MCID: FNC009
MIFTS: 51

Fanconi-Bickel Syndrome 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 50 23 68 12 48 66
Glycogen Storage Disease Xi 50 46 23 68 12
Lactate Dehydrogenase a Deficiency 46 23 52 68
Hepatorenal Glycogenosis with Renal Fanconi Syndrome 46 23 68
Fanconi Syndrome with Intestinal Malabsorption and Galactose Intolerance 46 68
Hepatic Glycogenosis with Amino Aciduria and Glucosuria 46 68
Lactate Dehydrogenase Deficiency Type a 46 66
Glycogen Storage Disease Type Xi 23 52
Glycogen Storage Disease 11 68 25
Pseudo-Phlorizin Diabetes 46 68
Glycogenosis Fanconi Type 46 68
Fanconi-Bickel Disease 52 25
Glycogen Storage Disease Due to Lactate Dehydrogenase M-Subunit Deficiency 52
Glycogenosis Due to Lactate Dehydrogenase M-Subunit Deficiency 52
Gsd Due to Lactate Dehydrogenase M-Subunit Deficiency 52
Glycogen Storage Disease Due to Glut2 Deficiency 52
Hepatic Glycogenosis with Fanconi Nephropathy 68
 
Hepatic Glycogenesis with Fanconi Nephropathy 23
Glycogenosis with Glucoaminophosphaturia 66
Glycogenosis Due to Glut2 Deficiency 52
Glycogen Storage Disease Type 11 52
Bickel-Fanconi Glycogenosis 52
Gsd Due to Glut2 Deficiency 52
Ldh-M Subunit Deficiency 52
Lactate Dehydrogenase a 12
Fanconi Bickel Syndrome 46
Glycogenosis Type 11 52
Glut2 Deficiency 46
Gsd Type 11 52
Gsd Type Xi 52
Gsd Xi 68
Gsd11 68
Fbs 68

Characteristics:

Orphanet epidemiological data:

52
glycogen storage disease type xi:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal
lactate dehydrogenase a deficiency:
Inheritance: Autosomal recessive; Age of onset: Childhood

HPO:

62
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 Orphanet29 E74.0
MeSH37 D006008

Summaries for Fanconi-Bickel Syndrome

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OMIM:50 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 fanconi syndrome and hypophosphatemic rickets, 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 and kidney, and related mouse phenotypes are liver/biliary system and homeostasis/metabolism.

NIH Rare Diseases:46 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:68 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:50 612933

Related Diseases for Fanconi-Bickel Syndrome

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

(show all 38)
idRelated DiseaseScoreTop Affiliating Genes
1fanconi syndrome11.2
2hypophosphatemic rickets10.3
3rickets10.3
4lactate dehydrogenase deficiency10.2
5cataract10.1
6glycogen storage disease10.1
7renal tubular acidosis10.1
8metabolic acidosis10.1
9neonatal diabetes mellitus10.1
10hyperglycemia10.1
11kidney papillary necrosis9.9ABCC8, G6PC
12brain injury9.9
13leukemia9.9
14conversion disorder9.9
15impotence9.9
1618p deletion syndrome9.7ABCC8, G6PC
17toxic megacolon9.7ABCC8, INS
18diabetes mellitus, transient neonatal, 39.7ABCC8, INS
19proximal chromosome 18q deletion syndrome9.7ABCC8, INS
20acute insulin response9.7ABCC8, INS
21diaphanospondylodysostosis9.7ABCC8, INS
22inclusion body myopathy with paget disease of bone and frontotemporal dementia9.6ABCC8, INS
23nephronophthisis 199.6ABCC8, INS
24laryngeal carcinoma9.6ABCC8, INS
25hyperlipoproteinemia type iv9.5ABCC8, INS
26sex differentiation disease9.5G6PC, INS
27anatomical narrow angle borderline glaucoma9.5ABCC8, INS
28gestational choriocarcinoma9.3ABCC8, INS
29intraocular lymphoma9.3ABCC8, INS, SLC2A2
30survival motor neuron spinal muscular atrophy9.3ABCC8, INS, SLC2A2
31adult spinal muscular atrophy9.3ABCC8, INS, SLC2A2
32patellofemoral pain syndrome9.3ABCC8, G6PC, INS
33short bowel syndrome9.1ABCC8, INS
34femoral neuropathy8.8ABCC8, G6PC, INS, SLC2A2
35hypertrichosis8.8ABCC8, G6PC, INS, SLC2A2
36diabetes mellitus, noninsulin-dependent8.8ABCC8, G6PC, INS, SLC2A2
37hepatic adenoma, somatic8.8ABCC8, G6PC, INS, SLC2A2
38retinitis pigmentosa 688.3ABCC8, G6PC, INS, LDHA, SLC2A2

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 renal tubular dysfunction HP:0000124
2 reduced subcutaneous adipose tissue HP:0001002
3 global developmental delay HP:0001263
4 failure to thrive HP:0001508
5 malabsorption HP:0002024
6 hypophosphatemia HP:0002148
7 osteomalacia HP:0002749
8 hypokalemia HP:0002900
9 generalized aminoaciduria HP:0002909
10 glycosuria HP:0003076
11 hyperphosphaturia HP:0003109
12 elevated alkaline phosphatase HP:0003155
13 abdominal distention HP:0003270
14 hypouricemia HP:0003537
15 poor appetite HP:0004396
16 impairment of galactose metabolism HP:0004915
17 chronic acidosis HP:0012468
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:


muscle cramp, muscle rigidity, muscular stiffness, myalgia

Drugs & Therapeutics for Fanconi-Bickel Syndrome

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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 Syndrome25 23 SLC2A2
2 Glycogen Storage Disease Xi25 23 LDHA

Anatomical Context for Fanconi-Bickel Syndrome

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MalaCards organs/tissues related to Fanconi-Bickel Syndrome:

34
Liver, Kidney

Animal Models for Fanconi-Bickel Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Fanconi-Bickel Syndrome:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.6G6PC, INS, LDHA, SLC2A2
2MP:00053767.5ABCC8, G6PC, INS, LDHA, SLC2A2

Publications for Fanconi-Bickel Syndrome

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Articles related to Fanconi-Bickel Syndrome:

(show top 50)    (show all 51)
idTitleAuthorsYear
1
Fanconi-Bickel syndrome in two Palestinian children: marked phenotypic variability with identical mutation. (27487919)
2016
2
Clinical and biochemical signs in Fleckvieh cattle with genetically confirmed Fanconi-Bickel syndrome (cattle homozygous for Fleckvieh haplotype 2). (27169150)
2016
3
SLC2A2 gene analysis in three Chinese children with Fanconi-Bickel syndrome]. (25919556)
2015
4
Segregation of a novel homozygous 6 nucleotide deletion in GLUT2 gene in a Fanconi-Bickel syndrome family. (25523092)
2015
5
Phenotypic Variability in Patients with Fanconi-Bickel Syndrome with Identical Mutations. (24718840)
2014
6
Acute metabolic acidosis in a GLUT2-deficient patient with Fanconi-Bickel syndrome: new pathophysiology insights. (25165176)
2014
7
Fanconi-Bickel Syndrome - Mutation in SLC2A2 Gene. (24912437)
2014
8
Fanconi-Bickel syndrome versus osteogenesis imperfeeta: An Iranian case with a novel mutation in glucose transporter 2 gene, and review of literature. (23901198)
2013
9
An Indian girl with Fanconi-Bickel syndrome without SLC2A2 gene mutation. (27625848)
2013
10
Fanconi- Bickel Syndrome: mutation in an Indian patient. (21972075)
2012
11
A new mutation of Fanconi-Bickel syndrome with liver failure and pseudotumour cerebri. (23271022)
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
Fanconi-Bickel syndrome as an example of marked allelic heterogeneity. (24175243)
2012
14
Fanconi-Bickel syndrome: GLUT2 mutations associated with a mild phenotype. (22214819)
2012
15
Transient neonatal diabetes as a presentation of Fanconi- Bickel Syndrome. (23456528)
2012
16
Fanconi-Bickel syndrome and autosomal recessive proximal tubulopathy with hypercalciuria (ARPTH) are allelic variants caused by GLUT2 mutations. (22865906)
2012
17
Fanconi-Bickel syndrome. (21327337)
2012
18
Fanconi-Bickel syndrome and fertility. (21910231)
2011
19
Successful pregnancy in the patient with Fanconi-Bickel syndrome undergoing daily hemodialysis. (21739588)
2011
20
Fanconi-Bickel syndrome in a 3-year-old Indian boy with a novel mutation in the GLUT2 gene. (21625891)
2011
21
Hypophosphatemic rickets: presenting features of fanconi-bickel syndrome. (22937383)
2011
22
Fanconi Bickel Syndrome: Novel Mutations in GLUT 2 Gene Causing a Distinguished Form of Renal Tubular Acidosis in Two Unrelated Egyptian Families. (24533196)
2011
23
Two cases of Fanconi-Bickel syndrome: first report from China with novel mutations of SLC2A2 gene. (22145468)
2011
24
Fanconi-Bickel syndrome: report of life history and successful pregnancy in an affected patient. (21271664)
2011
25
A novel mutation of the GLUT2 gene in a Turkish patient with Fanconi-Bickel syndrome. (19480329)
2009
26
Fanconi-Bickel syndrome--two cases report. (18626436)
2008
27
Hyperglycemia and hypoinsulinemia in patients with Fanconi-Bickel syndrome. (18717244)
2008
28
Glucose metabolism and insulin secretion in a patient with ABCC8 mutation and Fanconi-Bickel syndrome caused by maternal isodisomy of chromosome 3. (17539904)
2007
29
Fanconi-Bickel syndrome. (17413201)
2007
30
Bilateral nuclear cataracts as the first neonatal sign of Fanconi-Bickel syndrome. (16906471)
2006
31
Fanconi-Bickel syndrome in three Turkish patients with different homozygous mutations. (16052858)
2005
32
A novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome detected by neonatal screening for galactosaemia. (15243984)
2004
33
The Fanconi-Bickel syndrome: a case of neonatal onset. (15116130)
2004
34
No mutation in the SLC2A2 ( GLUT2) gene in a Turkish infant with Fanconi-Bickel syndrome. (12700970)
2003
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
A novel mutation (N32K) of GLUT2 gene in a Japanese patient with Fanconi-Bickel syndrome. (12220445)
2002
39
The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome. (11810292)
2002
40
Special feature: pathological case of the month. Glycogen storage disease with renal tubular dysfunction (type XI, Fanconi-Bickel syndrome). (11074862)
2000
41
Mutation analysis of two Japanese patients with Fanconi-Bickel syndrome. (10697967)
2000
42
A newly recognized missense mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome. (11079206)
2000
43
Mutation analysis of the GLUT2 gene in patients with Fanconi-Bickel syndrome. (11044475)
2000
44
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
45
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
46
Fanconi-Bickel syndrome presenting in neonatal screening for galactosaemia. (9266402)
1997
47
Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome. (9354798)
1997
48
Diabetes-like renal glomerular disease in Fanconi-Bickel syndrome. (7632512)
1995
49
Catch-up growth in Fanconi-Bickel syndrome with uncooked cornstarch. (7564233)
1995
50
Fanconi-Bickel syndrome. (3153325)
1987

Variations for Fanconi-Bickel Syndrome

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

68
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)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

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 16)
idSuper pathwaysScoreTop Affiliating Genes
19.5LDHA, SLC2A2
29.5LDHA, SLC2A2
39.5INS, SLC2A2
4
Show member pathways
9.5INS, SLC2A2
5
Show member pathways
9.5INS, SLC2A2
69.4INS, LDHA
79.4G6PC, SLC2A2
8
Show member pathways
9.3G6PC, INS
9
Show member pathways
8.9G6PC, LDHA, SLC2A2
108.9G6PC, LDHA, SLC2A2
11
Show member pathways
8.9G6PC, INS, SLC2A2
12
Show member pathways
8.7ABCC8, INS, SLC2A2
13
Show member pathways
8.7ABCC8, INS, SLC2A2
14
Show member pathways
8.7ABCC8, INS, SLC2A2
158.1ABCC8, G6PC, INS, SLC2A2
16
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
1response to glucoseGO:00097499.6LDHA, SLC2A2
2regulation of insulin secretionGO:00507969.3ABCC8, SLC2A2
3glucose homeostasisGO:00425939.3G6PC, INS
4glucose transportGO:00157589.3G6PC, INS, SLC2A2

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

idNameGO IDScoreTop Affiliating Genes
1insulin receptor bindingGO:00051589.5INS, SLC2A2

Sources for Fanconi-Bickel Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet