PENTOSE PHOSPHATE PATHWAY (PW:0000045)
Description
The pentose phosphate pathway (PPP), also known as the pentose phosphate shunt, represents an alternate route of glucose oxidation. The major route of glucose oxidation in many tissues is via glycolysis. However, 10-20% of glucose will be oxidized via the PPP and this percentage may be higher in tissues involved in lipid biosynthesis. The pathway consists of an oxidative and a non-oxidative phase. The oxidative phase is a series of three irreversible reactions that produce the reducing equivalent NADPH and the pentose Ru5P. NADPH is required for the reductive biosynthesis of fatty acids and cholesterol, cellular antioxidation (reduction of glutathione from its oxidized form by glutathione reductase) and superoxide generation (substrate of NADPH oxidase). Ru5P is epimerized to Xu5P or isomerized to R5P by the action of Rpe and Rpia, respectively. R5P is a precursor for nucleotide and nucleic acid synthesis. If the need for NADPH exceeds the need for R5P, Xu5P and R5P are formed in a ratio of 2:1 and metabolized to GAP and F6P via three reversible reactions involving carbon-carbon cleavage and transfer of C
2 and C
3 units. GAP and F6P are intermediates in the glycolytic and gluconeogenic pathway; they can be diverted back to R5P in the reverse reactions of the non-oxidative phase if the need for R5P increases (note the directionality of arrows). In the first and rate-limiting step of the oxidative phase, G6P is dehydrogenated by G6pd to produce the first NADPH and 6-phosphogluconolactone which is rapidly and irreversibly hydrolyzed to 6-phosphoglucone. This product is oxidatively decarboxylated to yield the second NADPH and Ru5P. The second and third reactions of the oxidative phase are carried out by Pgls and Pgd, respectively. The first reaction of the non-oxidative phase involves the conversion of Ru5P to Xy5P and R5P. If the non-oxidative phase proceeds, transketolase catalyzes the transfer of a C
2 unit from Xu5P to R5P yielding GAP and S7P. A C
3 unit is transferred from S7P to GAP in the reaction catalyzed by transaldolase to yield E4P and F6P. A C
2 unit is transferred from a second Xu5P to E4P to yield GAP and a second F6P molecule, a reaction also catalyzed by transketolase. Transketolase uses thiamine pyrophosphate as a co-factor. The carbon-carbon rearrangements underlie the pentose (Ru5P) to hexose (F6P) transformation. Despite the importance of the PPP in a number of cellular processes and its position at the crossroads of many metabolic pathways, little is known about how the pathway is regulated. Alterations in PPP components have been linked to several conditions.
To see the ontology report for annotations, GViewer and download, click here [Click here to see the ontology report for associated GO term - GO:0006098 , KEGG map -
map00030 and entry at
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Pathway Diagram:
Genes in Pathway:
G
Aldoa
aldolase, fructose-bisphosphate A
IEA ISO
KEGG SMPDB
SMP:00031 rno:00030
NCBI chr 1:181,402,275...181,407,476
Ensembl chr 1:181,402,275...181,406,182
G
Aldoart2
aldolase 1 A retrogene 2
ISO
SMPDB
SMP:00031
NCBI chr 6:72,939,821...72,941,511
Ensembl chr 6:72,939,788...72,941,709
G
Aldob
aldolase, fructose-bisphosphate B
IEA
KEGG
rno:00030
NCBI chr 5:63,889,045...63,902,086
Ensembl chr 5:63,889,046...63,902,116
G
Aldoc
aldolase, fructose-bisphosphate C
IEA
KEGG
rno:00030
NCBI chr10:63,217,477...63,221,066
Ensembl chr10:63,217,451...63,221,066
G
Dera
deoxyribose-phosphate aldolase
ISO
SMPDB
SMP:00031
NCBI chr 4:170,663,689...170,742,469
Ensembl chr 4:170,663,665...170,758,865
G
Fbp1
fructose-bisphosphatase 1
IEA ISO
KEGG SMPDB
SMP:00031 rno:00030
NCBI chr17:2,207,271...2,230,076
Ensembl chr17:2,208,031...2,230,071
G
Fbp2
fructose-bisphosphatase 2
IEA
KEGG
rno:00030
NCBI chr17:2,236,088...2,253,702
Ensembl chr17:2,236,336...2,253,698
G
G6pd
glucose-6-phosphate dehydrogenase
IEA ISO IDA
KEGG SMPDB RGD
PMID:2843500
SMP:00031 rno:00030, RGD:1599574
NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801
G
Gpi
glucose-6-phosphate isomerase
IEA ISO
KEGG SMPDB
SMP:00031 rno:00030
NCBI chr 1:86,828,211...86,856,077
Ensembl chr 1:86,828,216...86,856,086
G
H6pd
hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)
IEA
KEGG
rno:00030
NCBI chr 5:160,434,499...160,470,203
Ensembl chr 5:160,438,697...160,470,171
G
Pfkl
phosphofructokinase, liver type
IEA ISO
KEGG SMPDB
SMP:00031 rno:00030
NCBI chr20:10,664,285...10,686,324
Ensembl chr20:10,664,272...10,686,315
G
Pfkm
phosphofructokinase, muscle
IEA
KEGG
rno:00030
NCBI chr 7:129,221,679...129,259,192
Ensembl chr 7:129,221,653...129,259,192
G
Pfkp
phosphofructokinase, platelet
IEA
KEGG
rno:00030
NCBI chr17:63,729,743...63,794,026
Ensembl chr17:63,729,780...63,794,018
G
Pgd
phosphogluconate dehydrogenase
IDA ISO
SMPDB RGD
PMID:2843500
SMP:00031, RGD:1599574
NCBI chr 5:159,582,746...159,598,945
Ensembl chr 5:159,561,271...159,742,778
G
Pgls
6-phosphogluconolactonase
IEA ISO
KEGG SMPDB
SMP:00031 rno:00030
NCBI chr16:18,300,317...18,305,803
Ensembl chr16:18,300,317...18,305,803
G
Pgm1
phosphoglucomutase 1
IEA ISO
KEGG SMPDB
SMP:00031 rno:00030
NCBI chr 5:114,595,298...114,654,728
Ensembl chr 5:114,595,293...114,654,728
G
Prps1
phosphoribosyl pyrophosphate synthetase 1
IEA
KEGG
rno:00030
NCBI chr X:104,132,139...104,154,191
Ensembl chr X:104,132,141...104,154,187
G
Prps1l1
phosphoribosyl pyrophosphate synthetase 1-like 1
IEA ISO
KEGG SMPDB
SMP:00031 rno:00030
NCBI chr 6:51,684,960...51,686,650
Ensembl chr 6:51,684,948...51,687,291
G
Prps2
phosphoribosyl pyrophosphate synthetase 2
IEA
KEGG
rno:00030
NCBI chr X:26,975,915...27,013,184
Ensembl chr X:26,976,061...27,013,181
G
Rbks
ribokinase
IEA ISO
KEGG SMPDB
SMP:00031 rno:00030
NCBI chr 6:24,747,651...24,824,290
Ensembl chr 6:24,747,293...24,824,290
G
Rgn
regucalcin
IEA
KEGG
rno:00030
NCBI chr X:1,619,030...1,634,456
Ensembl chr X:1,619,032...1,634,450
G
Rpe
ribulose-5-phosphate-3-epimerase
IDA ISO IEA
SMPDB KEGG RGD
PMID:2843500
SMP:00031 rno:00030, RGD:1599574
NCBI chr 9:68,191,027...68,211,295
Ensembl chr 9:68,191,292...68,211,591
G
Rpia
ribose 5-phosphate isomerase A
IDA ISO IEA
SMPDB KEGG RGD
PMID:2843500
SMP:00031 rno:00030, RGD:1599574
NCBI chr 4:102,723,712...102,749,374
Ensembl chr 4:102,723,712...102,749,355
G
Taldo1
transaldolase 1
IEA ISO IDA
KEGG SMPDB RGD
PMID:2843500
SMP:00031 rno:00030, RGD:1599574
NCBI chr 1:196,493,634...196,503,965
Ensembl chr 1:196,493,589...196,503,974
G
Tkt
transketolase
IEA ISO IDA
KEGG SMPDB RGD
PMID:2843500
SMP:00031 rno:00030, RGD:1599574
NCBI chr16:5,723,764...5,748,702
Ensembl chr16:5,723,762...5,748,698
G
Tktl1
transketolase-like 1
IEA
KEGG
rno:00030
NCBI chr X:151,954,261...151,987,208
Ensembl chr X:151,954,175...151,987,208
G
Tktl2
transketolase-like 2
IEA
KEGG
rno:00030
NCBI chr16:23,202,460...23,209,741
Ensembl chr16:23,202,453...23,209,742
G
Rpe
ribulose-5-phosphate-3-epimerase
TAS
RGD
PMID:12721358
RGD:1641814
NCBI chr 9:68,191,027...68,211,295
Ensembl chr 9:68,191,292...68,211,591
G
Rpia
ribose 5-phosphate isomerase A
TAS
RGD
PMID:12721358
RGD:1641814
NCBI chr 4:102,723,712...102,749,374
Ensembl chr 4:102,723,712...102,749,355
G
Taldo1
transaldolase 1
IDA TAS
RGD
PMID:8477719 PMID:12721358
RGD:1641803 , RGD:1641814
NCBI chr 1:196,493,634...196,503,965
Ensembl chr 1:196,493,589...196,503,974
G
Tkt
transketolase
TAS IDA
RGD
PMID:9924800 PMID:16116031 PMID:12721358
RGD:1641798 , RGD:1580394 , RGD:1641814
NCBI chr16:5,723,764...5,748,702
Ensembl chr16:5,723,762...5,748,698
G
G6pd
glucose-6-phosphate dehydrogenase
ISO
RGD
PMID:15466941
RGD:1625539
NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801
G
Pgd
phosphogluconate dehydrogenase
ISO
RGD
PMID:15466941
RGD:1625539
NCBI chr 5:159,582,746...159,598,945
Ensembl chr 5:159,561,271...159,742,778
G
Pgls
6-phosphogluconolactonase
IDA
RGD
PMID:971315
RGD:2311501
NCBI chr16:18,300,317...18,305,803
Ensembl chr16:18,300,317...18,305,803
Pathway Gene Annotations
Disease Annotations Associated with Genes in the pentose phosphate pathway
Aldoa autism spectrum disorder , autistic disorder , Breast Neoplasms , chromosome 16p11.2 deletion syndrome, 593-kb , chromosome 16p11.2 duplication syndrome , coronin-1A deficiency , cystadenoma , Endotoxemia , episodic kinesigenic dyskinesia 1 , genetic disease , Glycogen Storage Disease XII , hereditary fructose intolerance syndrome , lung adenocarcinoma , Metabolic Syndrome , Myocardial Ischemia , Neoplasm Invasiveness , Neoplasm Metastasis , Neurodevelopmental Disorders , Reperfusion Injury , schizophrenia , spondylocostal dysostosis 5 Aldoart2 autism spectrum disorder , autistic disorder , chromosome 16p11.2 deletion syndrome, 593-kb , chromosome 16p11.2 duplication syndrome , coronin-1A deficiency , cystadenoma , genetic disease , Glycogen Storage Disease XII , schizophrenia , spondylocostal dysostosis 5 Aldob autoimmune hepatitis , Chemical and Drug Induced Liver Injury , diabetes mellitus , Experimental Diabetes Mellitus , fructose-1,6-bisphosphatase deficiency , genetic disease , hereditary fructose intolerance syndrome , Hypoxia , intellectual disability , liver benign neoplasm , Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency , peritonitis , Stomach Neoplasms , type 2 diabetes mellitus Aldoc autoimmune disease of the nervous system , borna disease , genetic disease , hepatocellular carcinoma , Stroke Dera COVID-19 , genetic disease Fbp1 Acute Liver Failure , Colonic Neoplasms , fructose-1,6-bisphosphatase deficiency , genetic disease , hepatocellular carcinoma , hiatus hernia , Parkinson's disease , schizophrenia , Stomach Neoplasms Fbp2 Acute Liver Failure , Childhood-Onset Remitting Leukodystrophy , genetic disease , hiatus hernia G6pd acquired angioedema , acute kidney failure , adrenoleukodystrophy , ALAD-Deficiency Porphyria , anemia , autistic disorder , Barth syndrome , Brain Injuries , cataract , cerebral creatine deficiency syndrome 1 , cerebrovascular disease , Chemical and Drug Induced Liver Injury , cholestasis , chronic granulomatous disease , congenital hemolytic anemia , congenital hypothyroidism , congenital nonspherocytic hemolytic anemia , contact dermatitis , diabetes mellitus , Diabetic Nephropathies , dyskeratosis congenita , ectodermal dysplasia and immunodeficiency 1 , Emery-Dreifuss muscular dystrophy , Experimental Diabetes Mellitus , favism , Fever , genetic disease , glucosephosphate dehydrogenase deficiency , Hemolysis , hemolytic anemia , hepatic encephalopathy , hepatocellular carcinoma , Hypercholesterolemia , hyperhomocysteinemia , Hypertriglyceridemia , immunodeficiency 14 , immunodeficiency 33 , Insulin Resistance , kidney disease , Liver Injury , malaria , metabolic dysfunction-associated steatotic liver disease , Metabolic Syndrome , Multi-Infarct Dementia , myocardial infarction , Neonatal Hyperbilirubinemia , neonatal jaundice , obesity , paraplegia , periventricular nodular heterotopia , phagocyte bactericidal dysfunction , phenylketonuria , Plasmodium falciparum malaria , Pulmonary Hypertension, Hypoxia-Induced , renovascular hypertension , Reperfusion Injury , severe congenital encephalopathy due to MECP2 mutation , Splenomegaly , syndromic X-linked intellectual disability Lubs type , Testicular Injury , transient cerebral ischemia , type 1 diabetes mellitus , type 2 diabetes mellitus Gpi acute lymphoblastic leukemia , acute myeloid leukemia , Animal Disease Models , Breast Neoplasms , congenital hemolytic anemia , congenital nonspherocytic hemolytic anemia , Experimental Arthritis , genetic disease , hemolytic anemia , hereditary spastic paraplegia 75 , hereditary spherocytosis , intellectual disability , lung adenocarcinoma , Neoplasm Metastasis , neuromuscular disease , Nonspherocytic Hemolytic Anemia due to Glucose Phosphate Isomerase Deficiency H6pd Breast Neoplasms , Charcot-Marie-Tooth disease type 2 , chromosome 1p36 deletion syndrome , cortisone reductase deficiency , cortisone reductase deficiency 1 , Experimental Diabetes Mellitus , genetic disease , multiple sclerosis , Neurodevelopmental Disorders Pfkl autistic disorder , autoimmune polyendocrine syndrome type 1 , cataract 9 multiple types , developmental and epileptic encephalopathy 30 , genetic disease , homocystinuria , Neurodevelopmental Disorders , primary ciliary dyskinesia , progressive myoclonus epilepsy Pfkm Experimental Diabetes Mellitus , genetic disease , glycogen storage disease , glycogen storage disease IV , glycogen storage disease VII , Myocardial Ischemia , peroxisome biogenesis disorder 3B , Rhabdomyolysis Pfkp Experimental Liver Cirrhosis , genetic disease , schizophrenia , syndromic microphthalmia 5 Pgd Charcot-Marie-Tooth disease type 2 , chromosome 1p36 deletion syndrome , COVID-19 , genetic disease , hepatocellular carcinoma , immunodeficiency 14 Pgls genetic disease , osteoporosis Pgm1 Chemical and Drug Induced Liver Injury , Colorectal Neoplasms , congenital disorder of glycosylation , congenital disorder of glycosylation It , Craniosynostosis Syndrome, Autosomal Recessive , endometrial cancer , genetic disease , intellectual disability , Myocardial Ischemia , teratoma Prps1 Arts syndrome , autistic disorder , Charcot-Marie-Tooth disease type X , Charcot-Marie-Tooth disease X-linked recessive 5 , Developmental Disabilities , familial hypocalciuric hypercalcemia , fundus dystrophy , genetic disease , gout , Hearing Loss , Neurologic Manifestations , phosphoribosylpyrophosphate synthetase superactivity , retinitis pigmentosa , syndromic X-linked intellectual disability Lubs type , Weight Gain , X-linked deafness 1 Prps1l1 genetic disease , pleomorphic xanthoastrocytoma Prps2 autistic disorder , genetic disease , Neurodevelopmental Disorders Rbks genetic disease , Tatton-Brown-Rahman syndrome Rgn autistic disorder , Chemical and Drug Induced Liver Injury , Experimental Diabetes Mellitus , Experimental Liver Cirrhosis , Experimental Liver Neoplasms , familial hyperlipidemia , genetic disease , hepatocellular carcinoma , immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome , kidney disease , liver cirrhosis , neurodegenerative disease , Neurodevelopmental Disorders , stomach cancer , syndromic X-linked intellectual disability Lubs type , X-linked epilepsy with variable learning disabilities and behavior disorders , X-linked severe congenital neutropenia Rpe genetic disease , Neurodevelopmental Disorders , primary pulmonary hypertension , trichorhinophalangeal syndrome type I Rpia genetic disease , Ribose 5-Phosphate Isomerase Deficiency Taldo1 carbohydrate metabolic disorder , cataract , Chanarin-Dorfman syndrome , Chemical and Drug Induced Liver Injury , delta beta-thalassemia , developmental and epileptic encephalopathy , early infantile epileptic encephalopathy , genetic disease , hepatocellular carcinoma , immunodeficiency 39 , neuronal ceroid lipofuscinosis , Parkinson's disease , Segawa Syndrome, Autosomal Recessive , Transaldolase Deficiency Tkt Animal Mammary Neoplasms , carcinoma , Experimental Mammary Neoplasms , genetic disease , Hypoxia , Neoplasm Invasiveness , Short Stature, Developmental Delay, and Congenital Heart Defects , Wernicke encephalopathy Tktl1 adrenoleukodystrophy , autistic disorder , Barth syndrome , cerebral creatine deficiency syndrome 1 , dyskeratosis congenita , Emery-Dreifuss muscular dystrophy , favism , frontometaphyseal dysplasia , genetic disease , immunodeficiency 33 , Juberg Hayward Syndrome , Melnick-Needles syndrome , methylmalonic acidemia and homocysteinemia cblX type , otopalatodigital syndrome type 2 , paraplegia , periventricular nodular heterotopia , Periventricular Nodular Heterotopia 4 , severe congenital encephalopathy due to MECP2 mutation , Splenomegaly , syndromic X-linked intellectual disability Lubs type Tktl2 genetic disease
acquired angioedema G6pd acute kidney failure G6pd Acute Liver Failure Fbp1 , Fbp2 acute lymphoblastic leukemia Gpi acute myeloid leukemia Gpi adrenoleukodystrophy G6pd , Tktl1 ALAD-Deficiency Porphyria G6pd anemia G6pd Animal Disease Models Gpi Animal Mammary Neoplasms Tkt Arts syndrome Prps1 autism spectrum disorder Aldoa , Aldoart2 autistic disorder Aldoa , Aldoart2 , G6pd , Pfkl , Prps1 , Prps2 , Rgn , Tktl1 autoimmune disease of the nervous system Aldoc autoimmune hepatitis Aldob autoimmune polyendocrine syndrome type 1 Pfkl Barth syndrome G6pd , Tktl1 borna disease Aldoc Brain Injuries G6pd Breast Neoplasms Aldoa , Gpi , H6pd carbohydrate metabolic disorder Taldo1 carcinoma Tkt cataract G6pd , Taldo1 cataract 9 multiple types Pfkl cerebral creatine deficiency syndrome 1 G6pd , Tktl1 cerebrovascular disease G6pd Chanarin-Dorfman syndrome Taldo1 Charcot-Marie-Tooth disease type 2 H6pd , Pgd Charcot-Marie-Tooth disease type X Prps1 Charcot-Marie-Tooth disease X-linked recessive 5 Prps1 Chemical and Drug Induced Liver Injury Aldob , G6pd , Pgm1 , Rgn , Taldo1 Childhood-Onset Remitting Leukodystrophy Fbp2 cholestasis G6pd chromosome 16p11.2 deletion syndrome, 593-kb Aldoa , Aldoart2 chromosome 16p11.2 duplication syndrome Aldoa , Aldoart2 chromosome 1p36 deletion syndrome H6pd , Pgd chronic granulomatous disease G6pd Colonic Neoplasms Fbp1 Colorectal Neoplasms Pgm1 congenital disorder of glycosylation Pgm1 congenital disorder of glycosylation It Pgm1 congenital hemolytic anemia G6pd , Gpi congenital hypothyroidism G6pd congenital nonspherocytic hemolytic anemia G6pd , Gpi contact dermatitis G6pd coronin-1A deficiency Aldoa , Aldoart2 cortisone reductase deficiency H6pd cortisone reductase deficiency 1 H6pd COVID-19 Dera , Pgd Craniosynostosis Syndrome, Autosomal Recessive Pgm1 cystadenoma Aldoa , Aldoart2 delta beta-thalassemia Taldo1 developmental and epileptic encephalopathy Taldo1 developmental and epileptic encephalopathy 30 Pfkl Developmental Disabilities Prps1 diabetes mellitus Aldob , G6pd Diabetic Nephropathies G6pd dyskeratosis congenita G6pd , Tktl1 early infantile epileptic encephalopathy Taldo1 ectodermal dysplasia and immunodeficiency 1 G6pd Emery-Dreifuss muscular dystrophy G6pd , Tktl1 endometrial cancer Pgm1 Endotoxemia Aldoa episodic kinesigenic dyskinesia 1 Aldoa Experimental Arthritis Gpi Experimental Diabetes Mellitus Aldob , G6pd , H6pd , Pfkm , Rgn Experimental Liver Cirrhosis Pfkp , Rgn Experimental Liver Neoplasms Rgn Experimental Mammary Neoplasms Tkt familial hyperlipidemia Rgn familial hypocalciuric hypercalcemia Prps1 favism G6pd , Tktl1 Fever G6pd frontometaphyseal dysplasia Tktl1 fructose-1,6-bisphosphatase deficiency Aldob , Fbp1 fundus dystrophy Prps1 genetic disease Aldoa , Aldoart2 , Aldob , Aldoc , Dera , Fbp1 , Fbp2 , G6pd , Gpi , H6pd , Pfkl , Pfkm , Pfkp , Pgd , Pgls , Pgm1 , Prps1 , Prps1l1 , Prps2 , Rbks , Rgn , Rpe , Rpia , Taldo1 , Tkt , Tktl1 , Tktl2 glucosephosphate dehydrogenase deficiency G6pd glycogen storage disease Pfkm glycogen storage disease IV Pfkm glycogen storage disease VII Pfkm Glycogen Storage Disease XII Aldoa , Aldoart2 gout Prps1 Hearing Loss Prps1 Hemolysis G6pd hemolytic anemia G6pd , Gpi hepatic encephalopathy G6pd hepatocellular carcinoma Aldoc , Fbp1 , G6pd , Pgd , Rgn , Taldo1 hereditary fructose intolerance syndrome Aldoa , Aldob hereditary spastic paraplegia 75 Gpi hereditary spherocytosis Gpi hiatus hernia Fbp1 , Fbp2 homocystinuria Pfkl Hypercholesterolemia G6pd hyperhomocysteinemia G6pd Hypertriglyceridemia G6pd Hypoxia Aldob , Tkt immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome Rgn immunodeficiency 14 G6pd , Pgd immunodeficiency 33 G6pd , Tktl1 immunodeficiency 39 Taldo1 Insulin Resistance G6pd intellectual disability Aldob , Gpi , Pgm1 Juberg Hayward Syndrome Tktl1 kidney disease G6pd , Rgn liver benign neoplasm Aldob liver cirrhosis Rgn Liver Injury G6pd Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency Aldob lung adenocarcinoma Aldoa , Gpi malaria G6pd Melnick-Needles syndrome Tktl1 metabolic dysfunction-associated steatotic liver disease G6pd Metabolic Syndrome Aldoa , G6pd methylmalonic acidemia and homocysteinemia cblX type Tktl1 Multi-Infarct Dementia G6pd multiple sclerosis H6pd myocardial infarction G6pd Myocardial Ischemia Aldoa , Pfkm , Pgm1 Neonatal Hyperbilirubinemia G6pd neonatal jaundice G6pd Neoplasm Invasiveness Aldoa , Tkt Neoplasm Metastasis Aldoa , Gpi neurodegenerative disease Rgn Neurodevelopmental Disorders Aldoa , H6pd , Pfkl , Prps2 , Rgn , Rpe Neurologic Manifestations Prps1 neuromuscular disease Gpi neuronal ceroid lipofuscinosis Taldo1 Nonspherocytic Hemolytic Anemia due to Glucose Phosphate Isomerase Deficiency Gpi obesity G6pd osteoporosis Pgls otopalatodigital syndrome type 2 Tktl1 paraplegia G6pd , Tktl1 Parkinson's disease Fbp1 , Taldo1 peritonitis Aldob periventricular nodular heterotopia G6pd , Tktl1 Periventricular Nodular Heterotopia 4 Tktl1 peroxisome biogenesis disorder 3B Pfkm phagocyte bactericidal dysfunction G6pd phenylketonuria G6pd phosphoribosylpyrophosphate synthetase superactivity Prps1 Plasmodium falciparum malaria G6pd pleomorphic xanthoastrocytoma Prps1l1 primary ciliary dyskinesia Pfkl primary pulmonary hypertension Rpe progressive myoclonus epilepsy Pfkl Pulmonary Hypertension, Hypoxia-Induced G6pd renovascular hypertension G6pd Reperfusion Injury Aldoa , G6pd retinitis pigmentosa Prps1 Rhabdomyolysis Pfkm Ribose 5-Phosphate Isomerase Deficiency Rpia schizophrenia Aldoa , Aldoart2 , Fbp1 , Pfkp Segawa Syndrome, Autosomal Recessive Taldo1 severe congenital encephalopathy due to MECP2 mutation G6pd , Tktl1 Short Stature, Developmental Delay, and Congenital Heart Defects Tkt Splenomegaly G6pd , Tktl1 spondylocostal dysostosis 5 Aldoa , Aldoart2 stomach cancer Rgn Stomach Neoplasms Aldob , Fbp1 Stroke Aldoc syndromic microphthalmia 5 Pfkp syndromic X-linked intellectual disability Lubs type G6pd , Prps1 , Rgn , Tktl1 Tatton-Brown-Rahman syndrome Rbks teratoma Pgm1 Testicular Injury G6pd Transaldolase Deficiency Taldo1 transient cerebral ischemia G6pd trichorhinophalangeal syndrome type I Rpe type 1 diabetes mellitus G6pd type 2 diabetes mellitus Aldob , G6pd Weight Gain Prps1 Wernicke encephalopathy Tkt X-linked deafness 1 Prps1 X-linked epilepsy with variable learning disabilities and behavior disorders Rgn X-linked severe congenital neutropenia Rgn