FBP1D
MCID: FRC001
MIFTS: 49

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 56 12 74 24 52 58 73 36 15
Fructose-1,6-Diphosphatase Deficiency 12 58 43 71
Fructose 1,6 Diphosphatase Deficiency 24 52
Baker-Winegrad Disease 52 71
Fbpase Deficiency 24 58
Fbp1d 56 73
Fructose 1 Phosphate Aldolase Deficiency 12
Hereditary Fructose Intolerance Syndrome 71
Fbp1 Deficiency 24

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:

56
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

NIH Rare Diseases : 52 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 gestational diabetes and hypoglycemia, 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 metabolic acidosis and abnormal enzyme/coenzyme activity

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 : 56 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)

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 gestational diabetes 29.6 GCK GCG ABCC8
2 hypoglycemia 29.5 PC GCK GCG G6PC FBP1 ABCC8
3 hyperglycemia 29.3 GCK GCG G6PC ABCC8
4 lactic acidosis 10.7
5 metabolic acidosis 10.7
6 autosomal recessive disease 10.5
7 fructose intolerance, hereditary 10.5
8 hyperuricemia 10.5
9 hypertriglyceridemia, familial 10.4
10 glycogen storage disease 10.4
11 tyrosinosis 10.3
12 glycerol kinase deficiency 10.3
13 gastroenteritis 10.3
14 glucosephosphate dehydrogenase deficiency 10.3
15 cataract 10.3
16 growth hormone deficiency 10.3
17 yemenite deaf-blind hypopigmentation syndrome 10.3
18 kala-azar 1 10.3
19 alacrima, achalasia, and mental retardation syndrome 10.3
20 sensorineural hearing loss 10.3
21 reye syndrome 10.3
22 status epilepticus 10.3
23 brain edema 10.3
24 mitochondrial metabolism disease 10.3
25 leishmaniasis 10.3
26 visceral leishmaniasis 10.3
27 mitochondrial disorders 10.3
28 fasting hypoglycemia 10.3
29 inherited metabolic disorder 10.2
30 biotin deficiency 9.9 PCCA PC
31 glycogen storage disease ia 9.9 GCG G6PC FBP1
32 munchausen by proxy 9.9 GCK ABCC8
33 maturity-onset diabetes of the young, type 8, with exocrine dysfunction 9.8 GCK ABCC8
34 maturity-onset diabetes of the young, type 13 9.8 GCK ABCC8
35 fanconi-bickel syndrome 9.8 G6PC ABCC8
36 hyperinsulinemic hypoglycemia, familial, 7 9.8 GCK ABCC8
37 maturity-onset diabetes of the young, type 7 9.8 GCK ABCC8
38 maturity-onset diabetes of the young, type 9 9.8 GCK ABCC8
39 maturity-onset diabetes of the young, type 6 9.8 GCK ABCC8
40 maturity-onset diabetes of the young, type 4 9.8 GCK ABCC8
41 diabetes mellitus, permanent neonatal 4 9.8 GCK ABCC8
42 acute insulin response 9.7 GCG ABCC8
43 glucose metabolism disease 9.7 GCK GCG G6PC
44 renal cysts and diabetes syndrome 9.7 GCK ABCC8
45 multiple carboxylase deficiency 9.7 PCCA PC
46 maturity-onset diabetes of the young, type 3 9.7 GCK ABCC8
47 hyperinsulinemic hypoglycemia, familial, 6 9.7 PC GCK ABCC8
48 monogenic diabetes 9.7 GCK ABCC8
49 abdominal obesity-metabolic syndrome 1 9.6 PCCA GCK GCG
50 rare diabetes mellitus type 2 9.6 GCK 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 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 metabolic acidosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001942
2 abnormal enzyme/coenzyme activity 58 31 hallmark (90%) Very frequent (99-80%) HP:0012379
3 vomiting 58 31 frequent (33%) Frequent (79-30%) HP:0002013
4 hyperuricemia 58 31 frequent (33%) Frequent (79-30%) HP:0002149
5 diarrhea 58 31 frequent (33%) Frequent (79-30%) HP:0002014
6 fasting hypoglycemia 58 31 frequent (33%) Frequent (79-30%) HP:0003162
7 intermittent lactic acidemia 58 31 frequent (33%) Frequent (79-30%) HP:0004913
8 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
9 hepatomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002240
10 muscular hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001252
11 irritability 58 31 occasional (7.5%) Occasional (29-5%) HP:0000737
12 hepatic steatosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001397
13 elevated hepatic transaminase 58 31 occasional (7.5%) Occasional (29-5%) HP:0002910
14 pallor 58 31 occasional (7.5%) Occasional (29-5%) HP:0000980
15 ventriculomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002119
16 neonatal hypoglycemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001998
17 tachycardia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001649
18 respiratory distress 58 31 occasional (7.5%) Occasional (29-5%) HP:0002098
19 episodic tachypnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002876
20 coma 58 31 occasional (7.5%) Occasional (29-5%) HP:0001259
21 excessive daytime somnolence 58 31 occasional (7.5%) Occasional (29-5%) HP:0001262
22 drowsiness 58 31 occasional (7.5%) Occasional (29-5%) HP:0002329
23 neonatal hyperbilirubinemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003265
24 apneic episodes in infancy 58 31 occasional (7.5%) Occasional (29-5%) HP:0005949
25 ketosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001946
26 reye syndrome-like episodes 58 31 occasional (7.5%) Occasional (29-5%) HP:0006582
27 intermittent hyperventilation 58 31 occasional (7.5%) Occasional (29-5%) HP:0004879
28 increased urinary glycerol 58 31 occasional (7.5%) Occasional (29-5%) HP:0040301
29 seizure 31 occasional (7.5%) HP:0001250
30 hyperalaninemia 58 31 very rare (1%) Very rare (<4-1%) HP:0003348
31 dyspnea 58 31 Occasional (29-5%) HP:0002094
32 hypoglycemia 58 31 Very frequent (99-80%) HP:0001943
33 seizures 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 generalized hypotonia 31 HP:0001290
40 hyperventilation 31 HP:0002883

Symptoms via clinical synopsis from OMIM:

56
Abdomen Liver:
hepatomegaly

Respiratory:
dyspnea
apnea
hyperventilation

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

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


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

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, Testes, Neutrophil

Publications for Fructose-1,6-Bisphosphatase Deficiency

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

(show top 50) (show all 102)
# Title Authors PMID Year
1
Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency. 61 24 6 56
9382095 1997
2
Identification of a genetic mutation in a family with fructose-1,6- bisphosphatase deficiency. 61 6 56
7763253 1995
3
Two newly identified genomic mutations in a Japanese female patient with fructose-1,6-bisphosphatase (FBPase) deficiency. 56 6
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. 56 24 61
7558035 1995
5
Fructose-1,6-bisphosphatase deficiency: severe phenotype with normal leukocyte enzyme activity. 61 56 24
7807945 1994
6
Fasting hypoglycaemia and metabolic acidosis associated with deficiency of hepatic fructose-1,6-diphosphatase activity. 24 56
4193749 1970
7
Fructose-1,6-Bisphosphatase Deficiency 6 61
31804789 2019
8
Fructose-1,6-diphosphatase deficiency in Israel. 56 61
1995492 1991
9
Biochemical and clinical observations in four patients with fructose-1,6-diphosphatase deficiency. 61 56
2347355 1990
10
[Fructose 1,6-diphosphatase deficiency in 2 sisters]. 61 56
175754 1975
11
"Ketotic hypoglycemia" due to hepatic fructose-1,6-diphosphatase deficiency: treatment with folic acid. 56 61
4341454 1972
12
Hepatic fructose-1,6-diphosphatase deficiency. A cause of lactic acidosis and hypoglycemia in infancy. 56 61
4341015 1972
13
Detection of fructose-1,6-diphosphatase deficiency with use of white blood cells. 56 61
4334313 1972
14
Infantile lactic acidosis due to hereditary fructose 1,6-diphosphatase deficiency. 61 56
4335192 1971
15
Genetic analysis of patients with fructose-1,6-bisphosphatase deficiency. 24 61
30858132 2019
16
Fructose-1,6-bisphosphatase deficiency presented with complex febrile convulsion. 61 24
30927757 2019
17
Fructose-1,6-bisphosphatase deficiency as a cause of recurrent hypoglycemia and metabolic acidosis: Clinical and molecular findings in Malaysian patients. 24 61
29203193 2018
18
Clinical and Molecular Characterization of Patients with Fructose 1,6-Bisphosphatase Deficiency. 61 24
28420223 2017
19
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. 24 61
27101822 2016
20
Fructose 1,6-bisphosphatase deficiency: clinical, biochemical and genetic features in French patients. 61 24
25601412 2015
21
Fructose-1,6-bisphosphatase deficiency: a case of a successful pregnancy by closely monitoring metabolic control. 24 61
24470127 2014
22
Transient pseudo-hypertriglyceridemia: a useful biochemical marker of fructose-1,6-bisphosphatase deficiency. 24 61
23881342 2013
23
Recurrent infantile hypoglycemia due to combined fructose-1,6-diphosphatase deficiency and growth hormone deficiency. 24 61
23585210 2013
24
Fructose 1,6-bisphosphatase deficiency: enzyme and mutation analysis performed on calcitriol-stimulated monocytes with a note on long-term prognosis. 61 24
20151204 2010
25
Three successful pregnancies through dietary management of fructose-1,6-bisphosphatase deficiency. 61 24
17705024 2007
26
[Fructose 1,6-bisphosphatase deficiency as a cause of recessive serious hypoglycaemia]. 61 24
17125659 2006
27
Mutation spectrum in patients with fructose-1,6-bisphosphatase deficiency. 61 24
11286391 2001
28
Urinary sugar phosphates and related organic acids in fructose-1,6-diphosphatase deficiency. 61 24
8412001 1993
29
Clinical and molecular characterization of Indian patients with fructose-1, 6-bisphosphatase deficiency: Identification of a frequent variant (E281K). 24
29774539 2018
30
International practices in the dietary management of fructose 1-6 biphosphatase deficiency. 24
29370874 2018
31
Genetic analysis of fructose-1,6-bisphosphatase (FBPase) deficiency in nine consanguineous Pakistani families. 24
29016355 2017
32
Parental influence on human germline de novo mutations in 1,548 trios from Iceland. 24
28959963 2017
33
Demonstration of fructose 1,6-bisphosphatase in human term placenta. 24
1847882 1991
34
Glycerol blanking in triglyceride assays: is it necessary? 24
2136327 1990
35
Fructose-1,6-bisphosphatase deficiency with confirmed molecular diagnosis. An important cause of hypoglycemia in children. 61
32020156 2020
36
Exon 2 deletion represents a common mutation in Turkish patients with fructose-1,6-bisphosphatase deficiency. 61
31278438 2019
37
Genetic Analysis of Tyrosinemia Type 1 and Fructose-1, 6 Bisphosphatase Deficiency Affected Pakistani Cohorts. 61
31584309 2019
38
[Severe lactic acidosis requiring continuos haemodiafiltration in a young patient with unrecognized metabolic abnormality. Case report]. 61
29390242 2018
39
A Chinese Adult Patient with Fructose 1,6-bisphosphatase Deficiency. 61
28776561 2017
40
Fructose-1,6-bisphosphatase deficiency caused by a novel homozygous Alu element insertion in the FBP1 gene and delayed diagnosis. 61
28599390 2017
41
Inborn Errors of Fructose Metabolism. What Can We Learn from Them? 61
28368361 2017
42
A Japanese boy with fructose-1,6-bisphosphatase deficiency who had a novel FBP1 mutation (p.Phe90Val). 61
29026278 2017
43
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
44
Fructose-1,6-diphosphatase deficiency: a treatable neurometabolic disorder. 61
25246452 2014
45
Etiology and outcome of inborn errors of metabolism. 61
24601187 2013
46
Effect of phosphoglycerate mutase and fructose 1,6-bisphosphatase deficiency on symbiotic Burkholderia phymatum. 61
22282515 2012
47
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
48
Novel FBP1 gene mutations in Arab patients with fructose-1,6-bisphosphatase deficiency. 61
19259699 2009
49
Fructose-1,6-diphosphatase deficiency: a rare cause of prolonged prothrombin time. 61
15064857 2004
50
Fructose 1,6 diphosphatase deficiency in a Turkish infant. 61
12898237 2003

Variations for Fructose-1,6-Bisphosphatase Deficiency

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

6 (show top 50) (show all 80) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FBP1 NM_000507.4(FBP1):c.720_729del (p.Tyr241fs)deletion Pathogenic 403701 rs1060499726 9:97367835-97367844 9:94605553-94605562
2 FBP1 NM_000507.4(FBP1):c.704del (p.Pro235fs)deletion Pathogenic 403705 rs774362519 9:97369098-97369098 9:94606816-94606816
3 FBP1 NM_000507.4(FBP1):c.825+1G>ASNV Pathogenic 403706 rs111437558 9:97367738-97367738 9:94605456-94605456
4 FBP1 NM_000507.4(FBP1):c.472C>T (p.Arg158Trp)SNV Pathogenic 561988 rs766005419 9:97372298-97372298 9:94610016-94610016
5 FBP1 NM_000507.4(FBP1):c.841G>T (p.Glu281Ter)SNV Pathogenic 548480 rs566453434 9:97365839-97365839 9:94603557-94603557
6 FBP1 NM_000507.4(FBP1):c.778G>A (p.Gly260Arg)SNV Pathogenic 561989 rs780803192 9:97367786-97367786 9:94605504-94605504
7 FBP1 NM_000507.4(FBP1):c.1_170del (p.Met1fs)deletion Pathogenic 619962 rs1563991556 9:97401423-97401592 9:94639141-94639310
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.544del (p.Val182fs)deletion Pathogenic 835572 9:97372226-97372226 9:94609944-94609944
10 FBP1 NM_000507.4(FBP1):c.960_961insG (p.Ser321fs)insertion Pathogenic 867 rs757653154 9:97365719-97365720 9:94603437-94603438
11 FBP1 NM_000507.4(FBP1):c.490G>A (p.Gly164Ser)SNV Pathogenic 868 rs121918188 9:97372280-97372280 9:94609998-94609998
12 FBP1 NM_000507.4(FBP1):c.530C>A (p.Ala177Asp)SNV Pathogenic 869 rs121918189 9:97372240-97372240 9:94609958-94609958
13 FBP1 NM_000507.4(FBP1):c.88G>T (p.Glu30Ter)SNV Pathogenic 870 rs121918190 9:97401505-97401505 9:94639223-94639223
14 FBP1 NM_000507.4(FBP1):c.581T>C (p.Phe194Ser)SNV Pathogenic 871 rs121918191 9:97369221-97369221 9:94606939-94606939
15 FBP1 NM_000507.4(FBP1):c.851C>G (p.Pro284Arg)SNV Pathogenic 872 rs121918192 9:97365829-97365829 9:94603547-94603547
16 FBP1 NC_000009.12:g.(?_94639121)_(94639330_?)deldeletion Pathogenic 831512 9:97401403-97401612
17 FBP1 NM_000507.4(FBP1):c.355G>A (p.Asp119Asn)SNV Pathogenic/Likely pathogenic 214364 rs758609113 9:97380121-97380121 9:94617839-94617839
18 FBP1 NM_000507.4(FBP1):c.611_614del (p.Lys204fs)deletion Pathogenic/Likely pathogenic 561985 rs761470205 9:97369188-97369191 9:94606906-94606909
19 FBP1 NM_000507.4(FBP1):c.841G>A (p.Glu281Lys)SNV Pathogenic/Likely pathogenic 381580 rs566453434 9:97365839-97365839 9:94603557-94603557
20 FBP1 NM_000507.4(FBP1):c.426+1G>TSNV Likely pathogenic 561984 rs1563983184 9:97380049-97380049 9:94617767-94617767
21 FBP1 NM_000507.4(FBP1):c.349T>C (p.Cys117Arg)SNV Likely pathogenic 561986 rs1563983269 9:97380127-97380127 9:94617845-94617845
22 FBP1 NC_000009.12:g.94620329_94620491del163deletion Likely pathogenic 561987 rs1563984164 9:97382611-97382773 9:94620329-94620491
23 FBP1 NM_000507.4(FBP1):c.779del (p.Gly260fs)deletion Likely pathogenic 526506 rs1554679825 9:97367785-97367785 9:94605503-94605503
24 FBP1 NM_000507.4(FBP1):c.705A>G (p.Pro235=)SNV Conflicting interpretations of pathogenicity 511580 rs112446147 9:97369097-97369097 9:94606815-94606815
25 FBP1 NM_000507.4(FBP1):c.334-15T>CSNV Conflicting interpretations of pathogenicity 214357 rs370920869 9:97380157-97380157 9:94617875-94617875
26 FBP1 NM_000507.4(FBP1):c.826-15G>ASNV Conflicting interpretations of pathogenicity 137366 rs148942437 9:97365869-97365869 9:94603587-94603587
27 FBP1 NM_000507.4(FBP1):c.730C>T (p.Arg244Trp)SNV Conflicting interpretations of pathogenicity 214367 rs200679026 9:97367834-97367834 9:94605552-94605552
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.237C>T (p.Asn79=)SNV Conflicting interpretations of pathogenicity 137363 rs201591116 9:97382707-97382707 9:94620425-94620425
30 FBP1 NM_000507.4(FBP1):c.826-15G>TSNV Conflicting interpretations of pathogenicity 377875 rs148942437 9:97365869-97365869 9:94603587-94603587
31 FBP1 NM_000507.4(FBP1):c.102G>C (p.Leu34=)SNV Conflicting interpretations of pathogenicity 367558 rs143832764 9:97401491-97401491 9:94639209-94639209
32 FBP1 NM_000507.4(FBP1):c.-59A>TSNV Uncertain significance 367561 rs913996916 9:97401651-97401651 9:94639369-94639369
33 FBP1 NM_000507.4(FBP1):c.-208C>GSNV Uncertain significance 367564 rs759920853 9:97401800-97401800 9:94639518-94639518
34 FBP1 NM_001127628.2(FBP1):c.-24-191G>CSNV Uncertain significance 367565 rs987543611 9:97401807-97401807 9:94639525-94639525
35 FBP1 NM_001127628.2(FBP1):c.-24-195C>TSNV Uncertain significance 367566 rs1057515693 9:97401811-97401811 9:94639529-94639529
36 FBP1 NM_000507.4(FBP1):c.-154C>GSNV Uncertain significance 367562 rs28382860 9:97401746-97401746 9:94639464-94639464
37 FBP1 NM_001127628.1(FBP1):c.-24-321C>GSNV Uncertain significance 369631 rs28382859 9:97401937-97401937 9:94639655-94639655
38 FBP1 NM_000507.4(FBP1):c.668C>A (p.Ala223Asp)SNV Uncertain significance 214369 rs369420846 9:97369134-97369134 9:94606852-94606852
39 FBP1 NM_000507.4(FBP1):c.477C>G (p.Asn159Lys)SNV Uncertain significance 214358 rs199531187 9:97372293-97372293 9:94610011-94610011
40 FBP1 NM_000507.4(FBP1):c.971A>G (p.Asp324Gly)SNV Uncertain significance 859120 9:97365709-97365709 9:94603427-94603427
41 FBP1 NM_000507.4(FBP1):c.275C>T (p.Thr92Met)SNV Uncertain significance 214363 rs141270413 9:97382669-97382669 9:94620387-94620387
42 FBP1 NM_000507.4(FBP1):c.697T>C (p.Phe233Leu)SNV Uncertain significance 367557 rs2297085 9:97369105-97369105 9:94606823-94606823
43 FBP1 NM_000507.4(FBP1):c.14C>A (p.Ala5Glu)SNV Uncertain significance 367559 rs759615686 9:97401579-97401579 9:94639297-94639297
44 FBP1 NM_000507.4(FBP1):c.731G>A (p.Arg244Gln)SNV Uncertain significance 367556 rs775808681 9:97367833-97367833 9:94605551-94605551
45 FBP1 NM_000507.4(FBP1):c.-54C>ASNV Uncertain significance 367560 rs1057515690 9:97401646-97401646 9:94639364-94639364
46 FBP1 NM_001127628.2(FBP1):c.-24-214G>ASNV Uncertain significance 367567 rs974736435 9:97401830-97401830 9:94639548-94639548
47 FBP1 NM_001127628.2(FBP1):c.-24-222G>TSNV Uncertain significance 367568 rs921192380 9:97401838-97401838 9:94639556-94639556
48 FBP1 NM_000507.4(FBP1):c.889A>G (p.Thr297Ala)SNV Uncertain significance 367555 rs758841300 9:97365791-97365791 9:94603509-94603509
49 FBP1 NM_000507.4(FBP1):c.966del (p.Asp323fs)deletion Uncertain significance 548499 rs747269745 9:97365714-97365714 9:94603432-94603432
50 FBP1 NM_000507.4(FBP1):c.271G>T (p.Ala91Ser)SNV Uncertain significance 577048 rs41316538 9:97382673-97382673 9:94620391-94620391

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
13.69 PCCA PC GCK GCG G6PC FBP2
2
Show member pathways
12.48 GCK G6PC FBP2 FBP1
3
Show member pathways
12.47 PC GCK G6PC FBP2 FBP1
4
Show member pathways
12.13 PC GCK G6PC FBP2 FBP1
5
Show member pathways
12.11 G6PC 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 G6PC ABCC8
9 11.05 GCK GCG G6PC FBP2 FBP1
10
Show member pathways
10.45 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 negative regulation of Ras protein signal transduction GO:0046580 9.49 RASA4 FBP1
3 cellular glucose homeostasis GO:0001678 9.48 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 G6PC
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 G6PC 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 9.62 PC GCK FBP2 FBP1
2 phosphotransferase activity, alcohol group as acceptor GO:0016773 9.26 GCK G6PC
3 phosphoric ester hydrolase activity GO:0042578 9.16 FBP2 FBP1
4 biotin binding GO:0009374 8.96 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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