PathWhiz

PathWhiz ID	Pathway	Meta Data
PW127282 View Pathway	disease Tay-Sachs Disease Homo sapiens Tay-Sachs Disease (TSD; GM2-Gangliosidosis, type I; B-Variant GM2-Gangliosidosis; Hexosaminidase A Deficiency; HEXA Deficiency; Tay-Sachs Disease Variant B1), is an autosomal recessive lysosomal storage disease. TSD is caused by a mutation in the alpha subunit of the hexosaminidase A gene (HEXA), which codes for the enzyme hexosaminidase A. HEXA degrades GM2 gangliosides and other molecules with terminal N-acetyl hexosamines in the brain and other tissues. A defect in this enzyme causes accumulation of oligosaccharides in urine. The most lethal variant of this disease is the classical infantile Tay-Sachs disease, in which children exhibit developmental retardation, dementia and blindness, finally ending in death by the second or third years. Tay-Sachs disease also has debilitating juvenile and adult forms. The majority of cases of TSD are found among (but not limited to) the Ashkenazi Jews and French Canadians in Eastern Quebec. Symptoms include ataxia, visual impairment and loss, cherry-red spot on retinal macula, dystosis multiplex, mental retardation, myoclonus, encephalopathy and psychosis. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Ray Kruger Created On: November 29, 2022 at 10:49 Last Updated: November 29, 2022 at 10:49
PW000215 View Pathway	disease Tay-Sachs Disease Homo sapiens Tay-Sachs Disease (TSD; GM2-Gangliosidosis, type I; B-Variant GM2-Gangliosidosis; Hexosaminidase A Deficiency; HEXA Deficiency; Tay-Sachs Disease Variant B1), is an autosomal recessive lysosomal storage disease. TSD is caused by a mutation in the alpha subunit of the hexosaminidase A gene (HEXA), which codes for the enzyme hexosaminidase A. HEXA degrades GM2 gangliosides and other molecules with terminal N-acetyl hexosamines in the brain and other tissues. A defect in this enzyme causes accumulation of oligosaccharides in urine. The most lethal variant of this disease is the classical infantile Tay-Sachs disease, in which children exhibit developmental retardation, dementia and blindness, finally ending in death by the second or third years. Tay-Sachs disease also has debilitating juvenile and adult forms. The majority of cases of TSD are found among (but not limited to) the Ashkenazi Jews and French Canadians in Eastern Quebec. Symptoms include ataxia, visual impairment and loss, cherry-red spot on retinal macula, dystosis multiplex, mental retardation, myoclonus, encephalopathy and psychosis. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: WishartLab Created On: August 20, 2013 at 13:58 Last Updated: August 20, 2013 at 13:58
PW121801 View Pathway	disease Tay-Sachs Disease Mus musculus Tay-Sachs Disease (TSD; GM2-Gangliosidosis, type I; B-Variant GM2-Gangliosidosis; Hexosaminidase A Deficiency; HEXA Deficiency; Tay-Sachs Disease Variant B1), is an autosomal recessive lysosomal storage disease. TSD is caused by a mutation in the alpha subunit of the hexosaminidase A gene (HEXA), which codes for the enzyme hexosaminidase A. HEXA degrades GM2 gangliosides and other molecules with terminal N-acetyl hexosamines in the brain and other tissues. A defect in this enzyme causes accumulation of oligosaccharides in urine. The most lethal variant of this disease is the classical infantile Tay-Sachs disease, in which children exhibit developmental retardation, dementia and blindness, finally ending in death by the second or third years. Tay-Sachs disease also has debilitating juvenile and adult forms. The majority of cases of TSD are found among (but not limited to) the Ashkenazi Jews and French Canadians in Eastern Quebec. Symptoms include ataxia, visual impairment and loss, cherry-red spot on retinal macula, dystosis multiplex, mental retardation, myoclonus, encephalopathy and psychosis. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Ana Marcu Created On: September 10, 2018 at 15:49 Last Updated: September 10, 2018 at 15:49
PW122026 View Pathway	disease Tay-Sachs Disease Rattus norvegicus Tay-Sachs Disease (TSD; GM2-Gangliosidosis, type I; B-Variant GM2-Gangliosidosis; Hexosaminidase A Deficiency; HEXA Deficiency; Tay-Sachs Disease Variant B1), is an autosomal recessive lysosomal storage disease. TSD is caused by a mutation in the alpha subunit of the hexosaminidase A gene (HEXA), which codes for the enzyme hexosaminidase A. HEXA degrades GM2 gangliosides and other molecules with terminal N-acetyl hexosamines in the brain and other tissues. A defect in this enzyme causes accumulation of oligosaccharides in urine. The most lethal variant of this disease is the classical infantile Tay-Sachs disease, in which children exhibit developmental retardation, dementia and blindness, finally ending in death by the second or third years. Tay-Sachs disease also has debilitating juvenile and adult forms. The majority of cases of TSD are found among (but not limited to) the Ashkenazi Jews and French Canadians in Eastern Quebec. Symptoms include ataxia, visual impairment and loss, cherry-red spot on retinal macula, dystosis multiplex, mental retardation, myoclonus, encephalopathy and psychosis. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Ana Marcu Created On: September 10, 2018 at 15:51 Last Updated: September 10, 2018 at 15:51
PW144906 View Pathway	drug action Tazarotene Drug Metabolism Action Pathway Homo sapiens BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Ray Kruger Created On: October 07, 2023 at 14:40 Last Updated: October 07, 2023 at 14:40
PW146565 View Pathway	drug action Tazemetostat Drug Metabolism Action Pathway Homo sapiens BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Ray Kruger Created On: October 07, 2023 at 18:31 Last Updated: October 07, 2023 at 18:31
PW176555 View Pathway	metabolic Tazemetostat Predicted Metabolism Pathway Homo sapiens Metabolites of Tazemetostat are predicted with biotransformer. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Omolola Created On: December 14, 2023 at 11:59 Last Updated: December 14, 2023 at 11:59
PW145473 View Pathway	drug action Tazobactam Drug Metabolism Action Pathway Homo sapiens BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Ray Kruger Created On: October 07, 2023 at 15:54 Last Updated: October 07, 2023 at 15:54
PW000889 View Pathway	metabolic TCA Arabidopsis thaliana BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Biswapriya Misra Created On: May 06, 2015 at 11:43 Last Updated: May 06, 2015 at 11:43
PW122549 View Pathway	metabolic tca Aeromonas media WS BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Guest: Anonymous Created On: July 30, 2019 at 05:29 Last Updated: July 30, 2019 at 05:29