
PathWhiz ID | Pathway | Meta Data |
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PW121801 |
disease
Tay-Sachs DiseaseMus 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.
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Creator: Ana Marcu Created On: September 10, 2018 at 15:49 Last Updated: September 10, 2018 at 15:49 |
PW122026 |
disease
Tay-Sachs DiseaseRattus 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.
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Creator: Ana Marcu Created On: September 10, 2018 at 15:51 Last Updated: September 10, 2018 at 15:51 |
PW144906 |
drug action
Tazarotene Drug Metabolism Action PathwayHomo sapiens
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Creator: Ray Kruger Created On: October 07, 2023 at 14:40 Last Updated: October 07, 2023 at 14:40 |
PW146565 |
drug action
Tazemetostat Drug Metabolism Action PathwayHomo sapiens
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Creator: Ray Kruger Created On: October 07, 2023 at 18:31 Last Updated: October 07, 2023 at 18:31 |
PW176555 |
Tazemetostat Predicted Metabolism PathwayHomo sapiens
Metabolites of Tazemetostat are predicted with biotransformer.
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Creator: Omolola Created On: December 14, 2023 at 11:59 Last Updated: December 14, 2023 at 11:59 |
PW145473 |
drug action
Tazobactam Drug Metabolism Action PathwayHomo sapiens
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Creator: Ray Kruger Created On: October 07, 2023 at 15:54 Last Updated: October 07, 2023 at 15:54 |
PW000889 |
TCAArabidopsis thaliana
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Creator: Biswapriya Misra Created On: May 06, 2015 at 11:43 Last Updated: May 06, 2015 at 11:43 |
PW122549 |
tcaAeromonas media WS
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Creator: Guest: Anonymous Created On: July 30, 2019 at 05:29 Last Updated: July 30, 2019 at 05:29 |
PW126438 |
TCAHomo sapiens
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Creator: Guest: Anonymous Created On: December 04, 2021 at 19:00 Last Updated: December 04, 2021 at 19:00 |
PW123644 |
TCAKlebsiella pneumoniae
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Creator: Guest: Anonymous Created On: November 09, 2019 at 13:47 Last Updated: November 09, 2019 at 13:47 |