FBS
MCID: FNC009
MIFTS: 56

Fanconi-Bickel Syndrome (FBS)

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

Aliases & Classifications for Fanconi-Bickel Syndrome

MalaCards integrated aliases for Fanconi-Bickel Syndrome:

Name: Fanconi-Bickel Syndrome 56 74 58 73 36 29 13 54 6 39 71
Glycogen Storage Disease Xi 56 52 73 29 13 6
Lactate Dehydrogenase a Deficiency 56 52 58 73
Fanconi Syndrome with Intestinal Malabsorption and Galactose Intolerance 56 52 73
Hepatic Glycogenosis with Amino Aciduria and Glucosuria 56 52 73
Hepatorenal Glycogenosis with Renal Fanconi Syndrome 56 52 73
Lactate Dehydrogenase Deficiency Type a 52 6 71
Pseudo-Phlorizin Diabetes 56 52 73
Glycogen Storage Disease Due to Glut2 Deficiency 52 58
Hepatic Glycogenosis with Fanconi Nephropathy 56 73
Glycogen Storage Disease Type Xi 58 36
Glycogenosis Fanconi Type 52 73
Gsd Xi 56 73
Gsd11 56 73
Fbs 56 73
Glycogen Storage Disease Due to Lactate Dehydrogenase M-Subunit Deficiency 58
Glycogenosis Due to Lactate Dehydrogenase M-Subunit Deficiency 58
Gsd Due to Lactate Dehydrogenase M-Subunit Deficiency 58
Glycogenosis with Glucoaminophosphaturia 71
Glycogenosis Due to Glut2 Deficiency 58
Storage Disease, Glycogen, Type Xi 39
Glycogen Storage Disease Type 11 58
Gsd Due to Glut2 Deficiency 58
Glycogen Storage Disease 11 73
Glycogenosis, Fanconi Type 56
Ldh-M Subunit Deficiency 58
Fanconi Bickel Syndrome 52
Glycogenosis Type 11 58
Glut2 Deficiency 52
Gsd Type 11 58
Gsd Type Xi 58

Characteristics:

Orphanet epidemiological data:

58
fanconi-bickel syndrome
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;
glycogen storage disease due to lactate dehydrogenase m-subunit deficiency
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
fanconi-bickel syndrome:
Inheritance autosomal recessive inheritance

glycogen storage disease xi:
Inheritance autosomal recessive inheritance
Onset and clinical course juvenile onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare hepatic diseases
Rare renal diseases
Inborn errors of metabolism


Summaries for Fanconi-Bickel Syndrome

NIH Rare Diseases : 52 Fanconi Bickel syndrome (FBS) is a rare condition characterized by the accumulation of a substance called glycogen in different parts of the body. Glycogen is created when the body needs to store glucose (sugar). When the body needs sugar again, glycogen is transformed back into glucose for use. People with Fanconi Bickel syndrome do not store the appropriate amount of glycogen. Therefore, Fanconi Bickel syndrome is known as a glycogen storage disease . Specifically, glycogen accumulates in the liver and kidneys. Signs and symptoms begin in the first few months of life and include growing slower than expected (failure to thrive ), excessive urination (polyuria ), and weakened bones (rickets ). Later in life, children may have short stature and a swollen liver and spleen (hepatosplenomegaly ). Fanconi Bickel syndrome is caused by mutations to the SLC2A2 gene and is inherited in an autosomal recessive manner. Diagnosis of FBS is based on a clinical examination that shows signs of FBS. The condition can be confirmed by genetic testing . Treatment is focused on relieving symptoms of the condition, particularly the symptoms that affect the kidneys.

MalaCards based summary : Fanconi-Bickel Syndrome, also known as glycogen storage disease xi, is related to carbohydrate metabolic disorder and renal glucosuria, and has symptoms including myalgia, muscle cramp and muscle rigidity. An important gene associated with Fanconi-Bickel Syndrome is SLC2A2 (Solute Carrier Family 2 Member 2), and among its related pathways/superpathways are Glycolysis / Gluconeogenesis and Pyruvate metabolism. The drugs Canagliflozin and Vitamin D have been mentioned in the context of this disorder. Affiliated tissues include bone, liver and kidney, and related phenotypes are global developmental delay and malabsorption

OMIM : 56 Fanconi-Bickel syndrome is a rare but 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 (Manz et al., 1987). Because no underlying enzymatic defect in carbohydrate metabolism had been identified and because metabolism of both glucose and galactose is impaired, a primary defect of monosaccharide transport across the membranes had been suggested (Berry et al., 1995; Fellers et al., 1967; Manz et al., 1987; Odievre, 1966). Use of the term glycogenosis type XI introduced by Hug (1987) is to be discouraged because glycogen accumulation is not due to the proposed functional defect of phosphoglucomutase, an essential enzyme in the common degradative pathways of both glycogen and galactose, but is secondary to nonfunctional glucose transport. (227810)

KEGG : 36 Glycogen storage disease type XI (GSD-XI) is an autosomal recessive disorder of glycogen metabolism. GSD-XI is caused by mutations in the LDHA gene, which encodes lactate dehydrogenase.

UniProtKB/Swiss-Prot : 73 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.

Wikipedia : 74 Fanconi-Bickel syndrome is a form of glycogen storage disease. It is also known for Guido Fanconi and... more...

Related Diseases for Fanconi-Bickel Syndrome

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

(show top 50) (show all 97)
# Related Disease Score Top Affiliating Genes
1 carbohydrate metabolic disorder 30.0 INS G6PC ABCC8
2 renal glucosuria 29.9 SLC2A2 INS
3 glycogen storage disease ia 29.9 INS G6PC
4 glycogen storage disease 29.8 SLC2A2 LDHA INS G6PC
5 diabetes mellitus, ketosis-prone 29.7 INS ABCC8
6 hypoglycemia 29.7 SLC2A2 INS G6PC ABCC8
7 diabetes mellitus, permanent neonatal 1 29.6 INS ABCC8
8 neonatal diabetes mellitus 29.6 SLC2A2 INS ABCC8
9 inherited metabolic disorder 29.5 INS G6PC
10 gestational diabetes 29.5 INS ABCC8
11 hyperglycemia 29.5 SLC2A2 INS G6PC ABCC8
12 diabetes mellitus, permanent neonatal 4 29.4 SLC2A2 INS ABCC8
13 hyperinsulinism 29.3 INS ABCC8
14 glucose intolerance 29.1 INS ABCC8
15 diabetes mellitus, noninsulin-dependent 28.6 SLC2A2 INS G6PC ABCC8
16 fanconi syndrome 11.9
17 lactate dehydrogenase deficiency 11.7
18 muscular phosphorylase kinase deficiency 11.4
19 lactate dehydrogenase b deficiency 11.3
20 rickets 10.9
21 autosomal recessive disease 10.9
22 hypophosphatemic rickets, x-linked recessive 10.8
23 fasting hypoglycemia 10.7
24 fanconi renotubular syndrome 2 10.7
25 renal tubular acidosis 10.7
26 fanconi renotubular syndrome 1 10.5
27 hypophosphatemia 10.5
28 metabolic acidosis 10.5
29 hypercholesterolemia, familial, 1 10.4
30 renal tubular acidosis, proximal 10.4
31 galactosemia i 10.4
32 aminoaciduria 10.4
33 hepatocellular carcinoma 10.2
34 hypertriglyceridemia, familial 10.2
35 galactosemia iii 10.2
36 insulin-like growth factor i 10.2
37 brittle bone disorder 10.2
38 microvascular complications of diabetes 3 10.2
39 microvascular complications of diabetes 4 10.2
40 microvascular complications of diabetes 6 10.2
41 microvascular complications of diabetes 7 10.2
42 renal hypoplasia 10.2
43 nephrolithiasis 10.2
44 situs inversus 10.2
45 cataract 10.2
46 dextrocardia with situs inversus 10.2
47 posttransplant acute limbic encephalitis 10.2
48 liver adenomatosis 10.2
49 glomerular disease 10.2
50 diarrhea 10.2

Graphical network of the top 20 diseases related to Fanconi-Bickel Syndrome:



Diseases related to Fanconi-Bickel Syndrome

Symptoms & Phenotypes for Fanconi-Bickel Syndrome

Human phenotypes related to Fanconi-Bickel Syndrome:

31 (show all 29)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 HP:0001263
2 malabsorption 31 HP:0002024
3 renal tubular dysfunction 31 HP:0000124
4 failure to thrive 31 HP:0001508
5 hypophosphatemia 31 HP:0002148
6 hypokalemia 31 HP:0002900
7 renal insufficiency 31 HP:0000083
8 elevated serum creatine kinase 31 HP:0003236
9 myalgia 31 HP:0003326
10 muscle stiffness 31 HP:0003552
11 increased serum lactate 31 HP:0002151
12 osteomalacia 31 HP:0002749
13 increased serum pyruvate 31 HP:0003542
14 rigidity 31 HP:0002063
15 muscle spasm 31 HP:0003394
16 abdominal distention 31 HP:0003270
17 poor appetite 31 HP:0004396
18 glycosuria 31 HP:0003076
19 generalized aminoaciduria 31 HP:0002909
20 impairment of galactose metabolism 31 HP:0004915
21 hyperphosphaturia 31 HP:0003109
22 acidosis 31 HP:0001941
23 reduced subcutaneous adipose tissue 31 HP:0003758
24 elevated alkaline phosphatase 31 HP:0003155
25 exercise intolerance 31 HP:0003546
26 rhabdomyolysis 31 HP:0003201
27 myoglobinuria 31 HP:0002913
28 hypouricemia 31 HP:0003537
29 chronic acidosis 31 HP:0012468

Symptoms via clinical synopsis from OMIM:

56
Abdomen Liver:
hepatomegaly
abundant intracytoplasmic glycogen seen on em of hepatocytes

Laboratory Abnormalities:
proteinuria
hypophosphatemia
hypokalemia
hypercalciuria
ketonuria
more
Metabolic Features:
recurrent fever

Abdomen External Features:
distended abdomen

Genitourinary Kidneys:
nephromegaly
renal tubular disease
abundant intracytoplasmic glycogen seen on em of renal tubular cells

Skeletal Limbs:
rickets, hyperphosphatemic

Abdomen Gastrointestinal:
feeding difficulties in infancy

Growth Other:
failure to thrive

Muscle Soft Tissue:
thin limbs
sparse subcutaneous fat

Growth Weight:
poor weight gain

Skeletal:
reduced bone density

Neurologic Central Nervous System:
developmental delay (in some patients)

Clinical features from OMIM:

227810 612933

UMLS symptoms related to Fanconi-Bickel Syndrome:


myalgia, muscle cramp, muscle rigidity, muscular stiffness

MGI Mouse Phenotypes related to Fanconi-Bickel Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.35 ABCC8 G6PC INS LDHA SLC2A2
2 liver/biliary system MP:0005370 8.92 G6PC INS LDHA SLC2A2

Drugs & Therapeutics for Fanconi-Bickel Syndrome

Drugs for Fanconi-Bickel Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Canagliflozin Approved Phase 1 842133-18-0
2
Vitamin D Approved, Nutraceutical, Vet_approved Phase 1 1406-16-2
3 Vitamins Phase 1
4 Mitogens Phase 1
5 Hypoglycemic Agents Phase 1
6 Sodium-Glucose Transporter 2 Inhibitors Phase 1
7 Calciferol Phase 1
8 Astragalus

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Acute Effects of Canagliflozin, a Sodium Glucose Co-Transporter 2 (SGLT2) Inhibitor on Bone Metabolism in Healthy Volunteers Completed NCT02404870 Phase 1 Placebo;Canagliflozin
2 Genetic Disease Gene Identification Unknown status NCT00916903

Search NIH Clinical Center for Fanconi-Bickel Syndrome

Genetic Tests for Fanconi-Bickel Syndrome

Genetic tests related to Fanconi-Bickel Syndrome:

# Genetic test Affiliating Genes
1 Fanconi-Bickel Syndrome 29 SLC2A2
2 Glycogen Storage Disease Xi 29 LDHA

Anatomical Context for Fanconi-Bickel Syndrome

MalaCards organs/tissues related to Fanconi-Bickel Syndrome:

40
Bone, Liver, Kidney, Testes, Spleen, Small Intestine

Publications for Fanconi-Bickel Syndrome

Articles related to Fanconi-Bickel Syndrome:

(show top 50) (show all 113)
# Title Authors PMID Year
1
The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome. 56 61 54 6
11810292 2002
2
Mutation analysis of the GLUT2 gene in patients with Fanconi-Bickel syndrome. 56 6 54 61
11044475 2000
3
A mutation in GLUT2, not in phosphorylase kinase subunits, in hepato-renal glycogenosis with Fanconi syndrome and low phosphorylase kinase activity. 54 61 6 56
10987651 1999
4
Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome. 56 6 54 61
9354798 1997
5
Diabetes-like renal glomerular disease in Fanconi-Bickel syndrome. 6 56 54 61
7632512 1995
6
Fanconi-Bickel syndrome presenting in neonatal screening for galactosaemia. 61 56 6
9266402 1997
7
Catch-up growth in Fanconi-Bickel syndrome with uncooked cornstarch. 56 6 61
7564233 1995
8
Fanconi's syndrome with hepatorenal glycogenosis associated with phosphorylase b kinase deficiency. 6 56
8362811 1993
9
Familial Fanconi syndrome with malabsorption and galactose intolerance, normal kinase and transferase activity. A report on two siblings. 56 6
6274135 1981
10
[The glucagon problem in glycogenosis]. 6 56
13480676 1957
11
[Chronic aminoaciduria (amino acid diabetes or nephrotic-glucosuric dwarfism) in glycogen storage and cystine disease]. 56 6
15397919 1949
12
Fanconi-Bickel syndrome--the original patient and his natural history, historical steps leading to the primary defect, and a review of the literature. 54 61 56
9809815 1998
13
Mutation analysis of two Japanese patients with Fanconi-Bickel syndrome. 6 61
10697967 2000
14
Fanconi-Bickel syndrome--a congenital defect of the liver-type facilitative glucose transporter. SSIEM Award. Society for the Study of Inborn Errors of Metabolism. 6 61
9686354 1998
15
Fanconi-Bickel syndrome. 61 56
3153325 1987
16
Fanconi-Bickel syndrome - mutation in SLC2A2 gene. 61 52
24912437 2014
17
Fanconi-Bickel syndrome. 52 61
21327337 2012
18
Fanconi-Bickel syndrome: report of life history and successful pregnancy in an affected patient. 52 61
21271664 2011
19
Analysis of transmembrane segment 8 of the GLUT1 glucose transporter by cysteine-scanning mutagenesis and substituted cysteine accessibility. 6
14688257 2004
20
The GLUT5 hexose transporter is also localized to the basolateral membrane of the human jejunum. 56
7619085 1995
21
A mutation in the Glut2 glucose transporter gene of a diabetic patient abolishes transport activity. 56
8027028 1994
22
Rapid reversible substrate regulation of fructose transporter expression in rat small intestine and kidney. 56
8048533 1994
23
Molecular characterization of gene expression in human lactate dehydrogenase-A deficiency. 6
8327147 1993
24
Genotypic analysis of families with lactate dehydrogenase A (M) deficiency by selective DNA amplification. 6
1959923 1991
25
Analysis of genetic mutations in human lactate dehydrogenase-A(M) deficiency using DNA conformation polymorphism in combination with polyacrylamide gradient gel and silver staining. 6
1953713 1991
26
Molecular characterization of genetic mutation in human lactate dehydrogenase-A (M) deficiency. 6
2334430 1990
27
Proximal renal tubular acidosis associated with glycogen storage disease, type 9. 56
3164568 1988
28
Immunochemical studies on lactate dehydrogenase A subunit deficiencies. 6
3092644 1986
29
Defective galactose oxidation in a patient with glycogen storage disease and Fanconi syndrome. 56
6572355 1983
30
[Hepato-renal glycogenosis with complex tubulopathy. 2. Cases of a new entity]. 56
5220030 1966
31
[GLYCOGENOSIS OF THE LIVER WITH AMINOACIDURIA AND GLYCOSURIA. CLINICAL AND BIOCHEMICAL STUDIES]. 56
14045596 1963
32
Familial renal glucosuria and SGLT2: from a mendelian trait to a therapeutic target. 54 61
19965550 2010
33
GLUT2 mutations, translocation, and receptor function in diet sugar managing. 61 54
19223655 2009
34
A novel mutation of the GLUT2 gene in a Turkish patient with Fanconi-Bickel syndrome. 61 54
19480329 2009
35
Glucose metabolism and insulin secretion in a patient with ABCC8 mutation and Fanconi-Bickel syndrome caused by maternal isodisomy of chromosome 3. 54 61
17539904 2007
36
Elements of diabetic nephropathy in a patient with GLUT 2 deficiency. 61 54
16288895 2005
37
The glucose transporter families SGLT and GLUT: molecular basis of normal and aberrant function. 61 54
15449578 2004
38
A novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome detected by neonatal screening for galactosaemia. 61 54
15243984 2004
39
No mutation in the SLC2A2 ( GLUT2) gene in a Turkish infant with Fanconi-Bickel syndrome. 54 61
12700970 2003
40
Intestinal glucose transport: evidence for a membrane traffic-based pathway in humans. 61 54
12512027 2003
41
A novel mutation (N32K) of GLUT2 gene in a Japanese patient with Fanconi-Bickel syndrome. 54 61
12220445 2002
42
Identification of a novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome presenting with neonatal diabetes mellitus and galactosaemia. 54 61
12029458 2002
43
Single-strand conformation polymorphism analysis of the glucose transporter gene GLUT1 in maturity-onset diabetes of the young. 61 54
11485019 2001
44
A newly recognized missense mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome. 54 61
11079206 2000
45
Neonatal diabetes mellitus with hypergalactosemia. 54 61
10526252 1999
46
Nocturnal enteral nutrition is therapeutic for growth failure in Fanconi-Bickel syndrome. 61
31816104 2020
47
Derivation of a human induced pluripotent stem cell line (QBRIi007-A) from a patient carrying a homozygous intronic mutation (c.613-7T>G) in the SLC2A2 gene. 61
32146263 2020
48
Genetic testing of two Pakistani patients affected with rare autosomal recessive Fanconi-Bickel syndrome and identification of a novel SLC2A2 splice site variant. 61
31473689 2019
49
Functional and structural analysis of rare SLC2A2 variants associated with Fanconi-Bickel syndrome and metabolic traits. 61
30950137 2019
50
Ion Transporters, Channelopathies, and Glucose Disorders. 61
31137773 2019

Variations for Fanconi-Bickel Syndrome

ClinVar genetic disease variations for Fanconi-Bickel Syndrome:

6 (show top 50) (show all 161) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC2A2 NM_000340.2(SLC2A2):c.1356_1357GT[1] (p.Cys453fs)short repeat Pathogenic 522448 rs1553784980 3:170715997-170715998 3:170998208-170998209
2 SLC2A2 NM_000340.2(SLC2A2):c.1043dup (p.Asn349fs)duplication Pathogenic 522997 rs1553785722 3:170720389-170720390 3:171002600-171002601
3 SLC2A2 NM_000340.2(SLC2A2):c.613-1G>CSNV Pathogenic 523034 rs1553786361 3:170723895-170723895 3:171006106-171006106
4 SLC2A2 NM_000340.2(SLC2A2):c.625G>T (p.Glu209Ter)SNV Pathogenic 427888 rs1114167428 3:170723882-170723882 3:171006093-171006093
5 SLC2A2 NM_000340.2(SLC2A2):c.239del (p.Pro80fs)deletion Pathogenic 473039 rs769888108 3:170732390-170732390 3:171014601-171014601
6 SLC2A2 NM_000340.2(SLC2A2):c.156_181dup (p.Ile61fs)duplication Pathogenic 855137 3:170732447-170732448 3:171014658-171014659
7 SLC2A2 NM_000340.2(SLC2A2):c.497-2A>GSNV Pathogenic 850431 3:170725054-170725054 3:171007265-171007265
8 SLC2A2 NM_000340.2(SLC2A2):c.970dup (p.Tyr324fs)duplication Pathogenic 573846 rs1560033414 3:170720462-170720463 3:171002673-171002674
9 SLC2A2 NM_000340.2(SLC2A2):c.708_711del (p.Phe237fs)deletion Pathogenic 579220 rs1560035336 3:170723796-170723799 3:171006007-171006010
10 SLC2A2 SLC2A2, 1-BP DELdeletion Pathogenic 16091
11 SLC2A2 NM_000340.2(SLC2A2):c.1093C>T (p.Arg365Ter)SNV Pathogenic 16092 rs121909742 3:170716931-170716931 3:170999142-170999142
12 SLC2A2 NM_000340.2(SLC2A2):c.901C>T (p.Arg301Ter)SNV Pathogenic 16093 rs121909743 3:170723136-170723136 3:171005347-171005347
13 SLC2A2 SLC2A2, 1405C-TSNV Pathogenic 16094
14 SLC2A2 NM_000340.2(SLC2A2):c.1250C>T (p.Pro417Leu)SNV Pathogenic 16095 rs121909744 3:170716106-170716106 3:170998317-170998317
15 SLC2A2 NM_000340.2(SLC2A2):c.1259G>A (p.Trp420Ter)SNV Pathogenic 16096 rs121909745 3:170716097-170716097 3:170998308-170998308
16 SLC2A2 SLC2A2, 1-BP DEL, 1363Gdeletion Pathogenic 16097
17 SLC2A2 SLC2A2, 1-BP INS, 793Cinsertion Pathogenic 16098
18 SLC2A2 SLC2A2, 1264G-ASNV Pathogenic 16099
19 SLC2A2 NM_000340.2(SLC2A2):c.1268T>A (p.Val423Glu)SNV Pathogenic 16101 rs28928874 3:170716088-170716088 3:170998299-170998299
20 SLC2A2 NM_000340.2(SLC2A2):c.109-2A>GSNV Pathogenic 16102 3:170732522-170732522 3:171014733-171014733
21 SLC2A2 NM_000340.2(SLC2A2):c.859C>T (p.Gln287Ter)SNV Pathogenic 16103 rs121909746 3:170723178-170723178 3:171005389-171005389
22 SLC2A2 NM_000340.2(SLC2A2):c.1166T>C (p.Leu389Pro)SNV Pathogenic 16104 rs121909747 3:170716858-170716858 3:170999069-170999069
23 SLC2A2 SLC2A2, 469C-TSNV Pathogenic 16100
24 LDHA LDHA, 20-BP DEL, EX6deletion Pathogenic 14566
25 SLC2A2 NM_000340.2(SLC2A2):c.775+1G>ASNV Pathogenic/Likely pathogenic 502268 rs756874949 3:170723731-170723731 3:171005942-171005942
26 SLC2A2 NM_000340.2(SLC2A2):c.1246G>A (p.Gly416Ser)SNV Likely pathogenic 445147 rs1553785033 3:170716110-170716110 3:170998321-170998321
27 LDHA NM_005566.4(LDHA):c.439G>T (p.Ala147Ser)SNV Conflicting interpretations of pathogenicity 558834 rs116841148 11:18424407-18424407 11:18402860-18402860
28 SLC2A2 NM_000340.2(SLC2A2):c.1087G>T (p.Ala363Ser)SNV Conflicting interpretations of pathogenicity 199012 rs76362149 3:170716937-170716937 3:170999148-170999148
29 SLC2A2 NM_000340.2(SLC2A2):c.*8del (p.Ter525=)deletion Conflicting interpretations of pathogenicity 255893 rs573575421 3:170715684-170715684 3:170997895-170997895
30 SLC2A2 NM_000340.2(SLC2A2):c.247G>A (p.Glu83Lys)SNV Conflicting interpretations of pathogenicity 255897 rs150851401 3:170732382-170732382 3:171014593-171014593
31 SLC2A2 NM_000340.2(SLC2A2):c.1432C>G (p.Leu478Val)SNV Conflicting interpretations of pathogenicity 344159 rs5397 3:170715835-170715835 3:170998046-170998046
32 LDHA NM_005566.4(LDHA):c.183G>A (p.Glu61=)SNV Conflicting interpretations of pathogenicity 386298 rs149588992 11:18421034-18421034 11:18399487-18399487
33 LDHA NM_005566.4(LDHA):c.285G>A (p.Thr95=)SNV Conflicting interpretations of pathogenicity 392797 rs202160072 11:18422424-18422424 11:18400877-18400877
34 LDHA NM_005566.4(LDHA):c.126+3_126+6deldeletion Uncertain significance 303910 rs776715682 11:18418516-18418519 11:18396969-18396972
35 LDHA NM_005566.4(LDHA):c.*660C>TSNV Uncertain significance 303927 rs765180823 11:18429488-18429488 11:18407941-18407941
36 SLC2A2 NM_000340.2(SLC2A2):c.1295G>A (p.Arg432His)SNV Uncertain significance 344161 rs75144723 3:170716061-170716061 3:170998272-170998272
37 SLC2A2 NM_000340.2(SLC2A2):c.639C>T (p.Gly213=)SNV Uncertain significance 344165 rs886058176 3:170723868-170723868 3:171006079-171006079
38 SLC2A2 NM_000340.2(SLC2A2):c.206C>A (p.Thr69Lys)SNV Uncertain significance 344169 rs779977931 3:170732423-170732423 3:171014634-171014634
39 SLC2A2 NM_000340.2(SLC2A2):c.-48G>ASNV Uncertain significance 344171 rs372965718 3:170744507-170744507 3:171026718-171026718
40 LDHA NM_005566.4(LDHA):c.*586A>GSNV Uncertain significance 303924 rs886048091 11:18429414-18429414 11:18407867-18407867
41 SLC2A2 NM_000340.2(SLC2A2):c.*796T>CSNV Uncertain significance 344144 rs140738490 3:170714896-170714896 3:170997107-170997107
42 SLC2A2 NM_000340.2(SLC2A2):c.*1086G>ASNV Uncertain significance 344140 rs185726034 3:170714606-170714606 3:170996817-170996817
43 SLC2A2 NM_000340.2(SLC2A2):c.*726T>CSNV Uncertain significance 344145 rs886058172 3:170714966-170714966 3:170997177-170997177
44 SLC2A2 NM_000340.2(SLC2A2):c.158G>A (p.Arg53Gln)SNV Uncertain significance 426982 rs145210664 3:170732471-170732471 3:171014682-171014682
45 SLC2A2 NM_000340.2(SLC2A2):c.*7_*8dup (p.Ter525=)duplication Uncertain significance 344158 rs573575421 3:170715683-170715684 3:170997894-170997895
46 LDHA NM_005566.4(LDHA):c.*175C>TSNV Uncertain significance 303918 rs886048089 11:18429003-18429003 11:18407456-18407456
47 LDHA NM_005566.4(LDHA):c.*501C>ASNV Uncertain significance 303922 rs886048090 11:18429329-18429329 11:18407782-18407782
48 LDHA NM_005566.4(LDHA):c.*745T>CSNV Uncertain significance 303931 rs867222703 11:18429573-18429573 11:18408026-18408026
49 LDHA NM_005566.4(LDHA):c.*835A>GSNV Uncertain significance 303933 rs886048092 11:18429663-18429663 11:18408116-18408116
50 LDHA NM_005566.4(LDHA):c.*725T>GSNV Uncertain significance 303930 rs753218262 11:18429553-18429553 11:18408006-18408006

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

73
# Symbol AA change Variation ID SNP ID
1 SLC2A2 p.Leu389Pro VAR_018651 rs121909747
2 SLC2A2 p.Pro417Leu VAR_018652 rs121909744
3 SLC2A2 p.Val423Glu VAR_018653 rs28928874

Copy number variations for Fanconi-Bickel Syndrome from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 32795 1 39600000 43900000 Deletion SLC2A1 GLUT2 deficiency syndrome

Expression for Fanconi-Bickel Syndrome

Search GEO for disease gene expression data for Fanconi-Bickel Syndrome.

Pathways for Fanconi-Bickel Syndrome

Pathways related to Fanconi-Bickel Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Glycolysis / Gluconeogenesis hsa00010
2 Pyruvate metabolism hsa00620
3 Insulin secretion hsa04911
4 Carbohydrate digestion and absorption hsa04973

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

(show all 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.56 SLC2A2 LDHA INS G6PC ABCC8
2
Show member pathways
12.44 SLC2A2 INS ABCC8
3
Show member pathways
12.16 SLC2A2 LDHA G6PC
4
Show member pathways
11.91 SLC2A2 INS ABCC8
5
Show member pathways
11.71 INS G6PC
6 11.69 SLC2A2 INS
7
Show member pathways
11.65 SLC2A2 INS
8 11.58 LDHA INS
9
Show member pathways
11.54 SLC2A2 INS
10
Show member pathways
11.54 SLC2A2 INS G6PC
11
Show member pathways
11.52 SLC2A2 G6PC
12 11.46 SLC2A2 LDHA G6PC
13 11.32 SLC2A2 LDHA
14
Show member pathways
11.31 SLC2A2 INS ABCC8
15 11.19 SLC2A2 LDHA
16 11.1 SLC2A2 G6PC
17 10.57 SLC2A2 INS G6PC ABCC8
18 10.34 SLC2A2 LDHA INS

GO Terms for Fanconi-Bickel Syndrome

Biological processes related to Fanconi-Bickel Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 glucose homeostasis GO:0042593 9.26 INS G6PC
2 response to insulin GO:0032868 9.16 G6PC ABCC8
3 regulation of insulin secretion GO:0050796 8.96 SLC2A2 ABCC8
4 carbohydrate metabolic process GO:0005975 8.8 SLC2A2 LDHA INS

Sources for Fanconi-Bickel Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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