MCID: FNC040
MIFTS: 54

Fanconi Bickel Syndrome malady

Neuronal diseases, Liver diseases, Nephrological diseases, Metabolic diseases, Gastrointestinal diseases categories

Summaries for Fanconi Bickel Syndrome

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42NIH Rare Diseases, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 Fanconi bickel syndrome (fbs) is a rare glycogen storage disease characterized by glycogen accumulation in the liver and kidneys; severe renal tubular dysfunction; and impaired glucose and galactose metabolism. signs and symptoms begin in the first few months of life and include failure to thrive, excessive urination (polyuria) and rickets, followed by short stature and hepatosplenomegaly in early childhood. puberty is delayed. fbs is inherited in an autosomal recessive manner and is caused by mutations in the slc2a2 gene. treatment is generally symptomatic. last updated: 12/12/2012

MalaCards: Fanconi Bickel Syndrome, also known as glycogen storage disease xi, is related to adenoma and hepatocellular carcinoma. An important gene associated with Fanconi Bickel Syndrome is SLC2A2 (solute carrier family 2 (facilitated glucose transporter), member 2), and among its related pathways are HIF1Alpha Pathway and Regulation of Glucokinase by Glucokinase Regulatory Protein. The compounds streptozotocin and fructose have been mentioned in the context of this disorder. Affiliated tissues include liver and kidney, and related mouse phenotype homeostasis/metabolism.

Description from OMIM:46 612933,614128,227810

Aliases & Classifications for Fanconi Bickel Syndrome

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42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 44Novoseek, 48Orphanet, 60UMLS, 26ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
glycogen storage disease due to glut2 deficiency:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy
glycogen storage disease due to lactate dehydrogenase m-subunit deficiency:
Inheritance: Autosomal recessive; Age of onset: Childhood


Aliases & Descriptions:

fanconi bickel syndrome 42 20 22
glycogen storage disease xi 42 20 22 46
fanconi-bickel syndrome 46 44
glycogen storage disease due to lactate dehydrogenase m-subunit deficiency 48
fanconi syndrome with intestinal malabsorption and galactose intolerance 42
glycogen storage disease due to lactate dehydrogenase deficiency 48
glycogenosis due to lactate dehydrogenase m-subunit deficiency 48
hepatic glycogenosis with amino aciduria and glucosuria 42
gsd due to lactate dehydrogenase m-subunit deficiency 48
glycogenosis due to lactate dehydrogenase deficiency 48
glycogen storage disease due to glut2 deficiency 48
gsd due to lactate dehydrogenase deficiency 48
lactate dehydrogenase deficiency type a 60
glycogenosis due to glut2 deficiency 48
lactate dehydrogenase a deficiency 48
glycogen storage disease type 11 48
gsd due to glut2 deficiency 48
bickel-fanconi glycogenosis 48
glycogenosis fanconi type 42
ldh-m subunit deficiency 48
glycogen storage disease 60
fanconi-bickel disease 48
glycogenosis type 11 48
glut2 deficiency 42
ldh deficiency 48
gsd type 11 48


External Ids:

ICD10 via Orphanet26 E74.4, E74.0

Related Diseases for Fanconi Bickel Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Fanconi Bickel Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 148)
idRelated DiseaseScoreTop Affiliating Genes
1adenoma31.2G6PC
2hepatocellular carcinoma30.9SLC2A2, F2, G6PC
3hypoglycemia30.9SLC2A2, ABCC8, G6PC
4glycogen storage disease30.3SLC2A2, G6PC
5neonatal diabetes mellitus30.3SLC2A2, ABCC8
6hyperglycemia30.3G6PC, ABCC8, SLC2A2
7diabetes mellitus30.3SLC2A2, ABCC8, G6PC
8obesity30.1SLC2A2, ABCC8
9lactic acidosis30.1G6PC
10hyperinsulinism30.1ABCC8, G6PC
11glycogen storage disease ii11.1
12glycogen storage disease iv11.1
13glycogen storage disease i11.1
14glycogen storage disease iii11.1
15fanconi syndrome11.0
16glycogen storage disease v10.9
17liver disease10.9
18glycogen storage disease vi10.9
19hepatitis10.9
20glycogen storage disease type 1a10.8
21glycogen storage disease type 010.8
22lysosomal storage disease10.7
23glycogen storage disease vii10.7
24glycogen storage disease type 1310.7
25phosphorylase kinase deficiency10.7
26danon disease10.6
27glycogen storage disease xv10.6
28hepatitis a10.6
29neutropenia10.6
30glycogen storage disease ix10.6
31glycogen storage disease type 1210.6
32glycogen storage disease type 0, muscle10.6
33glycogen storage disease, type ixa110.6
34muscle glycogenosis10.6
35glycogen storage disease due to phosphorylase kinase deficiency10.6
36glycogen storage disease viii10.6
37phosphoglycerate mutase deficiency10.6
38glycogen storage disease iiia10.6
39phosphorylase kinase deficiency of liver and muscle, autosomal recessive10.5
40chromosomal disease10.5
41kidney disease10.5
42neuromuscular disease10.5
43glycogen storage disease type 1b10.5
44lethal congenital glycogen storage disease of the heart10.5
45glycogen storage disease due to acid maltase deficiency, adult onset10.5
46hypertrophic cardiomyopathy10.5
47atherosclerosis10.5
48lipid storage disease10.5
49juvenile hereditary hemochromatosis10.5
50glycogen storage disease xii10.5

Graphical network of the top 20 diseases related to Fanconi Bickel Syndrome:



Diseases related to fanconi bickel syndrome

Clinical Features for Fanconi Bickel Syndrome

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46OMIM
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Clinical features from OMIM:

612933,614128,227810

Clinical synopsis from OMIM:

227810

Drugs & Therapeutics for Fanconi Bickel 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 Fanconi Bickel Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Fanconi Bickel Syndrome:

id Genetic test Affiliating Genes
1 Fanconi-Bickel Syndrome20 22 SLC2A2
2 Glycogen Storage Disease Xi20 22 LDHA

Anatomical Context for Fanconi Bickel Syndrome

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32MalaCards
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MalaCards organs/tissues related to Fanconi Bickel Syndrome:

32
Liver, Kidney

Animal Models for Fanconi Bickel Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Fanconi Bickel Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053767.5LDHA, SLC2A2, F2, ABCC8, G6PC

Publications for Fanconi Bickel Syndrome

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Genetic Variations for Fanconi Bickel Syndrome

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Fanconi Bickel Syndrome:

62
id Symbol AA change Variation ID SNP ID
1SLC2A2p.Leu389ProVAR_018651
2SLC2A2p.Pro417LeuVAR_018652
3SLC2A2p.Val423GluVAR_018653rs28928874

Expression for genes affiliated with Fanconi Bickel Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Fanconi Bickel Syndrome

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Pathways for genes affiliated with Fanconi Bickel Syndrome

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51QIAGEN, 53Reactome, 29KEGG, 37NCBI BioSystems Database, 49PharmGKB, 12EMD Millipore
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Compounds for genes affiliated with Fanconi Bickel Syndrome

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44Novoseek, 11DrugBank, 24HMDB, 28IUPHAR
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Compounds related to Fanconi Bickel Syndrome according to GeneCards/GeneDecks:

(show all 20)
idCompoundScoreTop Affiliating Genes
1streptozotocin449.7G6PC, SLC2A2
2fructose44 1110.6SLC2A2, G6PC
3phosphoenolpyruvate44 1110.6G6PC, SLC2A2
42-deoxyglucose44 1110.6SLC2A2, G6PC
5glucose 6-phosphate44 2410.5SLC2A2, G6PC
6galactose449.5G6PC, SLC2A2
7sulfonylurea449.5SLC2A2, ABCC8
8katp449.5SLC2A2, ABCC8
9mannitol44 1110.4SLC2A2, G6PC
10sterol449.4SLC2A2, G6PC
11pyruvate449.2G6PC, SLC2A2, LDHA
12lactate449.1LDHA, F2, G6PC
13glycogen44 249.9G6PC, ABCC8, SLC2A2
14aspartate448.7F2, ABCC8, G6PC
15arginine448.6SLC2A2, ABCC8, G6PC
16adp44 28 2410.4G6PC, ABCC8, F2
17leucine448.4LDHA, SLC2A2, ABCC8, G6PC
18atp44 289.4LDHA, SLC2A2, ABCC8, G6PC
19glucose448.4G6PC, ABCC8, SLC2A2, LDHA
20oxygen44 249.2LDHA, ABCC8, G6PC

GO Terms for genes affiliated with Fanconi Bickel Syndrome

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16Gene Ontology
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Biological processes related to Fanconi Bickel Syndrome according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1hexose transportGO:0086459.5SLC2A2, G6PC
2glucose transportGO:0157589.4SLC2A2, G6PC
3regulation of gene expressionGO:0104689.4G6PC, F2
4energy reserve metabolic processGO:0061129.2SLC2A2, ABCC8
5regulation of insulin secretionGO:0507968.9SLC2A2, ABCC8
6carbohydrate metabolic processGO:0059758.8SLC2A2, ABCC8, G6PC
7transmembrane transportGO:0550858.5G6PC, ABCC8, SLC2A2
8small molecule metabolic processGO:0442818.2G6PC, ABCC8, SLC2A2, LDHA

Products for genes affiliated with Fanconi Bickel Syndrome

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  • Antibodies
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Sources for Fanconi Bickel 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