IGS
MCID: IMR001
MIFTS: 37

Imerslund-Grasbeck Syndrome (IGS) malady

Genetic diseases, Rare diseases, Gastrointestinal diseases, Endocrine diseases categories
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Summaries for Imerslund-Grasbeck Syndrome

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21Genetics Home Reference, 43NIH Rare Diseases, 33MalaCards
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NIH Rare Diseases:43 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

MalaCards: Imerslund-Grasbeck Syndrome, also known as megaloblastic anemia 1, is related to megaloblastic anemia and hyper ige syndrome. An important gene associated with Imerslund-Grasbeck Syndrome is CUBN (cubilin (intrinsic factor-cobalamin receptor)), and among its related pathways are Defective BTD causes biotidinase deficiency and Lipoprotein metabolism. The compounds cyanocobalamin and hydroxocobalamin have been mentioned in the context of this disorder. Affiliated tissues include kidney, thyroid and skin.

Genetics Home Reference:21 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.

Aliases & Classifications for Imerslund-Grasbeck Syndrome

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43NIH Rare Diseases, 21Genetics Home Reference, 45Novoseek, 20GeneTests, 62UMLS
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Classifications:



Aliases & Descriptions:

imerslund-grasbeck syndrome 43 21 45
megaloblastic anemia 1 43 20 21
defect of enterocyte intrinsic factor receptor 43 21
enterocyte cobalamin malabsorption 43 21
pernicious anemia, juvenile, due to selective intestinal malabsorption of vitamin b12, with proteinuria 43
juvenile pernicious anemia with proteinuria due to selective intestinal malabsorption of vitamin b12 21
megaloblastic anemia due to inborn errors of metabolism 62
selective cobalamin malabsorption with proteinuria 43
thyroid hormone plasma membrane transport defect 62
familial megaloblastic anemia 43
imerslund-gräsbeck syndrome 21
imerslund-grӓsbeck syndrome 21
gräsbeck-imerslund disease 43
igs 43


Related Diseases for Imerslund-Grasbeck Syndrome

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Imerslund-Grasbeck Syndrome:



Diseases related to imerslund-grasbeck syndrome

Symptoms for Imerslund-Grasbeck Syndrome

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Drugs & Therapeutics for Imerslund-Grasbeck Syndrome

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Imerslund-Grasbeck Syndrome

Search NIH Clinical Center for Imerslund-Grasbeck Syndrome

Genetic Tests for Imerslund-Grasbeck Syndrome

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20GeneTests
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Genetic tests related to Imerslund-Grasbeck Syndrome:

id Genetic test Affiliating Genes
1 Megaloblastic Anemia 120 CUBN

Anatomical Context for Imerslund-Grasbeck Syndrome

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33MalaCards
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MalaCards organs/tissues related to Imerslund-Grasbeck Syndrome:

33
Kidney, Thyroid, Skin

Animal Models for Imerslund-Grasbeck Syndrome or affiliated genes

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Publications for Imerslund-Grasbeck Syndrome

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52PubMed
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Articles related to Imerslund-Grasbeck Syndrome:

(show all 15)
idTitleAuthorsYear
1
A long-term follow-up of an Imerslund-Grasbeck syndrome patient with proteinuria. (23364648)
2013
2
Reversible skin hyperpigmentation in Imerslund-Grasbeck syndrome. (24222293)
2013
3
Imerslund-Grasbeck syndrome: new mutation in amnionless. (22631584)
2012
4
Luminal expression of cubilin is impaired in Imerslund-Grasbeck syndrome with compound AMN mutations in intron 3 and exon 7. (21750092)
2011
5
Unusual cause of childhood anemia: Imerslund Grasbeck syndrome. (22219566)
2011
6
Marathon of eponyms: 9 Imerslund-Grasbeck syndrome (Juvenile pernicious anaemia). (20374509)
2010
7
Imerslund-Grasbeck syndrome: association with diabetes mellitus. (19346573)
2009
8
Imerslund-Grasbeck syndrome associated with recurrent aphthous stomatitis and defective neutrophil function. (17114957)
2006
9
A case report of 46,XX,del(21)(q22) de novo deletion associated with Imerslund-Grasbeck syndrome. (9001810)
1996
10
Imerslund-Grasbeck syndrome in a Chinese family with distinct skin lesions refractory to vitamin B12. (7962612)
1994
11
Reversal of severe neurological abnormalities after vitamin B12 replacement in the Imerslund-Grasbeck syndrome. (1940989)
1991
12
Imerslund-Grasbeck syndrome in a Libyan boy. (2475066)
1989
13
Megaloblastic anemia characterized by microcytosis: Imerslund-Grasbeck syndrome with coexistent alpha-thalassemia. (3368285)
1988
14
Absent ileal uptake of IF-bound vitamin B12 in vivo in the Imerslund-Grasbeck syndrome (familial vitamin B12 malabsorption with proteinuria). (3972280)
1985
15
Failure to thrive associated with the Imerslund-Grasbeck syndrome. (7301700)
1981

Variations for Imerslund-Grasbeck Syndrome

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Imerslund-Grasbeck Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1CUBNNM_001081.3(CUBN): c.3890C> T (p.Pro1297Leu)single nucleotide variantLikely pathogenic, Pathogenicrs121434430GRCh37Chr 10, 17083159: 17083159

Expression for genes affiliated with Imerslund-Grasbeck Syndrome

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Imerslund-Grasbeck Syndrome

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Pathways for genes affiliated with Imerslund-Grasbeck Syndrome

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50PathCards, 55Reactome, 38NCBI BioSystems Database
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Pathways related to Imerslund-Grasbeck Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
flavin biosynthesis IV (mammalian)38
molybdenum cofactor biosynthesis38
coenzyme A biosynthesis38
thiamin salvage III38
alanine biosynthesis III38
thio-molybdenum cofactor biosynthesis38
biotin-carboxyl carrier protein assembly38
9.1CUBN, AMN
2
Show member pathways
9.1CUBN, AMN

Compounds for genes affiliated with Imerslund-Grasbeck Syndrome

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51PharmGKB, 24HMDB, 11DrugBank, 45Novoseek
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Compounds related to Imerslund-Grasbeck Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1cyanocobalamin51 24 1111.1CUBN, AMN
2hydroxocobalamin45 119.8CUBN, AMN

GO Terms for genes affiliated with Imerslund-Grasbeck Syndrome

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16Gene Ontology
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Cellular components related to Imerslund-Grasbeck Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1apical plasma membraneGO:0163249.1CUBN, AMN
2endocytic vesicleGO:0301399.0CUBN, AMN
3endosome membraneGO:0100088.8CUBN, AMN

Biological processes related to Imerslund-Grasbeck Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cobalamin transportGO:0158899.2CUBN, AMN
2cobalamin metabolic processGO:0092359.2CUBN, AMN
3lipoprotein metabolic processGO:0421579.1CUBN, AMN
4vitamin metabolic processGO:0067669.1CUBN, AMN
5receptor-mediated endocytosisGO:0068989.0AMN, CUBN
6water-soluble vitamin metabolic processGO:0067678.8CUBN, AMN

Products for genes affiliated with Imerslund-Grasbeck Syndrome

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Sources for Imerslund-Grasbeck Syndrome

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet