MCID: MGL016
MIFTS: 34

Megaloblastic Anemia-1, Finnish Type malady

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

Aliases & Classifications for Megaloblastic Anemia-1, Finnish Type

About this section
Sources:
49OMIM, 11diseasecard, 22GeneTests, 67UniProtKB/Swiss-Prot, 23Genetics Home Reference, 47Novoseek, 51Orphanet, 65UMLS, 28ICD10 via Orphanet, 34MedGen
See all sources

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

Name: Megaloblastic Anemia-1, Finnish Type 49 11 22
Imerslund-Grasbeck Syndrome 23 47 67
Megaloblastic Anemia-1, Norwegian Type 49 22
Gräsbeck-Imerslund Disease 22 51
Juvenile Pernicious Anemia with Proteinuria Due to Selective Intestinal Malabsorption of Vitamin B12 23
Megaloblastic Anemia Due to Inborn Errors of Metabolism 65
Selective Cobalamin Malabsorption with Proteinuria 51
Defect of Enterocyte Intrinsic Factor Receptor 23
Recessive Hereditary Megaloblastic Anemia 1 67
 
Enterocyte Cobalamin Malabsorption 23
Familial Megaloblastic Anemia 51
Imerslund-Gräsbeck Syndrome 23
Juvenile Pernicious Anemia 22
Megaloblastic Anemia 1 23
Mga1 Norwegian Type 67
Rh-Mga1 67
Mga1 22
I-Gs 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
gräsbeck-imerslund disease:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Finland),1-9/1000000 (Norway); Age of onset: Childhood


External Ids:

OMIM49 261100
Orphanet51 35858
ICD10 via Orphanet28 D51.1
MedGen34 C1306856

Summaries for Megaloblastic Anemia-1, Finnish Type

About this section
Genetics Home Reference:23 Imerslund-Gräsbeck syndrome is a condition caused by low levels of vitamin B12 (also known as cobalamin). The primary feature of this condition is a blood disorder called megaloblastic anemia. In this form of anemia, which is a disorder characterized by the shortage of red blood cells, the red cells that are present are abnormally large. About half of people with Imerslund-Gräsbeck syndrome also have high levels of protein in their urine (proteinuria). Although proteinuria can be an indication of kidney problems, people with Imerslund-Gräsbeck syndrome appear to have normal kidney function.

MalaCards based summary: Megaloblastic Anemia-1, Finnish Type, also known as imerslund-grasbeck syndrome, is related to pernicious anemia and 3-methylglutaconic aciduria, type i, 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 Metabolism of vitamins and cofactors and Lipoprotein metabolism. Affiliated tissues include kidney and thyroid.

OMIM:49 Imerslund-Grasbeck syndrome is a form of congenital megaloblastic anemia due to vitamin B12 deficiency caused by a... (261100) more...

UniProtKB/Swiss-Prot:67 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

About this section

Diseases related to Megaloblastic Anemia-1, Finnish Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
idRelated DiseaseScoreTop Affiliating Genes
1pernicious anemia30.4AMN, CUBN
23-methylglutaconic aciduria, type i30.3AMN, CUBN
3megaloblastic anemia10.4
4thalassemia10.4
5aphthous stomatitis10.4
6stomatitis10.4
7retinitis10.2
83-methylglutaconic aciduria, type iii10.1
9megaloblastic anemia-1, finnish type9.9AMN, CUBN
10post-surgical hypoinsulinemia9.8AMN, CUBN
11vitreous disease9.8AMN, CUBN
12macular retinal edema9.7AMN, 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

About this section

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

About this section

Interventional clinical trials:

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

Genetic Tests for Megaloblastic Anemia-1, Finnish Type

About this section

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

id Genetic test Affiliating Genes
1 Megaloblastic Anemia 1, Finnish Type22 CUBN
2 Megaloblastic Anemia 1, Norwegian Type22 AMN

Anatomical Context for Megaloblastic Anemia-1, Finnish Type

About this section

MalaCards organs/tissues related to Megaloblastic Anemia-1, Finnish Type:

33
Kidney, Thyroid

Animal Models for Megaloblastic Anemia-1, Finnish Type or affiliated genes

About this section

Publications for Megaloblastic Anemia-1, Finnish Type

About this section

Variations for Megaloblastic Anemia-1, Finnish Type

About this section

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

67
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

About this section
Search GEO for disease gene expression data for Megaloblastic Anemia-1, Finnish Type.

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

About this section

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

idSuper pathways (with members indented)ScoreTop 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

About this section

Cellular components related to Megaloblastic Anemia-1, Finnish Type according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1endosome membraneGO:00100089.3AMN, CUBN
2endocytic vesicleGO:00301399.2AMN, CUBN
3apical part of cellGO:00451779.1AMN, CUBN
4apical plasma membraneGO:00163249.1AMN, CUBN

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

idNameGO IDScoreTop Affiliating Genes
1cobalamin transportGO:00158899.6AMN, CUBN
2lipoprotein metabolic processGO:00421579.5AMN, CUBN
3cobalamin metabolic processGO:00092359.4AMN, CUBN
4vitamin metabolic processGO:00067669.1AMN, CUBN
5receptor-mediated endocytosisGO:00068989.1AMN, CUBN
6water-soluble vitamin metabolic processGO:00067679.0AMN, CUBN

Sources for Megaloblastic Anemia-1, Finnish Type

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet