MCID: FRC001
MIFTS: 44

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 53 12 72 49 55 71 36 14
Fructose-1,6-Diphosphatase Deficiency 12 41 69
Baker-Winegrad Disease 49 69
Fbp1d 53 71
Fructose 1 Phosphate Aldolase Deficiency 12
Hereditary Fructose Intolerance Syndrome 69
Fructose 1,6 Diphosphatase Deficiency 49

Characteristics:

Orphanet epidemiological data:

55
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:

53
Inheritance:
autosomal recessive

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


HPO:

31
fructose-1,6-bisphosphatase deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 55  
Inborn errors of metabolism


Summaries for Fructose-1,6-Bisphosphatase Deficiency

NIH Rare Diseases : 49 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. Last updated: 9/19/2014

MalaCards based summary : Fructose-1,6-Bisphosphatase Deficiency, also known as fructose-1,6-diphosphatase deficiency, is related to hypoglycemia and hypertriglyceridemia, familial, and has symptoms including dyspnea, fever and seizures. 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 Decreased shRNA abundance and Decreased shRNA abundance

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 : 53 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 : 71 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 : 72 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 29.4 AGL FBP1 G6PC GCG
2 hypertriglyceridemia, familial 10.1
3 hypertriglyceridemia, transient infantile 10.1
4 glycogen storage disease 10.1
5 metabolic acidosis 10.1
6 glycogen storage disease iv 10.1 AGL G6PC
7 glycogen storage disease ia 10.0 AGL ALDOB G6PC
8 carbohydrate metabolic disorder 10.0 AGL ALDOB G6PC
9 glycogen storage disease vi 9.7 G6PC GCG
10 glycogen storage disease iii 9.7 AGL G6PC GCG
11 endocrine pancreas disease 9.5 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:

53
Respiratory:
dyspnea
apnea
hyperventilation

Abdomen Liver:
hepatomegaly

Neurologic Behavioral Psychiatric Manifestations:
irritability

Laboratory Abnormalities:
increased urinary glycerol
decreased fbp1 enzyme activity

Neurologic Central Nervous System:
seizures
lethargy
coma
hypotonia

Metabolic Features:
hypoglycemia
metabolic acidosis
ketosis

Cardiovascular Heart:
tachycardia


Clinical features from OMIM:

229700

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

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 dyspnea 31 HP:0002094
2 fever 31 HP:0001945
3 seizures 31 HP:0001250
4 lethargy 31 HP:0001254
5 hepatomegaly 31 HP:0002240
6 hypoglycemia 31 HP:0001943
7 irritability 31 HP:0000737
8 apnea 31 HP:0002104
9 coma 31 HP:0001259
10 metabolic acidosis 31 HP:0001942
11 tachycardia 31 HP:0001649
12 generalized hypotonia 31 HP:0001290
13 hyperventilation 31 HP:0002883
14 ketosis 31 HP:0001946
15 increased urinary glycerol 31 HP:0040301

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


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

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance GR00251-A-1 9.7 G6PC3 GNGT1 ALDOB CLIC1 F7 FBP2
2 Decreased shRNA abundance GR00251-A-2 9.7 G6PC3 GNGT1 ALDOB CLIC1 F7 FBP2

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:

38
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
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
18
Impaired ketogenesis in fructose-1,6-bisphosphatase deficiency: a pitfall in the investigation of hypoglycaemia. ( 7623439 )
1995
19
Identification of a genetic mutation in a family with fructose-1,6- bisphosphatase deficiency. ( 7763253 )
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:

71
# 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
# 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.490G> A (p.Gly164Ser) single nucleotide variant Pathogenic rs121918188 GRCh37 Chromosome 9, 97372280: 97372280
3 FBP1 NM_001127628.1(FBP1): c.530C> A (p.Ala177Asp) single nucleotide variant Pathogenic rs121918189 GRCh37 Chromosome 9, 97372240: 97372240
4 FBP1 NM_001127628.1(FBP1): c.88G> T (p.Glu30Ter) single nucleotide variant Pathogenic rs121918190 GRCh37 Chromosome 9, 97401505: 97401505
5 FBP1 NM_001127628.1(FBP1): c.581T> C (p.Phe194Ser) single nucleotide variant Pathogenic rs121918191 GRCh37 Chromosome 9, 97369221: 97369221
6 FBP1 NM_001127628.1(FBP1): c.851C> G (p.Pro284Arg) single nucleotide variant Pathogenic rs121918192 GRCh37 Chromosome 9, 97365829: 97365829
7 FBP1 NM_000507.3(FBP1): c.355G> A (p.Asp119Asn) single nucleotide variant Pathogenic/Likely pathogenic rs758609113 GRCh37 Chromosome 9, 97380121: 97380121
8 FBP1 NM_001127628.1(FBP1): c.720_729delTTATGGGGCC (p.Tyr241Glyfs) deletion Pathogenic rs1060499726 GRCh37 Chromosome 9, 97367835: 97367844
9 FBP1 NM_000507.3(FBP1): c.704delC (p.Pro235Glnfs) deletion Pathogenic rs1060499725 GRCh38 Chromosome 9, 94606816: 94606816
10 FBP1 NM_000507.3(FBP1): c.825+1G> A single nucleotide variant Pathogenic rs111437558 GRCh37 Chromosome 9, 97367738: 97367738

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:

36
# 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
13.74 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
11.31 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 9.86 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 glycogen metabolic process GO:0005977 9.55 AGL G6PC
5 glycolytic process GO:0006096 9.54 ALDOB BPGM
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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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