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 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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OMIM:52 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 renotubular syndrome 1 and lactate dehydrogenase b deficiency, and has symptoms including renal tubular dysfunction, reduced subcutaneous adipose tissue 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 are Central carbon metabolism in cancer and HIF1Alpha Pathway. Affiliated tissues include liver and kidney, and related mouse phenotypes are homeostasis/metabolism and liver/biliary system.

NIH Rare Diseases:48 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: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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Diseases related to Fanconi-Bickel Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 36)
idRelated DiseaseScoreTop Affiliating Genes
1fanconi renotubular syndrome 111.1
2lactate dehydrogenase b deficiency11.0
3hypophosphatemic rickets10.1
4rickets10.1
5cataract10.0
6glycogen storage disease10.0
7renal tubular acidosis10.0
8metabolic acidosis10.0
9neonatal diabetes mellitus10.0
10hyperglycemia10.0
11brain injury9.8
12leukemia9.8
13conversion disorder9.8
14impotence9.8
15sex differentiation disease9.7G6PC, INS
16toxic megacolon9.7ABCC8, INS
17kidney papillary necrosis9.7ABCC8, G6PC
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
24hyperlipoproteinemia type iv9.6ABCC8, INS
2518p deletion syndrome9.5ABCC8, G6PC
26anatomical narrow angle borderline glaucoma9.5ABCC8, INS
27gestational choriocarcinoma9.4ABCC8, INS
28intraocular lymphoma9.3ABCC8, INS, SLC2A2
29survival motor neuron spinal muscular atrophy9.3ABCC8, INS, SLC2A2
30patellofemoral pain syndrome9.3ABCC8, G6PC, INS
31short bowel syndrome9.2ABCC8, INS
32femoral neuropathy8.9ABCC8, G6PC, INS, SLC2A2
33hypertrichosis8.9ABCC8, G6PC, INS, SLC2A2
34diabetes mellitus, noninsulin-dependent8.9ABCC8, G6PC, INS, SLC2A2
35hepatic adenoma, somatic8.9ABCC8, G6PC, INS, SLC2A2
36retinitis pigmentosa 688.5ABCC8, 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

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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 reduced subcutaneous adipose tissue64 HP:0001002
3 global developmental delay64 HP:0001263
4 failure to thrive64 HP:0001508
5 malabsorption64 HP:0002024
6 hypophosphatemia64 HP:0002148
7 osteomalacia64 HP:0002749
8 hypokalemia64 HP:0002900
9 generalized aminoaciduria64 HP:0002909
10 glycosuria64 HP:0003076
11 hyperphosphaturia64 HP:0003109
12 elevated alkaline phosphatase64 HP:0003155
13 abdominal distention64 HP:0003270
14 hypouricemia64 HP:0003537
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:00053768.2ABCC8, G6PC, INS, LDHA, SLC2A2
2MP:00053708.1G6PC, 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
2AstragalusNutraceutical52

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, Kidney

Publications for Fanconi-Bickel Syndrome

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Articles related to Fanconi-Bickel Syndrome:

(show top 50)    (show all 53)
idTitleAuthorsYear
1
Fanconi Bickel Syndrome with Hypercalciuria due to GLUT 2 Mutation. (27771652)
2016
2
Fanconi-Bickel syndrome in two Palestinian children: marked phenotypic variability with identical mutation. (27487919)
2016
3
Clinical and biochemical signs in Fleckvieh cattle with genetically confirmed Fanconi-Bickel syndrome (cattle homozygous for Fleckvieh haplotype 2). (27169150)
2016
4
Fanconi-Bickel Syndrome: Another Novel Mutation in SLC2A2. (27738794)
2016
5
Fanconi-Bickel Syndrome: Two Pakistani Patients Presenting with Hypophosphatemic Rickets. (27617158)
2016
6
SLC2A2 gene analysis in three Chinese children with Fanconi-Bickel syndrome]. (25919556)
2015
7
Segregation of a novel homozygous 6 nucleotide deletion in GLUT2 gene in a Fanconi-Bickel syndrome family. (25523092)
2015
8
Phenotypic Variability in Patients with Fanconi-Bickel Syndrome with Identical Mutations. (24718840)
2014
9
Acute metabolic acidosis in a GLUT2-deficient patient with Fanconi-Bickel syndrome: new pathophysiology insights. (25165176)
2014
10
Fanconi-Bickel Syndrome - Mutation in SLC2A2 Gene. (24912437)
2014
11
Fanconi-Bickel syndrome versus osteogenesis imperfeeta: An Iranian case with a novel mutation in glucose transporter 2 gene, and review of literature. (23901198)
2013
12
An Indian girl with Fanconi-Bickel syndrome without SLC2A2 gene mutation. (27625848)
2013
13
Fanconi- Bickel Syndrome: mutation in an Indian patient. (21972075)
2012
14
A new mutation of Fanconi-Bickel syndrome with liver failure and pseudotumour cerebri. (23271022)
2012
15
Mutation analysis of the GLUT2 gene in three unrelated Egyptian families with Fanconi-Bickel syndrome: revisited gene atlas for renumbering. (22350464)
2012
16
Fanconi-Bickel syndrome as an example of marked allelic heterogeneity. (24175243)
2012
17
Fanconi-Bickel syndrome: GLUT2 mutations associated with a mild phenotype. (22214819)
2012
18
Transient neonatal diabetes as a presentation of Fanconi- Bickel Syndrome. (23456528)
2012
19
Fanconi-Bickel syndrome and autosomal recessive proximal tubulopathy with hypercalciuria (ARPTH) are allelic variants caused by GLUT2 mutations. (22865906)
2012
20
Fanconi-Bickel syndrome. (21327337)
2012
21
Fanconi-Bickel syndrome and fertility. (21910231)
2011
22
Successful pregnancy in the patient with Fanconi-Bickel syndrome undergoing daily hemodialysis. (21739588)
2011
23
Fanconi-Bickel syndrome in a 3-year-old Indian boy with a novel mutation in the GLUT2 gene. (21625891)
2011
24
Hypophosphatemic rickets: presenting features of fanconi-bickel syndrome. (22937383)
2011
25
Fanconi Bickel Syndrome: Novel Mutations in GLUT 2 Gene Causing a Distinguished Form of Renal Tubular Acidosis in Two Unrelated Egyptian Families. (24533196)
2011
26
Two cases of Fanconi-Bickel syndrome: first report from China with novel mutations of SLC2A2 gene. (22145468)
2011
27
Fanconi-Bickel syndrome: report of life history and successful pregnancy in an affected patient. (21271664)
2011
28
A novel mutation of the GLUT2 gene in a Turkish patient with Fanconi-Bickel syndrome. (19480329)
2009
29
Fanconi-Bickel syndrome--two cases report. (18626436)
2008
30
Hyperglycemia and hypoinsulinemia in patients with Fanconi-Bickel syndrome. (18717244)
2008
31
Glucose metabolism and insulin secretion in a patient with ABCC8 mutation and Fanconi-Bickel syndrome caused by maternal isodisomy of chromosome 3. (17539904)
2007
32
Fanconi-Bickel syndrome. (17413201)
2007
33
Bilateral nuclear cataracts as the first neonatal sign of Fanconi-Bickel syndrome. (16906471)
2006
34
Fanconi-Bickel syndrome in three Turkish patients with different homozygous mutations. (16052858)
2005
35
A novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome detected by neonatal screening for galactosaemia. (15243984)
2004
36
The Fanconi-Bickel syndrome: a case of neonatal onset. (15116130)
2004
37
No mutation in the SLC2A2 ( GLUT2) gene in a Turkish infant with Fanconi-Bickel syndrome. (12700970)
2003
38
A secondary respiratory chain defect in a patient with Fanconi-Bickel syndrome. (12408187)
2002
39
Fanconi-Bickel syndrome--a congenital defect of facilitative glucose transport. (11949937)
2002
40
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
41
A novel mutation (N32K) of GLUT2 gene in a Japanese patient with Fanconi-Bickel syndrome. (12220445)
2002
42
The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome. (11810292)
2002
43
Special feature: pathological case of the month. Glycogen storage disease with renal tubular dysfunction (type XI, Fanconi-Bickel syndrome). (11074862)
2000
44
Mutation analysis of two Japanese patients with Fanconi-Bickel syndrome. (10697967)
2000
45
A newly recognized missense mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome. (11079206)
2000
46
Mutation analysis of the GLUT2 gene in patients with Fanconi-Bickel syndrome. (11044475)
2000
47
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
48
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
49
Fanconi-Bickel syndrome presenting in neonatal screening for galactosaemia. (9266402)
1997
50
Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome. (9354798)
1997

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, EX6deletionPathogenicChr na, -1: -1
2SLC2A2SLC2A2, 1-BP DELdeletionPathogenicChr na, -1: -1
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-TSNVPathogenicChr na, -1: -1
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, 1363GdeletionPathogenicChr na, -1: -1
9SLC2A2SLC2A2, 1-BP INS, 793CinsertionPathogenicChr na, -1: -1
10SLC2A2SLC2A2, 1264G-ASNVPathogenicChr na, -1: -1
11SLC2A2SLC2A2, 469C-TSNVPathogenicChr na, -1: -1
12SLC2A2NM_000340.1(SLC2A2): c.1268T> A (p.Val423Glu)SNVPathogenicrs28928874GRCh37Chr 3, 170716088: 170716088
13SLC2A2SLC2A2, IVS2AS, A-G, -2SNVPathogenicChr na, -1: -1
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 16)
idSuper pathwaysScoreTop Affiliating Genes
19.5LDHA, SLC2A2
29.5LDHA, SLC2A2
39.4G6PC, SLC2A2
4
Show member pathways
9.2INS, SLC2A2
5
Show member pathways
9.2INS, SLC2A2
69.2INS, SLC2A2
79.1INS, LDHA
8
Show member pathways
9.0G6PC, INS
9
Show member pathways
8.9G6PC, LDHA, SLC2A2
108.9G6PC, LDHA, SLC2A2
11
Show member pathways
8.7ABCC8, INS, SLC2A2
12
Show member pathways
8.7ABCC8, INS, SLC2A2
13
Show member pathways
8.7ABCC8, INS, SLC2A2
14
Show member pathways
8.6G6PC, 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
1regulation of insulin secretionGO:005079610.0ABCC8, SLC2A2
2glucose homeostasisGO:00425939.6G6PC, INS
3response to glucoseGO:00097499.5LDHA, SLC2A2
4glucose transportGO:00157589.1G6PC, INS, SLC2A2

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

idNameGO IDScoreTop Affiliating Genes
1insulin receptor bindingGO:00051589.2INS, 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