RH-MGA1
MCID: MGL016
MIFTS: 34

Megaloblastic Anemia-1, Finnish Type (RH-MGA1) 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 52 12
Imerslund-Grasbeck Syndrome 24 70 50
Megaloblastic Anemia Due to Inborn Errors of Metabolism 68
Selective Cobalamin Malabsorption with Proteinuria 54
Recessive Hereditary Megaloblastic Anemia 1 70
Megaloblastic Anemia 1, Norwegian Type 24
Megaloblastic Anemia-1, Norwegian Type 52
Megaloblastic Anemia 1, Finnish Type 24
3-@methylglutaconic Aciduria, Type I 68
 
Familial Megaloblastic Anemia 54
Gräsbeck-Imerslund Disease 54
Juvenile Pernicious Anemia 24
Megaloblastic Anemia 1 52
Mga1 Norwegian Type 70
Rh-Mga1 70
Mga1 24
I-Gs 70

Characteristics:

Orphanet epidemiological data:

54
selective cobalamin malabsorption with proteinuria:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Finland),1-9/1000000 (Norway); Age of onset: Childhood

HPO:

64
megaloblastic anemia-1, finnish type:
Inheritance: autosomal recessive inheritance
Onset and clinical course: childhood onset

Classifications:



External Ids:

OMIM52 261100
Orphanet54 ORPHA35858
ICD10 via Orphanet31 D51.1
MedGen37 C1306856

Summaries for Megaloblastic Anemia-1, Finnish Type

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OMIM:52 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 3-methylglutaconic aciduria, type i and megaloblastic anemia, 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 Defective CUBN causes hereditary megaloblastic anemia 1 and Defective MTR causes methylmalonic aciduria and homocystinuria type cblG. Affiliated tissues include thyroid.

UniProtKB/Swiss-Prot:70 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 all 31)
idRelated DiseaseScoreTop Affiliating Genes
13-methylglutaconic aciduria, type i11.6
2megaloblastic anemia11.5
3autosomal recessive disease10.2AMN, CUBN
4diabetes mellitus, insulin-dependent, 410.1AMN, CUBN
5nephronophthisis 1610.1AMN, CUBN
6x-linked disease10.1MTR, MTRR
7autosomal dominant disease10.1MTR, MTRR
8ezh2-related overgrowth10.1MTR, MTRR
9skeletal muscle regeneration10.1MTR, MTRR
10myh7-related myosin storage myopathy10.0MTHFR, MTR
11homocystinuria due to mthfr deficiency10.0MTHFR, MTR
12hyperekplexia 2, autosomal recessive9.9MTHFR, MTR
13congenital intrinsic factor deficiency9.9MTHFR, MTR
14borderline glaucoma9.8MTHFR, MTR
15mixed astrocytoma-ependymoma-oligodendroglioma9.8MTHFR, TFRC
16deafness, autosomal recessive 459.8MTHFR, MTR, MTRR
17myosclerosis, congenital9.8MTHFR, MTR, MTRR
18congenital symblepharon9.8MTHFR, MTR
19houlston ironton temple syndrome9.8MTHFR, MTR, MTRR
20autosomal dominant sideroblastic anemia9.8MTHFR, MTR, MTRR
21craniofaciofrontodigital syndrome9.8MTHFR, MTR, MTRR
22cleft lip9.8MTHFR, MTR, MTRR
23neurofibroma of the heart9.8MTHFR, MTR, MTRR
24chronic ethmoiditis9.8MTHFR, MTR, MTRR
25familial abdominal aortic aneurysm9.7MTHFR, MTRR
26pericarditis9.7MTHFR, MTR, MTRR
27hmg-coa synthase-2 deficiency9.7MTHFR, MTR, MTRR
28coenzyme q10 deficiency disease9.7AMN, CUBN, MTHFR, MTR
29agammaglobulinemia 29.7CUBN, MTHFR, MTR, MTRR
30vaginal glandular tumor9.3AMN, CUBN, MTHFR, MTR, MTRR, TFRC
31warburg micro syndrome 39.1AMN, CUBN, MT-TY, MTHFR, MTR, MTRR

Graphical network of the top 20 diseases related to Megaloblastic Anemia-1, Finnish Type:



Diseases related to megaloblastic anemia-1, finnish type

Symptoms & Phenotypes 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:

 64 (show all 7)
id Description HPO Frequency HPO Source Accession
1 proteinuria64 HP:0000093
2 dementia64 HP:0000726
3 confusion64 HP:0001289
4 megaloblastic anemia64 HP:0001889
5 paresthesia64 HP:0003401
6 sensory impairment64 HP:0003474
7 malabsorption of vitamin b1264 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 Type24 CUBN
2 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:

36
Thyroid

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:

70
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, -2SNVPathogenic
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)deletionPathogenic/ Likely 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)SNVPathogenic/ Likely 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
9.7AMN, CUBN
2
Show member pathways
9.5MTR, MTRR
38.7AMN, CUBN, MTR, MTRR
4
Show member pathways
8.7AMN, CUBN, MTR, MTRR
5
Show member pathways
8.7MTHFR, MTR, MTRR
6
Show member pathways
8.3CUBN, MTHFR, MTR, MTRR
7
Show member pathways
7.9AMN, CUBN, 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
1apical part of cellGO:004517710.3AMN, CUBN
2brush border membraneGO:003152610.3AMN, CUBN
3endocytic vesicleGO:003013910.3AMN, CUBN
4clathrin-coated pitGO:00059059.8AMN, CUBN, TFRC
5endosome membraneGO:00100089.2AMN, CUBN, TFRC

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1cobalamin transportGO:001588910.3AMN, CUBN
2high-density lipoprotein particle clearanceGO:003438410.3AMN, CUBN
3lipoprotein metabolic processGO:004215710.3AMN, CUBN
4cellular amino acid biosynthetic processGO:000865210.1MTR, MTRR
5methionine biosynthetic processGO:000908610.1MTR, MTRR
6folic acid metabolic processGO:00466559.8MTHFR, MTRR
7methionine metabolic processGO:00065559.8MTHFR, MTRR
8sulfur amino acid metabolic processGO:00000969.5MTR, MTRR
9receptor-mediated endocytosisGO:00068989.3AMN, CUBN, TFRC
10cobalamin metabolic processGO:00092359.3AMN, CUBN, MTR, MTRR

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

idNameGO IDScoreTop Affiliating Genes
1cobalamin bindingGO:003141910.1CUBN, MTR
2flavin adenine dinucleotide bindingGO:00506609.6MTHFR, MTRR
3NADP bindingGO:00506619.2MTHFR, MTRR

Sources for Megaloblastic Anemia-1, Finnish Type

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet