MCID: FNC009
MIFTS: 49

Fanconi-Bickel Syndrome malady

Categories: Genetic diseases, Rare diseases, Gastrointestinal diseases, Nephrological diseases, Liver diseases

Aliases & Classifications for Fanconi-Bickel Syndrome

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Aliases & Descriptions for Fanconi-Bickel Syndrome:

Name: Fanconi-Bickel Syndrome 49 11 22 47 67 65
Glycogen Storage Disease Xi 49 11 45 22 67
Hepatorenal Glycogenosis with Renal Fanconi Syndrome 45 22 67
Lactate Dehydrogenase a Deficiency 45 22 67
Fanconi Syndrome with Intestinal Malabsorption and Galactose Intolerance 45 67
Hepatic Glycogenosis with Amino Aciduria and Glucosuria 45 67
Lactate Dehydrogenase Deficiency Type a 45 65
Glycogen Storage Disease 11 67 24
Glycogenosis Fanconi Type 45 67
Pseudo-Phlorizin Diabetes 45 67
 
Hepatic Glycogenosis with Fanconi Nephropathy 67
Hepatic Glycogenesis with Fanconi Nephropathy 22
Glycogenosis with Glucoaminophosphaturia 65
Glycogen Storage Disease Type Xi 22
Fanconi Bickel Syndrome 45
Fanconi-Bickel Disease 24
Glut2 Deficiency 45
Gsd Xi 67
Gsd11 67
Fbs 67

Characteristics:

HPO:

61
fanconi-bickel syndrome:
Inheritance: autosomal recessive inheritance
glycogen storage disease xi:
Inheritance: autosomal recessive inheritance
Onset and clinical course: juvenile onset


Classifications:



External Ids:

MeSH36 D006008
UMLS65 C3495427, C2931743, C3536827

Summaries for Fanconi-Bickel Syndrome

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OMIM:49 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 hyperglycemia and glycogen storage disease due to glut2 deficiency, and has symptoms including chronic acidosis, impairment of galactose metabolism and poor appetite. An important gene associated with Fanconi-Bickel Syndrome is SLC2A2 (Solute Carrier Family 2 Member 2), and among its related pathways are Type II diabetes mellitus and Integration of energy metabolism. Affiliated tissues include liver, kidney and heart, and related mouse phenotype liver/biliary system.

NIH Rare Diseases:45 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

UniProtKB/Swiss-Prot:67 Fanconi-Bickel syndrome: Rare, well-defined clinical entity, inherited in an autosomal recessive mode and characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose. Glycogen storage disease 11: A metabolic disorder that results in exertional myoglobinuria, pain, cramps and easy fatigue.

Description from OMIM:49 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 28)
id Description Frequency HPO Source Accession
1 chronic acidosis HP:0012468
2 impairment of galactose metabolism HP:0004915
3 poor appetite HP:0004396
4 hypouricemia HP:0003537
5 abdominal distention HP:0003270
6 elevated alkaline phosphatase HP:0003155
7 hyperphosphaturia HP:0003109
8 glycosuria HP:0003076
9 generalized aminoaciduria HP:0002909
10 hypokalemia HP:0002900
11 osteomalacia HP:0002749
12 hypophosphatemia HP:0002148
13 malabsorption HP:0002024
14 failure to thrive HP:0001508
15 global developmental delay HP:0001263
16 decreased subcutaneous fat HP:0001002
17 renal tubular dysfunction HP:0000124
18 renal insufficiency HP:0000083
19 rigidity HP:0002063
20 increased serum lactate HP:0002151
21 myoglobinuria HP:0002913
22 rhabdomyolysis HP:0003201
23 elevated serum creatine phosphokinase HP:0003236
24 myalgia HP:0003326
25 muscle cramps HP:0003394
26 increased serum pyruvate HP:0003542
27 exercise intolerance HP:0003546
28 muscle stiffness HP:0003552

UMLS symptoms related to Fanconi-Bickel Syndrome:


myalgia, muscular stiffness, muscle rigidity, muscle cramp

Drugs & Therapeutics for Fanconi-Bickel Syndrome

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Drugs for Fanconi-Bickel Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1AstragalusNutraceutical48

Interventional clinical trials:

idNameStatusNCT IDPhase
1Genetic Disease Gene IdentificationEnrolling by invitationNCT00916903

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 Syndrome22 SLC2A2
2 Glycogen Storage Disease Xi22 LDHA

Anatomical Context for Fanconi-Bickel Syndrome

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MalaCards organs/tissues related to Fanconi-Bickel Syndrome:

33
Liver, Kidney, Heart, Lung, Breast, Monocytes, Testes

Animal Models for Fanconi-Bickel Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Fanconi-Bickel Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.5G6PC, LDHA, SLC2A2

Publications for Fanconi-Bickel Syndrome

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Articles related to Fanconi-Bickel Syndrome:

(show all 48)
idTitleAuthorsYear
1
Clinical and biochemical signs in Fleckvieh cattle with genetically confirmed Fanconi-Bickel syndrome (cattle homozygous for Fleckvieh haplotype 2). (27169150)
2016
2
Segregation of a novel homozygous 6 nucleotide deletion in GLUT2 gene in a Fanconi-Bickel syndrome family. (25523092)
2015
3
SLC2A2 gene analysis in three Chinese children with Fanconi-Bickel syndrome]. (25919556)
2015
4
Acute metabolic acidosis in a GLUT2-deficient patient with Fanconi-Bickel syndrome: new pathophysiology insights. (25165176)
2014
5
Fanconi-Bickel Syndrome - Mutation in SLC2A2 Gene. (24912437)
2014
6
Phenotypic Variability in Patients with Fanconi-Bickel Syndrome with Identical Mutations. (24718840)
2014
7
Fanconi-Bickel syndrome versus osteogenesis imperfeeta: An Iranian case with a novel mutation in glucose transporter 2 gene, and review of literature. (23901198)
2013
8
Fanconi- Bickel Syndrome: mutation in an Indian patient. (21972075)
2012
9
A new mutation of Fanconi-Bickel syndrome with liver failure and pseudotumour cerebri. (23271022)
2012
10
Fanconi-Bickel syndrome as an example of marked allelic heterogeneity. (24175243)
2012
11
Fanconi-Bickel syndrome: GLUT2 mutations associated with a mild phenotype. (22214819)
2012
12
Transient neonatal diabetes as a presentation of Fanconi- Bickel Syndrome. (23456528)
2012
13
Fanconi-Bickel syndrome and autosomal recessive proximal tubulopathy with hypercalciuria (ARPTH) are allelic variants caused by GLUT2 mutations. (22865906)
2012
14
Fanconi-Bickel syndrome. (21327337)
2012
15
Mutation analysis of the GLUT2 gene in three unrelated Egyptian families with Fanconi-Bickel syndrome: revisited gene atlas for renumbering. (22350464)
2012
16
Hypophosphatemic rickets: presenting features of fanconi-bickel syndrome. (22937383)
2011
17
Fanconi-Bickel syndrome and fertility. (21910231)
2011
18
Fanconi Bickel Syndrome: Novel Mutations in GLUT 2 Gene Causing a Distinguished Form of Renal Tubular Acidosis in Two Unrelated Egyptian Families. (24533196)
2011
19
Two cases of Fanconi-Bickel syndrome: first report from China with novel mutations of SLC2A2 gene. (22145468)
2011
20
Successful pregnancy in the patient with Fanconi-Bickel syndrome undergoing daily hemodialysis. (21739588)
2011
21
Fanconi-Bickel syndrome: report of life history and successful pregnancy in an affected patient. (21271664)
2011
22
Fanconi-Bickel syndrome in a 3-year-old Indian boy with a novel mutation in the GLUT2 gene. (21625891)
2011
23
A novel mutation of the GLUT2 gene in a Turkish patient with Fanconi-Bickel syndrome. (19480329)
2009
24
Fanconi-Bickel syndrome--two cases report. (18626436)
2008
25
Hyperglycemia and hypoinsulinemia in patients with Fanconi-Bickel syndrome. (18717244)
2008
26
Fanconi-Bickel syndrome. (17413201)
2007
27
Glucose metabolism and insulin secretion in a patient with ABCC8 mutation and Fanconi-Bickel syndrome caused by maternal isodisomy of chromosome 3. (17539904)
2007
28
Bilateral nuclear cataracts as the first neonatal sign of Fanconi-Bickel syndrome. (16906471)
2006
29
Fanconi-Bickel syndrome in three Turkish patients with different homozygous mutations. (16052858)
2005
30
A novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome detected by neonatal screening for galactosaemia. (15243984)
2004
31
The Fanconi-Bickel syndrome: a case of neonatal onset. (15116130)
2004
32
No mutation in the SLC2A2 ( GLUT2) gene in a Turkish infant with Fanconi-Bickel syndrome. (12700970)
2003
33
A novel mutation (N32K) of GLUT2 gene in a Japanese patient with Fanconi-Bickel syndrome. (12220445)
2002
34
The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome. (11810292)
2002
35
A secondary respiratory chain defect in a patient with Fanconi-Bickel syndrome. (12408187)
2002
36
Fanconi-Bickel syndrome--a congenital defect of facilitative glucose transport. (11949937)
2002
37
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
38
Special feature: pathological case of the month. Glycogen storage disease with renal tubular dysfunction (type XI, Fanconi-Bickel syndrome). (11074862)
2000
39
Mutation analysis of two Japanese patients with Fanconi-Bickel syndrome. (10697967)
2000
40
A newly recognized missense mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome. (11079206)
2000
41
Mutation analysis of the GLUT2 gene in patients with Fanconi-Bickel syndrome. (11044475)
2000
42
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
43
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
44
Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome. (9354798)
1997
45
Fanconi-Bickel syndrome presenting in neonatal screening for galactosaemia. (9266402)
1997
46
Catch-up growth in Fanconi-Bickel syndrome with uncooked cornstarch. (7564233)
1995
47
Diabetes-like renal glomerular disease in Fanconi-Bickel syndrome. (7632512)
1995
48
Fanconi-Bickel syndrome. (3153325)
1987

Variations for Fanconi-Bickel Syndrome

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

67
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:

5 (show all 15)
id Gene Variation Type Significance SNP ID Assembly Location
1LDHALDHA, 20-BP DEL, EX6deletionPathogenic
2SLC2A2SLC2A2, 1-BP DELdeletionPathogenic
3SLC2A2NM_000340.1(SLC2A2): c.1093C> T (p.Arg365Ter)single nucleotide variantPathogenicrs121909742GRCh37Chr 3, 170716931: 170716931
4SLC2A2NM_000340.1(SLC2A2): c.901C> T (p.Arg301Ter)single nucleotide variantPathogenicrs121909743GRCh37Chr 3, 170723136: 170723136
5SLC2A2SLC2A2, 1405C-Tsingle nucleotide variantPathogenic
6SLC2A2NM_000340.1(SLC2A2): c.1250C> T (p.Pro417Leu)single nucleotide variantPathogenicrs121909744GRCh37Chr 3, 170716106: 170716106
7SLC2A2NM_000340.1(SLC2A2): c.1259G> A (p.Trp420Ter)single nucleotide variantPathogenicrs121909745GRCh37Chr 3, 170716097: 170716097
8SLC2A2SLC2A2, 1-BP DEL, 1363GdeletionPathogenic
9SLC2A2SLC2A2, 1-BP INS, 793CinsertionPathogenic
10SLC2A2SLC2A2, 1264G-Asingle nucleotide variantPathogenic
11SLC2A2SLC2A2, 469C-Tsingle nucleotide variantPathogenic
12SLC2A2NM_000340.1(SLC2A2): c.1268T> A (p.Val423Glu)single nucleotide variantPathogenicrs28928874GRCh37Chr 3, 170716088: 170716088
13SLC2A2SLC2A2, IVS2AS, A-G, -2single nucleotide variantPathogenic
14SLC2A2NM_000340.1(SLC2A2): c.859C> T (p.Gln287Ter)single nucleotide variantPathogenicrs121909746GRCh37Chr 3, 170723178: 170723178
15SLC2A2NM_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:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.4ABCC8, SLC2A2
2
Show member pathways
9.4ABCC8, SLC2A2
3
Show member pathways
9.4ABCC8, SLC2A2
49.3LDHA, SLC2A2
59.3LDHA, SLC2A2
69.1G6PC, SLC2A2
7
Show member pathways
8.6ABCC8, G6PC, SLC2A2
88.6ABCC8, G6PC, SLC2A2
98.5G6PC, LDHA, SLC2A2
10
Show member pathways
8.5G6PC, 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:

idNameGO IDScoreTop Affiliating Genes
1regulation of insulin secretionGO:00507969.7ABCC8, SLC2A2
2glucose transportGO:00157589.6G6PC, SLC2A2
3carbohydrate metabolic processGO:00059759.4G6PC, LDHA
4small molecule metabolic processGO:00442818.5G6PC, LDHA, SLC2A2

Sources for Fanconi-Bickel Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet