IGS
MCID: IMR001
MIFTS: 31

Imerslund-Grasbeck Syndrome (IGS) malady

Gastrointestinal, Endocrine, Metabolic, Genetic categories

Summaries for Imerslund-Grasbeck Syndrome

Sources:
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 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, thyroid and skin.

Aliases & Classifications for Imerslund-Grasbeck Syndrome

Sources:
43NIH Rare Diseases, 45Novoseek, 61UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic
Anatomical: Gastrointestinal, Endocrine, Metabolic


Aliases & Descriptions:

imerslund-grasbeck syndrome 43 45
megaloblastic anemia due to inborn errors of metabolism 61
thyroid hormone plasma membrane transport defect 61
defect of enterocyte intrinsic factor receptor 43
enterocyte cobalamin malabsorption 43
familial megaloblastic anemia 43
gräsbeck-imerslund disease 43
igs 43


Related Diseases for Imerslund-Grasbeck Syndrome

Sources:
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 402)
idRelated DiseaseScoreTop Affiliating Genes
1megaloblastic anemia30.5CUBN
2asthma11.0
3atopic dermatitis10.8
4atopy10.7
5allergic rhinitis10.6
6thyroid hormone plasma membrane transport defect10.6
7allergic asthma10.6
8n syndrome10.6
9intrinsic factor deficiency10.5
10megaloblastic anemia 110.5
11megaloblastic anemia-1, norwegian type10.5
12aspergillosis10.5
13urticaria10.5
14allergic bronchopulmonary aspergillosis10.5
15bullous pemphigoid10.5
16allergic conjunctivitis10.4
17patent foramen ovale10.4
18glanzmann's thrombasthenia10.4
19takayasu's arteritis10.4
20atrioventricular septal defect10.4
21congenital diaphragmatic hernia10.4
22atrial heart septal defect10.4
23urea cycle disorder10.4
24hereditary folate malabsorption10.4
25zap70-related severe combined immunodeficiency10.4
26acro-pectoro-renal field defect10.4
27ankle defects short stature10.4
28axial mesodermal dysplasia spectrum10.4
29branchial arch defects10.4
30cardioskeletal syndrome kuwaiti type10.4
31sacral defect with anterior meningocele10.4
32caudal regression syndrome10.4
33chylomicron retention disease10.4
34x-linked creatine deficiency10.4
35cystinosis, ocular nonnephropathic10.4
36hmg coa lyase deficiency10.4
37defective apolipoprotein b-10010.4
38diaphragmatic hernia upper limb defects10.4
39peroxisome disorders10.4
40heart defect, tongue hamartoma and polysyndactyly10.4
41hermansky pudlak syndrome 210.4
42heterotaxy10.4
43red cell phospholipid defect with hemolysis10.4
44hyperthermia induced defects10.4
45lateral body wall defect10.4
46laterality defects dominant10.4
47limb reduction defect10.4
48overgrowth radial ray defect arthrogryposis10.4
49paraomphalocele10.4
50reductional transverse limb defects10.4

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



Diseases related to imerslund-grasbeck syndrome

Clinical Features for Imerslund-Grasbeck Syndrome

Drugs & Therapeutics for Imerslund-Grasbeck Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Imerslund-Grasbeck Syndrome

Drug clinical trials:

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Search CenterWatch for Imerslund-Grasbeck Syndrome

Genetic Tests for Imerslund-Grasbeck Syndrome

Anatomical Context for Imerslund-Grasbeck Syndrome

Sources:
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

Sources:
28inGenious Targeting Laboratory
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Publications for Imerslund-Grasbeck Syndrome

Sources:
51PubMed
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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

Genetic Variations for Imerslund-Grasbeck Syndrome

Expression for genes affiliated with Imerslund-Grasbeck Syndrome

Sources:
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

Sources:
54Reactome
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Pathways related to Imerslund-Grasbeck Syndrome according to GeneCards/GeneDecks:

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

Compounds for genes affiliated with Imerslund-Grasbeck Syndrome

Sources:
50PharmGKB, 11DrugBank, 24HMDB, 45Novoseek
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Compounds related to Imerslund-Grasbeck Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1cyanocobalamin50 11 2411.3CUBN, AMN
2hydroxocobalamin45 1110.0CUBN, AMN

GO Terms for genes affiliated with Imerslund-Grasbeck Syndrome

Sources:
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

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet