MCID: FNC009
MIFTS: 52

Fanconi-Bickel Syndrome malady

Genetic diseases, Rare diseases, Liver diseases, Nephrological diseases, Metabolic diseases, Gastrointestinal diseases categories

Aliases & Classifications for Fanconi-Bickel Syndrome

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Sources:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 20GeneTests, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 26ICD10 via Orphanet
See all sources

Fanconi-Bickel Syndrome, Aliases & Descriptions:

Name: Fanconi-Bickel Syndrome 45 10 43 60
Glycogen Storage Disease Xi 45 10 41 20
Fanconi-Bickel Disease 41 20 47 22
Glycogen Storage Disease Due to Glut2 Deficiency 41 47
Lactate Dehydrogenase Deficiency Type a 41 60
Glycogenosis Due to Glut2 Deficiency 41 47
Bickel-Fanconi Glycogenosis 41 47
Gsd Due to Glut2 Deficiency 41 47
Fanconi Syndrome with Intestinal Malabsorption and Galactose Intolerance 41
 
Hepatic Glycogenosis with Amino Aciduria and Glucosuria 41
Hepatorenal Glycogenosis with Renal Fanconi Syndrome 41
Glycogenosis with Glucoaminophosphaturia 60
Lactate Dehydrogenase a Deficiency 41
Glycogen Storage Disease Type 11 22
Glycogenosis Fanconi Type 41
Pseudo-Phlorizin Diabetes 41
Fanconi Bickel Syndrome 41
Glut2 Deficiency 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
fanconi-bickel disease:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal


External Ids:

Orphanet47 2088
ICD10 via Orphanet26 E74.0

Summaries for Fanconi-Bickel Syndrome

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OMIM:45 Fanconi-Bickel syndrome is a rare but well-defined clinical entity, inherited in an autosomal recessive mode and... (227810) more...

MalaCards based summary: Fanconi-Bickel Syndrome, also known as glycogen storage disease xi, is related to neonatal diabetes mellitus and glycogen storage disease, and has symptoms including autosomal recessive inheritance, renal tubular dysfunction and decreased subcutaneous fat. 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 MPS VI - Maroteaux-Lamy syndrome. The compounds streptozotocin and fructose have been mentioned in the context of this disorder. Affiliated tissues include liver and kidney, and related mouse phenotypes are liver/biliary system and mortality/aging.

NIH Rare Diseases:41 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

Description from OMIM:45 612933

Related Diseases for Fanconi-Bickel Syndrome

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



Diseases related to fanconi-bickel syndrome

Symptoms for Fanconi-Bickel Syndrome

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Symptoms by clinical synopsis from OMIM:

227810

Clinical features from OMIM:

227810,612933

HPO human phenotypes related to Fanconi-Bickel Syndrome:

(show all 30)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 renal tubular dysfunction HP:0000124
3 decreased subcutaneous fat HP:0001002
4 global developmental delay HP:0001263
5 failure to thrive HP:0001508
6 malabsorption HP:0002024
7 hypophosphatemia HP:0002148
8 osteomalacia HP:0002749
9 hypokalemia HP:0002900
10 generalized aminoaciduria HP:0002909
11 glycosuria HP:0003076
12 hyperphosphaturia HP:0003109
13 elevated alkaline phosphatase HP:0003155
14 abdominal distention HP:0003270
15 hypouricemia HP:0003537
16 poor appetite HP:0004396
17 impairment of galactose metabolism HP:0004915
18 chronic acidosis HP:0012468
19 renal insufficiency HP:0000083
20 rigidity HP:0002063
21 increased serum lactate HP:0002151
22 myoglobinuria HP:0002913
23 rhabdomyolysis HP:0003201
24 elevated serum creatine phosphokinase HP:0003236
25 myalgia HP:0003326
26 muscle cramps HP:0003394
27 increased serum pyruvate HP:0003542
28 exercise intolerance HP:0003546
29 muscle stiffness HP:0003552
30 juvenile onset HP:0003621

Drugs & Therapeutics for Fanconi-Bickel Syndrome

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Drug clinical trials:

Search ClinicalTrials for Fanconi-Bickel Syndrome

Search NIH Clinical Center for Fanconi-Bickel Syndrome

Genetic Tests for Fanconi-Bickel Syndrome

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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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MalaCards organs/tissues related to Fanconi-Bickel Syndrome:

31
Liver, Kidney

Animal Models for Fanconi-Bickel Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Fanconi-Bickel Syndrome:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.8LDHA, SLC2A2, G6PC
2MP:00107688.4F2, G6PC, LDHA, SLC2A2
3MP:00053788.1F2, G6PC, LDHA, SLC2A2
4MP:00053767.5SLC2A2, F2, ABCC8, G6PC, LDHA

Publications for Fanconi-Bickel Syndrome

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Articles related to Fanconi-Bickel Syndrome:

(show all 46)
idTitleAuthorsYear
1
Segregation of a novel homozygous 6 nucleotide deletion in GLUT2 gene in a Fanconi-Bickel syndrome family. (25523092)
2015
2
Acute metabolic acidosis in a GLUT2-deficient patient with Fanconi-Bickel syndrome: new pathophysiology insights. (25165176)
2014
3
Fanconi-Bickel Syndrome - Mutation in SLC2A2 Gene. (24912437)
2014
4
Phenotypic Variability in Patients with Fanconi-Bickel Syndrome with Identical Mutations. (24718840)
2014
5
Fanconi-Bickel syndrome versus osteogenesis imperfeeta: An Iranian case with a novel mutation in glucose transporter 2 gene, and review of literature. (23901198)
2013
6
Fanconi- Bickel Syndrome: mutation in an Indian patient. (21972075)
2012
7
A new mutation of Fanconi-Bickel syndrome with liver failure and pseudotumour cerebri. (23271022)
2012
8
Fanconi-Bickel syndrome as an example of marked allelic heterogeneity. (24175243)
2012
9
Fanconi-Bickel syndrome: GLUT2 mutations associated with a mild phenotype. (22214819)
2012
10
Transient neonatal diabetes as a presentation of Fanconi- Bickel Syndrome. (23456528)
2012
11
Fanconi-Bickel syndrome and autosomal recessive proximal tubulopathy with hypercalciuria (ARPTH) are allelic variants caused by GLUT2 mutations. (22865906)
2012
12
Fanconi-Bickel syndrome. (21327337)
2012
13
Mutation analysis of the GLUT2 gene in three unrelated Egyptian families with Fanconi-Bickel syndrome: revisited gene atlas for renumbering. (22350464)
2012
14
Hypophosphatemic rickets: presenting features of fanconi-bickel syndrome. (22937383)
2011
15
Fanconi-Bickel syndrome and fertility. (21910231)
2011
16
Fanconi Bickel Syndrome: Novel Mutations in GLUT 2 Gene Causing a Distinguished Form of Renal Tubular Acidosis in Two Unrelated Egyptian Families. (24533196)
2011
17
Two cases of Fanconi-Bickel syndrome: first report from China with novel mutations of SLC2A2 gene. (22145468)
2011
18
Successful pregnancy in the patient with Fanconi-Bickel syndrome undergoing daily hemodialysis. (21739588)
2011
19
Fanconi-Bickel syndrome: report of life history and successful pregnancy in an affected patient. (21271664)
2011
20
Fanconi-Bickel syndrome in a 3-year-old Indian boy with a novel mutation in the GLUT2 gene. (21625891)
2011
21
A novel mutation of the GLUT2 gene in a Turkish patient with Fanconi-Bickel syndrome. (19480329)
2009
22
Fanconi-Bickel syndrome--two cases report. (18626436)
2008
23
Hyperglycemia and hypoinsulinemia in patients with Fanconi-Bickel syndrome. (18717244)
2008
24
Fanconi-Bickel syndrome. (17413201)
2007
25
Glucose metabolism and insulin secretion in a patient with ABCC8 mutation and Fanconi-Bickel syndrome caused by maternal isodisomy of chromosome 3. (17539904)
2007
26
Bilateral nuclear cataracts as the first neonatal sign of Fanconi-Bickel syndrome. (16906471)
2006
27
Fanconi-Bickel syndrome in three Turkish patients with different homozygous mutations. (16052858)
2005
28
A novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome detected by neonatal screening for galactosaemia. (15243984)
2004
29
The Fanconi-Bickel syndrome: a case of neonatal onset. (15116130)
2004
30
No mutation in the SLC2A2 ( GLUT2) gene in a Turkish infant with Fanconi-Bickel syndrome. (12700970)
2003
31
A novel mutation (N32K) of GLUT2 gene in a Japanese patient with Fanconi-Bickel syndrome. (12220445)
2002
32
The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome. (11810292)
2002
33
A secondary respiratory chain defect in a patient with Fanconi-Bickel syndrome. (12408187)
2002
34
Fanconi-Bickel syndrome--a congenital defect of facilitative glucose transport. (11949937)
2002
35
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
36
Special feature: pathological case of the month. Glycogen storage disease with renal tubular dysfunction (type XI, Fanconi-Bickel syndrome). (11074862)
2000
37
Mutation analysis of two Japanese patients with Fanconi-Bickel syndrome. (10697967)
2000
38
A newly recognized missense mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome. (11079206)
2000
39
Mutation analysis of the GLUT2 gene in patients with Fanconi-Bickel syndrome. (11044475)
2000
40
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
41
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
42
Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome. (9354798)
1997
43
Fanconi-Bickel syndrome presenting in neonatal screening for galactosaemia. (9266402)
1997
44
Catch-up growth in Fanconi-Bickel syndrome with uncooked cornstarch. (7564233)
1995
45
Diabetes-like renal glomerular disease in Fanconi-Bickel syndrome. (7632512)
1995
46
Fanconi-Bickel syndrome. (3153325)
1987

Variations for Fanconi-Bickel Syndrome

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UniProtKB/Swiss-Prot 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

Clinvar genetic disease variations for Fanconi-Bickel Syndrome:

6 (show all 16)
id Gene Variation Type Significance SNP ID Assembly Location
1LDHALDHA, 20-BP DEL, EX6deletionPathogenic
2LDHANM_005566.3(LDHA): c.985G> T (p.Glu329Ter)single nucleotide variantPathogenicrs121912479GRCh37Chr 11, 18428814: 18428814
3SLC2A2SLC2A2, 1-BP DELdeletionPathogenic
4SLC2A2NM_000340.1(SLC2A2): c.1093C> T (p.Arg365Ter)single nucleotide variantPathogenicrs121909742GRCh37Chr 3, 170716931: 170716931
5SLC2A2NM_000340.1(SLC2A2): c.901C> T (p.Arg301Ter)single nucleotide variantPathogenicrs121909743GRCh37Chr 3, 170723136: 170723136
6SLC2A2SLC2A2, 1405C-Tsingle nucleotide variantPathogenic
7SLC2A2NM_000340.1(SLC2A2): c.1250C> T (p.Pro417Leu)single nucleotide variantPathogenicrs121909744GRCh37Chr 3, 170716106: 170716106
8SLC2A2NM_000340.1(SLC2A2): c.1259G> A (p.Trp420Ter)single nucleotide variantPathogenicrs121909745GRCh37Chr 3, 170716097: 170716097
9SLC2A2SLC2A2, 1-BP DEL, 1363GdeletionPathogenic
10SLC2A2SLC2A2, 1-BP INS, 793CinsertionPathogenic
11SLC2A2SLC2A2, 1264G-Asingle nucleotide variantPathogenic
12SLC2A2SLC2A2, 469C-Tsingle nucleotide variantPathogenic
13SLC2A2NM_000340.1(SLC2A2): c.1268T> A (p.Val423Glu)single nucleotide variantPathogenicrs28928874GRCh37Chr 3, 170716088: 170716088
14SLC2A2SLC2A2, IVS2, A-G, -2single nucleotide variantPathogenic
15SLC2A2NM_000340.1(SLC2A2): c.859C> T (p.Gln287Ter)single nucleotide variantPathogenicrs121909746GRCh37Chr 3, 170723178: 170723178
16SLC2A2NM_000340.1(SLC2A2): c.1166T> C (p.Leu389Pro)single nucleotide variantPathogenicrs121909747GRCh37Chr 3, 170716858: 170716858

Expression for genes affiliated with Fanconi-Bickel Syndrome

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

Pathways for genes affiliated with Fanconi-Bickel Syndrome

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Pathways related to Fanconi-Bickel Syndrome according to GeneCards Suite gene sharing:

(show all 11)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5SLC2A2, LDHA
2
Show member pathways
9.4SLC2A2, G6PC
3
Show member pathways
9.4G6PC, SLC2A2
49.4G6PC, SLC2A2
5
Show member pathways
9.2ABCC8, SLC2A2
6
Show member pathways
9.2SLC2A2, ABCC8
7
Show member pathways
9.2SLC2A2, ABCC8
8
Show member pathways
glycolysis36
gluconeogenesis36
Glycolysis and Gluconeogenesis36
8.9SLC2A2, LDHA, G6PC
9
Show member pathways
8.6ABCC8, G6PC, SLC2A2
10
Show member pathways
8.1SLC2A2, LDHA, G6PC, ABCC8
118.1SLC2A2, G6PC, ABCC8, F2

Compounds for genes affiliated with Fanconi-Bickel Syndrome

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Sources:
43Novoseek, 12DrugBank, 24HMDB, 28IUPHAR
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Compounds related to Fanconi-Bickel Syndrome according to GeneCards Suite gene sharing:

(show all 22)
idCompoundScoreTop Affiliating Genes
1streptozotocin439.7G6PC, SLC2A2
2fructose43 1210.7G6PC, SLC2A2
3phosphoenolpyruvate43 1210.6G6PC, SLC2A2
42-deoxyglucose43 1210.6G6PC, SLC2A2
5glucose 6-phosphate43 2410.6G6PC, SLC2A2
6galactose439.6G6PC, SLC2A2
7sulfonylurea439.5SLC2A2, ABCC8
8katp439.5SLC2A2, ABCC8
9mannitol43 1210.5G6PC, SLC2A2
10nadh43 24 1211.3LDHA, G6PC
11sterol439.3SLC2A2, G6PC
12pyruvate439.2LDHA, SLC2A2, G6PC
13lactate439.1G6PC, F2, LDHA
14glyceraldehyde 3-phosphate439.0G6PC, LDHA
15glycogen43 249.9SLC2A2, G6PC, ABCC8
16aspartate438.8G6PC, ABCC8, F2
17arginine438.7SLC2A2, G6PC, ABCC8
18adp43 28 2410.6ABCC8, G6PC, F2
19oxygen43 249.5G6PC, ABCC8, LDHA
20leucine438.4LDHA, ABCC8, G6PC, SLC2A2
21atp43 289.4ABCC8, SLC2A2, G6PC, LDHA
22glucose438.4ABCC8, G6PC, LDHA, SLC2A2

GO Terms for genes affiliated with Fanconi-Bickel Syndrome

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Biological processes related to Fanconi-Bickel Syndrome according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1hexose transportGO:00086459.5SLC2A2, G6PC
2glucose transportGO:00157589.3SLC2A2, G6PC
3energy reserve metabolic processGO:00061129.2SLC2A2, ABCC8
4regulation of insulin secretionGO:00507968.9SLC2A2, ABCC8
5carbohydrate metabolic processGO:00059758.7SLC2A2, G6PC, ABCC8
6transmembrane transportGO:00550858.6ABCC8, G6PC, SLC2A2
7small molecule metabolic processGO:00442818.2ABCC8, G6PC, LDHA, SLC2A2

Products for genes affiliated with Fanconi-Bickel Syndrome

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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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet