MCID: FNC040
MIFTS: 48

Fanconi Bickel Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases, Liver diseases, Nephrological diseases, Metabolic diseases, Gastrointestinal diseases categories
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Summaries for Fanconi Bickel Syndrome

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NIH Rare Diseases:42 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 based summary: Fanconi Bickel Syndrome, also known as glycogen storage disease xi, is related to lactate dehydrogenase a deficiency and lactate dehydrogenase deficiency, and has symptoms including 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 Metabolism and Glycolysis and gluconeogenesis short map . The compounds pyruvate and glucose have been mentioned in the context of this disorder. Affiliated tissues include liver and kidney, and related mouse phenotype liver/biliary system.

Descriptions from OMIM:46 612933,614128,227810

Aliases & Classifications for Fanconi Bickel Syndrome

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 62UMLS, 48Orphanet, 44Novoseek, 26ICD10 via Orphanet
See all sources

Fanconi Bickel Syndrome, Aliases & Descriptions:

Name: Fanconi Bickel Syndrome 42 20 22
Glycogen Storage Disease Xi 42 20 22 46 62
Fanconi-Bickel Syndrome 46 44 62
Hepatorenal Glycogenosis with Renal Fanconi Syndrome 42 62
Pseudo-Phlorizin Diabetes 42 62
Ldh Deficiency 48 62
Glycogen Storage Disease Due to Lactate Dehydrogenase M-Subunit Deficiency 48
Fanconi Syndrome with Intestinal Malabsorption and Galactose Intolerance 42
Glycogen Storage Disease Due to Lactate Dehydrogenase Deficiency 48
Glycogenosis Due to Lactate Dehydrogenase M-Subunit Deficiency 48
Hepatic Glycogenosis with Amino Aciduria and Glucosuria 42
Gsd Due to Lactate Dehydrogenase M-Subunit Deficiency 48
Glycogenosis Due to Lactate Dehydrogenase Deficiency 48
 
Glycogen Storage Disease Due to Glut2 Deficiency 48
Gsd Due to Lactate Dehydrogenase Deficiency 48
Glycogenosis Due to Glut2 Deficiency 48
Lactate Dehydrogenase a Deficiency 48
Glycogen Storage Disease Type 11 48
Bickel-Fanconi Glycogenosis 48
Gsd Due to Glut2 Deficiency 48
Glycogenosis Fanconi Type 42
Ldh-M Subunit Deficiency 48
Fanconi-Bickel Disease 48
Glycogenosis Type 11 48
Glut2 Deficiency 42
Gsd Type 11 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
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


External Ids:

ICD10 via Orphanet26 E74.4, E74.0

Related Diseases for Fanconi Bickel Syndrome

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

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1lactate dehydrogenase a deficiency10.5
2lactate dehydrogenase deficiency10.3
3cataract10.3
4diabetes mellitus10.3
5glycogen storage disease10.3
6renal tubular acidosis10.3
7neonatal diabetes mellitus10.3
8metabolic acidosis10.3
9rickets10.3
10hyperglycemia10.3
11breast cancer9.9SLC2A2, LDHA

Graphical network of 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:

612933,614128,227810

HPO human phenotypes related to Fanconi Bickel Syndrome:

(show all 31)
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 autosomal recessive inheritance HP:0000007
20 renal insufficiency HP:0000083
21 rigidity HP:0002063
22 increased serum lactate HP:0002151
23 myoglobinuria HP:0002913
24 rhabdomyolysis HP:0003201
25 elevated serum creatine phosphokinase HP:0003236
26 myalgia HP:0003326
27 muscle cramps HP:0003394
28 increased serum pyruvate HP:0003542
29 exercise intolerance HP:0003546
30 muscle stiffness HP:0003552
31 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:

32
Liver, Kidney

Animal Models for Fanconi Bickel Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Fanconi Bickel Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.1SLC2A2, LDHA

Publications for Fanconi Bickel Syndrome

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Articles related to Fanconi Bickel Syndrome:

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

Variations for Fanconi Bickel Syndrome

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

64
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 Name 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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Expression patterns in normal tissues for genes affiliated with Fanconi Bickel Syndrome

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Pathways for genes affiliated with Fanconi Bickel Syndrome

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1SLC2A2, LDHA
2
Show member pathways
glycolysis37
gluconeogenesis37
Glycolysis and Gluconeogenesis37
9.1SLC2A2, LDHA
39.1SLC2A2, LDHA

Compounds for genes affiliated with Fanconi Bickel Syndrome

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Sources:
44Novoseek, 28IUPHAR
See all sources

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

idCompoundScoreTop Affiliating Genes
1pyruvate449.1SLC2A2, LDHA
2glucose449.1SLC2A2, LDHA
3leucine449.0SLC2A2, LDHA
4atp44 289.8SLC2A2, LDHA

GO Terms for genes affiliated with Fanconi Bickel Syndrome

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Biological processes related to Fanconi Bickel Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1small molecule metabolic processGO:0442819.1SLC2A2, LDHA

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
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet