FBP1D
MCID: FRC001
MIFTS: 50

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 74 25 20 58 73 36 15
Fructose-1,6-Diphosphatase Deficiency 12 58 44 71
Baker-Winegrad Disease 20 6 71
Fructose 1,6 Diphosphatase Deficiency 25 20
Fbpase Deficiency 25 58
Fbp1d 57 73
Fructose 1 Phosphate Aldolase Deficiency 12
Hereditary Fructose Intolerance Syndrome 71
Fbp1 Deficiency 25

Characteristics:

Orphanet epidemiological data:

58
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 (Updated 05-Mar-2021)
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: 58  
Inborn errors of metabolism


Summaries for Fructose-1,6-Bisphosphatase Deficiency

GARD : 20 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 gestational diabetes, and has symptoms including seizures, vomiting and abdominal pain. 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 metabolic acidosis and vomiting

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) (Updated 05-Mar-2021)

KEGG : 36 Fructose-1,6-bisphosphatase deficiency is an autosomal recessive disorder caused by a defect in FBP1 gene and characterized by impaired gluconeogenesis.

UniProtKB/Swiss-Prot : 73 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 : 74 Fructose bisphosphatase (EC 3.1.3.11) is an enzyme that converts fructose-1,6-bisphosphate to fructose... more...

GeneReviews: NBK550349

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 top 50) (show all 63)
# Related Disease Score Top Affiliating Genes
1 hypoglycemia 30.5 GCK GCG G6PC1 FBP1 ABCC8
2 gestational diabetes 29.9 GCK GCG ABCC8
3 fructose intolerance, hereditary 11.8
4 metabolic acidosis 10.7
5 lactic acidosis 10.7
6 autosomal recessive disease 10.6
7 hypertriglyceridemia, familial 10.4
8 status epilepticus 10.4
9 glycogen storage disease 10.4
10 central core disease of muscle 10.2
11 tyrosinosis 10.2
12 glycerol kinase deficiency 10.2
13 gastroenteritis 10.2
14 glucosephosphate dehydrogenase deficiency 10.2
15 myopathy 10.2
16 cataract 10.2
17 growth hormone deficiency 10.2
18 yemenite deaf-blind hypopigmentation syndrome 10.2
19 alacrima, achalasia, and mental retardation syndrome 10.2
20 sensorineural hearing loss 10.2
21 reye syndrome 10.2
22 hyperuricemia 10.2
23 brain edema 10.2
24 mitochondrial metabolism disease 10.2
25 fasting hypoglycemia 10.2
26 tay-sachs disease 10.2
27 biotin deficiency 10.1 PCCA PC
28 munchausen by proxy 10.0 GCK ABCC8
29 factitious disorder 10.0 GCK ABCC8
30 maturity-onset diabetes of the young, type 8, with exocrine dysfunction 10.0 GCK ABCC8
31 inherited metabolic disorder 10.0
32 maturity-onset diabetes of the young, type 13 10.0 GCK ABCC8
33 maturity-onset diabetes of the young, type 7 10.0 GCK ABCC8
34 hyperinsulinemic hypoglycemia, familial, 7 10.0 GCK ABCC8
35 maturity-onset diabetes of the young, type 9 10.0 GCK ABCC8
36 fanconi-bickel syndrome 10.0 G6PC1 ABCC8
37 maturity-onset diabetes of the young, type 6 10.0 GCK ABCC8
38 maturity-onset diabetes of the young, type 10 10.0 GCK ABCC8
39 maturity-onset diabetes of the young, type 4 9.9 GCK ABCC8
40 maturity-onset diabetes of the young, type 2 9.9 GCK ABCC8
41 acute insulin response 9.9 GCG ABCC8
42 multiple carboxylase deficiency 9.9 PCCA PC
43 maturity-onset diabetes of the young, type 3 9.9 GCK ABCC8
44 hyperinsulinemic hypoglycemia, familial, 6 9.9 PC GCK ABCC8
45 renal cysts and diabetes syndrome 9.9 GCK ABCC8
46 diabetes mellitus, ketosis-prone 9.8 GCG ABCC8
47 glycogen storage disease ia 9.8 PC GCG G6PC1 FBP1
48 hyperinsulinemic hypoglycemia 9.8 GCK GCG ABCC8
49 maturity-onset diabetes of the young, type 1 9.8 GCK GCG ABCC8
50 carbohydrate metabolic disorder 9.8 GCG G6PC1 ABCC8

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

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

58 31 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 metabolic acidosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001942
2 vomiting 58 31 frequent (33%) Frequent (79-30%) HP:0002013
3 hyperuricemia 58 31 frequent (33%) Frequent (79-30%) HP:0002149
4 diarrhea 58 31 frequent (33%) Frequent (79-30%) HP:0002014
5 fasting hypoglycemia 58 31 frequent (33%) Frequent (79-30%) HP:0003162
6 intermittent lactic acidemia 58 31 frequent (33%) Frequent (79-30%) HP:0004913
7 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
8 hepatomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002240
9 hepatic steatosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001397
10 elevated hepatic transaminase 58 31 occasional (7.5%) Occasional (29-5%) HP:0002910
11 pallor 58 31 occasional (7.5%) Occasional (29-5%) HP:0000980
12 irritability 58 31 occasional (7.5%) Occasional (29-5%) HP:0000737
13 ventriculomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002119
14 neonatal hypoglycemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001998
15 tachycardia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001649
16 coma 58 31 occasional (7.5%) Occasional (29-5%) HP:0001259
17 respiratory distress 58 31 occasional (7.5%) Occasional (29-5%) HP:0002098
18 episodic tachypnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002876
19 excessive daytime somnolence 58 31 occasional (7.5%) Occasional (29-5%) HP:0001262
20 drowsiness 58 31 occasional (7.5%) Occasional (29-5%) HP:0002329
21 neonatal hyperbilirubinemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003265
22 apneic episodes in infancy 58 31 occasional (7.5%) Occasional (29-5%) HP:0005949
23 ketosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001946
24 reye syndrome-like episodes 58 31 occasional (7.5%) Occasional (29-5%) HP:0006582
25 intermittent hyperventilation 58 31 occasional (7.5%) Occasional (29-5%) HP:0004879
26 increased urinary glycerol 58 31 occasional (7.5%) Occasional (29-5%) HP:0040301
27 seizure 31 occasional (7.5%) HP:0001250
28 hypotonia 31 occasional (7.5%) HP:0001252
29 hyperalaninemia 58 31 very rare (1%) Very rare (<4-1%) HP:0003348
30 hypoglycemia 58 31 Very frequent (99-80%) HP:0001943
31 dyspnea 58 31 Occasional (29-5%) HP:0002094
32 seizures 58 Occasional (29-5%)
33 muscular hypotonia 58 Occasional (29-5%)
34 reduced consciousness/confusion 58 Occasional (29-5%)
35 fever 31 HP:0001945
36 apnea 31 HP:0002104
37 lethargy 31 HP:0001254
38 lactic acidosis 58 Very frequent (99-80%)
39 abnormal enzyme/coenzyme activity 58 Very frequent (99-80%)
40 generalized hypotonia 31 HP:0001290
41 hyperventilation 31 HP:0002883

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
seizures
lethargy
coma
hypotonia

Metabolic Features:
hypoglycemia
metabolic acidosis
ketosis

Respiratory:
dyspnea
apnea
hyperventilation

Laboratory Abnormalities:
increased urinary glycerol
decreased fbp1 enzyme activity

Abdomen Liver:
hepatomegaly

Neurologic Behavioral Psychiatric Manifestations:
irritability

Cardiovascular Heart:
tachycardia

Clinical features from OMIM®:

229700 (Updated 05-Mar-2021)

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


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

MGI Mouse Phenotypes related to Fructose-1,6-Bisphosphatase Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 9.1 AOPEP FAH G6PC1 GCK KCNT1 PCCA

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:

40
Monocytes, Liver, Kidney, Placenta, Neutrophil

Publications for Fructose-1,6-Bisphosphatase Deficiency

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

(show top 50) (show all 104)
# Title Authors PMID Year
1
Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency. 61 6 57 25
9382095 1997
2
Identification of a genetic mutation in a family with fructose-1,6- bisphosphatase deficiency. 61 6 57
7763253 1995
3
Two newly identified genomic mutations in a Japanese female patient with fructose-1,6-bisphosphatase (FBPase) deficiency. 6 57
12126934 2002
4
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. 57 61 25
7558035 1995
5
Fructose-1,6-bisphosphatase deficiency: severe phenotype with normal leukocyte enzyme activity. 57 25 61
7807945 1994
6
Fasting hypoglycaemia and metabolic acidosis associated with deficiency of hepatic fructose-1,6-diphosphatase activity. 57 25
4193749 1970
7
Fructose-1,6-diphosphatase deficiency in Israel. 61 57
1995492 1991
8
Biochemical and clinical observations in four patients with fructose-1,6-diphosphatase deficiency. 57 61
2347355 1990
9
[Fructose 1,6-diphosphatase deficiency in 2 sisters]. 61 57
175754 1975
10
"Ketotic hypoglycemia" due to hepatic fructose-1,6-diphosphatase deficiency: treatment with folic acid. 57 61
4341454 1972
11
Hepatic fructose-1,6-diphosphatase deficiency. A cause of lactic acidosis and hypoglycemia in infancy. 57 61
4341015 1972
12
Detection of fructose-1,6-diphosphatase deficiency with use of white blood cells. 61 57
4334313 1972
13
Infantile lactic acidosis due to hereditary fructose 1,6-diphosphatase deficiency. 57 61
4335192 1971
14
Genetic analysis of patients with fructose-1,6-bisphosphatase deficiency. 61 25
30858132 2019
15
Fructose-1,6-bisphosphatase deficiency presented with complex febrile convulsion. 25 61
30927757 2019
16
Fructose-1,6-bisphosphatase deficiency as a cause of recurrent hypoglycemia and metabolic acidosis: Clinical and molecular findings in Malaysian patients. 25 61
29203193 2018
17
Clinical and Molecular Characterization of Patients with Fructose 1,6-Bisphosphatase Deficiency. 61 25
28420223 2017
18
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. 25 61
27101822 2016
19
Fructose 1,6-bisphosphatase deficiency: clinical, biochemical and genetic features in French patients. 25 61
25601412 2015
20
Fructose-1,6-bisphosphatase deficiency: a case of a successful pregnancy by closely monitoring metabolic control. 25 61
24470127 2014
21
Transient pseudo-hypertriglyceridemia: a useful biochemical marker of fructose-1,6-bisphosphatase deficiency. 25 61
23881342 2013
22
Recurrent infantile hypoglycemia due to combined fructose-1,6-diphosphatase deficiency and growth hormone deficiency. 61 25
23585210 2013
23
Fructose 1,6-bisphosphatase deficiency: enzyme and mutation analysis performed on calcitriol-stimulated monocytes with a note on long-term prognosis. 61 25
20151204 2010
24
Three successful pregnancies through dietary management of fructose-1,6-bisphosphatase deficiency. 25 61
17705024 2007
25
[Fructose 1,6-bisphosphatase deficiency as a cause of recessive serious hypoglycaemia]. 25 61
17125659 2006
26
Mutation spectrum in patients with fructose-1,6-bisphosphatase deficiency. 25 61
11286391 2001
27
Urinary sugar phosphates and related organic acids in fructose-1,6-diphosphatase deficiency. 61 25
8412001 1993
28
Clinical and molecular characterization of Indian patients with fructose-1, 6-bisphosphatase deficiency: Identification of a frequent variant (E281K). 25
29774539 2018
29
International practices in the dietary management of fructose 1-6 biphosphatase deficiency. 25
29370874 2018
30
Genetic analysis of fructose-1,6-bisphosphatase (FBPase) deficiency in nine consanguineous Pakistani families. 25
29016355 2017
31
Parental influence on human germline de novo mutations in 1,548 trios from Iceland. 25
28959963 2017
32
Demonstration of fructose 1,6-bisphosphatase in human term placenta. 25
1847882 1991
33
Glycerol blanking in triglyceride assays: is it necessary? 25
2136327 1990
34
Novel Mutation with Fructose-1,6-Bisphosphatase Deficiency. 61
33576950 2021
35
Genetic Analysis of Tyrosinemia Type 1 and Fructose-1, 6 Bisphosphatase Deficiency Affected in Pakistani Cohorts. 61
31584309 2020
36
Fructose-1,6-bisphosphatase deficiency with confirmed molecular diagnosis. An important cause of hypoglycemia in children. 61
32020156 2020
37
Fructose-1,6-Bisphosphatase Deficiency 61
31804789 2019
38
Exon 2 deletion represents a common mutation in Turkish patients with fructose-1,6-bisphosphatase deficiency. 61
31278438 2019
39
Status epilepticus due to fructose-1,6-bisphosphatase deficiency caused by FBP1 gene mutation. 61
32851303 2019
40
[Severe lactic acidosis requiring continuos haemodiafiltration in a young patient with unrecognized metabolic abnormality. Case report]. 61
29390242 2018
41
A Chinese Adult Patient with Fructose 1,6-bisphosphatase Deficiency. 61
28776561 2017
42
Fructose-1,6-bisphosphatase deficiency caused by a novel homozygous Alu element insertion in the FBP1 gene and delayed diagnosis. 61
28599390 2017
43
Inborn Errors of Fructose Metabolism. What Can We Learn from Them? 61
28368361 2017
44
A Japanese boy with fructose-1,6-bisphosphatase deficiency who had a novel FBP1 mutation (p.Phe90Val). 61
29026278 2017
45
Pitfall in the Diagnosis of Fructose-1,6-Bisphosphatase Deficiency: Difficulty in Detecting Glycerol-3-Phosphate with Solvent Extraction in Urinary GC/MS Analysis. 61
26549536 2015
46
Fructose-1,6-diphosphatase deficiency: a treatable neurometabolic disorder. 61
25246452 2014
47
Etiology and outcome of inborn errors of metabolism. 61
24601187 2013
48
Effect of phosphoglycerate mutase and fructose 1,6-bisphosphatase deficiency on symbiotic Burkholderia phymatum. 61
22282515 2012
49
A potential role for muscle in glucose homeostasis: in vivo kinetic studies in glycogen storage disease type 1a and fructose-1,6-bisphosphatase deficiency. 61
20127282 2010
50
Novel FBP1 gene mutations in Arab patients with fructose-1,6-bisphosphatase deficiency. 61
19259699 2009

Variations for Fructose-1,6-Bisphosphatase Deficiency

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

6 (show top 50) (show all 86)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FBP1 NM_000507.4(FBP1):c.530C>A (p.Ala177Asp) SNV Pathogenic 869 rs121918189 9:97372240-97372240 9:94609958-94609958
2 FBP1 NM_000507.4(FBP1):c.88G>T (p.Glu30Ter) SNV Pathogenic 870 rs121918190 9:97401505-97401505 9:94639223-94639223
3 FBP1 NM_000507.4(FBP1):c.581T>C (p.Phe194Ser) SNV Pathogenic 871 rs121918191 9:97369221-97369221 9:94606939-94606939
4 FBP1 NM_000507.4(FBP1):c.851C>G (p.Pro284Arg) SNV Pathogenic 872 rs121918192 9:97365829-97365829 9:94603547-94603547
5 FBP1 NM_000507.4(FBP1):c.841G>T (p.Glu281Ter) SNV Pathogenic 548480 rs566453434 9:97365839-97365839 9:94603557-94603557
6 FBP1 NC_000009.12:g.(?_94639121)_(94639330_?)del Deletion Pathogenic 831512 9:97401403-97401612
7 FBP1 NM_000507.4(FBP1):c.544del (p.Val182fs) Deletion Pathogenic 835572 9:97372226-97372226 9:94609944-94609944
8 FBP1 NM_000507.4(FBP1):c.577G>T (p.Glu193Ter) SNV Pathogenic 853649 9:97369225-97369225 9:94606943-94606943
9 FBP1 NM_000507.4(FBP1):c.490G>A (p.Gly164Ser) SNV Pathogenic 868 rs121918188 9:97372280-97372280 9:94609998-94609998
10 FBP1 NM_000507.4(FBP1):c.720_729del (p.Tyr241fs) Deletion Pathogenic 403701 rs1060499726 9:97367835-97367844 9:94605553-94605562
11 FBP1 NM_000507.4(FBP1):c.825+1G>A SNV Pathogenic 403706 rs111437558 9:97367738-97367738 9:94605456-94605456
12 FBP1 NM_000507.4(FBP1):c.355G>A (p.Asp119Asn) SNV Pathogenic 214364 rs758609113 9:97380121-97380121 9:94617839-94617839
13 FBP1 NM_000507.4(FBP1):c.704del (p.Pro235fs) Deletion Pathogenic 403705 rs774362519 9:97369098-97369098 9:94606816-94606816
14 FBP1 NM_000507.4(FBP1):c.960_961insG (p.Ser321fs) Insertion Pathogenic 867 rs757653154 9:97365719-97365720 9:94603437-94603438
15 FBP1 NM_000507.4(FBP1):c.472C>T (p.Arg158Trp) SNV Pathogenic 561988 rs766005419 9:97372298-97372298 9:94610016-94610016
16 FBP1 NM_000507.4(FBP1):c.778G>A (p.Gly260Arg) SNV Pathogenic 561989 rs780803192 9:97367786-97367786 9:94605504-94605504
17 FBP1 NM_000507.4(FBP1):c.1_170del (p.Met1fs) Deletion Pathogenic 619962 rs1563991556 9:97401423-97401592 9:94639141-94639310
18 FBP1 NM_000507.4(FBP1):c.114_119dup (p.Cys39_Thr40dup) Duplication Pathogenic 419848 rs1554682769 9:97401473-97401474 9:94639191-94639192
19 FBP1 GRCh37/hg19 9q22.32(chr9:97401423-97401593) copy number loss Pathogenic 915990 9:97401423-97401593
20 FBP1 NM_000507.4(FBP1):c.841G>A (p.Glu281Lys) SNV Pathogenic 381580 rs566453434 9:97365839-97365839 9:94603557-94603557
21 FBP1 NM_000507.4(FBP1):c.611_614del (p.Lys204fs) Deletion Pathogenic/Likely pathogenic 561985 rs761470205 9:97369188-97369191 9:94606906-94606909
22 FBP1 NM_000507.4(FBP1):c.779del (p.Gly260fs) Deletion Likely pathogenic 526506 rs1554679825 9:97367785-97367785 9:94605503-94605503
23 FBP1 NM_000507.4(FBP1):c.426+1G>T SNV Likely pathogenic 561984 rs1563983184 9:97380049-97380049 9:94617767-94617767
24 FBP1 NM_000507.4(FBP1):c.349T>C (p.Cys117Arg) SNV Likely pathogenic 561986 rs1563983269 9:97380127-97380127 9:94617845-94617845
25 FBP1 NC_000009.12:g.94620329_94620491del163 Deletion Likely pathogenic 561987 rs1563984164 9:97382611-97382773 9:94620329-94620491
26 FBP1 NM_000507.4(FBP1):c.102G>C (p.Leu34=) SNV Conflicting interpretations of pathogenicity 367558 rs143832764 9:97401491-97401491 9:94639209-94639209
27 FBP1 NM_000507.4(FBP1):c.237C>T (p.Asn79=) SNV Conflicting interpretations of pathogenicity 137363 rs201591116 9:97382707-97382707 9:94620425-94620425
28 FBP1 NM_000507.4(FBP1):c.670G>A (p.Val224Ile) SNV Conflicting interpretations of pathogenicity 214359 rs140222720 9:97369132-97369132 9:94606850-94606850
29 FBP1 NM_000507.4(FBP1):c.-208C>G SNV Uncertain significance 367564 rs759920853 9:97401800-97401800 9:94639518-94639518
30 FBP1 NM_000507.4(FBP1):c.-59A>T SNV Uncertain significance 367561 rs913996916 9:97401651-97401651 9:94639369-94639369
31 FBP1 NM_001127628.2(FBP1):c.-24-222G>T SNV Uncertain significance 367568 rs921192380 9:97401838-97401838 9:94639556-94639556
32 FBP1 NM_001127628.2(FBP1):c.-24-191G>C SNV Uncertain significance 367565 rs987543611 9:97401807-97401807 9:94639525-94639525
33 FBP1 NM_001127628.2(FBP1):c.-24-195C>T SNV Uncertain significance 367566 rs1057515693 9:97401811-97401811 9:94639529-94639529
34 FBP1 NM_001127628.2(FBP1):c.-24-214G>A SNV Uncertain significance 367567 rs974736435 9:97401830-97401830 9:94639548-94639548
35 FBP1 NM_000507.4(FBP1):c.889A>G (p.Thr297Ala) SNV Uncertain significance 367555 rs758841300 9:97365791-97365791 9:94603509-94603509
36 FBP1 NM_000507.4(FBP1):c.997G>A (p.Glu333Lys) SNV Uncertain significance 976589 9:97365683-97365683 9:94603401-94603401
37 FBP1 NM_000507.4(FBP1):c.970G>A (p.Asp324Asn) SNV Uncertain significance 214368 rs201508880 9:97365710-97365710 9:94603428-94603428
38 FBP1 NM_000507.4(FBP1):c.334-15T>C SNV Uncertain significance 214357 rs370920869 9:97380157-97380157 9:94617875-94617875
39 FBP1 NM_000507.4(FBP1):c.826-15G>T SNV Uncertain significance 377875 rs148942437 9:97365869-97365869 9:94603587-94603587
40 FBP1 NM_000507.4(FBP1):c.826-15G>A SNV Uncertain significance 137366 rs148942437 9:97365869-97365869 9:94603587-94603587
41 FBP1 NM_000507.4(FBP1):c.705A>G (p.Pro235=) SNV Uncertain significance 511580 rs112446147 9:97369097-97369097 9:94606815-94606815
42 FBP1 NM_000507.4(FBP1):c.906C>T (p.Ala302=) SNV Uncertain significance 377876 rs28369776 9:97365774-97365774 9:94603492-94603492
43 FBP1 NM_000507.4(FBP1):c.697T>C (p.Phe233Leu) SNV Uncertain significance 367557 rs2297085 9:97369105-97369105 9:94606823-94606823
44 FBP1 NM_000507.4(FBP1):c.14C>A (p.Ala5Glu) SNV Uncertain significance 367559 rs759615686 9:97401579-97401579 9:94639297-94639297
45 FBP1 NM_000507.4(FBP1):c.275C>T (p.Thr92Met) SNV Uncertain significance 214363 rs141270413 9:97382669-97382669 9:94620387-94620387
46 FBP1 NM_000507.4(FBP1):c.835C>T (p.Leu279=) SNV Uncertain significance 912389 9:97365845-97365845 9:94603563-94603563
47 FBP1 NM_000507.4(FBP1):c.826-7T>C SNV Uncertain significance 912390 9:97365861-97365861 9:94603579-94603579
48 FBP1 NM_000507.4(FBP1):c.-18G>T SNV Uncertain significance 912442 9:97401610-97401610 9:94639328-94639328
49 FBP1 NM_000507.4(FBP1):c.-130C>A SNV Uncertain significance 912443 9:97401722-97401722 9:94639440-94639440
50 FBP1 NM_000507.4(FBP1):c.721T>C (p.Tyr241His) SNV Uncertain significance 913515 9:97367843-97367843 9:94605561-94605561

