MCID: FNC009
MIFTS: 53

Fanconi-Bickel Syndrome

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

Aliases & Classifications for Fanconi-Bickel Syndrome

MalaCards integrated aliases for Fanconi-Bickel Syndrome:

Name: Fanconi-Bickel Syndrome 57 75 37 29 13 55 6 40 73
Glycogen Storage Disease Xi 57 53 75 29 13 6
Lactate Dehydrogenase a Deficiency 57 53 59 75
Fanconi Syndrome with Intestinal Malabsorption and Galactose Intolerance 57 53 75
Hepatic Glycogenosis with Amino Aciduria and Glucosuria 57 53 75
Hepatorenal Glycogenosis with Renal Fanconi Syndrome 57 53 75
Lactate Dehydrogenase Deficiency Type a 53 6 73
Pseudo-Phlorizin Diabetes 57 53 75
Glycogen Storage Disease Due to Glut2 Deficiency 53 59
Hepatic Glycogenosis with Fanconi Nephropathy 57 75
Glycogen Storage Disease Type Xi 59 37
Glycogenosis Fanconi Type 53 75
Gsd Xi 57 75
Gsd11 57 75
Fbs 57 75
Glycogen Storage Disease Due to Lactate Dehydrogenase M-Subunit Deficiency 59
Glycogenosis Due to Lactate Dehydrogenase M-Subunit Deficiency 59
Gsd Due to Lactate Dehydrogenase M-Subunit Deficiency 59
Glycogenosis with Glucoaminophosphaturia 73
Glycogenosis Due to Glut2 Deficiency 59
Storage Disease, Glycogen, Type Xi 40
Glycogen Storage Disease Type 11 59
Bickel-Fanconi Glycogenosis 59
Gsd Due to Glut2 Deficiency 59
Glycogen Storage Disease 11 75
Glycogenosis, Fanconi Type 57
Ldh-M Subunit Deficiency 59
Fanconi Bickel Syndrome 53
Lactate Dehydrogenase a 13
Fanconi-Bickel Disease 59
Glycogenosis Type 11 59
Glut2 Deficiency 53
Gsd Type 11 59
Gsd Type Xi 59

Characteristics:

Orphanet epidemiological data:

59
glycogen storage disease due to glut2 deficiency
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:

57
Inheritance:
autosomal recessive


HPO:

32
glycogen storage disease xi:
Onset and clinical course juvenile onset
Inheritance autosomal recessive inheritance

fanconi-bickel syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Fanconi-Bickel Syndrome

NIH Rare Diseases : 53 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 neonatal diabetes mellitus and diabetes mellitus, 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/superpathways are Glycolysis / Gluconeogenesis and Pyruvate metabolism. The drugs Neuroserpin and Astragalus have been mentioned in the context of this disorder. Affiliated tissues include liver, testes and kidney, and related phenotypes are renal tubular dysfunction and global developmental delay

OMIM : 57 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)

UniProtKB/Swiss-Prot : 75 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 : 76 Glycogen storage disease type XI is a form of glycogen storage disease. It is also known as... more...

Related Diseases for Fanconi-Bickel Syndrome

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

(show all 38)
# Related Disease Score Top Affiliating Genes
1 neonatal diabetes mellitus 28.7 ABCC8 INS SLC2A2
2 diabetes mellitus 28.1 ABCC8 INS SLC2A2
3 hyperglycemia 28.0 ABCC8 G6PC INS SLC2A2
4 fanconi syndrome 11.2
5 lactate dehydrogenase deficiency 11.2
6 muscular phosphorylase kinase deficiency 11.1
7 hypophosphatemic rickets, x-linked recessive 10.2
8 rickets 10.2
9 hepatocellular carcinoma 10.1
10 infantile liver failure syndrome 1 10.1
11 cataract 10.1
12 glycogen storage disease 10.1
13 renal tubular acidosis 10.1
14 metabolic acidosis 10.1
15 brain injury 9.9
16 leukemia 9.9
17 conversion disorder 9.9
18 impotence 9.9
19 acquired metabolic disease 9.7 INS SLC2A2
20 hyperuricemia 9.7 G6PC INS
21 factitious disorder 9.6 ABCC8 INS
22 hyperinsulinemic hypoglycemia, familial, 2 9.6 ABCC8 INS
23 acute insulin response 9.5 ABCC8 INS
24 monogenic diabetes 9.5 ABCC8 INS
25 pancreatic agenesis 9.5 ABCC8 INS
26 pancreas disease 9.5 ABCC8 INS
27 diabetes mellitus, transient neonatal, 1 9.5 ABCC8 INS
28 hyperinsulinemic hypoglycemia 9.4 ABCC8 INS
29 diabetes mellitus, permanent neonatal 9.4 ABCC8 INS
30 hyperinsulinism 9.1 ABCC8 INS
31 insulinoma 9.1 ABCC8 INS SLC2A2
32 maturity-onset diabetes of the young 9.0 ABCC8 INS SLC2A2
33 endocrine pancreas disease 9.0 ABCC8 G6PC INS
34 carbohydrate metabolic disorder 9.0 ABCC8 G6PC INS
35 hypoglycemia 9.0 ABCC8 G6PC INS
36 beckwith-wiedemann syndrome 8.9 ABCC8 INS
37 glucose metabolism disease 8.5 ABCC8 G6PC INS SLC2A2
38 diabetes mellitus, noninsulin-dependent 8.4 ABCC8 G6PC INS 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

Symptoms via clinical synopsis from OMIM:

57
GI:
malabsorption
poor appetite

Skel:
osteomalacia

Abdomen:
distended abdomen

Neuro:
retarded psychomotor development

Lab:
hypophosphatemia
hypokalemia
generalized aminoaciduria
hyperphosphaturia
glucosuria
more
Growth:
thin limbs
poor weight gain
sparse subcutaneous fat

GU:
renal tubular disease

Metabolic:
impaired galactose metabolism


Clinical features from OMIM:

227810 612933

Human phenotypes related to Fanconi-Bickel Syndrome:

32 (show all 29)
# Description HPO Frequency HPO Source Accession
1 renal tubular dysfunction 32 HP:0000124
2 global developmental delay 32 HP:0001263
3 failure to thrive 32 HP:0001508
4 acidosis 32 HP:0001941
5 malabsorption 32 HP:0002024
6 hypophosphatemia 32 HP:0002148
7 osteomalacia 32 HP:0002749
8 hypokalemia 32 HP:0002900
9 generalized aminoaciduria 32 HP:0002909
10 glycosuria 32 HP:0003076
11 hyperphosphaturia 32 HP:0003109
12 elevated alkaline phosphatase 32 HP:0003155
13 abdominal distention 32 HP:0003270
14 hypouricemia 32 HP:0003537
15 reduced subcutaneous adipose tissue 32 HP:0003758
16 poor appetite 32 HP:0004396
17 impairment of galactose metabolism 32 HP:0004915
18 chronic acidosis 32 HP:0012468
19 renal insufficiency 32 HP:0000083
20 rigidity 32 HP:0002063
21 increased serum lactate 32 HP:0002151
22 myoglobinuria 32 HP:0002913
23 rhabdomyolysis 32 HP:0003201
24 elevated serum creatine phosphokinase 32 HP:0003236
25 myalgia 32 HP:0003326
26 muscle cramps 32 HP:0003394
27 increased serum pyruvate 32 HP:0003542
28 exercise intolerance 32 HP:0003546
29 muscle stiffness 32 HP:0003552

UMLS symptoms related to Fanconi-Bickel Syndrome:


muscle cramp, muscle rigidity, muscular stiffness, myalgia

MGI Mouse Phenotypes related to Fanconi-Bickel Syndrome:

46
# 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):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Neuroserpin
2 Astragalus Nutraceutical

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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:

41
Liver, Testes, Kidney, Spleen, Bone

Publications for Fanconi-Bickel Syndrome

Articles related to Fanconi-Bickel Syndrome:

