MCID: FNC040
MIFTS: 51

Fanconi Bickel Syndrome malady

Neuronal, Liver, Nephrological, Metabolic, Gastrointestinal categories

Summaries for Fanconi Bickel Syndrome

Sources:
43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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 hypoglycemia. 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 kidney and liver, and related mouse phenotype homeostasis/metabolism.

Description from OMIM:47 612933,614128,227810

Aliases & Classifications for Fanconi Bickel Syndrome

Sources:
61UMLS, 43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 49Orphanet, 45Novoseek, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal, Liver, Nephrological, Metabolic, Gastrointestinal


Characteristics (Orphanet epidemiological data):

49
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 43 20 22
glycogen storage disease xi 43 20 22 47
fanconi-bickel syndrome 47 45
glycogen storage disease due to lactate dehydrogenase m-subunit deficiency 49
fanconi syndrome with intestinal malabsorption and galactose intolerance 43
glycogen storage disease due to lactate dehydrogenase deficiency 49
glycogenosis due to lactate dehydrogenase m-subunit deficiency 49
hepatic glycogenosis with amino aciduria and glucosuria 43
gsd due to lactate dehydrogenase m-subunit deficiency 49
glycogenosis due to lactate dehydrogenase deficiency 49
glycogen storage disease due to glut2 deficiency 49
gsd due to lactate dehydrogenase deficiency 49
lactate dehydrogenase deficiency type a 61
glycogenosis due to glut2 deficiency 49
lactate dehydrogenase a deficiency 49
glycogen storage disease type 11 49
bickel-fanconi glycogenosis 49
gsd due to glut2 deficiency 49
glycogenosis fanconi type 43
ldh-m subunit deficiency 49
glycogen storage disease 61
fanconi-bickel disease 49
glycogenosis type 11 49
glut2 deficiency 43
ldh deficiency 49
gsd type 11 49


External Ids:

ICD10 via Orphanet26 E74.4, E74.0
SNOMED-CT via Orphanet58 237982007

Related Diseases for Fanconi Bickel Syndrome

Sources:
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 132)
idRelated DiseaseScoreTop Affiliating Genes
1adenoma31.2G6PC
2hypoglycemia30.9SLC2A2, ABCC8, G6PC
3neonatal diabetes mellitus30.4SLC2A2, ABCC8
4insulin resistance30.2ABCC8, G6PC
5hyperinsulinism30.2ABCC8, G6PC
6glycogen storage disease i11.3
7glycogen storage disease v11.1
8fanconi syndrome11.1
9glycogen storage disease iv11.0
10glycogen storage disease vi11.0
11glycogen storage disease ii11.0
12glycogen storage disease iii11.0
13glycogen storage disease type 1a10.9
14glycogen storage disease iiia10.8
15glycogen storage disease type 010.7
16n syndrome10.7
17glycogen storage disease vii10.7
18hepatocellular adenoma10.7
19danon disease10.7
20phosphorylase kinase deficiency10.7
21glycogen storage disease type 1310.7
22glycogen storage disease xv10.7
23phosphorylase kinase deficiency of liver and muscle, autosomal recessive10.7
24glycogen storage disease type 0, muscle10.6
25muscle glycogenosis10.6
26lip disease10.6
27glycogen storage disease viii10.6
28glycogen storage disease type 1210.6
29glycogen storage disease, type ixa110.6
30phosphoglycerate mutase deficiency10.6
31glycogen storage disease type 1b10.5
32lethal congenital glycogen storage disease of the heart10.5
33gout10.5
34crohn's disease10.5
35hypertrophic cardiomyopathy10.5
36atherosclerosis10.5
37glycogen storage disease due to acid maltase deficiency, adult onset10.5
38nephrolithiasis10.4
39brain disease10.4
40juvenile hereditary hemochromatosis10.4
41glycogen storage disease xii10.4
42nutrition disease10.4
43glycogen storage disease due to acid maltase deficiency, juvenile onset10.4
44glycogen storage disease due to acid maltase deficiency, infantile onset10.4
45dent's disease10.4
46glycogen storage disease type 1410.4
47glycogen storage disease iiib10.4
48glycogen storage disease ic10.4
49glycogen storage disease ixc10.4
50niemann-pick disease10.3

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



Diseases related to fanconi bickel syndrome

Clinical Features for Fanconi Bickel Syndrome

Sources:
47OMIM
See all sources

Clinical features from OMIM:

612933,614128,227810

Clinical synopsis from OMIM:

227810

Drugs & Therapeutics for Fanconi Bickel Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Fanconi Bickel Syndrome

Drug clinical trials:

Search ClinicalTrials for Fanconi Bickel Syndrome

Search NIH Clinical Center for Fanconi Bickel Syndrome

Search CenterWatch for Fanconi Bickel Syndrome

Genetic Tests for Fanconi Bickel Syndrome

Sources:
20GeneTests, 22GTR
See all sources

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

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Fanconi Bickel Syndrome:

33
Kidney, Liver

Animal Models for Fanconi Bickel Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Fanconi Bickel Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053767.5LDHA, SLC2A2, F2, ABCC8, G6PC

Publications for Fanconi Bickel Syndrome

Sources:
51PubMed
See all sources

Articles related to Fanconi Bickel Syndrome:

(show all 41)
idTitleAuthorsYear
1
Fanconi-Bickel syndrome versus osteogenesis imperfeeta: An Iranian case with a novel mutation in glucose transporter 2 gene, and review of literature. (23901198)
2013
2
Fanconi- Bickel Syndrome: mutation in an Indian patient. (21972075)
2012
3
A new mutation of Fanconi-Bickel syndrome with liver failure and pseudotumour cerebri. (23271022)
2012
4
Fanconi-Bickel syndrome as an example of marked allelic heterogeneity. (24175243)
2012
5
Fanconi-Bickel syndrome: GLUT2 mutations associated with a mild phenotype. (22214819)
2012
6
Transient neonatal diabetes as a presentation of Fanconi- Bickel Syndrome. (23456528)
2012
7
Fanconi-Bickel syndrome and autosomal recessive proximal tubulopathy with hypercalciuria (ARPTH) are allelic variants caused by GLUT2 mutations. (22865906)
2012
8
Fanconi-Bickel syndrome. (21327337)
2012
9
Mutation analysis of the GLUT2 gene in three unrelated Egyptian families with Fanconi-Bickel syndrome: revisited gene atlas for renumbering. (22350464)
2012
10
Hypophosphatemic rickets: presenting features of fanconi-bickel syndrome. (22937383)
2011
11
Fanconi-Bickel syndrome and fertility. (21910231)
2011
12
Two cases of Fanconi-Bickel syndrome: first report from China with novel mutations of SLC2A2 gene. (22145468)
2011
13
Successful pregnancy in the patient with Fanconi-Bickel syndrome undergoing daily hemodialysis. (21739588)
2011
14
Fanconi-Bickel syndrome: report of life history and successful pregnancy in an affected patient. (21271664)
2011
15
Fanconi-Bickel syndrome in a 3-year-old Indian boy with a novel mutation in the GLUT2 gene. (21625891)
2011
16
A novel mutation of the GLUT2 gene in a Turkish patient with Fanconi-Bickel syndrome. (19480329)
2009
17
Fanconi-Bickel syndrome--two cases report. (18626436)
2008
18
Hyperglycemia and hypoinsulinemia in patients with Fanconi-Bickel syndrome. (18717244)
2008
19
Fanconi-Bickel syndrome. (17413201)
2007
20
Glucose metabolism and insulin secretion in a patient with ABCC8 mutation and Fanconi-Bickel syndrome caused by maternal isodisomy of chromosome 3. (17539904)
2007
21
Bilateral nuclear cataracts as the first neonatal sign of Fanconi-Bickel syndrome. (16906471)
2006
22
Fanconi-Bickel syndrome in three Turkish patients with different homozygous mutations. (16052858)
2005
23
A novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome detected by neonatal screening for galactosaemia. (15243984)
2004
24
The Fanconi-Bickel syndrome: a case of neonatal onset. (15116130)
2004
25
No mutation in the SLC2A2 ( GLUT2) gene in a Turkish infant with Fanconi-Bickel syndrome. (12700970)
2003
26
A novel mutation (N32K) of GLUT2 gene in a Japanese patient with Fanconi-Bickel syndrome. (12220445)
2002
27
The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome. (11810292)
2002
28
A secondary respiratory chain defect in a patient with Fanconi-Bickel syndrome. (12408187)
2002
29
Fanconi-Bickel syndrome--a congenital defect of facilitative glucose transport. (11949937)
2002
30
Identification of a novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome presenting with neonatal diabetes mellitus and galactosaemia. (12029458)
2002
31
Special feature: pathological case of the month. Glycogen storage disease with renal tubular dysfunction (type XI, Fanconi-Bickel syndrome). (11074862)
2000
32
Mutation analysis of two Japanese patients with Fanconi-Bickel syndrome. (10697967)
2000
33
A newly recognized missense mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome. (11079206)
2000
34
Mutation analysis of the GLUT2 gene in patients with Fanconi-Bickel syndrome. (11044475)
2000
35
Fanconi-Bickel syndrome--a congenital defect of the liver-type facilitative glucose transporter. SSIEM Award. Society for the Study of Inborn Errors of Metabolism. (9686354)
1998
36
Fanconi-Bickel syndrome--the original patient and his natural history, historical steps leading to the primary defect, and a review of the literature. (9809815)
1998
37
Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome. (9354798)
1997
38
Fanconi-Bickel syndrome presenting in neonatal screening for galactosaemia. (9266402)
1997
39
Catch-up growth in Fanconi-Bickel syndrome with uncooked cornstarch. (7564233)
1995
40
Diabetes-like renal glomerular disease in Fanconi-Bickel syndrome. (7632512)
1995
41
Fanconi-Bickel syndrome. (3153325)
1987

Genetic Variations for Fanconi Bickel Syndrome

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Fanconi Bickel Syndrome:

63
id Symbol AA change Variation SNP ID
1SLC2A2p.Leu389ProVAR_018651
2SLC2A2p.Pro417LeuVAR_018652
3SLC2A2p.Val423GluVAR_018653rs28928874

Expression for genes affiliated with Fanconi Bickel Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Fanconi Bickel Syndrome

Search GEO for disease gene expression data for Fanconi Bickel Syndrome.

Pathways for genes affiliated with Fanconi Bickel Syndrome

Sources:
52QIAGEN, 54Reactome, 30KEGG, 38NCBI BioSystems Database, 50PharmGKB, 12EMD Millipore
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Compounds for genes affiliated with Fanconi Bickel Syndrome

Sources:
45Novoseek, 11DrugBank, 24HMDB, 29IUPHAR
See all sources

Compounds related to Fanconi Bickel Syndrome according to GeneCards/GeneDecks:

(show all 20)
idCompoundScoreTop Affiliating Genes
1streptozotocin459.7G6PC, SLC2A2
2fructose45 1110.6SLC2A2, G6PC
3phosphoenolpyruvate45 1110.6G6PC, SLC2A2
42-deoxyglucose45 1110.6SLC2A2, G6PC
5glucose 6-phosphate45 2410.5SLC2A2, G6PC
6galactose459.5G6PC, SLC2A2
7sulfonylurea459.5SLC2A2, ABCC8
8katp459.5SLC2A2, ABCC8
9mannitol45 1110.4SLC2A2, G6PC
10sterol459.4SLC2A2, G6PC
11pyruvate459.2G6PC, SLC2A2, LDHA
12lactate459.1LDHA, F2, G6PC
13glycogen45 249.9G6PC, ABCC8, SLC2A2
14aspartate458.7F2, ABCC8, G6PC
15arginine458.6SLC2A2, ABCC8, G6PC
16adp45 29 2410.4G6PC, ABCC8, F2
17leucine458.4LDHA, SLC2A2, ABCC8, G6PC
18atp45 299.4LDHA, SLC2A2, ABCC8, G6PC
19glucose458.4G6PC, ABCC8, SLC2A2, LDHA
20oxygen45 249.2LDHA, ABCC8, G6PC

GO Terms for genes affiliated with Fanconi Bickel Syndrome

Sources:
16Gene Ontology
See all sources

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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Sources for Fanconi Bickel 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