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

73
# 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

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
13.67 PCCA PC GCK GCG G6PC1 FBP2
2
Show member pathways
12.51 GCK G6PC1 FBP2 FBP1
3
Show member pathways
12.47 PC GCK G6PC1 FBP2 FBP1
4
Show member pathways
12.13 PC GCK G6PC1 FBP2 FBP1
5
Show member pathways
12.11 G6PC1 FBP2 FBP1
6
Show member pathways
11.68 PCCA PC GCK FBP2 FBP1
7
Show member pathways
11.13 FBP2 FBP1
8 11.08 GCK G6PC1 ABCC8
9 11.05 GCK GCG G6PC1 FBP2 FBP1
10
Show member pathways
10.48 PCCA PC

GO Terms for Fructose-1,6-Bisphosphatase Deficiency

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.69 GCK FBP2 FBP1
2 glucose homeostasis GO:0042593 9.65 GCK GCG G6PC1
3 cellular glucose homeostasis GO:0001678 9.49 GCK ABCC8
4 fructose 6-phosphate metabolic process GO:0006002 9.46 FBP2 FBP1
5 metabolic process GO:0008152 9.46 PC GCK FBP2 FBP1
6 glucose 6-phosphate metabolic process GO:0051156 9.43 GCK G6PC1
7 regulation of insulin secretion GO:0050796 9.43 GCK GCG ABCC8
8 fructose metabolic process GO:0006000 9.4 FBP2 FBP1
9 fructose 1,6-bisphosphate metabolic process GO:0030388 9.37 FBP2 FBP1
10 biotin metabolic process GO:0006768 9.32 PCCA PC
11 sucrose biosynthetic process GO:0005986 8.96 FBP2 FBP1
12 gluconeogenesis GO:0006094 8.92 PC G6PC1 FBP2 FBP1

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

# Name GO ID Score Top Affiliating Genes
1 catalytic activity GO:0003824 9.35 PC GCK FBP2 FBP1 FAH
2 phosphotransferase activity, alcohol group as acceptor GO:0016773 9.32 GCK G6PC1
3 phosphoric ester hydrolase activity GO:0042578 9.26 FBP2 FBP1
4 biotin binding GO:0009374 9.16 PCCA PC
5 fructose 1,6-bisphosphate 1-phosphatase activity GO:0042132 8.62 FBP2 FBP1

Sources for Fructose-1,6-Bisphosphatase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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