Fanconi-Bickel Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

FBS MCID: FNC009 MIFTS: 56	Fanconi-Bickel Syndrome (FBS) Categories: Gastrointestinal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs Expand all tables

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Neuronal diseases Liver diseases Nephrological diseases Gastrointestinal diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Other disorders of carbohydrate metabolism

Glycogen storage disease

Orphanet: ⁵⁸

Rare neurological diseases

Rare hepatic diseases

Rare renal diseases

Inborn errors of metabolism

External Ids:

OMIM ⁵⁶ 227810 612933

KEGG ³⁶ H01946 H01947

MeSH ⁴³ D006008

ICD10 via Orphanet ³³ E74.0

UMLS via Orphanet ⁷² C2931743 C3495427

Orphanet ⁵⁸ ORPHA2088 ORPHA284426

MedGen ⁴¹ C2752022 C2931743 C3495427

UMLS ⁷¹ C2931743 C3495427 C3536827

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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...

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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:

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Symptoms & Phenotypes for Fanconi-Bickel Syndrome

Human phenotypes related to Fanconi-Bickel Syndrome:

³¹ (show all 29)

#	Description	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

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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

Canagliflozin

Approved

Phase 1

842133-18-0

Vitamin D

Approved, Nutraceutical, Vet_approved

Phase 1

1406-16-2

Vitamins

Phase 1

Mitogens

Phase 1

Hypoglycemic Agents

Phase 1

Sodium-Glucose Transporter 2 Inhibitors

Phase 1

Calciferol

Phase 1

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

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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

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Anatomical Context for Fanconi-Bickel Syndrome

MalaCards organs/tissues related to Fanconi-Bickel Syndrome:

⁴⁰

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

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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	Santer R...Schaub J	11810292	2002
2	Mutation analysis of the GLUT2 gene in patients with Fanconi-Bickel syndrome. ⁵⁶ ⁶ ⁵⁴ ⁶¹	Sakamoto O...Iinuma K	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	Burwinkel B...Kilimann MW	10987651	1999
4	Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome. ⁵⁶ ⁶ ⁵⁴ ⁶¹	Santer R...Schaub J	9354798	1997
5	Diabetes-like renal glomerular disease in Fanconi-Bickel syndrome. ⁶ ⁵⁶ ⁵⁴ ⁶¹	Berry GT...Witzleben CL	7632512	1995
6	Fanconi-Bickel syndrome presenting in neonatal screening for galactosaemia. ⁶¹ ⁵⁶ ⁶	Muller D...Schaub J	9266402	1997
7	Catch-up growth in Fanconi-Bickel syndrome with uncooked cornstarch. ⁵⁶ ⁶ ⁶¹	Lee PJ...Leonard JV	7564233	1995
8	Fanconi's syndrome with hepatorenal glycogenosis associated with phosphorylase b kinase deficiency. ⁶ ⁵⁶	Sanjad SA...Sakati NA	8362811	1993
9	Familial Fanconi syndrome with malabsorption and galactose intolerance, normal kinase and transferase activity. A report on two siblings. ⁵⁶ ⁶	Aperia A...Zetterstrom R	6274135	1981
10	[The glucagon problem in glycogenosis]. ⁶ ⁵⁶	GITZELMANN R	13480676	1957
11	[Chronic aminoaciduria (amino acid diabetes or nephrotic-glucosuric dwarfism) in glycogen storage and cystine disease]. ⁵⁶ ⁶	FANCONI G...BICKEL H	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	Santer R...Steinmann B	9809815	1998
13	Mutation analysis of two Japanese patients with Fanconi-Bickel syndrome. ⁶ ⁶¹	Akagi M...Okada S	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	Santer R...Schaub J	9686354	1998
15	Fanconi-Bickel syndrome. ⁶¹ ⁵⁶	Manz F...Nutzenadel W	3153325	1987
16	Fanconi-Bickel syndrome - mutation in SLC2A2 gene. ⁶¹ ⁵²	Kehar M...Wadhwa N	24912437	2014
17	Fanconi-Bickel syndrome. ⁵² ⁶¹	Mohandas Nair K...Nampoothiri S	21327337	2012
18	Fanconi-Bickel syndrome: report of life history and successful pregnancy in an affected patient. ⁵² ⁶¹	Pena L...Charrow J	21271664	2011
19	Analysis of transmembrane segment 8 of the GLUT1 glucose transporter by cysteine-scanning mutagenesis and substituted cysteine accessibility. ⁶	Mueckler M...Makepeace C	14688257	2004
20	The GLUT5 hexose transporter is also localized to the basolateral membrane of the human jejunum. ⁵⁶	Blakemore SJ...Hundal HS	7619085	1995
21	A mutation in the Glut2 glucose transporter gene of a diabetic patient abolishes transport activity. ⁵⁶	Mueckler M...Permutt MA	8027028	1994
22	Rapid reversible substrate regulation of fructose transporter expression in rat small intestine and kidney. ⁵⁶	Burant CF...Saxena M	8048533	1994
23	Molecular characterization of gene expression in human lactate dehydrogenase-A deficiency. ⁶	Miyajima H...Kaneko E	8327147	1993
24	Genotypic analysis of families with lactate dehydrogenase A (M) deficiency by selective DNA amplification. ⁶	Maekawa M...Kanno T	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	Maekawa M...Kanno T	1953713	1991
26	Molecular characterization of genetic mutation in human lactate dehydrogenase-A (M) deficiency. ⁶	Maekawa M...Li SS	2334430	1990
27	Proximal renal tubular acidosis associated with glycogen storage disease, type 9. ⁵⁶	Nagai T...Igarashi Y	3164568	1988
28	Immunochemical studies on lactate dehydrogenase A subunit deficiencies. ⁶	Maekawa M...Kanno T	3092644	1986
29	Defective galactose oxidation in a patient with glycogen storage disease and Fanconi syndrome. ⁵⁶	Brivet M...Odievre M	6572355	1983
30	[Hepato-renal glycogenosis with complex tubulopathy. 2. Cases of a new entity]. ⁵⁶	Odievre M	5220030	1966
31	[GLYCOGENOSIS OF THE LIVER WITH AMINOACIDURIA AND GLYCOSURIA. CLINICAL AND BIOCHEMICAL STUDIES]. ⁵⁶	ROTTHAUWE HW...WESEMANN W	14045596	1963
32	Familial renal glucosuria and SGLT2: from a mendelian trait to a therapeutic target. ⁵⁴ ⁶¹	Santer R...Calado J	19965550	2010
33	GLUT2 mutations, translocation, and receptor function in diet sugar managing. ⁶¹ ⁵⁴	Leturque A...Le Gall M	19223655	2009
34	A novel mutation of the GLUT2 gene in a Turkish patient with Fanconi-Bickel syndrome. ⁶¹ ⁵⁴	Simsek E...Dallar Y	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	Hoffman TL...Wilson TA	17539904	2007
36	Elements of diabetic nephropathy in a patient with GLUT 2 deficiency. ⁶¹ ⁵⁴	Berry GT...Santer R	16288895	2005
37	The glucose transporter families SGLT and GLUT: molecular basis of normal and aberrant function. ⁶¹ ⁵⁴	Scheepers A...Schurmann A	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	Peduto A...Santer R	15243984	2004
39	No mutation in the SLC2A2 ( GLUT2) gene in a Turkish infant with Fanconi-Bickel syndrome. ⁵⁴ ⁶¹	Ozer EA...Ozer E	12700970	2003
40	Intestinal glucose transport: evidence for a membrane traffic-based pathway in humans. ⁶¹ ⁵⁴	Santer R...Schaub J	12512027	2003
41	A novel mutation (N32K) of GLUT2 gene in a Japanese patient with Fanconi-Bickel syndrome. ⁵⁴ ⁶¹	Matsuura T...Ohta T	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	Yoo HW...Kim GH	12029458	2002
43	Single-strand conformation polymorphism analysis of the glucose transporter gene GLUT1 in maturity-onset diabetes of the young. ⁶¹ ⁵⁴	Baroni MG...Barbetti F	11485019	2001
44	A newly recognized missense mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome. ⁵⁴ ⁶¹	Tsuda M...Owada M	11079206	2000
45	Neonatal diabetes mellitus with hypergalactosemia. ⁵⁴ ⁶¹	Kentrup H...Heimann G	10526252	1999
46	Nocturnal enteral nutrition is therapeutic for growth failure in Fanconi-Bickel syndrome. ⁶¹	Pennisi A...Schiff M	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	Elsayed AK...Abdelalim EM	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	Batool H...Naeem M	31473689	2019
49	Functional and structural analysis of rare SLC2A2 variants associated with Fanconi-Bickel syndrome and metabolic traits. ⁶¹	Enogieru OJ...Giacomini KM	30950137	2019
50	Ion Transporters, Channelopathies, and Glucose Disorders. ⁶¹	Demirbilek H...Hussain K	31137773	2019

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Genes for Fanconi-Bickel Syndrome

Genes related to Fanconi-Bickel Syndrome (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	SLC2A2	Solute Carrier Family 2 Member 2	Protein Coding	1702.38	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹ Novoseek inferred ⁵⁴ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	6274135 14688257 9686354 (more) 8362811 10987651 7632512 15397919 9266402 11044475 13480676 7564233 10697967 11810292 9354798 11810292 19480329 11079206 15449578 12700970 19223655 19965550 10987651 15243984 16288895 9354798 9809815 10526252 12220445 17539904 11485019 12512027 12029458 11044475
2	LDHA	Lactate Dehydrogenase A	Protein Coding	1350	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation ⁵⁸ Genetic Tests ²⁹	3092644 8327147 1953713 (more) 2334430 1959923
3	G6PC	Glucose-6-Phosphatase Catalytic Subunit	Protein Coding	15.63	Novoseek inferred ⁵⁴ GeneCards inferred via : Publications (show sections)	7632512
4	ABCC8	ATP Binding Cassette Subfamily C Member 8	Protein Coding	6.72	GeneCards inferred via : Publications (show sections)
5	INS	Insulin	Protein Coding	6.72	GeneCards inferred via : Publications (show sections)

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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>C	SNV	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>G	SNV	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 DEL	deletion	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-T	SNV	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, 1363G	deletion	Pathogenic	16097
17	SLC2A2	SLC2A2, 1-BP INS, 793C	insertion	Pathogenic	16098
18	SLC2A2	SLC2A2, 1264G-A	SNV	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>G	SNV	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-T	SNV	Pathogenic	16100
24	LDHA	LDHA, 20-BP DEL, EX6	deletion	Pathogenic	14566
25	SLC2A2	NM_000340.2(SLC2A2):c.775+1G>A	SNV	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+6del	deletion	Uncertain significance	303910	rs776715682	11:18418516-18418519	11:18396969-18396972
35	LDHA	NM_005566.4(LDHA):c.*660C>T	SNV	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>A	SNV	Uncertain significance	344171	rs372965718	3:170744507-170744507	3:171026718-171026718
40	LDHA	NM_005566.4(LDHA):c.*586A>G	SNV	Uncertain significance	303924	rs886048091	11:18429414-18429414	11:18407867-18407867
41	SLC2A2	NM_000340.2(SLC2A2):c.*796T>C	SNV	Uncertain significance	344144	rs140738490	3:170714896-170714896	3:170997107-170997107
42	SLC2A2	NM_000340.2(SLC2A2):c.*1086G>A	SNV	Uncertain significance	344140	rs185726034	3:170714606-170714606	3:170996817-170996817
43	SLC2A2	NM_000340.2(SLC2A2):c.*726T>C	SNV	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>T	SNV	Uncertain significance	303918	rs886048089	11:18429003-18429003	11:18407456-18407456
47	LDHA	NM_005566.4(LDHA):c.*501C>A	SNV	Uncertain significance	303922	rs886048090	11:18429329-18429329	11:18407782-18407782
48	LDHA	NM_005566.4(LDHA):c.*745T>C	SNV	Uncertain significance	303931	rs867222703	11:18429573-18429573	11:18408026-18408026
49	LDHA	NM_005566.4(LDHA):c.*835A>G	SNV	Uncertain significance	303933	rs886048092	11:18429663-18429663	11:18408116-18408116
50	LDHA	NM_005566.4(LDHA):c.*725T>G	SNV	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

Sources

Expression for Fanconi-Bickel Syndrome

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

Sources

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	Metabolism ⁶⁵ Show member pathways Metabolic pathways ³⁶ Metabolism of lipids and lipoproteins ⁶⁵	13.56	SLC2A2 LDHA INS G6PC ABCC8
2	Aldosterone synthesis and secretion ³⁶ Show member pathways Ca2+ activated K+ channels ⁶⁵ Cortisol synthesis and secretion ³⁶ Cushing syndrome ³⁶ Insulin secretion ³⁶ Melanogenesis ³⁶ Thyroid hormone synthesis ³⁶	12.44	SLC2A2 INS ABCC8
3	Glucose metabolism ⁶⁵ Show member pathways gluconeogenesis ¹ Gluconeogenesis ⁶⁵ glycogen biosynthesis ¹ Glycogen breakdown (glycogenolysis) ⁶⁵ Glycogen storage disease type 0 (liver GYS2) ⁶⁵ Glycogen storage disease type II (GAA) ⁶⁵ Glycogen storage disease type IV (GBE1) ⁶⁵ Glycogen synthesis ⁶⁵ glycolysis ¹ Glycolysis ⁶⁵ Glycolysis / Gluconeogenesis ³⁶ Glycolysis and Gluconeogenesis ¹ Glycolysis and gluconeogenesis (short map) ²² Lysosomal glycogen catabolism ⁶⁵ malate-aspartate shuttle ¹	12.16	SLC2A2 LDHA G6PC
4	Integration of energy metabolism ⁶⁵ Show member pathways Acetylcholine regulates insulin secretion ⁶⁵ AMPK inhibits chREBP transcriptional activation activity ⁶⁵ ChREBP activates metabolic gene expression ⁶⁵ PKA-mediated phosphorylation of key metabolic factors ⁶⁵ PP2A-mediated dephosphorylation of key metabolic factors ⁶⁵ Regulation of insulin secretion ⁶⁵	11.91	SLC2A2 INS ABCC8
5	FoxO signaling pathway ³⁶ Show member pathways PLK2 and PLK4 events ¹ Polo-like kinase signaling events in the cell cycle ¹	11.71	INS G6PC
6	Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers ⁶⁴	11.69	SLC2A2 INS
7	Hepatic ABC Transporters ⁶³ Show member pathways MODY (Maturity-Onset Diabetes of Young) ⁶³	11.65	SLC2A2 INS
8	HIF-1 signaling pathway ³⁶	11.58	LDHA INS
9	Regulation of beta-cell development ⁶⁵ Show member pathways Maturity onset diabetes of the young ³⁶ Regulation of gene expression in beta cells ⁶⁵ Regulation of gene expression in early pancreatic precursor cells ⁶⁵ Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells ⁶⁵ Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells ⁶⁵	11.54	SLC2A2 INS
10	Insulin resistance ³⁶ Show member pathways protein O-[N-acetyl]-glucosylation ¹	11.54	SLC2A2 INS G6PC
11	Hexose transport ⁶⁵ Show member pathways Glucose transport ⁶⁵	11.52	SLC2A2 G6PC
12	Glucagon signaling pathway ³⁶	11.46	SLC2A2 LDHA G6PC
13	Central carbon metabolism in cancer ³⁶	11.32	SLC2A2 LDHA
14	Type II diabetes mellitus ³⁶ ¹ Show member pathways Anti-diabetic Drug Potassium Channel Inhibitors Pathway, Pharmacodynamics ⁶⁰	11.31	SLC2A2 INS ABCC8
15	HIF1Alpha Pathway ⁶³	11.19	SLC2A2 LDHA
16	Carbohydrate digestion and absorption ³⁶	11.1	SLC2A2 G6PC
17	FOXA2 and FOXA3 transcription factor networks ¹	10.57	SLC2A2 INS G6PC ABCC8
18	Cori Cycle ¹	10.34	SLC2A2 LDHA INS

Sources

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

Sources for Fanconi-Bickel Syndrome

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

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¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

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²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

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³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

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⁴³ MeSH

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⁴⁵ MGI

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⁴⁷ NCBI Bookshelf

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⁵¹ NIH Clinical Center

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⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Fanconi-Bickel Syndrome (FBS)

Aliases & Classifications for Fanconi-Bickel Syndrome

MalaCards integrated aliases for Fanconi-Bickel Syndrome:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Fanconi-Bickel Syndrome

Related Diseases for Fanconi-Bickel Syndrome

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

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

Symptoms & Phenotypes for Fanconi-Bickel Syndrome

Human phenotypes related to Fanconi-Bickel Syndrome:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

UMLS symptoms related to Fanconi-Bickel Syndrome:

MGI Mouse Phenotypes related to Fanconi-Bickel Syndrome:

Drugs & Therapeutics for Fanconi-Bickel Syndrome

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

Interventional clinical trials:

Genetic Tests for Fanconi-Bickel Syndrome

Genetic tests related to Fanconi-Bickel Syndrome:

Anatomical Context for Fanconi-Bickel Syndrome

MalaCards organs/tissues related to Fanconi-Bickel Syndrome:

Publications for Fanconi-Bickel Syndrome

Articles related to Fanconi-Bickel Syndrome:

Genes for Fanconi-Bickel Syndrome

Genes related to Fanconi-Bickel Syndrome (2 elite genes):

Variations for Fanconi-Bickel Syndrome

ClinVar genetic disease variations for Fanconi-Bickel Syndrome:

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

Copy number variations for Fanconi-Bickel Syndrome from CNVD:

Expression for Fanconi-Bickel Syndrome

Pathways for Fanconi-Bickel Syndrome

Pathways related to Fanconi-Bickel Syndrome according to KEGG:

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

GO Terms for Fanconi-Bickel Syndrome

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

Sources for Fanconi-Bickel Syndrome