency9.2AMN, CUBN

Graphical network of diseases related to Megaloblastic Anemia-1, Finnish Type:



Diseases related to megaloblastic anemia-1, finnish type

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 7)
id Description Frequency HPO Source Accession
1 proteinuria HP:0000093
2 dementia HP:0000726
3 confusion HP:0001289
4 megaloblastic anemia HP:0001889
5 paresthesia HP:0003401
6 sensory impairment HP:0003474
7 malabsorption of vitamin b12 HP:0200118

UMLS symptoms related to Megaloblastic Anemia-1, Finnish Type:


athetosis, cerebellar ataxia

Drugs & Therapeutics for Megaloblastic Anemia-1, Finnish Type

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Interventional clinical trials:

Search ClinicalTrials, 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 1, Finnish Type23 CUBN
2 Megaloblastic Anemia 1, Norwegian Type23 AMN

Anatomical Context for Megaloblastic Anemia-1, Finnish Type

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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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UniProtKB/Swiss-Prot genetic disease variations for Megaloblastic Anemia-1, Finnish Type:

68
id Symbol AA change Variation ID SNP ID
1AMNp.Thr41IleVAR_015733rs28939377
2CUBNp.Pro1297LeuVAR_025288rs28939699

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

5 (show all 51)
id Gene Variation Type Significance SNP ID Assembly Location
1CUBNNM_001081.3(CUBN): c.6928_6934delGAGGTTA (p.Glu2310Cysfs)deletionPathogenicrs757649673GRCh37Chr 10, 16960687: 16960693
2AMNAMN, IVS3, A-G, -2single nucleotide variantPathogenic
3CUBNNM_001081.3(CUBN): c.1230+1G> Asingle nucleotide variantLikely pathogenicrs386833766GRCh37Chr 10, 17147455: 17147455
4CUBNNM_001081.3(CUBN): c.1436C> G (p.Ser479Ter)single nucleotide variantLikely pathogenicrs386833767GRCh37Chr 10, 17145218: 17145218
5CUBNNM_001081.3(CUBN): c.1526delG (p.Gly509Glufs)deletionLikely pathogenicrs386833768GRCh37Chr 10, 17145128: 17145128
6CUBNNM_001081.3(CUBN): c.1530G> A (p.Lys510=)single nucleotide variantLikely pathogenicrs386833769GRCh37Chr 10, 17145124: 17145124
7CUBNNM_001081.3(CUBN): c.1838delG (p.Gly613Glufs)deletionLikely pathogenicrs386833770GRCh37Chr 10, 17130272: 17130272
8CUBNNM_001081.3(CUBN): c.1865delC (p.Thr622Ilefs)deletionLikely pathogenicrs386833771GRCh37Chr 10, 17130245: 17130245
9CUBNNM_001081.3(CUBN): c.1951C> T (p.Arg651Ter)single nucleotide variantLikely pathogenicrs182512508GRCh37Chr 10, 17127755: 17127755
10CUBNNM_001081.3(CUBN): c.2068A> G (p.Ile690Val)single nucleotide variantLikely pathogenicrs386833772GRCh37Chr 10, 17127638: 17127638
11CUBNNM_001081.3(CUBN): c.2486C> T (p.Ser829Leu)single nucleotide variantLikely pathogenicrs386833773GRCh37Chr 10, 17113564: 17113564
12CUBNNM_001081.3(CUBN): c.250C> T (p.Gln84Ter)single nucleotide variantLikely pathogenicrs386833774GRCh37Chr 10, 17171122: 17171122
13CUBNNM_001081.3(CUBN): c.2515_2533del19 (p.Glu839Profs)deletionLikely pathogenicrs386833775GRCh37Chr 10, 17113517: 17113535
14CUBNNM_001081.3(CUBN): c.252+1G> Asingle nucleotide variantLikely pathogenicrs386833776GRCh37Chr 10, 17171119: 17171119
15CUBNNM_001081.3(CUBN): c.2614_2615delGA (p.Asp872Leufs)deletionLikely pathogenicrs386833777GRCh37Chr 10, 17113435: 17113436
16CUBNNM_001081.3(CUBN): c.2673C> A (p.Cys891Ter)single nucleotide variantLikely pathogenicrs386833778GRCh37Chr 10, 17110722: 17110722
17CUBNNM_001081.3(CUBN): c.2949C> A (p.Tyr983Ter)single nucleotide variantLikely pathogenicrs386833779GRCh37Chr 10, 17110122: 17110122
18CUBNNM_001081.3(CUBN): c.3056C> G (p.Ser1019Ter)single nucleotide variantLikely pathogenicrs386833780GRCh37Chr 10, 17107590: 17107590
19CUBNNM_001081.3(CUBN): c.3096delT (p.Tyr1032Terfs)deletionLikely pathogenicrs386833781GRCh37Chr 10, 17107550: 17107550
20CUBNNM_001081.3(CUBN): c.3577T> G (p.Trp1193Gly)single nucleotide variantLikely pathogenicrs386833783GRCh37Chr 10, 17087101: 17087101
21CUBNNM_001081.3(CUBN): c.3749C> T (p.Ser1250Phe)single nucleotide variantLikely pathogenicrs386833784GRCh37Chr 10, 17085906: 17085906
22CUBNNM_001081.3(CUBN): c.3999C> A (p.Cys1333Ter)single nucleotide variantLikely pathogenicrs386833785GRCh37Chr 10, 17083050: 17083050
23CUBNNM_001081.3(CUBN): c.4115C> G (p.Thr1372Arg)single nucleotide variantLikely pathogenicrs386833786GRCh37Chr 10, 17061885: 17061885
24CUBNNM_001081.3(CUBN): c.4168G> A (p.Gly1390Ser)single nucleotide variantLikely pathogenicrs386833787GRCh37Chr 10, 17061832: 17061832
25CUBNNM_001081.3(CUBN): c.434G> A (p.Gly145Glu)single nucleotide variantLikely pathogenicrs386833788GRCh37Chr 10, 17165642: 17165642
26CUBNNM_001081.3(CUBN): c.489G> A (p.Lys163=)single nucleotide variantLikely pathogenicrs386833789GRCh37Chr 10, 17165587: 17165587
27CUBNNM_001081.3(CUBN): c.673T> A (p.Cys225Ser)single nucleotide variantLikely pathogenicrs386833790GRCh37Chr 10, 17157517: 17157517
28CUBNNM_001081.3(CUBN): c.889C> T (p.Gln297Ter)single nucleotide variantLikely pathogenicrs386833791GRCh37Chr 10, 17153044: 17153044
29AMNNM_030943.3(AMN): c.1006+16_1006+30deldeletionLikely pathogenicrs386834160GRCh37Chr 14, 103396439: 103396453
30AMNNM_030943.3(AMN): c.1006+34_1006+48deldeletionLikely pathogenicrs386834161GRCh37Chr 14, 103396457: 103396471
31AMNNM_030943.3(AMN): c.1006+36_1006+50deldeletionLikely pathogenicrs386834162GRCh37Chr 14, 103396459: 103396473
32AMNNM_030943.3(AMN): c.1014_1021delCCTCGGCG (p.Leu339Profs)deletionLikely pathogenicrs386834163GRCh37Chr 14, 103396509: 103396516
33AMNNM_030943.3(AMN): c.1170-6C> Tsingle nucleotide variantLikely pathogenicrs386834164GRCh37Chr 14, 103396737: 103396737
34AMNNM_030943.3(AMN): c.1253dupA (p.Leu419Alafs)duplicationLikely pathogenicrs386834165GRCh37Chr 14, 103396826: 103396826
35AMNNM_030943.3(AMN): c.1257+10C> Tsingle nucleotide variantLikely pathogenicrs386834166GRCh37Chr 14, 103396840: 103396840
36AMNNM_030943.3(AMN): c.1314_1315delCA (p.His438Glnfs)deletionLikely pathogenicrs386834167GRCh37Chr 14, 103396969: 103396970
37AMNNM_030943.3(AMN): c.14delG (p.Gly5Alafs)deletionLikely pathogenicrs386834168GRCh37Chr 14, 103389039: 103389039
38AMNNM_030943.3(AMN): c.208-1G> Csingle nucleotide variantLikely pathogenicrs386834169GRCh37Chr 14, 103394762: 103394762
39AMNNM_030943.3(AMN): c.208-2A> Gsingle nucleotide variantLikely pathogenicrs386834170GRCh37Chr 14, 103394761: 103394761
40AMNNM_030943.3(AMN): c.295delG (p.Gly99Alafs)deletionLikely pathogenicrs386834171GRCh37Chr 14, 103394850: 103394850
41AMNNM_030943.3(AMN): c.43+1G> Tsingle nucleotide variantLikely pathogenicrs386834172GRCh37Chr 14, 103389069: 103389069
42AMNNM_030943.3(AMN): c.468dupT (p.Gly157Trpfs)duplicationLikely pathogenicrs386834173GRCh37Chr 14, 103395267: 103395267
43AMNNM_030943.3(AMN): c.514-34G> Asingle nucleotide variantLikely pathogenicrs144077391GRCh37Chr 14, 103395424: 103395424
44AMNNM_030943.3(AMN): c.663G> A (p.Trp221Ter)single nucleotide variantLikely pathogenicrs386834174GRCh37Chr 14, 103395776: 103395776
45AMNNM_030943.3(AMN): c.683_730del48 (p.Gln228_Leu243del)deletionLikely pathogenicrs386834175GRCh37Chr 14, 103395796: 103395843
46AMNNM_030943.3(AMN): c.701G> T (p.Cys234Phe)single nucleotide variantLikely pathogenicrs386834176GRCh37Chr 14, 103395814: 103395814
47AMNNM_030943.3(AMN): c.742C> T (p.Gln248Ter)single nucleotide variantLikely pathogenicrs386834177GRCh37Chr 14, 103395855: 103395855
48AMNNM_030943.3(AMN): c.761G> A (p.Gly254Glu)single nucleotide variantLikely pathogenicrs386834178GRCh37Chr 14, 103395992: 103395992
49AMNNM_030943.3(AMN): c.974_977dupCCCG (p.Ala327Profs)duplicationLikely pathogenicrs386834179GRCh37Chr 14, 103396391: 103396394
50CUBNNM_001081.3(CUBN): c.3330-439C> Gsingle nucleotide variantLikely pathogenicrs386833782GRCh37Chr 10, 17088532: 17088532
51CUBNNM_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 Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.1AMN, CUBN
2
Show member pathways
9.1AMN, CUBN
3
Show member pathways
9.1AMN, CUBN
49.1AMN, CUBN
5
Show member pathways
9.1AMN, CUBN

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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1endosome membraneGO:00100089.4AMN, CUBN
2clathrin-coated pitGO:00059059.4AMN, CUBN
3endocytic vesicleGO:00301399.1AMN, CUBN
4apical plasma membraneGO:00163249.0AMN, CUBN
5apical part of cellGO:00451778.8AMN, CUBN

Biological processes related to Megaloblastic Anemia-1, Finnish Type according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cobalamin metabolic processGO:00092359.4AMN, CUBN
2lipoprotein metabolic processGO:00421579.4AMN, CUBN
3cobalamin transportGO:00158899.3AMN, CUBN
4receptor-mediated endocytosisGO:00068989.1AMN, CUBN

Sources for Megaloblastic Anemia-1, Finnish Type

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet