MCID: FRC001
MIFTS: 43

Fructose-1,6-Bisphosphatase Deficiency

Categories: Genetic diseases, Rare diseases, Metabolic 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 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

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 hepatitis, and has symptoms including abdominal pain, icterus and lethargy. 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 liver, and related phenotypes are irritability and seizures

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 11)
# Related Disease Score Top Affiliating Genes
1 hypoglycemia 28.9 AGL FBP1 G6PC GCG
2 hepatitis 10.2
3 reye syndrome 10.2
4 glycogen storage disease 10.2
5 metabolic acidosis 10.2
6 glycogen storage disease ia 10.1 AGL ALDOB G6PC
7 glycogen storage disease iv 10.1 AGL G6PC
8 carbohydrate metabolic disorder 10.0 AGL ALDOB G6PC
9 glycogen storage disease vi 9.6 G6PC GCG
10 glycogen storage disease iii 9.5 AGL G6PC GCG
11 endocrine pancreas disease 9.2 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 irritability 32 HP:0000737
2 seizures 32 HP:0001250
3 muscular hypotonia 32 HP:0001252
4 lethargy 32 HP:0001254
5 coma 32 HP:0001259
6 generalized hypotonia 32 HP:0001290
7 tachycardia 32 HP:0001649
8 metabolic acidosis 32 HP:0001942
9 hypoglycemia 32 HP:0001943
10 fever 32 HP:0001945
11 ketosis 32 HP:0001946
12 dyspnea 32 HP:0002094
13 apnea 32 HP:0002104
14 hepatomegaly 32 HP:0002240
15 hyperventilation 32 HP:0002883
16 increased urinary glycerol 32 HP:0040301

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


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

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 CLIC1 F7 FBP2 G6PC3 GNGT1 ALDOB
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
Liver

Publications for Fructose-1,6-Bisphosphatase Deficiency

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

(show all 21)
# 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
A Japanese boy with fructose-1,6-bisphosphatase deficiency who had a novel<i>FBP1</i>mutation (p.Phe90Val). ( 29026278 )
2017
3
Fructose-1,6-bisphosphatase deficiency as aA cause of recurrent hypoglycemia and metabolic acidosis: Clinical and molecular findings in Malaysian patients. ( 29203193 )
2017
4
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
5
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
6
Fructose-1,6-bisphosphatase deficiency: a case of a successful pregnancy by closely monitoring metabolic control. ( 24470127 )
2014
7
Transient pseudo-hypertriglyceridemia: a useful biochemical marker of fructose-1,6-bisphosphatase deficiency. ( 23881342 )
2013
8
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
9
Novel FBP1 gene mutations in Arab patients with fructose-1,6-bisphosphatase deficiency. ( 19259699 )
2009
10
Three successful pregnancies through dietary management of fructose-1,6-bisphosphatase deficiency. ( 17705024 )
2007
11
Intravenous glycerol therapy should not be used in patients with unrecognized fructose-1,6-bisphosphatase deficiency. ( 12654061 )
2003
12
Diagnosis of fructose-1,6-bisphosphatase deficiency using cultured lymphocyte fraction: a secure and noninvasive alternative to liver biopsy. ( 11999979 )
2002
13
Mutation spectrum in patients with fructose-1,6-bisphosphatase deficiency. ( 11286391 )
2001
14
False positive fructose loading: a pitfall in the diagnosis of fructose-1,6-bisphosphatase deficiency. ( 11032338 )
2000
15
Novel mutations in patients with fructose-1,6-bisphosphatase deficiency. ( 10234608 )
1999
16
Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency. ( 9382095 )
1997
17
Identification of a genetic mutation in a family with fructose-1,6- bisphosphatase deficiency. ( 7763253 )
1995
18
Impaired ketogenesis in fructose-1,6-bisphosphatase deficiency: a pitfall in the investigation of hypoglycaemia. ( 7623439 )
1995
19
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
20
Fructose-1,6-bisphosphatase deficiency: severe phenotype with normal leukocyte enzyme activity. ( 7807945 )
1994
21
Diagnosis of fructose-1,6-bisphosphatase deficiency using leukocytes: normal leukocyte enzyme activity in three female patients. ( 8384909 )
1993

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 74)
# 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.670G> A (p.Val224Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs140222720 GRCh37 Chromosome 9, 97369132: 97369132
14 FBP1 NM_000507.3(FBP1): c.670G> A (p.Val224Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs140222720 GRCh38 Chromosome 9, 94606850: 94606850
15 FBP1 NM_000507.3(FBP1): c.355G> A (p.Asp119Asn) single nucleotide variant Pathogenic/Likely pathogenic rs758609113 GRCh37 Chromosome 9, 97380121: 97380121
16 FBP1 NM_000507.3(FBP1): c.355G> A (p.Asp119Asn) single nucleotide variant Pathogenic/Likely pathogenic rs758609113 GRCh38 Chromosome 9, 94617839: 94617839
17 FBP1 NM_000507.3(FBP1): c.334-15T> C single nucleotide variant Conflicting interpretations of pathogenicity rs370920869 GRCh38 Chromosome 9, 94617875: 94617875
18 FBP1 NM_000507.3(FBP1): c.334-15T> C single nucleotide variant Conflicting interpretations of pathogenicity rs370920869 GRCh37 Chromosome 9, 97380157: 97380157
19 FBP1 NM_000507.3(FBP1): c.*21C> T single nucleotide variant Likely benign rs9695 GRCh37 Chromosome 9, 97365642: 97365642
20 FBP1 NM_000507.3(FBP1): c.*21C> T single nucleotide variant Likely benign rs9695 GRCh38 Chromosome 9, 94603360: 94603360
21 FBP1 NM_000507.3(FBP1): c.960A> G (p.Gly320=) single nucleotide variant Benign rs1769257 GRCh38 Chromosome 9, 94603438: 94603438
22 FBP1 NM_000507.3(FBP1): c.960A> G (p.Gly320=) single nucleotide variant Benign rs1769257 GRCh37 Chromosome 9, 97365720: 97365720
23 FBP1 NM_000507.3(FBP1): c.705+14C> T single nucleotide variant Likely benign rs2297084 GRCh37 Chromosome 9, 97369083: 97369083
24 FBP1 NM_000507.3(FBP1): c.705+14C> T single nucleotide variant Likely benign rs2297084 GRCh38 Chromosome 9, 94606801: 94606801
25 FBP1 NM_000507.3(FBP1): c.653G> A (p.Arg218Lys) single nucleotide variant Benign rs1769259 GRCh37 Chromosome 9, 97369149: 97369149
26 FBP1 NM_000507.3(FBP1): c.653G> A (p.Arg218Lys) single nucleotide variant Benign rs1769259 GRCh38 Chromosome 9, 94606867: 94606867
27 FBP1 NM_000507.3(FBP1): c.651C> T (p.Ala217=) single nucleotide variant Likely benign rs1042144 GRCh37 Chromosome 9, 97369151: 97369151
28 FBP1 NM_000507.3(FBP1): c.651C> T (p.Ala217=) single nucleotide variant Likely benign rs1042144 GRCh38 Chromosome 9, 94606869: 94606869
29 FBP1 NM_000507.3(FBP1): c.426+7C> T single nucleotide variant Likely benign rs8192689 GRCh37 Chromosome 9, 97380043: 97380043
30 FBP1 NM_000507.3(FBP1): c.426+7C> T single nucleotide variant Likely benign rs8192689 GRCh38 Chromosome 9, 94617761: 94617761
31 FBP1 NM_000507.3(FBP1): c.697T> C (p.Phe233Leu) single nucleotide variant Uncertain significance rs2297085 GRCh38 Chromosome 9, 94606823: 94606823
32 FBP1 NM_000507.3(FBP1): c.697T> C (p.Phe233Leu) single nucleotide variant Uncertain significance rs2297085 GRCh37 Chromosome 9, 97369105: 97369105
33 FBP1 NM_000507.3(FBP1): c.14C> A (p.Ala5Glu) single nucleotide variant Uncertain significance rs759615686 GRCh38 Chromosome 9, 94639297: 94639297
34 FBP1 NM_000507.3(FBP1): c.14C> A (p.Ala5Glu) single nucleotide variant Uncertain significance rs759615686 GRCh37 Chromosome 9, 97401579: 97401579
35 FBP1 NM_000507.3(FBP1): c.-194C> T single nucleotide variant Likely benign rs2296707 GRCh37 Chromosome 9, 97401786: 97401786
36 FBP1 NM_000507.3(FBP1): c.-194C> T single nucleotide variant Likely benign rs2296707 GRCh38 Chromosome 9, 94639504: 94639504
37 FBP1 NM_000507.3(FBP1): c.*248delA deletion Likely benign rs11351544 GRCh37 Chromosome 9, 97365415: 97365415
38 FBP1 NM_000507.3(FBP1): c.*248delA deletion Likely benign rs11351544 GRCh38 Chromosome 9, 94603133: 94603133
39 FBP1 NM_000507.3(FBP1): c.731G> A (p.Arg244Gln) single nucleotide variant Uncertain significance rs775808681 GRCh38 Chromosome 9, 94605551: 94605551
40 FBP1 NM_000507.3(FBP1): c.731G> A (p.Arg244Gln) single nucleotide variant Uncertain significance rs775808681 GRCh37 Chromosome 9, 97367833: 97367833
41 FBP1 NM_000507.3(FBP1): c.-54C> A single nucleotide variant Uncertain significance rs1057515690 GRCh38 Chromosome 9, 94639364: 94639364
42 FBP1 NM_000507.3(FBP1): c.-54C> A single nucleotide variant Uncertain significance rs1057515690 GRCh37 Chromosome 9, 97401646: 97401646
43 FBP1 NM_000507.3(FBP1): c.-238G> A single nucleotide variant Uncertain significance rs974736435 GRCh37 Chromosome 9, 97401830: 97401830
44 FBP1 NM_000507.3(FBP1): c.-238G> A single nucleotide variant Uncertain significance rs974736435 GRCh38 Chromosome 9, 94639548: 94639548
45 FBP1 NM_000507.3(FBP1): c.-246G> T single nucleotide variant Uncertain significance rs921192380 GRCh37 Chromosome 9, 97401838: 97401838
46 FBP1 NM_000507.3(FBP1): c.-246G> T single nucleotide variant Uncertain significance rs921192380 GRCh38 Chromosome 9, 94639556: 94639556
47 FBP1 NM_000507.3(FBP1): c.889A> G (p.Thr297Ala) single nucleotide variant Uncertain significance rs758841300 GRCh37 Chromosome 9, 97365791: 97365791
48 FBP1 NM_000507.3(FBP1): c.889A> G (p.Thr297Ala) single nucleotide variant Uncertain significance rs758841300 GRCh38 Chromosome 9, 94603509: 94603509
49 FBP1 NM_000507.3(FBP1): c.102G> C (p.Leu34=) single nucleotide variant Uncertain significance rs143832764 GRCh38 Chromosome 9, 94639209: 94639209
50 FBP1 NM_000507.3(FBP1): c.102G> C (p.Leu34=) single nucleotide variant Uncertain significance rs143832764 GRCh37 Chromosome 9, 97401491: 97401491

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.69 AGL ALDOB BPGM FBP1 FBP2 G6PC
2
Show member pathways
12.12 FBP1 FBP2 G6PC G6PC3
3
Show member pathways
12.08 AGL ALDOB BPGM FBP1 FBP2 G6PC
4
Show member pathways
11.98 ALDOB FBP1 FBP2
5
Show member pathways
11.98 AGL ALDOB BPGM FBP1 FBP2 G6PC
6
Show member pathways
11.69 AGL G6PC G6PC3
7 11.57 FBP1 G6PC G6PC3 GCG
8
Show member pathways
11.34 ALDOB FBP1 FBP2
9
Show member pathways
11.13 ALDOB FBP1 FBP2 KHK
10
Show member pathways
10.85 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 16)
# Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.84 AGL BPGM FBP1 FBP2
2 carbohydrate metabolic process GO:0005975 9.73 BPGM FBP1 FBP2 KHK
3 dephosphorylation GO:0016311 9.7 FBP1 FBP2 G6PC3
4 glycolytic process GO:0006096 9.56 ALDOB BPGM
5 glycogen metabolic process GO:0005977 9.55 AGL G6PC
6 canonical glycolysis GO:0061621 9.51 ALDOB BPGM
7 phosphate-containing compound metabolic process GO:0006796 9.49 G6PC G6PC3
8 glycogen catabolic process GO:0005980 9.48 AGL G6PC
9 glucose 6-phosphate metabolic process GO:0051156 9.46 G6PC G6PC3
10 fructose 6-phosphate metabolic process GO:0006002 9.4 FBP1 FBP2
11 glucose-6-phosphate transport GO:0015760 9.37 G6PC G6PC3
12 fructose 1,6-bisphosphate metabolic process GO:0030388 9.33 ALDOB FBP1 FBP2
13 fructose catabolic process to hydroxyacetone phosphate and glyceraldehyde-3-phosphate GO:0061624 9.32 ALDOB KHK
14 sucrose biosynthetic process GO:0005986 9.26 FBP1 FBP2
15 fructose metabolic process GO:0006000 9.26 ALDOB FBP1 FBP2 KHK
16 gluconeogenesis GO:0006094 9.1 ALDOB BPGM FBP1 FBP2 G6PC G6PC3

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

# Name GO ID Score Top Affiliating Genes
1 polyubiquitin modification-dependent protein binding GO:0031593 9.32 AGL BAG6
2 hydrolase activity GO:0016787 9.28 AGL BPGM C9orf3 F7 FBP1 FBP2
3 phosphoric ester hydrolase activity GO:0042578 9.26 FBP1 FBP2
4 glucose-6-phosphatase activity GO:0004346 9.16 G6PC G6PC3
5 fructose 1,6-bisphosphate 1-phosphatase activity GO:0042132 8.96 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
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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