MCID: FNC009
MIFTS: 49

Fanconi-Bickel Syndrome malady

Categories: Genetic diseases, Rare diseases, Gastrointestinal diseases, Nephrological diseases, Liver diseases

Aliases & Classifications for Fanconi-Bickel Syndrome

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Aliases & Descriptions for Fanconi-Bickel Syndrome:

Name: Fanconi-Bickel Syndrome 49 11 22 47 67 65
Glycogen Storage Disease Xi 49 11 45 22 67
Hepatorenal Glycogenosis with Renal Fanconi Syndrome 45 22 67
Lactate Dehydrogenase a Deficiency 45 22 67
Fanconi Syndrome with Intestinal Malabsorption and Galactose Intolerance 45 67
Hepatic Glycogenosis with Amino Aciduria and Glucosuria 45 67
Lactate Dehydrogenase Deficiency Type a 45 65
Glycogen Storage Disease 11 67 24
Glycogenosis Fanconi Type 45 67
Pseudo-Phlorizin Diabetes 45 67
 
Hepatic Glycogenosis with Fanconi Nephropathy 67
Hepatic Glycogenesis with Fanconi Nephropathy 22
Glycogenosis with Glucoaminophosphaturia 65
Glycogen Storage Disease Type Xi 22
Fanconi Bickel Syndrome 45
Fanconi-Bickel Disease 24
Glut2 Deficiency 45
Gsd Xi 67
Gsd11 67
Fbs 67

Characteristics:

HPO:

61
fanconi-bickel syndrome:
Inheritance: autosomal recessive inheritance
glycogen storage disease xi:
Inheritance: autosomal recessive inheritance
Onset and clinical course: juvenile onset


Classifications:



External Ids:

MeSH36 D006008
UMLS65 C3495427, C2931743, C3536827

Summaries for Fanconi-Bickel Syndrome

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OMIM:49 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 glycogen storage disease due to glut2 deficiency and fanconi syndrome, and has symptoms including chronic acidosis, impairment of galactose metabolism and poor appetite. An important gene associated with Fanconi-Bickel Syndrome is SLC2A2 (Solute Carrier Family 2 Member 2), and among its related pathways are Type II diabetes mellitus and Integration of energy metabolism. Affiliated tissues include liver, kidney and heart, and related mouse phenotype liver/biliary system.

NIH Rare Diseases:45 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:67 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:49 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 top 50)    (show all 54)
idRelated DiseaseScoreTop Affiliating Genes
1glycogen storage disease due to glut2 deficiency12.5
2fanconi syndrome11.6
3glycogen storage disease due to lactate dehydrogenase m-subunit deficiency11.6
4lactate dehydrogenase deficiency10.6
5leukemia10.5
6neuronitis10.4
7herpes simplex10.4
8cystic fibrosis10.4
9chondrosarcoma10.4
10alcoholic hepatitis10.4
11glomerulonephritis10.4
12hepatitis10.4
13male infertility10.4
14paralytic poliomyelitis10.4
15lymphoblastic leukemia10.4
16interstitial nephritis10.4
17erysipelas10.4
18lymphocytic choriomeningitis10.4
19bronchopneumonia10.4
20crescentic glomerulonephritis10.4
21melanoma10.4
22neuroma10.4
23constipation10.4
24dermatitis10.4
25contact dermatitis10.4
26glioblastoma multiforme10.4
27intracranial hypotension10.4
28poliomyelitis10.4
29infertility10.4
30angiomatous meningioma10.4
31cerebrovascular disease10.4
32thyroiditis10.4
33lung disease10.4
34babesiosis10.4
35muscular dystrophy10.4
36glioblastoma10.4
37glioma10.4
38spitz nevus10.4
39semicircular canal dehiscence syndrome10.4
40neuromyelitis optica10.3
41hyperuricemia10.3
42syncope10.3
43usher syndrome, type 1g9.8ABCC8, SLC2A2
44antidepressant type abuse9.8ABCC8, SLC2A2
45lacrimal gland adenocarcinoma9.8ABCC8, G6PC
46primary hypertrophic osteoarthropathy9.7ABCC8, G6PC
47organic acidemia9.7ABCC8, SLC2A2
48intermittent claudication9.6ABCC8, SLC2A2
49transmitted_by9.6ABCC8, G6PC
50nonphotosensitive trichothiodystrophy9.5ABCC8, 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 chronic acidosis HP:0012468
2 impairment of galactose metabolism HP:0004915
3 poor appetite HP:0004396
4 hypouricemia HP:0003537
5 abdominal distention HP:0003270
6 elevated alkaline phosphatase HP:0003155
7 hyperphosphaturia HP:0003109
8 glycosuria HP:0003076
9 generalized aminoaciduria HP:0002909
10 hypokalemia HP:0002900
11 osteomalacia HP:0002749
12 hypophosphatemia HP:0002148
13 malabsorption HP:0002024
14 failure to thrive HP:0001508
15 global developmental delay HP:0001263
16 decreased subcutaneous fat HP:0001002
17 renal tubular dysfunction HP:0000124
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

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
1AstragalusNutraceutical48

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 Syndrome22 SLC2A2
2 Glycogen Storage Disease Xi22 LDHA

Anatomical Context for Fanconi-Bickel Syndrome

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MalaCards organs/tissues related to Fanconi-Bickel Syndrome:

33
Liver, Kidney, Heart, Breast, Eye, Monocytes, Testes

Animal Models for Fanconi-Bickel Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Fanconi-Bickel Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.5G6PC, LDHA, SLC2A2

Publications for Fanconi-Bickel Syndrome

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Articles related to Fanconi-Bickel Syndrome:

(show all 47)
idTitleAuthorsYear
1
Low amplitude ECG and QRS fragmentation in provocable coved-type ST-segment elevation on surface ECG are strong predictors of a continuum between arrhythmogenic cardiomypathy and Brugada syndrome. (27061648)
2016
2
Sympathetic ophthalmia following a conjunctival flap procedure for corneal perforation. (26976837)
2016
3
Efficacy of diffusion-weighted magnetic resonance imaging in the evaluation of extrahepatic cholestasis-related hepatic fibrosis. (26281340)
2015
4
Does Lymphocytic Colitis Always Present with Normal Endoscopic Findings? (25167800)
2014
5
Inner retinal layer comparisons of eyes with exudative age-related macular degeneration and eyes with age-related macular degeneration and glaucoma. (24146272)
2013
6
Hepatic encephalopathy: etiology, pathogenesis, and clinical signs. (23677822)
2013
7
Advances in myelofibrosis: a clinical case approach. (24091929)
2013
8
Association between TGM5, PPAP2B and PSMA4 polymorphisms and NSCLC in never-smoking Chinese population. (24518713)
2013
9
Platelet-activating factor receptor blockade ameliorates Aggregatibacter actinomycetemcomitans-induced periodontal disease in mice. (24002061)
2013
10
Profound hypertriglyceridemia and weight gain in the first week following initiation of olanzapine: a case report with implications for lipid monitoring guidelines. (23261075)
2013
11
Computed tomographic lymphography for sentinel lymph node biopsy in male breast cancer: report of two cases. (23961415)
2013
12
Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). (22144499)
2012
13
No association of K469E polymorphism of intercellular adhesion molecule-1 with rheumatoid arthritis]. (21287514)
2011
14
Nuclear translocation of glutathione S-transferase I8 is mediated by a non-classical localization signal. (21782793)
2011
15
Local recurrence and multi-organ metastasis of primary retroperitoneal leiomyosarcoma in unusual locations after surgical resection. (22470795)
2011
16
Metabolic syndrome and risk for incident Alzheimer's disease or vascular dementia: the Three-City Study. (18945929)
2009
17
Closer look at genetic testing in long-QT syndrome: will DNA diagnostics ever be enough? (19841296)
2009
18
Localization of human coagulation factor VIII (hFVIII) in transgenic rabbit by FISH-TSA: identification of transgene copy number and transmission to the next generation. (18808737)
2008
19
Ghrelin and Helicobacter pylori infection. (19009647)
2008
20
Disruption of the Flnb gene in mice phenocopies the human disease spondylocarpotarsal synostosis syndrome. (17635842)
2008
21
Centrosome separation driven by actin-microfilaments during mitosis is mediated by centrosome-associated tyrosine-phosphorylated cortactin. (18388321)
2008
22
Fibromuscular differentiation in deeply infiltrating endometriosis is a reaction of resident fibroblasts to the presence of ectopic endometrium. (18716038)
2008
23
Multimodality optical imaging and 18F-FDG uptake in wild-type p53-containing and p53-null human colon tumor xenografts. (17932466)
2007
24
Epididymo-orchitis and testicular abscess caused by Salmonella enteritidis in immunocompromised patients in Kuwait. (16763400)
2006
25
Cell apoptosis induced by a synthetic carbazole compound LCY-2-CHO is mediated through activation of caspase and mitochondrial pathways. (15894295)
2005
26
Downregulation of beta-catenin by p53 involves changes in the rate of beta-catenin phosphorylation and Axin dynamics. (15064706)
2004
27
An animal model of fetishism. (15500813)
2004
28
Lower urinary tract reconstruction for duplicated renal units with ureterocele. Is excision of the ureterocele with reconstruction of the bladder base necessary? (14501647)
2003
29
Incidence and clinical correlates of increased serum creatine kinase levels in persons with spinal cord injury. (12214901)
2002
30
Bisoprolol: a review of its use in chronic heart failure. (12466013)
2002
31
Phacomatosis pigmentokeratotica (Happle) in a 23-year-old man. (12013201)
2002
32
Myc and YY1 mediate activation of the Surf-1 promoter in response to serum growth factors. (10858544)
2000
33
Increased expression of u-PA and u-PAR on monocytes by LDL and Lp(a) lipoproteins--consequences for plasmin generation and monocyte adhesion. (10235446)
1999
34
Production of sleeping-sickness treatment. (10489988)
1999
35
Progesterone receptor variants found in breast cells repress transcription by wild-type receptors. (9598870)
1998
36
Regulation of apoptosis by tyrosine-containing domains of IL-4R alpha: Y497 and Y713, but not the STAT6-docking tyrosines, signal protection from apoptosis. (9670964)
1998
37
The value of antibodies 44-3A6, SM3, HBME-1, and thrombomodulin in differentiating epithelial pleural mesothelioma from lung adenocarcinoma: a comparative study with other commonly used antibodies. (9414183)
1997
38
Combination assay for tumor markers in oral squamous cell carcinoma. (9294507)
1997
39
Isolation and characterisation of human cardiac fibroblasts from explanted adult hearts. (8781221)
1996
40
Intermittent-dose ara-C/daunomycin therapy combined with cyclosporin-A and G-CSF led to a fourth remission in a patient with acute promyelocytic leukemia]. (7563610)
1995
41
Type II muscle fibers are stained by anti-Fas antibody. (8747853)
1995
42
The rate-limiting step in microtubule-stimulated ATP hydrolysis by dimeric kinesin head domains occurs while bound to the microtubule. (8206961)
1994
43
The genotoxicity of the waste water discharged from paraquat manufacturing and its pyridyl components. (7687022)
1993
44
Prolonged neutral endopeptidase inhibition in heart failure. (1655477)
1991
45
Interferon-gamma-activated human granulocytes kill ingested Mycobacterium fortuitum more efficiently than normal granulocytes. (2161344)
1990
46
Atrioventricular canal mimicking tricuspid atresia: echocardiographic and angiographic features. (3676029)
1987
47
Cavernous sinus thrombosis. Report of a case with a brief review of the literature. (5490367)
1970

Variations for Fanconi-Bickel Syndrome

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

67
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:

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

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:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.4ABCC8, SLC2A2
2
Show member pathways
9.4ABCC8, SLC2A2
3
Show member pathways
9.4ABCC8, SLC2A2
49.3LDHA, SLC2A2
59.3LDHA, SLC2A2
69.1G6PC, SLC2A2
7
Show member pathways
8.6ABCC8, G6PC, SLC2A2
88.6ABCC8, G6PC, SLC2A2
98.5G6PC, LDHA, SLC2A2
10
Show member pathways
8.5G6PC, 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:00507969.7ABCC8, SLC2A2
2glucose transportGO:00157589.6G6PC, SLC2A2
3carbohydrate metabolic processGO:00059759.4G6PC, LDHA
4small molecule metabolic processGO:00442818.5G6PC, LDHA, SLC2A2

Sources for Fanconi-Bickel Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet