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

Aliases & Descriptions for Fanconi-Bickel Syndrome:

Name: Fanconi-Bickel Syndrome 54 24 66 13 52 69
Glycogen Storage Disease Xi 54 50 24 66 13
Lactate Dehydrogenase a Deficiency 50 24 56 66
Hepatorenal Glycogenosis with Renal Fanconi Syndrome 50 24 66
Fanconi Syndrome with Intestinal Malabsorption and Galactose Intolerance 50 66
Hepatic Glycogenosis with Amino Aciduria and Glucosuria 50 66
Glycogen Storage Disease Due to Glut2 Deficiency 50 56
Lactate Dehydrogenase Deficiency Type a 50 69
Glycogen Storage Disease Type Xi 24 56
Glycogen Storage Disease 11 66 29
Glycogenosis Fanconi Type 50 66
Pseudo-Phlorizin Diabetes 50 66
Fanconi-Bickel Disease 56 29
Glycogen Storage Disease Due to Lactate Dehydrogenase M-Subunit Deficiency 56
Glycogenosis Due to Lactate Dehydrogenase M-Subunit Deficiency 56
Gsd Due to Lactate Dehydrogenase M-Subunit Deficiency 56
Hepatic Glycogenesis with Fanconi Nephropathy 24
Hepatic Glycogenosis with Fanconi Nephropathy 66
Glycogenosis with Glucoaminophosphaturia 69
Glycogenosis Due to Glut2 Deficiency 56
Glycogen Storage Disease Type 11 56
Bickel-Fanconi Glycogenosis 56
Gsd Due to Glut2 Deficiency 56
Ldh-M Subunit Deficiency 56
Fanconi Bickel Syndrome 50
Lactate Dehydrogenase a 13
Glycogenosis Type 11 56
Glut2 Deficiency 50
Gsd Type 11 56
Gsd Type Xi 56
Gsd Xi 66
Gsd11 66
Fbs 66

Characteristics:

Orphanet epidemiological data:

56
glycogen storage disease due to glut2 deficiency
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;
glycogen storage disease due to lactate dehydrogenase m-subunit deficiency
Inheritance: Autosomal recessive; Age of onset: Childhood;

HPO:

32
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 Orphanet 34 E74.0
MeSH 42 D006008

Summaries for Fanconi-Bickel Syndrome

NIH Rare Diseases : 50 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 myalgia, failure to thrive and global developmental delay. An important gene associated with Fanconi-Bickel Syndrome is SLC2A2 (Solute Carrier Family 2 Member 2), and among its related pathways/superpathways are Metabolism and Glucose metabolism. The drugs Neuroserpin and Astragalus have been mentioned in the context of this disorder. Affiliated tissues include liver, testes and bone, and related phenotypes are homeostasis/metabolism and liver/biliary system

OMIM : 54 Fanconi-Bickel syndrome is a rare but well-defined clinical entity, inherited in an autosomal recessive mode and... (227810) more...

UniProtKB/Swiss-Prot : 66 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.

Related Diseases for Fanconi-Bickel Syndrome

Diseases related to Fanconi-Bickel Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 36)
id Related Disease Score Top Affiliating Genes
1 fanconi syndrome 11.1
2 lactate dehydrogenase deficiency 11.1
3 rickets 10.1
4 hyperglycemia 10.1
5 hypophosphatemic rickets 10.1
6 glycogen storage disease 10.0
7 renal tubular acidosis 10.0
8 metabolic acidosis 10.0
9 neonatal diabetes mellitus 10.0
10 hepatocellular carcinoma 10.0
11 cataract 10.0
12 labyrinthine unilateral reactive loss 9.9 ABCC8 INS
13 mosaic trisomy 13 9.9 ABCC8 INS
14 autoimmune disease 1 9.9 ABCC8 INS
15 non-syndromic intellectual disability 9.9 ABCC8 INS
16 maturity-onset diabetes of the young, type 13 9.9 ABCC8 INS
17 diabetic cataract 9.8 ABCC8 INS
18 focal segmental glomerulosclerosis 8 9.8 ABCC8 INS
19 deafness, autosomal recessive 66 9.8 ABCC8 INS
20 exostosis 9.8 ABCC8 INS
21 leukemia 9.8
22 conversion disorder 9.8
23 impotence 9.8
24 brain injury 9.8
25 chondroma 9.8 ABCC8 INS
26 distal muscular dystrophy 9.7 ABCC8 INS SLC2A2
27 ischemic heart disease 9.7 ABCC8 INS SLC2A2
28 body dysmorphic disorder 9.7 ABCC8 INS SLC2A2
29 hypogonadism 9.7 G6PC INS
30 anuria 9.7 ABCC8 G6PC INS
31 congenital stationary night blindness 9.7 ABCC8 INS SLC2A2
32 neurogenic arthropathy 9.7 ABCC8 G6PC INS
33 peroneal neuropathy 9.5 ABCC8 G6PC INS SLC2A2
34 brain stem glioma 9.5 ABCC8 G6PC INS SLC2A2
35 maturity-onset diabetes of the young 6 9.5 ABCC8 G6PC INS SLC2A2
36 alopecia-mental retardation syndrome 2 9.3 ABCC8 G6PC INS LDHA SLC2A2

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



Diseases related to Fanconi-Bickel Syndrome

Symptoms & Phenotypes for Fanconi-Bickel Syndrome

Symptoms by clinical synopsis from OMIM:

227810 612933

Clinical features from OMIM:

227810 612933

Human phenotypes related to Fanconi-Bickel Syndrome:

32 (show all 28)
id Description HPO Frequency HPO Source Accession
1 myalgia 32 HP:0003326
2 failure to thrive 32 HP:0001508
3 global developmental delay 32 HP:0001263
4 malabsorption 32 HP:0002024
5 renal insufficiency 32 HP:0000083
6 renal tubular dysfunction 32 HP:0000124
7 hypophosphatemia 32 HP:0002148
8 hypokalemia 32 HP:0002900
9 elevated serum creatine phosphokinase 32 HP:0003236
10 increased serum lactate 32 HP:0002151
11 rigidity 32 HP:0002063
12 muscle cramps 32 HP:0003394
13 osteomalacia 32 HP:0002749
14 abdominal distention 32 HP:0003270
15 increased serum pyruvate 32 HP:0003542
16 exercise intolerance 32 HP:0003546
17 glycosuria 32 HP:0003076
18 elevated alkaline phosphatase 32 HP:0003155
19 poor appetite 32 HP:0004396
20 reduced subcutaneous adipose tissue 32 HP:0003758
21 muscle stiffness 32 HP:0003552
22 generalized aminoaciduria 32 HP:0002909
23 hyperphosphaturia 32 HP:0003109
24 impairment of galactose metabolism 32 HP:0004915
25 rhabdomyolysis 32 HP:0003201
26 myoglobinuria 32 HP:0002913
27 hypouricemia 32 HP:0003537
28 chronic acidosis 32 HP:0012468

UMLS symptoms related to Fanconi-Bickel Syndrome:


muscle cramp, muscle rigidity, muscular stiffness, myalgia

MGI Mouse Phenotypes related to Fanconi-Bickel Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.35 INS LDHA SLC2A2 ABCC8 G6PC
2 liver/biliary system MP:0005370 8.92 G6PC INS LDHA SLC2A2

Drugs & Therapeutics for Fanconi-Bickel Syndrome

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Neuroserpin
2 Astragalus Nutraceutical

Interventional clinical trials:


id Name Status NCT ID Phase
1 Genetic Disease Gene Identification Unknown status NCT00916903

Search NIH Clinical Center for Fanconi-Bickel Syndrome

Genetic Tests for Fanconi-Bickel Syndrome

Genetic tests related to Fanconi-Bickel Syndrome:

id Genetic test Affiliating Genes
1 Fanconi-Bickel Syndrome 29 24 SLC2A2
2 Glycogen Storage Disease Xi 29 24 LDHA

Anatomical Context for Fanconi-Bickel Syndrome

MalaCards organs/tissues related to Fanconi-Bickel Syndrome:

39
Liver, Testes, Bone, Kidney, Spleen

Publications for Fanconi-Bickel Syndrome

Articles related to Fanconi-Bickel Syndrome:

(show top 50) (show all 56)
id Title Authors Year
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

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

66
id Symbol AA change Variation ID SNP ID
1 SLC2A2 p.Leu389Pro VAR_018651 rs121909747
2 SLC2A2 p.Pro417Leu VAR_018652 rs121909744
3 SLC2A2 p.Val423Glu VAR_018653 rs28928874

ClinVar genetic disease variations for Fanconi-Bickel Syndrome:

6 (show all 15)
id Gene Variation Type Significance SNP ID Assembly Location
1 LDHA LDHA, 20-BP DEL, EX6 deletion Pathogenic
2 SLC2A2 SLC2A2, 1-BP DEL deletion Pathogenic
3 SLC2A2 NM_000340.1(SLC2A2): c.1093C> T (p.Arg365Ter) single nucleotide variant Pathogenic rs121909742 GRCh37 Chromosome 3, 170716931: 170716931
4 SLC2A2 NM_000340.1(SLC2A2): c.901C> T (p.Arg301Ter) single nucleotide variant Pathogenic rs121909743 GRCh37 Chromosome 3, 170723136: 170723136
5 SLC2A2 SLC2A2, 1405C-T single nucleotide variant Pathogenic
6 SLC2A2 NM_000340.1(SLC2A2): c.1250C> T (p.Pro417Leu) single nucleotide variant Pathogenic rs121909744 GRCh37 Chromosome 3, 170716106: 170716106
7 SLC2A2 NM_000340.1(SLC2A2): c.1259G> A (p.Trp420Ter) single nucleotide variant Pathogenic rs121909745 GRCh37 Chromosome 3, 170716097: 170716097
8 SLC2A2 SLC2A2, 1-BP DEL, 1363G deletion Pathogenic
9 SLC2A2 SLC2A2, 1-BP INS, 793C insertion Pathogenic
10 SLC2A2 SLC2A2, 1264G-A single nucleotide variant Pathogenic
11 SLC2A2 SLC2A2, 469C-T single nucleotide variant Pathogenic
12 SLC2A2 NM_000340.1(SLC2A2): c.1268T> A (p.Val423Glu) single nucleotide variant Pathogenic rs28928874 GRCh37 Chromosome 3, 170716088: 170716088
13 SLC2A2 SLC2A2, IVS2AS, A-G, -2 single nucleotide variant Pathogenic
14 SLC2A2 NM_000340.1(SLC2A2): c.859C> T (p.Gln287Ter) single nucleotide variant Pathogenic rs121909746 GRCh37 Chromosome 3, 170723178: 170723178
15 SLC2A2 NM_000340.1(SLC2A2): c.1166T> C (p.Leu389Pro) single nucleotide variant Pathogenic rs121909747 GRCh37 Chromosome 3, 170716858: 170716858

Copy number variations for Fanconi-Bickel Syndrome from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 32795 1 39600000 43900000 Deletion SLC2A1 GLUT2 deficiency syndrome

Expression for Fanconi-Bickel Syndrome

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

Pathways for Fanconi-Bickel Syndrome

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

(show all 18)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.58 ABCC8 G6PC INS LDHA SLC2A2
2
Show member pathways
12.21 G6PC LDHA SLC2A2
3
Show member pathways
11.98 ABCC8 INS SLC2A2
4
Show member pathways
11.91 ABCC8 INS SLC2A2
5
Show member pathways
11.72 G6PC INS
6 11.69 INS SLC2A2
7
Show member pathways
11.65 INS SLC2A2
8
Show member pathways
11.54 G6PC SLC2A2
9
Show member pathways
11.54 G6PC INS SLC2A2
10
Show member pathways
11.52 INS SLC2A2
11 11.51 INS LDHA
12 11.45 G6PC LDHA SLC2A2
13 11.31 LDHA SLC2A2
14
Show member pathways
11.31 ABCC8 INS SLC2A2
15 11.21 LDHA SLC2A2
16 11.08 G6PC SLC2A2
17 10.57 ABCC8 G6PC INS SLC2A2
18 10.34 INS LDHA SLC2A2

GO Terms for Fanconi-Bickel Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 glucose homeostasis GO:0042593 9.26 G6PC INS
2 regulation of insulin secretion GO:0050796 9.16 ABCC8 SLC2A2
3 carbohydrate metabolic process GO:0005975 9.13 INS LDHA SLC2A2
4 glucose transport GO:0015758 8.8 G6PC INS SLC2A2

Sources for Fanconi-Bickel Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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