(show top 50) (show all 56)
# Title Authors Year
1
Glycosuria and hyperglycemia in the neonatal period as the first clinical sign of Fanconi-Bickel syndrome. ( 28493372 )
2017
2
Hepatocellular Carcinoma in Fanconi-Bickel Syndrome. ( 28382841 )
2017
3
Impaired glucose tolerance in Fanconi-Bickel syndrome: Eight patients with two novel mutations. ( 29624224 )
2017
4
Fanconi-Bickel Syndrome: Two Pakistani Patients Presenting with Hypophosphatemic Rickets. ( 27617158 )
2016
5
Fanconi-Bickel syndrome in two Palestinian children: marked phenotypic variability with identical mutation. ( 27487919 )
2016
6
Fanconi Bickel Syndrome with Hypercalciuria due to GLUT 2 Mutation. ( 27771652 )
2016
7
Fanconi-Bickel Syndrome: Another Novel Mutation in SLC2A2. ( 27738794 )
2016
8
Clinical and biochemical signs in Fleckvieh cattle with genetically confirmed Fanconi-Bickel syndrome (cattle homozygous for Fleckvieh haplotype 2). ( 27169150 )
2016
9
Segregation of a novel homozygous 6 nucleotide deletion in GLUT2 gene in a Fanconi-Bickel syndrome family. ( 25523092 )
2015
10
[SLC2A2 gene analysis in three Chinese children with Fanconi-Bickel syndrome]. ( 25919556 )
2015
11
Phenotypic Variability in Patients with Fanconi-Bickel Syndrome with Identical Mutations. ( 24718840 )
2014
12
Fanconi-Bickel Syndrome - Mutation in SLC2A2 Gene. ( 24912437 )
2014
13
Acute metabolic acidosis in a GLUT2-deficient patient with Fanconi-Bickel syndrome: new pathophysiology insights. ( 25165176 )
2014
14
Fanconi-Bickel syndrome versus osteogenesis imperfeeta: An Iranian case with a novel mutation in glucose transporter 2 gene, and review of literature. ( 23901198 )
2013
15
An Indian girl with Fanconi-Bickel syndrome without SLC2A2 gene mutation. ( 27625848 )
2013
16
Fanconi- Bickel Syndrome: mutation in an Indian patient. ( 21972075 )
2012
17
Fanconi-Bickel syndrome and autosomal recessive proximal tubulopathy with hypercalciuria (ARPTH) are allelic variants caused by GLUT2 mutations. ( 22865906 )
2012
18
Fanconi-Bickel syndrome. ( 21327337 )
2012
19
Transient neonatal diabetes as a presentation of Fanconi- Bickel Syndrome. ( 23456528 )
2012
20
Fanconi-Bickel syndrome as an example of marked allelic heterogeneity. ( 24175243 )
2012
21
Mutation analysis of the GLUT2 gene in three unrelated Egyptian families with Fanconi-Bickel syndrome: revisited gene atlas for renumbering. ( 22350464 )
2012
22
A new mutation of Fanconi-Bickel syndrome with liver failure and pseudotumour cerebri. ( 23271022 )
2012
23
Fanconi-Bickel syndrome: GLUT2 mutations associated with a mild phenotype. ( 22214819 )
2012
24
Successful pregnancy in the patient with Fanconi-Bickel syndrome undergoing daily hemodialysis. ( 21739588 )
2011
25
Fanconi-Bickel syndrome and fertility. ( 21910231 )
2011
26
Fanconi Bickel Syndrome: Novel Mutations in GLUT 2 Gene Causing a Distinguished Form of Renal Tubular Acidosis in Two Unrelated Egyptian Families. ( 24533196 )
2011
27
Two cases of Fanconi-Bickel syndrome: first report from China with novel mutations of SLC2A2 gene. ( 22145468 )
2011
28
Hypophosphatemic rickets: presenting features of fanconi-bickel syndrome. ( 22937383 )
2011
29
Fanconi-Bickel syndrome: report of life history and successful pregnancy in an affected patient. ( 21271664 )
2011
30
Fanconi-Bickel syndrome in a 3-year-old Indian boy with a novel mutation in the GLUT2 gene. ( 21625891 )
2011
31
A novel mutation of the GLUT2 gene in a Turkish patient with Fanconi-Bickel syndrome. ( 19480329 )
2009
32
Fanconi-Bickel syndrome--two cases report. ( 18626436 )
2008
33
Hyperglycemia and hypoinsulinemia in patients with Fanconi-Bickel syndrome. ( 18717244 )
2008
34
Glucose metabolism and insulin secretion in a patient with ABCC8 mutation and Fanconi-Bickel syndrome caused by maternal isodisomy of chromosome 3. ( 17539904 )
2007
35
Fanconi-Bickel syndrome. ( 17413201 )
2007
36
Bilateral nuclear cataracts as the first neonatal sign of Fanconi-Bickel syndrome. ( 16906471 )
2006
37
Fanconi-Bickel syndrome in three Turkish patients with different homozygous mutations. ( 16052858 )
2005
38
The Fanconi-Bickel syndrome: a case of neonatal onset. ( 15116130 )
2004
39
A novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome detected by neonatal screening for galactosaemia. ( 15243984 )
2004
40
No mutation in the SLC2A2 ( GLUT2) gene in a Turkish infant with Fanconi-Bickel syndrome. ( 12700970 )
2003
41
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
42
The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome. ( 11810292 )
2002
43
A novel mutation (N32K) of GLUT2 gene in a Japanese patient with Fanconi-Bickel syndrome. ( 12220445 )
2002
44
Fanconi-Bickel syndrome--a congenital defect of facilitative glucose transport. ( 11949937 )
2002
45
A secondary respiratory chain defect in a patient with Fanconi-Bickel syndrome. ( 12408187 )
2002
46
A newly recognized missense mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome. ( 11079206 )
2000
47
Mutation analysis of two Japanese patients with Fanconi-Bickel syndrome. ( 10697967 )
2000
48
Special feature: pathological case of the month. Glycogen storage disease with renal tubular dysfunction (type XI, Fanconi-Bickel syndrome). ( 11074862 )
2000
49
Mutation analysis of the GLUT2 gene in patients with Fanconi-Bickel syndrome. ( 11044475 )
2000
50
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

Variations for Fanconi-Bickel Syndrome

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

75
# 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

ClinVar genetic disease variations for Fanconi-Bickel Syndrome:

6
(show top 50) (show all 182)
# Gene Variation Type Significance SNP ID Assembly Location
1 LDHA LDHA, 20-BP DEL, EX6 deletion Pathogenic
2 SLC2A2 SLC2A2, 1-BP DEL deletion Pathogenic
3 SLC2A2 NM_000340.1(SLC2A2): c.1093C> T (p.Arg365Ter) single nucleotide variant Pathogenic rs121909742 GRCh37 Chromosome 3, 170716931: 170716931
4 SLC2A2 NM_000340.1(SLC2A2): c.1093C> T (p.Arg365Ter) single nucleotide variant Pathogenic rs121909742 GRCh38 Chromosome 3, 170999142: 170999142
5 SLC2A2 NM_000340.1(SLC2A2): c.901C> T (p.Arg301Ter) single nucleotide variant Pathogenic rs121909743 GRCh37 Chromosome 3, 170723136: 170723136
6 SLC2A2 NM_000340.1(SLC2A2): c.901C> T (p.Arg301Ter) single nucleotide variant Pathogenic rs121909743 GRCh38 Chromosome 3, 171005347: 171005347
7 SLC2A2 SLC2A2, 1405C-T single nucleotide variant Pathogenic
8 SLC2A2 NM_000340.1(SLC2A2): c.1250C> T (p.Pro417Leu) single nucleotide variant Pathogenic rs121909744 GRCh37 Chromosome 3, 170716106: 170716106
9 SLC2A2 NM_000340.1(SLC2A2): c.1250C> T (p.Pro417Leu) single nucleotide variant Pathogenic rs121909744 GRCh38 Chromosome 3, 170998317: 170998317
10 SLC2A2 NM_000340.1(SLC2A2): c.1259G> A (p.Trp420Ter) single nucleotide variant Pathogenic rs121909745 GRCh37 Chromosome 3, 170716097: 170716097
11 SLC2A2 NM_000340.1(SLC2A2): c.1259G> A (p.Trp420Ter) single nucleotide variant Pathogenic rs121909745 GRCh38 Chromosome 3, 170998308: 170998308
12 SLC2A2 SLC2A2, 1-BP DEL, 1363G deletion Pathogenic
13 SLC2A2 SLC2A2, 1-BP INS, 793C insertion Pathogenic
14 SLC2A2 SLC2A2, 1264G-A single nucleotide variant Pathogenic
15 SLC2A2 SLC2A2, 469C-T single nucleotide variant Pathogenic
16 SLC2A2 NM_000340.1(SLC2A2): c.1268T> A (p.Val423Glu) single nucleotide variant Pathogenic rs28928874 GRCh37 Chromosome 3, 170716088: 170716088
17 SLC2A2 NM_000340.1(SLC2A2): c.1268T> A (p.Val423Glu) single nucleotide variant Pathogenic rs28928874 GRCh38 Chromosome 3, 170998299: 170998299
18 SLC2A2 SLC2A2, IVS2AS, A-G, -2 single nucleotide variant Pathogenic
19 SLC2A2 NM_000340.1(SLC2A2): c.859C> T (p.Gln287Ter) single nucleotide variant Pathogenic rs121909746 GRCh37 Chromosome 3, 170723178: 170723178
20 SLC2A2 NM_000340.1(SLC2A2): c.859C> T (p.Gln287Ter) single nucleotide variant Pathogenic rs121909746 GRCh38 Chromosome 3, 171005389: 171005389
21 SLC2A2 NM_000340.1(SLC2A2): c.1166T> C (p.Leu389Pro) single nucleotide variant Pathogenic rs121909747 GRCh37 Chromosome 3, 170716858: 170716858
22 SLC2A2 NM_000340.1(SLC2A2): c.1166T> C (p.Leu389Pro) single nucleotide variant Pathogenic rs121909747 GRCh38 Chromosome 3, 170999069: 170999069
23 SLC2A2 NM_000340.1(SLC2A2): c.1087G> T (p.Ala363Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs76362149 GRCh37 Chromosome 3, 170716937: 170716937
24 SLC2A2 NM_000340.1(SLC2A2): c.1087G> T (p.Ala363Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs76362149 GRCh38 Chromosome 3, 170999148: 170999148
25 SLC2A2 NM_000340.1(SLC2A2): c.*8delA deletion Uncertain significance rs764176766 GRCh37 Chromosome 3, 170715684: 170715684
26 SLC2A2 NM_000340.1(SLC2A2): c.*8delA deletion Uncertain significance rs764176766 GRCh38 Chromosome 3, 170997895: 170997895
27 SLC2A2 NM_000340.1(SLC2A2): c.1069-9T> C single nucleotide variant Benign/Likely benign rs5407 GRCh37 Chromosome 3, 170716964: 170716964
28 SLC2A2 NM_000340.1(SLC2A2): c.1069-9T> C single nucleotide variant Benign/Likely benign rs5407 GRCh38 Chromosome 3, 170999175: 170999175
29 SLC2A2 NM_000340.1(SLC2A2): c.776-15C> T single nucleotide variant Benign rs5406 GRCh37 Chromosome 3, 170723276: 170723276
30 SLC2A2 NM_000340.1(SLC2A2): c.776-15C> T single nucleotide variant Benign rs5406 GRCh38 Chromosome 3, 171005487: 171005487
31 SLC2A2 NM_000340.1(SLC2A2): c.247G> A (p.Glu83Lys) single nucleotide variant Uncertain significance rs150851401 GRCh38 Chromosome 3, 171014593: 171014593
32 SLC2A2 NM_000340.1(SLC2A2): c.247G> A (p.Glu83Lys) single nucleotide variant Uncertain significance rs150851401 GRCh37 Chromosome 3, 170732382: 170732382
33 SLC2A2 NM_000340.1(SLC2A2): c.*1164T> C single nucleotide variant Uncertain significance rs886058171 GRCh38 Chromosome 3, 170996739: 170996739
34 SLC2A2 NM_000340.1(SLC2A2): c.*1164T> C single nucleotide variant Uncertain significance rs886058171 GRCh37 Chromosome 3, 170714528: 170714528
35 SLC2A2 NM_000340.1(SLC2A2): c.*909C> T single nucleotide variant Likely benign rs77733690 GRCh38 Chromosome 3, 170996994: 170996994
36 SLC2A2 NM_000340.1(SLC2A2): c.*909C> T single nucleotide variant Likely benign rs77733690 GRCh37 Chromosome 3, 170714783: 170714783
37 SLC2A2 NM_000340.1(SLC2A2): c.*607delG deletion Uncertain significance rs563605045 GRCh38 Chromosome 3, 170997296: 170997296
38 SLC2A2 NM_000340.1(SLC2A2): c.*607delG deletion Uncertain significance rs563605045 GRCh37 Chromosome 3, 170715085: 170715085
39 SLC2A2 NM_000340.1(SLC2A2): c.*356A> T single nucleotide variant Likely benign rs7610064 GRCh38 Chromosome 3, 170997547: 170997547
40 SLC2A2 NM_000340.1(SLC2A2): c.*356A> T single nucleotide variant Likely benign rs7610064 GRCh37 Chromosome 3, 170715336: 170715336
41 SLC2A2 NM_000340.1(SLC2A2): c.1402C> G (p.Leu468Val) single nucleotide variant Uncertain significance rs140138702 GRCh37 Chromosome 3, 170715865: 170715865
42 SLC2A2 NM_000340.1(SLC2A2): c.1402C> G (p.Leu468Val) single nucleotide variant Uncertain significance rs140138702 GRCh38 Chromosome 3, 170998076: 170998076
43 SLC2A2 NM_000340.1(SLC2A2): c.1221T> C (p.Phe407=) single nucleotide variant Uncertain significance rs775605288 GRCh38 Chromosome 3, 170998346: 170998346
44 SLC2A2 NM_000340.1(SLC2A2): c.1221T> C (p.Phe407=) single nucleotide variant Uncertain significance rs775605288 GRCh37 Chromosome 3, 170716135: 170716135
45 SLC2A2 NM_000340.1(SLC2A2): c.803_805delATG (p.Asp268del) deletion Uncertain significance rs774721090 GRCh38 Chromosome 3, 171005443: 171005445
46 SLC2A2 NM_000340.1(SLC2A2): c.803_805delATG (p.Asp268del) deletion Uncertain significance rs774721090 GRCh37 Chromosome 3, 170723232: 170723234
47 SLC2A2 NM_000340.1(SLC2A2): c.580C> G (p.Leu194Val) single nucleotide variant Uncertain significance rs779065938 GRCh38 Chromosome 3, 171007180: 171007180
48 SLC2A2 NM_000340.1(SLC2A2): c.580C> G (p.Leu194Val) single nucleotide variant Uncertain significance rs779065938 GRCh37 Chromosome 3, 170724969: 170724969
49 SLC2A2 NM_000340.1(SLC2A2): c.496+6_496+7dupTC duplication Likely benign rs111737375 GRCh38 Chromosome 3, 171009951: 171009952
50 SLC2A2 NM_000340.1(SLC2A2): c.496+6_496+7dupTC duplication Likely benign rs111737375 GRCh37 Chromosome 3, 170727740: 170727741

Copy number variations for Fanconi-Bickel Syndrome from CNVD:

7
# CNVD ID Chromosom 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:

37
# 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
13.52 ABCC8 G6PC INS LDHA SLC2A2
2
Show member pathways
12.58 ABCC8 INS SLC2A2
3
Show member pathways
12.19 G6PC LDHA SLC2A2
4
Show member pathways
11.91 ABCC8 INS SLC2A2
5
Show member pathways
11.72 G6PC INS
6 11.69 INS SLC2A2
7
Show member pathways
11.65 INS SLC2A2
8
Show member pathways
11.54 G6PC SLC2A2
9
Show member pathways
11.54 G6PC INS SLC2A2
10 11.52 INS LDHA
11
Show member pathways
11.51 INS SLC2A2
12 11.45 G6PC LDHA SLC2A2
13
Show member pathways
11.31 ABCC8 INS SLC2A2
14 11.29 LDHA SLC2A2
15 11.19 LDHA SLC2A2
16 11.05 G6PC SLC2A2
17 10.57 ABCC8 G6PC INS SLC2A2
18 10.34 INS LDHA SLC2A2

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 G6PC INS
2 response to glucose GO:0009749 9.16 INS LDHA
3 regulation of insulin secretion GO:0050796 8.96 ABCC8 SLC2A2
4 carbohydrate metabolic process GO:0005975 8.8 INS LDHA SLC2A2

Sources for Fanconi-Bickel Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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