IGS
MCID: IMR001
MIFTS: 37

Imerslund-Grasbeck Syndrome (IGS) malady

Genetic diseases, Rare diseases, Gastrointestinal diseases, Endocrine diseases categories

Summaries for Imerslund-Grasbeck Syndrome

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22Genetics Home Reference, 44NIH Rare Diseases, 34MalaCards
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NIH Rare Diseases:44 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:22 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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44NIH Rare Diseases, 22Genetics Home Reference, 46Novoseek, 21GeneTests, 63UMLS
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Classifications:



Aliases & Descriptions:

imerslund-grasbeck syndrome 44 22 46
megaloblastic anemia 1 44 21 22
defect of enterocyte intrinsic factor receptor 44 22
enterocyte cobalamin malabsorption 44 22
pernicious anemia, juvenile, due to selective intestinal malabsorption of vitamin b12, with proteinuria 44
juvenile pernicious anemia with proteinuria due to selective intestinal malabsorption of vitamin b12 22
megaloblastic anemia due to inborn errors of metabolism 63
selective cobalamin malabsorption with proteinuria 44
thyroid hormone plasma membrane transport defect 63
familial megaloblastic anemia 44
imerslund-gräsbeck syndrome 22
imerslund-grÓ“sbeck syndrome 22
gräsbeck-imerslund disease 44
igs 44


Related Diseases for Imerslund-Grasbeck Syndrome

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18GeneCards, 19GeneDecks
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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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Genetic Tests for Imerslund-Grasbeck Syndrome

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21GeneTests
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Genetic tests related to Imerslund-Grasbeck Syndrome:

id Genetic test Affiliating Genes
1 Megaloblastic Anemia 121 CUBN

Anatomical Context for Imerslund-Grasbeck Syndrome

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34MalaCards
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MalaCards organs/tissues related to Imerslund-Grasbeck Syndrome:

34
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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53PubMed
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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, 16Gene 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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51PathCards, 56Reactome, 39NCBI 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)39
molybdenum cofactor biosynthesis39
coenzyme A biosynthesis39
thiamin salvage III39
alanine biosynthesis III39
thio-molybdenum cofactor biosynthesis39
biotin-carboxyl carrier protein assembly39
9.1CUBN, AMN
2
Show member pathways
9.1CUBN, AMN

Compounds for genes affiliated with Imerslund-Grasbeck Syndrome

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52PharmGKB, 25HMDB, 12DrugBank, 46Novoseek
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Compounds related to Imerslund-Grasbeck Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1cyanocobalamin52 25 1211.1CUBN, AMN
2hydroxocobalamin46 129.8CUBN, AMN

GO Terms for genes affiliated with Imerslund-Grasbeck Syndrome

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17Gene 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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet