FBP1D
MCID: FRC001
MIFTS: 47

Fructose-1,6-Bisphosphatase Deficiency (FBP1D)

Categories: Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Fructose-1,6-Bisphosphatase Deficiency

MalaCards integrated aliases for Fructose-1,6-Bisphosphatase Deficiency:

Name: Fructose-1,6-Bisphosphatase Deficiency 57 12 76 53 59 75 37 15
Fructose-1,6-Diphosphatase Deficiency 12 59 44 73
Baker-Winegrad Disease 53 73
Fbp1d 57 75
Fructose 1 Phosphate Aldolase Deficiency 12
Hereditary Fructose Intolerance Syndrome 73
Fructose 1,6 Diphosphatase Deficiency 53
Fbpase Deficiency 59

Characteristics:

Orphanet epidemiological data:

59
fructose-1,6-bisphosphatase deficiency
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Italy); Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in newborns or infants
episodes triggered by fasting, illness, fever
patients show sorbitol and glycerol intolerance


HPO:

32
fructose-1,6-bisphosphatase deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Inborn errors of metabolism


Summaries for Fructose-1,6-Bisphosphatase Deficiency

NIH Rare Diseases : 53 Fructose-1,6-bisphosphatase deficiency is an inherited metabolic disorder in which the body cannot properly make glucose. Glucose is the main type of sugar in the blood and a primary source of energy for the body's cells. Without treatment, affected people can experience hypoglycemia and metabolic acidosis on fasting, episodes of hyperventilation, suspension of breathing (apnea), and elevated levels of ketones in their blood (ketosis).  Fructose-1,6-bisphosphatase deficiency is inherited in an autosomal recessive manner. Inherited mutations in the FBP1 gene cause a deficiency of the enzyme fructose-1,6-bisphosphatase. This deficiency, in turn, results in impaired production of glucose.  This disorder can be treated by complete avoidance of fructose and its related sugars, as well as by avoiding prolonged periods of fasting. Typically, having of small amounts of fructose and related sugars may be tolerated in most patients with fructose-1,6-bisphosphatase deficiency. No other specific medical therapy is generally required.

MalaCards based summary : Fructose-1,6-Bisphosphatase Deficiency, also known as fructose-1,6-diphosphatase deficiency, is related to hypoglycemia and lactic acidosis, and has symptoms including seizures, vomiting and dyspnea. An important gene associated with Fructose-1,6-Bisphosphatase Deficiency is FBP1 (Fructose-Bisphosphatase 1), and among its related pathways/superpathways are Glycolysis / Gluconeogenesis and Metabolism. Affiliated tissues include monocytes, liver and kidney, and related phenotypes are seizures and muscular hypotonia

Disease Ontology : 12 A carbohydrate metabolic disorder that has material basis in a deficiency of fructose-1,6-bisphosphatase resulting in hypoglycemia and metabolic acidosis on fasting due to insufficient fructose bisphosphatase for gluconeogenesis.

OMIM : 57 Fructose-1,6-bisphosphatase deficiency is an autosomal recessive disorder characterized by impaired gluconeogenesis. Patients present with hypoglycemia and metabolic acidosis on fasting and may have episodes of hyperventilation, apnea, hypoglycemia, and ketosis. Although the disorder may be lethal in the newborn period, proper treatment yields an excellent prognosis (Kikawa et al., 1997; Matsuura et al., 2002). (229700)

UniProtKB/Swiss-Prot : 75 Fructose-1,6-bisphosphatase deficiency: An autosomal recessive metabolic disorder characterized by impaired gluconeogenesis, and episodes of hypoglycemia and metabolic acidosis that can be lethal in newborn infants or young children.

Wikipedia : 76 Fructose bisphosphatase (EC 3.1.3.11) is an enzyme that converts fructose-1,6-bisphosphate to fructose... more...

Related Diseases for Fructose-1,6-Bisphosphatase Deficiency

Diseases related to Fructose-1,6-Bisphosphatase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 hypoglycemia 30.1 FBP1 G6PC GCG
2 lactic acidosis 10.5
3 fructose intolerance, hereditary 10.3
4 tyrosinosis 10.3
5 reye syndrome 10.3
6 growth hormone deficiency 10.3
7 glycogen storage disease 10.3
8 metabolic acidosis 10.3
9 glycogen storage disease ia 10.0 ALDOB G6PC G6PC3
10 albinism, oculocutaneous, type iv 9.9 G6PC G6PC3
11 carbohydrate metabolic disorder 9.9 ALDOB CLIC1 G6PC
12 hyperinsulinemic hypoglycemia, familial, 7 9.9 ALDOB GCG
13 glycogen storage disease vi 9.8 G6PC GCG
14 glycogen storage disease iii 9.8 ALDOB G6PC GCG

Graphical network of the top 20 diseases related to Fructose-1,6-Bisphosphatase Deficiency:



Diseases related to Fructose-1,6-Bisphosphatase Deficiency

Symptoms & Phenotypes for Fructose-1,6-Bisphosphatase Deficiency

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
coma
lethargy
hypotonia

Respiratory:
dyspnea
apnea
hyperventilation

Neurologic Behavioral Psychiatric Manifestations:
irritability

Laboratory Abnormalities:
increased urinary glycerol
decreased fbp1 enzyme activity

Abdomen Liver:
hepatomegaly

Metabolic Features:
hypoglycemia
metabolic acidosis
ketosis

Cardiovascular Heart:
tachycardia


Clinical features from OMIM:

229700

Human phenotypes related to Fructose-1,6-Bisphosphatase Deficiency:

32 (show all 16)
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 muscular hypotonia 32 HP:0001252
3 hepatomegaly 32 HP:0002240
4 fever 32 HP:0001945
5 dyspnea 32 HP:0002094
6 hypoglycemia 32 HP:0001943
7 irritability 32 HP:0000737
8 apnea 32 HP:0002104
9 coma 32 HP:0001259
10 lethargy 32 HP:0001254
11 metabolic acidosis 32 HP:0001942
12 generalized hypotonia 32 HP:0001290
13 tachycardia 32 HP:0001649
14 ketosis 32 HP:0001946
15 hyperventilation 32 HP:0002883
16 increased urinary glycerol 32 HP:0040301

UMLS symptoms related to Fructose-1,6-Bisphosphatase Deficiency:


seizures, vomiting, dyspnea, abdominal pain, apnea, lethargy, nausea, icterus

GenomeRNAi Phenotypes related to Fructose-1,6-Bisphosphatase Deficiency according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance GR00251-A-1 9.7 ALDOB CLIC1 F7 FBP2 G6PC3 GNGT1
2 Decreased shRNA abundance GR00251-A-2 9.7 ALDOB CLIC1 F7 FBP2 G6PC3 GNGT1

Drugs & Therapeutics for Fructose-1,6-Bisphosphatase Deficiency

Search Clinical Trials , NIH Clinical Center for Fructose-1,6-Bisphosphatase Deficiency

Cochrane evidence based reviews: fructose-1,6-diphosphatase deficiency

Genetic Tests for Fructose-1,6-Bisphosphatase Deficiency

Anatomical Context for Fructose-1,6-Bisphosphatase Deficiency

MalaCards organs/tissues related to Fructose-1,6-Bisphosphatase Deficiency:

41
Monocytes, Liver, Kidney, Testes, Neutrophil

Publications for Fructose-1,6-Bisphosphatase Deficiency

Articles related to Fructose-1,6-Bisphosphatase Deficiency:

(show top 50) (show all 60)
# Title Authors Year
1
Fructose-1,6-bisphosphatase deficiency caused by a novel homozygous Alu element insertion in the FBP1 gene and delayed diagnosis. ( 28599390 )
2017
2
Clinical and Molecular Characterization of Patients with Fructose 1,6-Bisphosphatase Deficiency. ( 28420223 )
2017
3
A Japanese boy with fructose-1,6-bisphosphatase deficiency who had a novel<i>FBP1</i>mutation (p.Phe90Val). ( 29026278 )
2017
4
A Chinese Adult Patient with Fructose 1,6-bisphosphatase Deficiency. ( 28776561 )
2017
5
Fructose-1,6-bisphosphatase deficiency as aA cause of recurrent hypoglycemia and metabolic acidosis: Clinical and molecular findings in Malaysian patients. ( 29203193 )
2017
6
A summary of molecular genetic findings in fructose-1,6-bisphosphatase deficiency with a focus on a common long-range deletion and the role of MLPA analysis. ( 27101822 )
2016
7
Pitfall in the Diagnosis of Fructose-1,6-Bisphosphatase Deficiency: Difficulty in Detecting Glycerol-3-Phosphate with Solvent Extraction in Urinary GC/MS Analysis. ( 26549536 )
2015
8
Fructose 1,6-bisphosphatase deficiency: clinical, biochemical and genetic features in French patients. ( 25601412 )
2015
9
Fructose-1,6-bisphosphatase deficiency: a case of a successful pregnancy by closely monitoring metabolic control. ( 24470127 )
2014
10
Fructose-1,6-diphosphatase deficiency: a treatable neurometabolic disorder. ( 25246452 )
2014
11
Transient pseudo-hypertriglyceridemia: a useful biochemical marker of fructose-1,6-bisphosphatase deficiency. ( 23881342 )
2013
12
Effect of phosphoglycerate mutase and fructose 1,6-bisphosphatase deficiency on symbiotic Burkholderia phymatum. ( 22282515 )
2012
13
A potential role for muscle in glucose homeostasis: in vivo kinetic studies in glycogen storage disease type 1a and fructose-1,6-bisphosphatase deficiency. ( 20127282 )
2010
14
Fructose 1,6-bisphosphatase deficiency: enzyme and mutation analysis performed on calcitriol-stimulated monocytes with a note on long-term prognosis. ( 20151204 )
2010
15
Novel FBP1 gene mutations in Arab patients with fructose-1,6-bisphosphatase deficiency. ( 19259699 )
2009
16
Three successful pregnancies through dietary management of fructose-1,6-bisphosphatase deficiency. ( 17705024 )
2007
17
[Fructose 1,6-bisphosphatase deficiency as a cause of recessive serious hypoglycaemia]. ( 17125659 )
2006
18
Fructose-1,6-diphosphatase deficiency: a rare cause of prolonged prothrombin time. ( 15064857 )
2004
19
Intravenous glycerol therapy should not be used in patients with unrecognized fructose-1,6-bisphosphatase deficiency. ( 12654061 )
2003
20
Fructose 1,6 diphosphatase deficiency in a Turkish infant. ( 12898237 )
2003
21
Diagnosis of fructose-1,6-bisphosphatase deficiency using cultured lymphocyte fraction: a secure and noninvasive alternative to liver biopsy. ( 11999979 )
2002
22
Mutation spectrum in patients with fructose-1,6-bisphosphatase deficiency. ( 11286391 )
2001
23
False positive fructose loading: a pitfall in the diagnosis of fructose-1,6-bisphosphatase deficiency. ( 11032338 )
2000
24
Fructose-1,6-diphosphatase deficiency and glyceroluria: one possible etiology for GIS. ( 10870852 )
2000
25
Novel mutations in patients with fructose-1,6-bisphosphatase deficiency. ( 10234608 )
1999
26
Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency. ( 9382095 )
1997
27
Identification of a genetic mutation in a family with fructose-1,6- bisphosphatase deficiency. ( 7763253 )
1995
28
Impaired ketogenesis in fructose-1,6-bisphosphatase deficiency: a pitfall in the investigation of hypoglycaemia. ( 7623439 )
1995
29
Human fructose-1,6-bisphosphatase gene (FBP1): exon-intron organization, localization to chromosome bands 9q22.2-q22.3, and mutation screening in subjects with fructose-1,6-bisphosphatase deficiency. ( 7558035 )
1995
30
Defective neutrophil activity in fructose-1,6-diphosphatase deficiency. ( 7564236 )
1995
31
Fructose-1,6-bisphosphatase deficiency: severe phenotype with normal leukocyte enzyme activity. ( 7807945 )
1994
32
cDNA sequences encoding human fructose 1,6-bisphosphatase from monocytes, liver and kidney: application of monocytes to molecular analysis of human fructose 1,6-bisphosphatase deficiency. ( 8135811 )
1994
33
Diagnosis of fructose-1,6-bisphosphatase deficiency using leukocytes: normal leukocyte enzyme activity in three female patients. ( 8384909 )
1993
34
Urinary sugar phosphates and related organic acids in fructose-1,6-diphosphatase deficiency. ( 8412001 )
1993
35
Detection of heterozygotes for fructose-1,6-diphosphatase deficiency by measuring fructose-1,6-diphosphatase activity in monocytes cultured with calcitriol. ( 8513571 )
1993
36
Fructose and glucagon loading in siblings with fructose-1,6-diphosphatase deficiency in fed state. ( 1434510 )
1992
37
Fructose-1,6-diphosphatase deficiency in Israel. ( 1995492 )
1991
38
Clinical and biochemical observations on three cases of fructose-1,6-diphosphatase deficiency. ( 2122081 )
1990
39
Fructose-1,6-diphosphatase deficiency: a 20-year follow-up. ( 2916480 )
1989
40
Hepatic metabolites and uric acid excretion in fructose-1,6-diphosphatase deficiency. ( 3148073 )
1988
41
Glycerol-3-phosphate excretion in fructose-1,6-diphosphatase deficiency. ( 3031364 )
1986
42
Fructose-1,6-diphosphatase deficiency: glycerol excretion during fasting test. ( 2995038 )
1985
43
Biochemical observations on a case of hepatic fructose-1,6-diphosphatase deficiency. ( 3023747 )
1985
44
Fructose-1,6-diphosphatase deficiency: diagnosis using leukocytes and detection of heterozygotes with radiochemical and spectrophotometric methods. ( 3023748 )
1985
45
Detection of heterozygotes for fructose 1,6-diphosphatase deficiency by measuring fructose 1,6-diphosphatase activity in their cultured peripheral lymphocytes. ( 6088124 )
1984
46
Muscle fructose 1,6-diphosphatase deficiency associated with an atypical central core disease. ( 6253603 )
1980
47
Hypoglycemia and lactic acidosis associated with fructose-1,6-diphosphatase deficiency. ( 221637 )
1979
48
Deficiency of glucose-6-phosphate dehydrogenase found in a case of hepatic fructose-1,6-diphosphatase deficiency. ( 230449 )
1979
49
Fructose-1,6-diphosphatase deficiency, hypoglycemia, and response to folate therapy in a mother and her daughter. ( 207269 )
1978
50
Anesthetic management of a patient with hereditary fructose-1, 6-diphosphatase deficiency. ( 212965 )
1978

Variations for Fructose-1,6-Bisphosphatase Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Fructose-1,6-Bisphosphatase Deficiency:

75
# Symbol AA change Variation ID SNP ID
1 FBP1 p.Gly164Ser VAR_002380 rs121918188
2 FBP1 p.Ala177Asp VAR_002381 rs121918189
3 FBP1 p.Phe194Ser VAR_038812 rs121918191
4 FBP1 p.Pro284Arg VAR_038813 rs121918192

ClinVar genetic disease variations for Fructose-1,6-Bisphosphatase Deficiency:

6 (show top 50) (show all 101)
# Gene Variation Type Significance SNP ID Assembly Location
1 FBP1 NM_000507.3(FBP1): c.960_961insG (p.Ser321Valfs) insertion Pathogenic rs757653154 GRCh37 Chromosome 9, 97365719: 97365720
2 FBP1 NM_000507.3(FBP1): c.960_961insG (p.Ser321Valfs) insertion Pathogenic rs757653154 GRCh38 Chromosome 9, 94603437: 94603438
3 FBP1 NM_000507.3(FBP1): c.490G> A (p.Gly164Ser) single nucleotide variant Pathogenic rs121918188 GRCh37 Chromosome 9, 97372280: 97372280
4 FBP1 NM_000507.3(FBP1): c.490G> A (p.Gly164Ser) single nucleotide variant Pathogenic rs121918188 GRCh38 Chromosome 9, 94609998: 94609998
5 FBP1 NM_001127628.1(FBP1): c.530C> A (p.Ala177Asp) single nucleotide variant Pathogenic rs121918189 GRCh37 Chromosome 9, 97372240: 97372240
6 FBP1 NM_001127628.1(FBP1): c.530C> A (p.Ala177Asp) single nucleotide variant Pathogenic rs121918189 GRCh38 Chromosome 9, 94609958: 94609958
7 FBP1 NM_001127628.1(FBP1): c.88G> T (p.Glu30Ter) single nucleotide variant Pathogenic rs121918190 GRCh37 Chromosome 9, 97401505: 97401505
8 FBP1 NM_001127628.1(FBP1): c.88G> T (p.Glu30Ter) single nucleotide variant Pathogenic rs121918190 GRCh38 Chromosome 9, 94639223: 94639223
9 FBP1 NM_001127628.1(FBP1): c.581T> C (p.Phe194Ser) single nucleotide variant Pathogenic rs121918191 GRCh37 Chromosome 9, 97369221: 97369221
10 FBP1 NM_001127628.1(FBP1): c.581T> C (p.Phe194Ser) single nucleotide variant Pathogenic rs121918191 GRCh38 Chromosome 9, 94606939: 94606939
11 FBP1 NM_001127628.1(FBP1): c.851C> G (p.Pro284Arg) single nucleotide variant Pathogenic rs121918192 GRCh37 Chromosome 9, 97365829: 97365829
12 FBP1 NM_001127628.1(FBP1): c.851C> G (p.Pro284Arg) single nucleotide variant Pathogenic rs121918192 GRCh38 Chromosome 9, 94603547: 94603547
13 FBP1 NM_000507.3(FBP1): c.237C> T (p.Asn79=) single nucleotide variant Conflicting interpretations of pathogenicity rs201591116 GRCh37 Chromosome 9, 97382707: 97382707
14 FBP1 NM_000507.3(FBP1): c.237C> T (p.Asn79=) single nucleotide variant Conflicting interpretations of pathogenicity rs201591116 GRCh38 Chromosome 9, 94620425: 94620425
15 FBP1 NM_000507.3(FBP1): c.276G> T (p.Thr92=) single nucleotide variant Benign/Likely benign rs16910744 GRCh37 Chromosome 9, 97382668: 97382668
16 FBP1 NM_000507.3(FBP1): c.276G> T (p.Thr92=) single nucleotide variant Benign/Likely benign rs16910744 GRCh38 Chromosome 9, 94620386: 94620386
17 FBP1 NM_000507.3(FBP1): c.697T> A (p.Phe233Ile) single nucleotide variant Benign rs2297085 GRCh37 Chromosome 9, 97369105: 97369105
18 FBP1 NM_000507.3(FBP1): c.697T> A (p.Phe233Ile) single nucleotide variant Benign rs2297085 GRCh38 Chromosome 9, 94606823: 94606823
19 FBP1 NM_000507.3(FBP1): c.670G> A (p.Val224Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs140222720 GRCh37 Chromosome 9, 97369132: 97369132
20 FBP1 NM_000507.3(FBP1): c.670G> A (p.Val224Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs140222720 GRCh38 Chromosome 9, 94606850: 94606850
21 FBP1 NM_000507.3(FBP1): c.355G> A (p.Asp119Asn) single nucleotide variant Pathogenic/Likely pathogenic rs758609113 GRCh37 Chromosome 9, 97380121: 97380121
22 FBP1 NM_000507.3(FBP1): c.355G> A (p.Asp119Asn) single nucleotide variant Pathogenic/Likely pathogenic rs758609113 GRCh38 Chromosome 9, 94617839: 94617839
23 FBP1 NM_000507.3(FBP1): c.334-15T> C single nucleotide variant Conflicting interpretations of pathogenicity rs370920869 GRCh38 Chromosome 9, 94617875: 94617875
24 FBP1 NM_000507.3(FBP1): c.334-15T> C single nucleotide variant Conflicting interpretations of pathogenicity rs370920869 GRCh37 Chromosome 9, 97380157: 97380157
25 FBP1 NM_000507.3(FBP1): c.*21C> T single nucleotide variant Benign/Likely benign rs9695 GRCh37 Chromosome 9, 97365642: 97365642
26 FBP1 NM_000507.3(FBP1): c.*21C> T single nucleotide variant Benign/Likely benign rs9695 GRCh38 Chromosome 9, 94603360: 94603360
27 FBP1 NM_000507.3(FBP1): c.960A> G (p.Gly320=) single nucleotide variant Benign rs1769257 GRCh38 Chromosome 9, 94603438: 94603438
28 FBP1 NM_000507.3(FBP1): c.960A> G (p.Gly320=) single nucleotide variant Benign rs1769257 GRCh37 Chromosome 9, 97365720: 97365720
29 FBP1 NM_000507.3(FBP1): c.705+14C> T single nucleotide variant Benign/Likely benign rs2297084 GRCh37 Chromosome 9, 97369083: 97369083
30 FBP1 NM_000507.3(FBP1): c.705+14C> T single nucleotide variant Benign/Likely benign rs2297084 GRCh38 Chromosome 9, 94606801: 94606801
31 FBP1 NM_000507.3(FBP1): c.653G> A (p.Arg218Lys) single nucleotide variant Benign rs1769259 GRCh37 Chromosome 9, 97369149: 97369149
32 FBP1 NM_000507.3(FBP1): c.653G> A (p.Arg218Lys) single nucleotide variant Benign rs1769259 GRCh38 Chromosome 9, 94606867: 94606867
33 FBP1 NM_000507.3(FBP1): c.651C> T (p.Ala217=) single nucleotide variant Benign/Likely benign rs1042144 GRCh37 Chromosome 9, 97369151: 97369151
34 FBP1 NM_000507.3(FBP1): c.651C> T (p.Ala217=) single nucleotide variant Benign/Likely benign rs1042144 GRCh38 Chromosome 9, 94606869: 94606869
35 FBP1 NM_000507.3(FBP1): c.426+7C> T single nucleotide variant Benign/Likely benign rs8192689 GRCh37 Chromosome 9, 97380043: 97380043
36 FBP1 NM_000507.3(FBP1): c.426+7C> T single nucleotide variant Benign/Likely benign rs8192689 GRCh38 Chromosome 9, 94617761: 94617761
37 FBP1 NM_000507.3(FBP1): c.697T> C (p.Phe233Leu) single nucleotide variant Uncertain significance rs2297085 GRCh38 Chromosome 9, 94606823: 94606823
38 FBP1 NM_000507.3(FBP1): c.697T> C (p.Phe233Leu) single nucleotide variant Uncertain significance rs2297085 GRCh37 Chromosome 9, 97369105: 97369105
39 FBP1 NM_000507.3(FBP1): c.14C> A (p.Ala5Glu) single nucleotide variant Uncertain significance rs759615686 GRCh38 Chromosome 9, 94639297: 94639297
40 FBP1 NM_000507.3(FBP1): c.14C> A (p.Ala5Glu) single nucleotide variant Uncertain significance rs759615686 GRCh37 Chromosome 9, 97401579: 97401579
41 FBP1 NM_000507.3(FBP1): c.-194C> T single nucleotide variant Likely benign rs2296707 GRCh37 Chromosome 9, 97401786: 97401786
42 FBP1 NM_000507.3(FBP1): c.-194C> T single nucleotide variant Likely benign rs2296707 GRCh38 Chromosome 9, 94639504: 94639504
43 FBP1 NM_000507.3(FBP1): c.*248delA deletion Likely benign rs11351544 GRCh37 Chromosome 9, 97365415: 97365415
44 FBP1 NM_000507.3(FBP1): c.*248delA deletion Likely benign rs11351544 GRCh38 Chromosome 9, 94603133: 94603133
45 FBP1 NM_000507.3(FBP1): c.731G> A (p.Arg244Gln) single nucleotide variant Uncertain significance rs775808681 GRCh38 Chromosome 9, 94605551: 94605551
46 FBP1 NM_000507.3(FBP1): c.731G> A (p.Arg244Gln) single nucleotide variant Uncertain significance rs775808681 GRCh37 Chromosome 9, 97367833: 97367833
47 FBP1 NM_000507.3(FBP1): c.-54C> A single nucleotide variant Uncertain significance rs1057515690 GRCh38 Chromosome 9, 94639364: 94639364
48 FBP1 NM_000507.3(FBP1): c.-54C> A single nucleotide variant Uncertain significance rs1057515690 GRCh37 Chromosome 9, 97401646: 97401646
49 FBP1 NM_000507.3(FBP1): c.-238G> A single nucleotide variant Uncertain significance rs974736435 GRCh37 Chromosome 9, 97401830: 97401830
50 FBP1 NM_000507.3(FBP1): c.-238G> A single nucleotide variant Uncertain significance rs974736435 GRCh38 Chromosome 9, 94639548: 94639548

Expression for Fructose-1,6-Bisphosphatase Deficiency

Search GEO for disease gene expression data for Fructose-1,6-Bisphosphatase Deficiency.

Pathways for Fructose-1,6-Bisphosphatase Deficiency

Pathways related to Fructose-1,6-Bisphosphatase Deficiency according to KEGG:

37
# Name Kegg Source Accession
1 Glycolysis / Gluconeogenesis hsa00010

Pathways related to Fructose-1,6-Bisphosphatase Deficiency according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.74 ALDOB BPGM FBP1 FBP2 G6PC G6PC3
2
Show member pathways
12.58 FBP1 FBP2 G6PC G6PC3
3
Show member pathways
12.21 ALDOB BPGM FBP1 FBP2 G6PC G6PC3
4
Show member pathways
12.08 FBP1 FBP2 G6PC G6PC3
5
Show member pathways
11.96 ALDOB FBP1 FBP2
6
Show member pathways
11.92 ALDOB BPGM FBP1 FBP2 G6PC G6PC3
7 11.57 FBP1 G6PC G6PC3 GCG
8
Show member pathways
11.31 ALDOB FBP1 FBP2
9 11.14 G6PC G6PC3
10 11.12 ALDOB G6PC
11
Show member pathways
10.93 ALDOB FBP1 FBP2 KHK
12
Show member pathways
10.83 ALDOB KHK

GO Terms for Fructose-1,6-Bisphosphatase Deficiency

Cellular components related to Fructose-1,6-Bisphosphatase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.23 ALDOB BAG6 BPGM CLIC1 FBP1 FBP2

Biological processes related to Fructose-1,6-Bisphosphatase Deficiency according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.71 BPGM FBP1 FBP2 KHK
2 dephosphorylation GO:0016311 9.69 FBP1 FBP2 G6PC3
3 glycolytic process GO:0006096 9.52 ALDOB BPGM
4 canonical glycolysis GO:0061621 9.49 ALDOB BPGM
5 phosphate-containing compound metabolic process GO:0006796 9.48 G6PC G6PC3
6 glucose 6-phosphate metabolic process GO:0051156 9.46 G6PC G6PC3
7 fructose 6-phosphate metabolic process GO:0006002 9.43 FBP1 FBP2
8 glucose-6-phosphate transport GO:0015760 9.37 G6PC G6PC3
9 gluconeogenesis GO:0006094 9.35 ALDOB FBP1 FBP2 G6PC G6PC3
10 fructose 1,6-bisphosphate metabolic process GO:0030388 9.33 ALDOB FBP1 FBP2
11 fructose catabolic process to hydroxyacetone phosphate and glyceraldehyde-3-phosphate GO:0061624 9.32 ALDOB KHK
12 sucrose biosynthetic process GO:0005986 9.26 FBP1 FBP2
13 fructose metabolic process GO:0006000 8.92 ALDOB FBP1 FBP2 KHK

Molecular functions related to Fructose-1,6-Bisphosphatase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.56 BPGM C9orf3 F7 FBP1 FBP2 G6PC
2 phosphoric ester hydrolase activity GO:0042578 9.26 FBP1 FBP2
3 glucose-6-phosphatase activity GO:0004346 9.16 G6PC G6PC3
4 fructose 1,6-bisphosphate 1-phosphatase activity GO:0042132 8.62 FBP1 FBP2

Sources for Fructose-1,6-Bisphosphatase Deficiency

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
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62 PubMed
64 QIAGEN
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