MCID: FNC040
MIFTS: 47

Fanconi Bickel Syndrome malady

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

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43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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: Fanconi Bickel Syndrome, also known as glycogen storage disease xi, is related to lactate dehydrogenase a deficiency and lactate dehydrogenase deficiency. 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.

Description from OMIM:47 612933,614128,227810

Aliases & Classifications for Fanconi Bickel Syndrome

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Sources:
62UMLS, 43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 49Orphanet, 45Novoseek, 26ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
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


Aliases & Descriptions:

fanconi bickel syndrome 43 20 22
glycogen storage disease xi 43 20 22 47
fanconi-bickel syndrome 47 45
glycogen storage disease due to lactate dehydrogenase m-subunit deficiency 49
fanconi syndrome with intestinal malabsorption and galactose intolerance 43
glycogen storage disease due to lactate dehydrogenase deficiency 49
glycogenosis due to lactate dehydrogenase m-subunit deficiency 49
hepatic glycogenosis with amino aciduria and glucosuria 43
gsd due to lactate dehydrogenase m-subunit deficiency 49
hepatorenal glycogenosis with renal fanconi syndrome 43
glycogenosis due to lactate dehydrogenase deficiency 49
glycogen storage disease due to glut2 deficiency 49
gsd due to lactate dehydrogenase deficiency 49
lactate dehydrogenase deficiency type a 62
glycogenosis due to glut2 deficiency 49
lactate dehydrogenase a deficiency 49
glycogen storage disease type 11 49
bickel-fanconi glycogenosis 49
gsd due to glut2 deficiency 49
glycogenosis fanconi type 43
pseudo-phlorizin diabetes 43
ldh-m subunit deficiency 49
glycogen storage disease 62
fanconi-bickel disease 49
glycogenosis type 11 49
glut2 deficiency 43
ldh deficiency 49
gsd type 11 49


External Ids:

ICD10 via Orphanet26 E74.4, E74.0

Related Diseases for Fanconi Bickel Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Fanconi Bickel Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1lactate dehydrogenase a deficiency10.3
2lactate dehydrogenase deficiency10.3
3rickets10.3
4neonatal diabetes mellitus10.3
5cataract10.3
6diabetes mellitus10.3
7glycogen storage disease10.3
8hyperglycemia10.3
9breast cancer10.0SLC2A2, 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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47OMIM
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Symptoms by clinical synopsis from OMIM:

227810

Clinical features from OMIM:

612933,614128,227810

Drugs & Therapeutics for Fanconi Bickel Syndrome

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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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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20GeneTests, 22GTR
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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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33MalaCards
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MalaCards organs/tissues related to Fanconi Bickel Syndrome:

33
Liver, Kidney

Animal Models for Fanconi Bickel Syndrome or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Fanconi Bickel Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.1SLC2A2, LDHA

Publications for Fanconi Bickel Syndrome

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52PubMed
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Articles related to Fanconi Bickel Syndrome:

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

Variations for Fanconi Bickel Syndrome

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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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:

1 (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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2BioGPS, 15Gene Expression Omnibus DataSets
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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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50PathCards, 55Reactome, 30KEGG, 60Thomson Reuters, 38NCBI BioSystems Database, 53QIAGEN
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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
glycolysis38
gluconeogenesis38
Glycolysis and Gluconeogenesis38
9.1SLC2A2, LDHA
39.1SLC2A2, LDHA

Compounds for genes affiliated with Fanconi Bickel Syndrome

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45Novoseek, 29IUPHAR
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Compounds related to Fanconi Bickel Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1pyruvate459.1SLC2A2, LDHA
2glucose459.1SLC2A2, LDHA
3leucine459.0SLC2A2, LDHA
4atp45 299.8SLC2A2, LDHA

GO Terms for genes affiliated with Fanconi Bickel Syndrome

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16Gene Ontology
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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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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet