MCID: MGL016
MIFTS: 46

Megaloblastic Anemia-1, Finnish Type malady

Categories: Genetic diseases, Rare diseases, Gastrointestinal diseases, Nephrological diseases, Metabolic diseases, Blood 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 51 12
Imerslund-Grasbeck Syndrome 11 47 24 25 69 49
Megaloblastic Anemia 1 51 47 25
Megaloblastic Anemia 11 26 13
Selective Cobalamin Malabsorption with Proteinuria 47 53
Defect of Enterocyte Intrinsic Factor Receptor 47 25
Recessive Hereditary Megaloblastic Anemia 1 11 69
Enterocyte Cobalamin Malabsorption 47 25
Familial Megaloblastic Anemia 47 53
Gräsbeck-Imerslund Disease 47 53
Anemia, Megaloblastic 38 67
Mga1 Norwegian Type 11 69
Rh-Mga1 11 69
Igs 11 47
 
Pernicious Anemia, Juvenile, Due to Selective Intestinal Malabsorption of Vitamin B12, with Proteinuria 47
Juvenile Pernicious Anemia with Proteinuria Due to Selective Intestinal Malabsorption of Vitamin B12 25
Megaloblastic Anemia Due to Inborn Errors of Metabolism 67
Megaloblastic Anemia-1, Norwegian Type 51
Megaloblastic Anemia 1, Norwegian Type 24
3-@methylglutaconic Aciduria, Type I 67
Megaloblastic Anemia 1, Finnish Type 24
Imerslund-Gräsbeck Syndrome 25
Grasbeck-Imerslund Syndrome 11
Juvenile Pernicious Anemia 24
Anemia Megaloblastic 49
Mga1 24
I-Gs 69

Characteristics:

Orphanet epidemiological data:

53
selective cobalamin malabsorption with proteinuria:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Finland),1-9/1000000 (Norway); Age of onset: Childhood

HPO:

63
megaloblastic anemia-1, finnish type:
Inheritance: autosomal recessive inheritance
Onset and clinical course: childhood onset

Classifications:



External Ids:

OMIM51 261100
Disease Ontology11 DOID:13382
ICD1029 D53.1
MeSH38 D000749
NCIt44 C34382
Orphanet53 ORPHA35858
ICD10 via Orphanet30 D51.1
MedGen36 C1306856

Summaries for Megaloblastic Anemia-1, Finnish Type

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Genetics Home Reference:25 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 congenital intrinsic factor deficiency and heart disease, and has symptoms including proteinuria, dementia and confusion. An important gene associated with Megaloblastic Anemia-1, Finnish Type is CUBN (Cubilin), and among its related pathways are Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE and Defective AMN causes hereditary megaloblastic anemia 1. The drugs l-methylfolate and folic acid have been mentioned in the context of this disorder. Affiliated tissues include kidney and thyroid.

Disease Ontology:11 A macrocytic anemia that is characterized by inhibition of DNA synthesis during red blood cell production.

NIH Rare Diseases:47 Imerslund-Grasbeck syndrome (IGS) is a rare condition characterized by vitamin B12 deficiency, often causing megaloblastic anemia. IGS usually appears in childhood. Other features may include failure to thrive, infections, and neurological damage. Mild proteinuria (with no signs of kidney disease) is present in about half of affected individuals. IGS is caused by mutations in either the CUBN or AMN gene and is inherited in an autosomal recessive manner. Treatment includes life-long vitamin B12 injections, with which affected individuals can stay healthy for decades. Last updated: 1/6/2014

OMIM:51 Imerslund-Grasbeck syndrome is a form of congenital megaloblastic anemia due to vitamin B12 deficiency caused by a... (261100) more...

UniProtKB/Swiss-Prot:69 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:

(show top 50)    (show all 507)
idRelated DiseaseScoreTop Affiliating Genes
1congenital intrinsic factor deficiency33.5MTR, MTRR
2heart disease30.2CD40LG, CD79A
3autosomal dominant disease30.0AMN, CUBN, GIF
4viral meningitis29.9CD40LG, CD79A
5psoriasis29.9CD40LG, CD79A
6thiamine-responsive megaloblastic anemia syndrome12.6
7hyper-ige recurrent infection syndrome12.4
8homocystinuria-megaloblastic anemia, cbl e type12.4
9megaloblastic anemia due to dihydrofolate reductase deficiency12.4
10homocystinuria-megaloblastic anemia, cblg complementation type12.3
11hyper-ige recurrent infection syndrome, autosomal recessive12.2
12erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper ige12.1
13congenital disorder of glycosylation, type ig12.0
14hyper ige syndrome12.0
15cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and mental retardation12.0
16amelogenesis imperfecta, type ig12.0
17selective ige deficiency disease11.8
18amelogenesis imperfecta hypoplastic type, ig11.7
19acquired monoclonal ig light chain-associated fanconi syndrome11.7
203-methylglutaconic aciduria, type i11.6
21immunodeficiency 3511.6
22orotic aciduria11.5
23intrinsic factor deficiency11.5
24alg12-congenital disorder of glycosylation11.4
25iminoglycinuria, digenic11.3
26immunodeficiency 2311.3
27idiopathic generalized epilepsy11.3
28transcobalamin ii deficiency11.2
29atrophic gastritis11.2
30common variable immunodeficiency11.2
31asthma11.2
32netherton syndrome11.2
33lubani-al saleh-teebi syndrome11.2
34atopy11.1
35glutamate formiminotransferase deficiency11.1
36allergic asthma11.1
37immunodeficiency with hyper-igm, type 210.9
38immunodeficiency with hyper igm, type 510.9
39immunodeficiency, x-linked, with hyper-igm10.9
40nephrotic syndrome, type 710.8
41usher syndrome, type 1g10.8
42non-immunoglobulin-mediated membranoproliferative glomerulonephritis10.8
433-methylglutaconic aciduria, type iii10.8
44asthma-related traits 710.8
45hyperglycinuria10.8
46peeling skin syndrome 110.8
47asthma 210.8
48omenn syndrome10.8
49asthma susceptibility 510.8
50asthma 110.8

Graphical network of the top 20 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

Human phenotypes related to Megaloblastic Anemia-1, Finnish Type:

 63 (show all 7)
id Description HPO Frequency HPO Source Accession
1 proteinuria63 HP:0000093
2 dementia63 HP:0000726
3 confusion63 HP:0001289
4 megaloblastic anemia63 HP:0001889
5 paresthesia63 HP:0003401
6 sensory impairment63 HP:0003474
7 malabsorption of vitamin b1263 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

Inferred drug relations via UMLS67/NDF-RT45:


Cochrane evidence based reviews: anemia, megaloblastic

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 Anemia26
2 Megaloblastic Anemia 1, Finnish Type24 CUBN
3 Megaloblastic Anemia 1, Norwegian Type24 AMN

Anatomical Context for Megaloblastic Anemia-1, Finnish Type

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

35
Kidney, 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:

69
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, -2SNVPathogenicChr na, -1: -1
3CUBNNM_001081.3(CUBN): c.1230+1G> ASNVLikely pathogenicrs386833766GRCh37Chr 10, 17147455: 17147455
4CUBNNM_001081.3(CUBN): c.1436C> G (p.Ser479Ter)SNVLikely 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=)SNVLikely 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 pathogenic, Pathogenicrs386833771GRCh37Chr 10, 17130245: 17130245
9CUBNNM_001081.3(CUBN): c.1951C> T (p.Arg651Ter)SNVLikely pathogenicrs182512508GRCh37Chr 10, 17127755: 17127755
10CUBNNM_001081.3(CUBN): c.2068A> G (p.Ile690Val)SNVLikely pathogenicrs386833772GRCh37Chr 10, 17127638: 17127638
11CUBNNM_001081.3(CUBN): c.2486C> T (p.Ser829Leu)SNVLikely pathogenicrs386833773GRCh37Chr 10, 17113564: 17113564
12CUBNNM_001081.3(CUBN): c.250C> T (p.Gln84Ter)SNVLikely 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> ASNVLikely 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)SNVLikely pathogenicrs386833778GRCh37Chr 10, 17110722: 17110722
17CUBNNM_001081.3(CUBN): c.2949C> A (p.Tyr983Ter)SNVLikely pathogenicrs386833779GRCh37Chr 10, 17110122: 17110122
18CUBNNM_001081.3(CUBN): c.3056C> G (p.Ser1019Ter)SNVLikely 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)SNVLikely pathogenicrs386833783GRCh37Chr 10, 17087101: 17087101
21CUBNNM_001081.3(CUBN): c.3749C> T (p.Ser1250Phe)SNVLikely pathogenicrs386833784GRCh37Chr 10, 17085906: 17085906
22CUBNNM_001081.3(CUBN): c.3999C> A (p.Cys1333Ter)SNVLikely pathogenicrs386833785GRCh37Chr 10, 17083050: 17083050
23CUBNNM_001081.3(CUBN): c.4115C> G (p.Thr1372Arg)SNVLikely pathogenicrs386833786GRCh37Chr 10, 17061885: 17061885
24CUBNNM_001081.3(CUBN): c.4168G> A (p.Gly1390Ser)SNVLikely pathogenicrs386833787GRCh37Chr 10, 17061832: 17061832
25CUBNNM_001081.3(CUBN): c.434G> A (p.Gly145Glu)SNVLikely pathogenicrs386833788GRCh37Chr 10, 17165642: 17165642
26CUBNNM_001081.3(CUBN): c.489G> A (p.Lys163=)SNVLikely pathogenicrs386833789GRCh37Chr 10, 17165587: 17165587
27CUBNNM_001081.3(CUBN): c.673T> A (p.Cys225Ser)SNVLikely pathogenicrs386833790GRCh37Chr 10, 17157517: 17157517
28CUBNNM_001081.3(CUBN): c.889C> T (p.Gln297Ter)SNVLikely 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> TSNVLikely pathogenicrs386834164GRCh37Chr 14, 103396737: 103396737
34AMNNM_030943.3(AMN): c.1253dupA (p.Leu419Alafs)duplicationLikely pathogenicrs386834165GRCh37Chr 14, 103396826: 103396826
35AMNNM_030943.3(AMN): c.1257+10C> TSNVLikely 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> CSNVLikely pathogenicrs386834169GRCh37Chr 14, 103394762: 103394762
39AMNNM_030943.3(AMN): c.208-2A> GSNVLikely pathogenicrs386834170GRCh37Chr 14, 103394761: 103394761
40AMNNM_030943.3(AMN): c.295delG (p.Gly99Alafs)deletionLikely pathogenicrs386834171GRCh37Chr 14, 103394850: 103394850
41AMNNM_030943.3(AMN): c.43+1G> TSNVLikely pathogenicrs386834172GRCh37Chr 14, 103389069: 103389069
42AMNNM_030943.3(AMN): c.468dupT (p.Gly157Trpfs)duplicationLikely pathogenicrs386834173GRCh37Chr 14, 103395267: 103395267
43AMNNM_030943.3(AMN): c.514-34G> ASNVLikely pathogenicrs144077391GRCh37Chr 14, 103395424: 103395424
44AMNNM_030943.3(AMN): c.663G> A (p.Trp221Ter)SNVLikely 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)SNVLikely pathogenicrs386834176GRCh37Chr 14, 103395814: 103395814
47AMNNM_030943.3(AMN): c.742C> T (p.Gln248Ter)SNVLikely pathogenicrs386834177GRCh37Chr 14, 103395855: 103395855
48AMNNM_030943.3(AMN): c.761G> A (p.Gly254Glu)SNVLikely 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> GSNVLikely pathogenicrs386833782GRCh37Chr 10, 17088532: 17088532
51CUBNNM_001081.3(CUBN): c.3890C> T (p.Pro1297Leu)SNVLikely 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
10.1MTR, MTRR
2
Show member pathways
10.0AMN, CUBN, GIF
3
Show member pathways
9.9GIF, MTHFR, MTRR
49.8CUBN, GIF, SLC19A2, TCN2
5
Show member pathways
9.7MTHFR, MTR, MTRR, TCN2
6
Show member pathways
9.4AMN, CUBN, GIF, MTR, MTRR, TCN2
79.4AMN, CUBN, GIF, MTR, MTRR, TCN2
8
Show member pathways
8.8AMN, CUBN, GIF, MTHFR, MTR, MTRR

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
1lysosomal lumenGO:004320210.4CUBN, GIF, TCN2
2clathrin-coated pitGO:000590510.1AMN, CUBN, TFRC
3endosomeGO:00057689.4CUBN, GIF, TCN2, TFRC
4extracellular spaceGO:00056158.3AMN, CD40LG, GIF, HP, JCHAIN, PIGR

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1methionine metabolic processGO:000655510.6MTHFR, MTRR
2cobalt ion transportGO:000682410.6GIF, TCN2
3thiamine-containing compound metabolic processGO:004272310.5SLC19A2, TPK1
4methionine biosynthetic processGO:000908610.5MTR, MTRR
5sulfur amino acid metabolic processGO:000009610.4MTR, MTRR
6cobalamin transportGO:001588910.1AMN, CUBN, GIF, TCN2
7folic acid metabolic processGO:004665510.0MTHFR, MTRR
8cobalamin metabolic processGO:00092359.6AMN, CUBN, GIF, MTR, MTRR, TCN2
9receptor-mediated endocytosisGO:00068989.1AMN, CUBN, HP, JCHAIN, TFRC

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

idNameGO IDScoreTop Affiliating Genes
1cobalamin bindingGO:00314199.8CUBN, GIF, MTR, TCN2

Sources for Megaloblastic Anemia-1, Finnish Type

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet