FBS
MCID: FNC009
MIFTS: 52

Fanconi-Bickel Syndrome (FBS) malady

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

Aliases & Classifications for Fanconi-Bickel Syndrome

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Aliases & Descriptions for Fanconi-Bickel Syndrome:

Name: Fanconi-Bickel Syndrome 52 24 70 12 50 68
Glycogen Storage Disease Xi 52 48 24 70 12
Lactate Dehydrogenase a Deficiency 48 24 54 70
Hepatorenal Glycogenosis with Renal Fanconi Syndrome 48 24 70
Fanconi Syndrome with Intestinal Malabsorption and Galactose Intolerance 48 70
Hepatic Glycogenosis with Amino Aciduria and Glucosuria 48 70
Glycogen Storage Disease Due to Glut2 Deficiency 48 54
Lactate Dehydrogenase Deficiency Type a 48 68
Glycogen Storage Disease Type Xi 24 54
Glycogen Storage Disease 11 70 27
Pseudo-Phlorizin Diabetes 48 70
Glycogenosis Fanconi Type 48 70
Fanconi-Bickel Disease 54 27
Glycogen Storage Disease Due to Lactate Dehydrogenase M-Subunit Deficiency 54
Glycogenosis Due to Lactate Dehydrogenase M-Subunit Deficiency 54
Gsd Due to Lactate Dehydrogenase M-Subunit Deficiency 54
Hepatic Glycogenosis with Fanconi Nephropathy 70
 
Hepatic Glycogenesis with Fanconi Nephropathy 24
Glycogenosis with Glucoaminophosphaturia 68
Glycogenosis Due to Glut2 Deficiency 54
Glycogen Storage Disease Type 11 54
Bickel-Fanconi Glycogenosis 54
Gsd Due to Glut2 Deficiency 54
Ldh-M Subunit Deficiency 54
Lactate Dehydrogenase a 12
Fanconi Bickel Syndrome 48
Glycogenosis Type 11 54
Glut2 Deficiency 48
Gsd Type 11 54
Gsd Type Xi 54
Gsd Xi 70
Gsd11 70
Fbs 70

Characteristics:

Orphanet epidemiological data:

54
glycogen storage disease due to glut2 deficiency:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal
lactate dehydrogenase a deficiency:
Inheritance: Autosomal recessive; Age of onset: Childhood

HPO:

64
fanconi-bickel syndrome:
Inheritance: autosomal recessive inheritance
glycogen storage disease xi:
Inheritance: autosomal recessive inheritance
Onset and clinical course: juvenile onset

Classifications:



External Ids:

ICD10 via Orphanet31 E74.0
MeSH39 D006008

Summaries for Fanconi-Bickel Syndrome

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NIH Rare Diseases:48 Fanconi bickel syndrome (fbs) is a rare condition characterized by the accumulation of a substance called glycogen in different parts of the body. glycogen is created when the body needs to store glucose (sugar). when the body needs sugar again, glycogen is transformed back into glucose for use. people with fanconi bickel syndrome do not store the appropriate amount of glycogen. therefore, fanconi bickel syndrome is known as a glycogen storage disease. specifically, glycogen accumulates in the liver and kidneys. signs and symptoms begin in the first few months of life and include growing slower than expected (failure to thrive), excessive urination (polyuria), and  weakened bones (rickets). later in life, children may have short stature and a swollen liver and spleen (hepatosplenomegaly).  fanconi bickel syndrome is caused by mutations to the slc2a2 gene and is inherited in an autosomal recessive manner. diagnosis of fbs is based on a clinical examination that shows signs of fbs. the condition can be confirmed by genetic testing. treatment is focused on relieving symptoms of the condition, particularly the symptoms that affect the kidneys. last updated: 2/27/2017

MalaCards based summary: Fanconi-Bickel Syndrome, also known as glycogen storage disease xi, is related to fanconi syndrome and lactate dehydrogenase deficiency, and has symptoms including muscle cramp, muscle rigidity and muscular stiffness. An important gene associated with Fanconi-Bickel Syndrome is SLC2A2 (Solute Carrier Family 2 Member 2), and among its related pathways are Central carbon metabolism in cancer and HIF1Alpha Pathway. Affiliated tissues include liver, testes and kidney, and related mouse phenotypes are liver/biliary system and homeostasis/metabolism.

OMIM:52 Fanconi-Bickel syndrome is a rare but well-defined clinical entity, inherited in an autosomal recessive mode and... (227810) more...

UniProtKB/Swiss-Prot:70 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:52 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 & Phenotypes for Fanconi-Bickel Syndrome

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Symptoms by clinical synopsis from OMIM:

227810

Clinical features from OMIM:

227810,612933

Human phenotypes related to Fanconi-Bickel Syndrome:

 64 (show all 28)
id Description HPO Frequency HPO Source Accession
1 renal tubular dysfunction64 HP:0000124
2 global developmental delay64 HP:0001263
3 failure to thrive64 HP:0001508
4 malabsorption64 HP:0002024
5 hypophosphatemia64 HP:0002148
6 osteomalacia64 HP:0002749
7 hypokalemia64 HP:0002900
8 generalized aminoaciduria64 HP:0002909
9 glycosuria64 HP:0003076
10 hyperphosphaturia64 HP:0003109
11 elevated alkaline phosphatase64 HP:0003155
12 abdominal distention64 HP:0003270
13 hypouricemia64 HP:0003537
14 reduced subcutaneous adipose tissue64 HP:0003758
15 poor appetite64 HP:0004396
16 impairment of galactose metabolism64 HP:0004915
17 chronic acidosis64 HP:0012468
18 renal insufficiency64 HP:0000083
19 rigidity64 HP:0002063
20 increased serum lactate64 HP:0002151
21 myoglobinuria64 HP:0002913
22 rhabdomyolysis64 HP:0003201
23 elevated serum creatine phosphokinase64 HP:0003236
24 myalgia64 HP:0003326
25 muscle cramps64 HP:0003394
26 increased serum pyruvate64 HP:0003542
27 exercise intolerance64 HP:0003546
28 muscle stiffness64 HP:0003552

UMLS symptoms related to Fanconi-Bickel Syndrome:


muscle cramp, muscle rigidity, muscular stiffness, myalgia

MGI Mouse Phenotypes related to Fanconi-Bickel Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.4G6PC, INS, LDHA, SLC2A2
2MP:00053768.2ABCC8, G6PC, INS, LDHA, SLC2A2

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
1Neuroserpin3
2AstragalusNutraceutical55

Interventional clinical trials:

idNameStatusNCT IDPhase
1Genetic Disease Gene IdentificationUnknown statusNCT00916903

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 Syndrome27 24 SLC2A2
2 Glycogen Storage Disease Xi27 24 LDHA

Anatomical Context for Fanconi-Bickel Syndrome

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MalaCards organs/tissues related to Fanconi-Bickel Syndrome:

36
Liver, Testes, Kidney, Spleen, Bone

Publications for Fanconi-Bickel Syndrome

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Articles related to Fanconi-Bickel Syndrome:

(show top 50)    (show all 56)
idTitleAuthorsYear
1
Glycosuria and hyperglycemia in the neonatal period as the first clinical sign of Fanconi-Bickel syndrome. (28493372)
2017
2
Hepatocellular Carcinoma in Fanconi-Bickel Syndrome. (28382841)
2017
3
Erratum to: Fanconi-Bickel Syndrome - Mutation in SLC2A2 Gene. (27477478)
2016
4
Fanconi-Bickel Syndrome: Another Novel Mutation in SLC2A2. (27738794)
2016
5
Clinical and biochemical signs in Fleckvieh cattle with genetically confirmed Fanconi-Bickel syndrome (cattle homozygous for Fleckvieh haplotype 2). (27169150)
2016
6
Fanconi-Bickel Syndrome: Two Pakistani Patients Presenting with Hypophosphatemic Rickets. (27617158)
2016
7
Fanconi-Bickel syndrome in two Palestinian children: marked phenotypic variability with identical mutation. (27487919)
2016
8
Fanconi Bickel Syndrome with Hypercalciuria due to GLUT 2 Mutation. (27771652)
2016
9
SLC2A2 gene analysis in three Chinese children with Fanconi-Bickel syndrome]. (25919556)
2015
10
Segregation of a novel homozygous 6 nucleotide deletion in GLUT2 gene in a Fanconi-Bickel syndrome family. (25523092)
2015
11
Acute metabolic acidosis in a GLUT2-deficient patient with Fanconi-Bickel syndrome: new pathophysiology insights. (25165176)
2014
12
Phenotypic Variability in Patients with Fanconi-Bickel Syndrome with Identical Mutations. (24718840)
2014
13
Fanconi-Bickel Syndrome - Mutation in SLC2A2 Gene. (24912437)
2014
14
Fanconi-Bickel syndrome versus osteogenesis imperfeeta: An Iranian case with a novel mutation in glucose transporter 2 gene, and review of literature. (23901198)
2013
15
An Indian girl with Fanconi-Bickel syndrome without SLC2A2 gene mutation. (27625848)
2013
16
Mutation analysis of the GLUT2 gene in three unrelated Egyptian families with Fanconi-Bickel syndrome: revisited gene atlas for renumbering. (22350464)
2012
17
Transient neonatal diabetes as a presentation of Fanconi- Bickel Syndrome. (23456528)
2012
18
A new mutation of Fanconi-Bickel syndrome with liver failure and pseudotumour cerebri. (23271022)
2012
19
Fanconi-Bickel syndrome as an example of marked allelic heterogeneity. (24175243)
2012
20
Fanconi-Bickel syndrome: GLUT2 mutations associated with a mild phenotype. (22214819)
2012
21
Fanconi-Bickel syndrome. (21327337)
2012
22
Fanconi- Bickel Syndrome: mutation in an Indian patient. (21972075)
2012
23
Fanconi-Bickel syndrome and autosomal recessive proximal tubulopathy with hypercalciuria (ARPTH) are allelic variants caused by GLUT2 mutations. (22865906)
2012
24
Fanconi Bickel Syndrome: Novel Mutations in GLUT 2 Gene Causing a Distinguished Form of Renal Tubular Acidosis in Two Unrelated Egyptian Families. (24533196)
2011
25
Fanconi-Bickel syndrome and fertility. (21910231)
2011
26
Two cases of Fanconi-Bickel syndrome: first report from China with novel mutations of SLC2A2 gene. (22145468)
2011
27
Successful pregnancy in the patient with Fanconi-Bickel syndrome undergoing daily hemodialysis. (21739588)
2011
28
Fanconi-Bickel syndrome: report of life history and successful pregnancy in an affected patient. (21271664)
2011
29
Fanconi-Bickel syndrome in a 3-year-old Indian boy with a novel mutation in the GLUT2 gene. (21625891)
2011
30
Hypophosphatemic rickets: presenting features of fanconi-bickel syndrome. (22937383)
2011
31
A novel mutation of the GLUT2 gene in a Turkish patient with Fanconi-Bickel syndrome. (19480329)
2009
32
Hyperglycemia and hypoinsulinemia in patients with Fanconi-Bickel syndrome. (18717244)
2008
33
Fanconi-Bickel syndrome--two cases report. (18626436)
2008
34
Glucose metabolism and insulin secretion in a patient with ABCC8 mutation and Fanconi-Bickel syndrome caused by maternal isodisomy of chromosome 3. (17539904)
2007
35
Fanconi-Bickel syndrome. (17413201)
2007
36
Bilateral nuclear cataracts as the first neonatal sign of Fanconi-Bickel syndrome. (16906471)
2006
37
Fanconi-Bickel syndrome in three Turkish patients with different homozygous mutations. (16052858)
2005
38
A novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome detected by neonatal screening for galactosaemia. (15243984)
2004
39
The Fanconi-Bickel syndrome: a case of neonatal onset. (15116130)
2004
40
No mutation in the SLC2A2 ( GLUT2) gene in a Turkish infant with Fanconi-Bickel syndrome. (12700970)
2003
41
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
42
A novel mutation (N32K) of GLUT2 gene in a Japanese patient with Fanconi-Bickel syndrome. (12220445)
2002
43
The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome. (11810292)
2002
44
Fanconi-Bickel syndrome--a congenital defect of facilitative glucose transport. (11949937)
2002
45
A secondary respiratory chain defect in a patient with Fanconi-Bickel syndrome. (12408187)
2002
46
Mutation analysis of two Japanese patients with Fanconi-Bickel syndrome. (10697967)
2000
47
A newly recognized missense mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome. (11079206)
2000
48
Mutation analysis of the GLUT2 gene in patients with Fanconi-Bickel syndrome. (11044475)
2000
49
Special feature: pathological case of the month. Glycogen storage disease with renal tubular dysfunction (type XI, Fanconi-Bickel syndrome). (11074862)
2000
50
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

Variations for Fanconi-Bickel Syndrome

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

70
id Symbol AA change Variation ID SNP ID
1SLC2A2p.Leu389ProVAR_018651rs121909747
2SLC2A2p.Pro417LeuVAR_018652rs121909744
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)SNVPathogenicrs121909742GRCh37Chr 3, 170716931: 170716931
4SLC2A2NM_ 000340.1(SLC2A2): c.901C> T (p.Arg301Ter)SNVPathogenicrs121909743GRCh37Chr 3, 170723136: 170723136
5SLC2A2SLC2A2, 1405C-TSNVPathogenic
6SLC2A2NM_ 000340.1(SLC2A2): c.1250C> T (p.Pro417Leu)SNVPathogenicrs121909744GRCh37Chr 3, 170716106: 170716106
7SLC2A2NM_ 000340.1(SLC2A2): c.1259G> A (p.Trp420Ter)SNVPathogenicrs121909745GRCh37Chr 3, 170716097: 170716097
8SLC2A2SLC2A2, 1-BP DEL, 1363GdeletionPathogenic
9SLC2A2SLC2A2, 1-BP INS, 793CinsertionPathogenic
10SLC2A2SLC2A2, 1264G-ASNVPathogenic
11SLC2A2SLC2A2, 469C-TSNVPathogenic
12SLC2A2NM_ 000340.1(SLC2A2): c.1268T> A (p.Val423Glu)SNVPathogenicrs28928874GRCh37Chr 3, 170716088: 170716088
13SLC2A2SLC2A2, IVS2AS, A-G, -2SNVPathogenic
14SLC2A2NM_ 000340.1(SLC2A2): c.859C> T (p.Gln287Ter)SNVPathogenicrs121909746GRCh37Chr 3, 170723178: 170723178
15SLC2A2NM_ 000340.1(SLC2A2): c.1166T> C (p.Leu389Pro)SNVPathogenicrs121909747GRCh37Chr 3, 170716858: 170716858

Copy number variations for Fanconi-Bickel Syndrome from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
13279513960000043900000DeletionSLC2A1GLUT2 deficiency syndrome

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 18)
idSuper pathwaysScoreTop Affiliating Genes
19.5LDHA, SLC2A2
29.5LDHA, SLC2A2
3
Show member pathways
9.5INS, SLC2A2
4
Show member pathways
9.5INS, SLC2A2
59.5INS, SLC2A2
69.4INS, LDHA
79.4G6PC, SLC2A2
8
Show member pathways
9.4G6PC, SLC2A2
9
Show member pathways
9.3G6PC, INS
109.0INS, LDHA, SLC2A2
11
Show member pathways
8.9G6PC, LDHA, SLC2A2
128.9G6PC, LDHA, SLC2A2
13
Show member pathways
8.9G6PC, INS, SLC2A2
14
Show member pathways
8.7ABCC8, INS, SLC2A2
15
Show member pathways
8.7ABCC8, INS, SLC2A2
16
Show member pathways
8.7ABCC8, INS, SLC2A2
178.1ABCC8, G6PC, INS, SLC2A2
18
Show member pathways
7.5ABCC8, G6PC, INS, 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
1glucose homeostasisGO:00425939.9G6PC, INS
2carbohydrate metabolic processGO:00059759.6INS, LDHA, SLC2A2
3glucose transportGO:00157589.4G6PC, INS, SLC2A2
4regulation of insulin secretionGO:00507969.2ABCC8, SLC2A2

Sources for Fanconi-Bickel Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet