IGS
MCID: IMR001
MIFTS: 29

Imerslund-Grasbeck Syndrome (IGS) malady

Gastrointestinal diseases, Endocrine diseases, Metabolic diseases, Genetic diseases categories

Summaries for Imerslund-Grasbeck Syndrome

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42NIH Rare Diseases, 32MalaCards
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NIH Rare Diseases:42 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 due to inborn errors of metabolism, is related to megaloblastic anemia and asthma. An important gene associated with Imerslund-Grasbeck Syndrome is CUBN (cubilin (intrinsic factor-cobalamin receptor)), and among its related pathways are Metabolism of vitamins and cofactors and Lipoprotein metabolism. The compounds cyanocobalamin and hydroxocobalamin have been mentioned in the context of this disorder. Affiliated tissues include kidney and thyroid.

Aliases & Classifications for Imerslund-Grasbeck Syndrome

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42NIH Rare Diseases, 44Novoseek, 60UMLS
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Classifications:



Aliases & Descriptions:

imerslund-grasbeck syndrome 42 44
megaloblastic anemia due to inborn errors of metabolism 60
thyroid hormone plasma membrane transport defect 60
defect of enterocyte intrinsic factor receptor 42
enterocyte cobalamin malabsorption 42
familial megaloblastic anemia 42
gräsbeck-imerslund disease 42
igs 42


Related Diseases for Imerslund-Grasbeck Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Imerslund-Grasbeck Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 467)
idRelated DiseaseScoreTop Affiliating Genes
1megaloblastic anemia30.4CUBN
2asthma10.9
3dermatitis10.8
4atopic dermatitis10.8
5rhinitis10.6
6food allergy10.6
7thyroid hormone plasma membrane transport defect10.6
8allergic rhinitis10.6
9allergic asthma10.6
10eosinophilia10.5
11intrinsic factor deficiency10.5
12megaloblastic anemia 110.5
13megaloblastic anemia-1, norwegian type10.5
14leukemia10.5
15aspergillosis10.5
16urticaria10.5
17proteinuria10.5
18allergic bronchopulmonary aspergillosis10.5
19conjunctivitis10.4
20autosomal dominant hyper ige syndrome10.4
21bullous pemphigoid10.4
22myeloma10.4
23allergic conjunctivitis10.4
24egg allergy10.4
25patent foramen ovale10.4
26glanzmann's thrombasthenia10.4
27takayasu's arteritis10.4
28atrioventricular septal defect10.4
29congenital diaphragmatic hernia10.4
30atrial heart septal defect10.4
31congenital heart defect10.4
32urea cycle disorder10.4
33hereditary folate malabsorption10.4
34zap70-related severe combined immunodeficiency10.4
35acro-pectoro-renal field defect10.4
36ankle defects short stature10.4
37axial mesodermal dysplasia spectrum10.4
38branchial arch defects10.4
39cardioskeletal syndrome kuwaiti type10.4
40sacral defect with anterior meningocele10.4
41caudal regression syndrome10.4
42chylomicron retention disease10.4
43x-linked creatine deficiency10.4
44cystinosis, ocular nonnephropathic10.4
45hmg coa lyase deficiency10.4
46defective apolipoprotein b-10010.4
47diaphragmatic hernia upper limb defects10.4
48peroxisome disorders10.4
49heart defect, tongue hamartoma and polysyndactyly10.4
50hermansky pudlak syndrome 210.4

Graphical network of the top 20 diseases related to Imerslund-Grasbeck Syndrome:



Diseases related to imerslund-grasbeck syndrome

Clinical Features for Imerslund-Grasbeck Syndrome

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Drugs & Therapeutics for Imerslund-Grasbeck Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Imerslund-Grasbeck Syndrome

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Anatomical Context for Imerslund-Grasbeck Syndrome

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32MalaCards
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MalaCards organs/tissues related to Imerslund-Grasbeck Syndrome:

32
Kidney, Thyroid

Animal Models for Imerslund-Grasbeck Syndrome or affiliated genes

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Publications for Imerslund-Grasbeck Syndrome

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Genetic Variations for Imerslund-Grasbeck Syndrome

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Expression for genes affiliated with Imerslund-Grasbeck Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Imerslund-Grasbeck Syndrome

Search GEO for disease gene expression data for Imerslund-Grasbeck Syndrome.

Pathways for genes affiliated with Imerslund-Grasbeck Syndrome

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53Reactome
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Pathways related to Imerslund-Grasbeck Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
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9.3CUBN, AMN
2
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9.3CUBN, AMN
39.3CUBN, AMN

Compounds for genes affiliated with Imerslund-Grasbeck Syndrome

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49PharmGKB, 11DrugBank, 24HMDB, 44Novoseek
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Compounds related to Imerslund-Grasbeck Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1cyanocobalamin49 11 2411.3CUBN, AMN
2hydroxocobalamin44 1110.0CUBN, 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
1endosome membraneGO:0100089.3CUBN, AMN

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

idNameGO IDScoreTop Affiliating Genes
1cobalamin metabolic processGO:0092359.3CUBN, AMN
2vitamin metabolic processGO:0067669.3CUBN, AMN
3lipoprotein metabolic processGO:0421579.2CUBN, AMN
4water-soluble vitamin metabolic processGO:0067679.0CUBN, AMN

Products for genes affiliated with Imerslund-Grasbeck Syndrome

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Sources for Imerslund-Grasbeck Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet