MCID: MGL016
MIFTS: 32

Megaloblastic Anemia-1, Finnish Type

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

Aliases & Classifications for Megaloblastic Anemia-1, Finnish Type

MalaCards integrated aliases for Megaloblastic Anemia-1, Finnish Type:

Name: Megaloblastic Anemia-1, Finnish Type 54 13
Imerslund-Grasbeck Syndrome 24 71 52
Megaloblastic Anemia Due to Inborn Errors of Metabolism 69
Selective Cobalamin Malabsorption with Proteinuria 56
Recessive Hereditary Megaloblastic Anemia 1 71
Megaloblastic Anemia-1, Norwegian Type 54
Megaloblastic Anemia 1, Norwegian Type 24
Megaloblastic Anemia 1, Finnish Type 24
3-@methylglutaconic Aciduria, Type I 69
Familial Megaloblastic Anemia 56
Gräsbeck-Imerslund Disease 56
Juvenile Pernicious Anemia 24
Mga1 Norwegian Type 71
Rh-Mga1 71
Mga1 24
I-Gs 71

Characteristics:

Orphanet epidemiological data:

56
gräsbeck-imerslund disease
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Finland),1-9/1000000 (Norway); Age of onset: Childhood;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
early childhood onset (before age 5 years)


HPO:

32
megaloblastic anemia-1, finnish type:
Onset and clinical course childhood onset
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 261100
Orphanet 56 ORPHA35858
UMLS via Orphanet 70 C1306856
ICD10 via Orphanet 34 D51.1
MedGen 40 C1306856

Summaries for Megaloblastic Anemia-1, Finnish Type

OMIM : 54
Imerslund-Grasbeck syndrome is a form of congenital megaloblastic anemia due to vitamin B12 deficiency caused by a defect in the vitamin B12/intrinsic factor receptor. See also congenital pernicious anemia due to a defect in intrinsic factor (261000). Adult pernicious anemia (170900) is a distinct autoimmune disorder associated with plasma autoantibodies to gastric parietal cells or gastric intrinsic factor. In these cases, there is gastric atrophy and a relatively high frequency of associated thyroiditis and myxedema. (261100)

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 megaloblastic anemia, proteinuria and confusion. An important gene associated with Megaloblastic Anemia-1, Finnish Type is CUBN (Cubilin), and among its related pathways/superpathways are Metabolism of water-soluble vitamins and cofactors and Lipoprotein metabolism. Affiliated tissues include thyroid.

UniProtKB/Swiss-Prot : 71 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

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

id Related Disease Score Top Affiliating Genes
1 3-methylglutaconic aciduria, type i 11.6
2 megaloblastic anemia 11.2
3 3-methylglutaconic aciduria, type iii 10.8
4 coenzyme q10 deficiency, primary, 2 9.6 AMN CUBN
5 autosomal dominant disease 9.5 AMN CUBN
6 vaginal glandular tumor 9.5 AMN CUBN
7 bone marrow failure syndrome 2 9.4 AMN CUBN
8 serine deficiency 9.2 AMN CUBN

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

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Peripheral Nervous System:
paresthesias
peripheral neuropathy
sensory impairment

Neurologic- Central Nervous System:
confusion
dementia

Hematology:
megaloblastic anemia, chronic, relapsing
pernicious anemia, not influenced by intrinsic factor

Laboratory- Abnormalities:
proteinuria
decreased levels of serum vitamin b12
normal serum folate levels

Abdomen- Gastroin testinal:
malabsorption of vitamin b12 (cyanocobalamin)
normal intrinsic factor protein

Immunology:
no antibodies to intrinsic factor


Clinical features from OMIM:

261100

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

32 (show all 7)
id Description HPO Frequency HPO Source Accession
1 megaloblastic anemia 32 HP:0001889
2 proteinuria 32 HP:0000093
3 confusion 32 HP:0001289
4 dementia 32 HP:0000726
5 sensory impairment 32 HP:0003474
6 paresthesia 32 HP:0003401
7 malabsorption of vitamin b12 32 HP:0200118

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


athetosis, cerebellar ataxia

Drugs & Therapeutics for Megaloblastic Anemia-1, Finnish Type

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

Genetic Tests for Megaloblastic Anemia-1, Finnish Type

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

id Genetic test Affiliating Genes
1 Megaloblastic Anemia 1, Norwegian Type 24 AMN
2 Megaloblastic Anemia 1, Finnish Type 24 CUBN

Anatomical Context for Megaloblastic Anemia-1, Finnish Type

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

39
Thyroid

Publications for Megaloblastic Anemia-1, Finnish Type

Variations for Megaloblastic Anemia-1, Finnish Type

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

71
id Symbol AA change Variation ID SNP ID
1 AMN p.Thr41Ile VAR_015733 rs119478058
2 CUBN p.Pro1297Leu VAR_025288 rs28939699

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

6 (show top 50) (show all 55)
id Gene Variation Type Significance SNP ID Assembly Location
1 AMN AMN, 1-BP DEL, 14G deletion Pathogenic
2 AMN NM_030943.3(AMN): c.122C> T (p.Thr41Ile) single nucleotide variant Pathogenic rs119478058 GRCh37 Chromosome 14, 103390126: 103390126
3 AMN AMN, IVS3, A-G, -2 single nucleotide variant Pathogenic
4 CUBN NM_001081.3(CUBN): c.3890C> T (p.Pro1297Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121434430 GRCh37 Chromosome 10, 17083159: 17083159
5 CUBN CUBN, IVS6, C-G single nucleotide variant Pathogenic
6 CUBN CUBN, IVS23, G-T, +1 single nucleotide variant Pathogenic
7 CUBN NM_001081.3(CUBN): c.1230+1G> A single nucleotide variant Likely pathogenic rs386833766 GRCh37 Chromosome 10, 17147455: 17147455
8 CUBN NM_001081.3(CUBN): c.1436C> G (p.Ser479Ter) single nucleotide variant Likely pathogenic rs386833767 GRCh37 Chromosome 10, 17145218: 17145218
9 CUBN NM_001081.3(CUBN): c.1526delG (p.Gly509Glufs) deletion Likely pathogenic rs386833768 GRCh37 Chromosome 10, 17145128: 17145128
10 CUBN NM_001081.3(CUBN): c.1530G> A (p.Lys510=) single nucleotide variant Likely pathogenic rs386833769 GRCh37 Chromosome 10, 17145124: 17145124
11 CUBN NM_001081.3(CUBN): c.1838delG (p.Gly613Glufs) deletion Likely pathogenic rs386833770 GRCh37 Chromosome 10, 17130272: 17130272
12 CUBN NM_001081.3(CUBN): c.1865delC (p.Thr622Ilefs) deletion Pathogenic/Likely pathogenic rs386833771 GRCh37 Chromosome 10, 17130245: 17130245
13 CUBN NM_001081.3(CUBN): c.1951C> T (p.Arg651Ter) single nucleotide variant Likely pathogenic rs182512508 GRCh37 Chromosome 10, 17127755: 17127755
14 CUBN NM_001081.3(CUBN): c.2068A> G (p.Ile690Val) single nucleotide variant Likely pathogenic rs386833772 GRCh37 Chromosome 10, 17127638: 17127638
15 CUBN NM_001081.3(CUBN): c.2486C> T (p.Ser829Leu) single nucleotide variant Likely pathogenic rs386833773 GRCh37 Chromosome 10, 17113564: 17113564
16 CUBN NM_001081.3(CUBN): c.250C> T (p.Gln84Ter) single nucleotide variant Likely pathogenic rs386833774 GRCh37 Chromosome 10, 17171122: 17171122
17 CUBN NM_001081.3(CUBN): c.2515_2533del19 (p.Glu839Profs) deletion Likely pathogenic rs386833775 GRCh37 Chromosome 10, 17113517: 17113535
18 CUBN NM_001081.3(CUBN): c.252+1G> A single nucleotide variant Likely pathogenic rs386833776 GRCh37 Chromosome 10, 17171119: 17171119
19 CUBN NM_001081.3(CUBN): c.2614_2615delGA (p.Asp872Leufs) deletion Likely pathogenic rs386833777 GRCh37 Chromosome 10, 17113435: 17113436
20 CUBN NM_001081.3(CUBN): c.2673C> A (p.Cys891Ter) single nucleotide variant Likely pathogenic rs386833778 GRCh37 Chromosome 10, 17110722: 17110722
21 CUBN NM_001081.3(CUBN): c.2949C> A (p.Tyr983Ter) single nucleotide variant Likely pathogenic rs386833779 GRCh37 Chromosome 10, 17110122: 17110122
22 CUBN NM_001081.3(CUBN): c.3056C> G (p.Ser1019Ter) single nucleotide variant Likely pathogenic rs386833780 GRCh37 Chromosome 10, 17107590: 17107590
23 CUBN NM_001081.3(CUBN): c.3096delT (p.Tyr1032Terfs) deletion Likely pathogenic rs386833781 GRCh37 Chromosome 10, 17107550: 17107550
24 CUBN NM_001081.3(CUBN): c.3577T> G (p.Trp1193Gly) single nucleotide variant Likely pathogenic rs386833783 GRCh37 Chromosome 10, 17087101: 17087101
25 CUBN NM_001081.3(CUBN): c.3749C> T (p.Ser1250Phe) single nucleotide variant Likely pathogenic rs386833784 GRCh37 Chromosome 10, 17085906: 17085906
26 CUBN NM_001081.3(CUBN): c.3999C> A (p.Cys1333Ter) single nucleotide variant Likely pathogenic rs386833785 GRCh37 Chromosome 10, 17083050: 17083050
27 CUBN NM_001081.3(CUBN): c.4115C> G (p.Thr1372Arg) single nucleotide variant Likely pathogenic rs386833786 GRCh37 Chromosome 10, 17061885: 17061885
28 CUBN NM_001081.3(CUBN): c.4168G> A (p.Gly1390Ser) single nucleotide variant Likely pathogenic rs386833787 GRCh37 Chromosome 10, 17061832: 17061832
29 CUBN NM_001081.3(CUBN): c.434G> A (p.Gly145Glu) single nucleotide variant Likely pathogenic rs386833788 GRCh37 Chromosome 10, 17165642: 17165642
30 CUBN NM_001081.3(CUBN): c.489G> A (p.Lys163=) single nucleotide variant Likely pathogenic rs386833789 GRCh37 Chromosome 10, 17165587: 17165587
31 CUBN NM_001081.3(CUBN): c.673T> A (p.Cys225Ser) single nucleotide variant Likely pathogenic rs386833790 GRCh37 Chromosome 10, 17157517: 17157517
32 CUBN NM_001081.3(CUBN): c.889C> T (p.Gln297Ter) single nucleotide variant Likely pathogenic rs386833791 GRCh37 Chromosome 10, 17153044: 17153044
33 AMN NM_030943.3(AMN): c.1006+16_1006+30del deletion Likely pathogenic rs386834160 GRCh37 Chromosome 14, 103396439: 103396453
34 AMN NM_030943.3(AMN): c.1006+34_1006+48del deletion Likely pathogenic rs386834161 GRCh37 Chromosome 14, 103396457: 103396471
35 AMN NM_030943.3(AMN): c.1006+36_1006+50del deletion Likely pathogenic rs386834162 GRCh37 Chromosome 14, 103396459: 103396473
36 AMN NM_030943.3(AMN): c.1014_1021delCCTCGGCG (p.Leu339Profs) deletion Likely pathogenic rs386834163 GRCh37 Chromosome 14, 103396509: 103396516
37 AMN NM_030943.3(AMN): c.1170-6C> T single nucleotide variant Likely pathogenic rs386834164 GRCh37 Chromosome 14, 103396737: 103396737
38 AMN NM_030943.3(AMN): c.1253dupA (p.Leu419Alafs) duplication Likely pathogenic rs386834165 GRCh37 Chromosome 14, 103396826: 103396826
39 AMN NM_030943.3(AMN): c.1257+10C> T single nucleotide variant Likely pathogenic rs386834166 GRCh37 Chromosome 14, 103396840: 103396840
40 AMN NM_030943.3(AMN): c.1314_1315delCA (p.His438Glnfs) deletion Likely pathogenic rs386834167 GRCh37 Chromosome 14, 103396969: 103396970
41 AMN NM_030943.3(AMN): c.14delG (p.Gly5Alafs) deletion Likely pathogenic rs386834168 GRCh37 Chromosome 14, 103389039: 103389039
42 AMN NM_030943.3(AMN): c.208-1G> C single nucleotide variant Likely pathogenic rs386834169 GRCh37 Chromosome 14, 103394762: 103394762
43 AMN NM_030943.3(AMN): c.208-2A> G single nucleotide variant Likely pathogenic rs386834170 GRCh37 Chromosome 14, 103394761: 103394761
44 AMN NM_030943.3(AMN): c.295delG (p.Gly99Alafs) deletion Likely pathogenic rs386834171 GRCh37 Chromosome 14, 103394850: 103394850
45 AMN NM_030943.3(AMN): c.43+1G> T single nucleotide variant Likely pathogenic rs386834172 GRCh37 Chromosome 14, 103389069: 103389069
46 AMN NM_030943.3(AMN): c.468dupT (p.Gly157Trpfs) duplication Likely pathogenic rs386834173 GRCh37 Chromosome 14, 103395267: 103395267
47 AMN NM_030943.3(AMN): c.514-34G> A single nucleotide variant Likely pathogenic rs144077391 GRCh37 Chromosome 14, 103395424: 103395424
48 AMN NM_030943.3(AMN): c.663G> A (p.Trp221Ter) single nucleotide variant Likely pathogenic rs386834174 GRCh37 Chromosome 14, 103395776: 103395776
49 AMN NM_030943.3(AMN): c.683_730del48 (p.Gln228_Leu243del) deletion Likely pathogenic rs386834175 GRCh37 Chromosome 14, 103395796: 103395843
50 AMN NM_030943.3(AMN): c.701G> T (p.Cys234Phe) single nucleotide variant Likely pathogenic rs386834176 GRCh37 Chromosome 14, 103395814: 103395814

Expression for Megaloblastic Anemia-1, Finnish Type

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

Pathways for Megaloblastic Anemia-1, Finnish Type

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.87 AMN CUBN
2
Show member pathways
11.69 AMN CUBN
3
Show member pathways
10.94 AMN CUBN
4 9.97 AMN CUBN

GO Terms for Megaloblastic Anemia-1, Finnish Type

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

id Name GO ID Score Top Affiliating Genes
1 endosome GO:0005768 9.4 AMN CUBN
2 apical plasma membrane GO:0016324 9.37 AMN CUBN
3 endosome membrane GO:0010008 9.32 AMN CUBN
4 apical part of cell GO:0045177 9.26 AMN CUBN
5 clathrin-coated pit GO:0005905 9.16 AMN CUBN
6 endocytic vesicle GO:0030139 8.96 AMN CUBN
7 brush border membrane GO:0031526 8.62 AMN CUBN

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

id Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.32 AMN CUBN
2 receptor-mediated endocytosis GO:0006898 9.26 AMN CUBN
3 cobalamin metabolic process GO:0009235 9.16 AMN CUBN
4 high-density lipoprotein particle clearance GO:0034384 8.96 AMN CUBN
5 cobalamin transport GO:0015889 8.62 AMN CUBN

Sources for Megaloblastic Anemia-1, Finnish Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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