Fanconi-bickel Syndrome malady

NIH Rare Diseases: 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.³⁰

MalaCards: Fanconi-bickel Syndrome, also known as glycogen storage disease xi, is related to glycogen storage disease and neonatal diabetes mellitus. An important gene associated with Fanconi-bickel Syndrome is SLC2A2 (solute carrier family 2 (facilitated glucose transporter), member 2), and among its related pathways are Glucose transport and Type II diabetes mellitus. The compounds streptozotocin and fructose have been mentioned in the context of this disorder. Affiliated tissues include kidney and liver, and related mouse phenotype homeostasis/metabolism.

OMIM: 612933

fanconi-bickel syndrome 7 33 32 glycogen storage disease xi 30 16 33 43 hepatorenal glycogenosis with renal fanconi syndrome 30 16 fanconi bickel syndrome 30 16 fanconi syndrome with intestinal malabsorption and galactose intolerance 30 hepatic glycogenosis with amino aciduria and glucosuria 30 hepatic glycogenesis with fanconi nephropathy 16

glycogenosis with glucoaminophosphaturia 43 lactate dehydrogenase deficiency type a 16 glycogen storage disease type i 43 pseudo-phlorizin diabetes 30 glycogenosis fanconi type 30 glut2 deficiency 30

Diseases related to fanconi-bickel syndrome by text searches and GeneDecks gene sharing:

(show all 40)

id	Related Disease	Score	Top Affiliating Genes
1	glycogen storage disease	34.7	SLC2A2, G6PC, F2
2	neonatal diabetes mellitus	29.2	SLC2A2, ABCC8, F2
3	hyperglycemia	28.9	SLC2A2, G6PC, ABCC8
4	adenoma	28.6	SLC2A2, G6PC, ABCC8, F2
5	diabetes mellitus	28.2	SLC2A2, G6PC, ABCC8, F2
6	galactosemia	12.6	G6PC, SLC2A2
7	nonalcoholic steatohepatitis	12.6	F2, G6PC
8	wilson disease	12.6	F2, G6PC
9	portal hypertension	12.6	G6PC, F2
10	lactic acidosis	12.5	G6PC, F2
11	biliary atresia	12.5	F2, G6PC
12	diabetes mellitus, noninsulin-dependent	12.5	ABCC8, SLC2A2
13	glucose intolerance	12.4	ABCC8, SLC2A2
14	hyperlipidemia	12.3	F2, G6PC
15	liver cirrhosis	12.2	F2, G6PC
16	hyperinsulinism	12.1	ABCC8, G6PC
17	pre-eclampsia	12.0	F2, G6PC
18	morbid obesity	12.0	SLC2A2, ABCC8, F2
19	hypoglycemia	11.9	SLC2A2, G6PC, ABCC8
20	insulinoma	11.9	ABCC8, G6PC, SLC2A2
21	type 2 diabetes mellitus	11.9	ABCC8, G6PC, SLC2A2
22	bilirubin metabolic disorder	11.8	ABCC8, G6PC, SLC2A2
23	insulin resistance	11.7	ABCC8, G6PC, SLC2A2
24	ischemia	11.5	G6PC, ABCC8, F2
25	obesity	11.3	SLC2A2, G6PC, ABCC8, F2
26	adenocarcinoma	11.2	SLC2A2, G6PC, ABCC8, F2
27	pancreatitis	11.1	SLC2A2, G6PC, ABCC8, F2
28	glycogen storage disease i	11.0
29	glucose transporter type 1 deficiency syndrome	9.3
30	lactate dehydrogenase a deficiency	7.8
31	glycogen storage disease v	7.7
32	glycogen storage disease type 1b	7.7
33	hepatitis	7.7
34	hepatic adenoma	7.7
35	x-linked liver glycogenosis type 1	7.7
36	glut1 deficiency syndrome 1	6.6
37	glut1 deficiency syndrome 2	6.6
38	seizures	6.6
39	absence epilepsy	5.7
40	nephropathy	5.7

Clinical features from OMIM: 612933

Approved drugs:

Drug clinical trials:

Genetic tests related to fanconi-bickel syndrome:

id	Genetic test	Affiliating Genes
1	Fanconi-bickel Syndrome clinical/research	SLC2A2, LDHA

MalaCards organs/tissues related to fanconi-bickel syndrome:

²²

MGI Mouse Phenotypes related to fanconi-bickel syndrome:

²⁵

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	homeostasis/metabolism phenotype	MP:0005376	8.0	F2, ABCC8, G6PC, SLC2A2

Articles related to fanconi-bickel syndrome:

(show all 19)

id	Title	Authors	Year	Affiliating Genes
1	Two cases of Fanconi-Bickel syndrome: first report fr om China with novel mutations of SLC2A2 gene. (22145468)	Su Z.... Mal H.M.	2011	SLC2A2
2	A novel mutation of the GLUT2 gene in a Turkish patie nt with Fanconi-Bickel syndrome. (19480329)	SimA9ek E.... Dallar Y.	2009	SLC2A2
3	Hyperglycemia and hypoinsulinemia in patients with Fanconi-Bickel syndrome. (18717244)	Taha D.... Al-Sabban E.	2008	SLC2A2
4	Glucose metabolism and insulin secretion in a patient with ABCC8 mutation and Fanconi-Bickel syndrome caused by maternal isodisomy of chromosome 3. (17539904)	Hoffman T.L.... Wilson T.A.	2007	ABCC8, SLC2A2
5	A novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome detected by neonatal screening for galactosaemia. (15243984)	Peduto A.... Santer R.	2004	SLC2A2
6	No mutation in the SLC2A2 ( GLUT2) gene in a Turkish infant with Fanconi-Bickel syndrome. (12700970)	Ozer E.A.... Ozer E.	2003	SLC2A2
7	A secondary respiratory chain defect in a patient wit h Fanconi-Bickel syndrome. (12408187)	OdiA"vre M.H.... OdiA"vre M.	2002	SLC2A2
8	Fanconi-Bickel syndrome--a congenital defect of facilitative glucose transport. (11949937)	Santer R.... Schaub J.	2002	SLC2A2
9	Identification of a novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome presenting with neonatal diabetes mellitus and galactosaemia. (12029458)	Yoo H.W.... Kim G.H.	2002	F2, SLC2A2
10	A novel mutation (N32K) of GLUT2 gene in a Japanese patient with Fanconi-Bickel syndrome. (12220445)	Matsuura T.... Ohta T.	2002	SLC2A2
11	The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome. (11810292)	Santer R.... Schaub J.	2002	SLC2A2
12	Mutation analysis of two Japanese patients with Fanconi-Bickel syndrome. (10697967)	Akagi M.... Okada S.	2000	SLC2A2
13	A newly recognized missense mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome. (11079206)	Tsuda M.... Owada M.	2000	SLC2A2
14	Mutation analysis of the GLUT2 gene in patients with Fanconi-Bickel syndrome. (11044475)	Sakamoto O.... Iinuma K.	2000	SLC2A2
15	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)	Santer R.... Schaub J.	1998	SLC2A2
16	Fanconi-Bickel syndrome--the original patient and his natural history, historical steps leading to the primary defect, and a review of the literature. (9809815)	Santer R.... Steinmann B.	1998	SLC2A2
17	Fanconi-Bickel syndrome presenting in neonatal screening for galactosaemia. (9266402)	Muller D.... Schaub J.	1997	SLC2A2
18	Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome. (9354798)	Santer R.... Schaub J.	1997	SLC2A2
19	Diabetes-like renal glomerular disease in Fanconi-Bickel syndrome. (7632512)	Berry G.T.... Witzleben C.L.	1995	G6PC

Genes related to fanconi-bickel syndrome according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	SLC2A2	solute carrier family 2 (facilitated glucose transporter), member 2	11.0	Publications
2	G6PC	glucose-6-phosphatase, catalytic subunit	11.0	Publications
3	ABCC8	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	11.0	Publications
4	F2	coagulation factor II (thrombin)	11.0	Publications

Pathways related to fanconi-bickel syndrome according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Glucose transport38	9.3	G6PC, SLC2A2
2	Type II diabetes mellitus20	9.1	ABCC8, SLC2A2
3	Anti-diabetic Drug Potassium Channel Inhibitors Pathway, Pharmacodynamics34	9.0	ABCC8, SLC2A2
4	Carbohydrate digestion and absorption20	9.0	G6PC, SLC2A2

Compounds related to fanconi-bickel syndrome according to GeneDecks:

(show all 18)

id	Compound	Score	Top Affiliating Genes
1	streptozotocin32	9.6	SLC2A2, G6PC
2	fructose32 9 9	11.6	SLC2A2, G6PC
3	phosphoenolpyruvate32 9 9	11.6	G6PC, SLC2A2
4	2-deoxyglucose32	9.6	G6PC, SLC2A2
5	glucose 6-phosphate32 18	10.5	SLC2A2, G6PC
6	galactose32	9.5	G6PC, SLC2A2
7	sulfonylurea32	9.5	ABCC8, SLC2A2
8	mannitol32 9 9	11.4	SLC2A2, G6PC
9	katp32	9.4	SLC2A2, ABCC8
10	pyruvate32	9.3	G6PC, SLC2A2
11	sterol32	9.0	G6PC, SLC2A2
12	glycogen32 18	9.8	ABCC8, G6PC, SLC2A2
13	aspartate32	8.8	F2, ABCC8, G6PC
14	leucine32	8.8	ABCC8, G6PC, SLC2A2
15	arginine32	8.7	ABCC8, G6PC, SLC2A2
16	adp32 18	9.6	G6PC, ABCC8, F2
17	atp32	8.5	ABCC8, G6PC, SLC2A2
18	glucose32	8.4	SLC2A2, G6PC, ABCC8

Biological processes related to fanconi-bickel syndrome according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	hexose transport	GO:008645	9.4	G6PC, SLC2A2
2	glucose transport	GO:015758	9.2	G6PC, SLC2A2
3	energy reserve metabolic process	GO:006112	9.1	ABCC8, SLC2A2
4	regulation of insulin secretion	GO:050796	8.8	ABCC8, SLC2A2
5	carbohydrate metabolic process	GO:005975	8.6	ABCC8, G6PC, SLC2A2
6	transmembrane transport	GO:055085	8.5	SLC2A2, G6PC, ABCC8