PathWhiz ID | Pathway | Meta Data |
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PW146472View Pathway |
drug action
Selinexor Drug Metabolism Action PathwayHomo sapiens
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Creator: Ray Kruger Created On: October 07, 2023 at 18:17 Last Updated: October 07, 2023 at 18:17 |
PW146936View Pathway |
drug action
Selpercatinib Drug Metabolism Action PathwayHomo sapiens
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Creator: Ray Kruger Created On: October 07, 2023 at 19:23 Last Updated: October 07, 2023 at 19:23 |
PW146426View Pathway |
drug action
Selumetinib Drug Metabolism Action PathwayHomo sapiens
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Creator: Ray Kruger Created On: October 07, 2023 at 18:10 Last Updated: October 07, 2023 at 18:10 |
PW146701View Pathway |
drug action
Semaglutide Drug Metabolism Action PathwayHomo sapiens
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Creator: Ray Kruger Created On: October 07, 2023 at 18:50 Last Updated: October 07, 2023 at 18:50 |
PW121812View Pathway |
disease
Sepiapterin Reductase DeficiencyMus musculus
Sepiapterin reductase deficiency results from a metabolic disorder; namely, the underproduction of Sepiapterin. The cause of this underproduction is an autosomal recessive genetic mutation in the SPR gene. This gene is responsible for Sepiapterin production, and naturally, when the gene malfunctions the production of this metabolite is altered leading to a range of effects on the body. In this case, some symptoms of Sepiapterin Deficiency are: motor and speech delay, axial hypotonia, dystonia, weakenss microcephaly, dysarthria, autonomic dysfunction, oculogyric crises, drowsiness, among others.
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Creator: Ana Marcu Created On: September 10, 2018 at 15:49 Last Updated: September 10, 2018 at 15:49 |
PW000467View Pathway |
disease
Sepiapterin Reductase DeficiencyHomo sapiens
Sepiapterin reductase deficiency results from a metabolic disorder; namely, the underproduction of Sepiapterin. The cause of this underproduction is an autosomal recessive genetic mutation in the SPR gene. This gene is responsible for Sepiapterin production, and naturally, when the gene malfunctions the production of this metabolite is altered leading to a range of effects on the body. In this case, some symptoms of Sepiapterin Deficiency are: motor and speech delay, axial hypotonia, dystonia, weakenss microcephaly, dysarthria, autonomic dysfunction, oculogyric crises, drowsiness, among others.
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Creator: WishartLab Created On: August 29, 2013 at 08:33 Last Updated: August 29, 2013 at 08:33 |
PW122037View Pathway |
disease
Sepiapterin Reductase DeficiencyRattus norvegicus
Sepiapterin reductase deficiency results from a metabolic disorder; namely, the underproduction of Sepiapterin. The cause of this underproduction is an autosomal recessive genetic mutation in the SPR gene. This gene is responsible for Sepiapterin production, and naturally, when the gene malfunctions the production of this metabolite is altered leading to a range of effects on the body. In this case, some symptoms of Sepiapterin Deficiency are: motor and speech delay, axial hypotonia, dystonia, weakenss microcephaly, dysarthria, autonomic dysfunction, oculogyric crises, drowsiness, among others.
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Creator: Ana Marcu Created On: September 10, 2018 at 15:51 Last Updated: September 10, 2018 at 15:51 |
PW127152View Pathway |
disease
Sepiapterin Reductase DeficiencyHomo sapiens
Sepiapterin reductase deficiency is a genetic disorder that is characterized by abnormal levels of neurotransmitters and pterins. It is caused an autosomal recessive genetic mutation in the SPR gene which leads to the underproduction of the enzyme sepiapterin reductase. Sepiapterin reductase is an enzyme required in multiple steps of the synthesis of tetrahydrobiopterin which is needed in the synthesis of the neurotransmitters dopamine and serotonin. The deficiency of sepiapterin reductase also causes an accumulation of sepiapterin. Symptoms of sepiapterin reductase deficiency include Motor and speech delay, axial hypotonia, dystonia, weakenss microcephaly, dysarthria, autonomic dysfunction, oculogyric crises, and drowsiness. Parkinsonian signs (tremor, bradykinesia, masked facies, rigidity), limb hypertonia, hyperreflexia, intellectual disability, psychiatric and/or behavioral abnormalities, autonomic dysfunction, and sleep disturbances are also common features of Sepiapterin reductase deficiency.
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Creator: Ray Kruger Created On: October 26, 2022 at 11:40 Last Updated: October 26, 2022 at 11:40 |
PW126583View Pathway |
Sepsis (Septic response) - ImmunometabolismHomo sapiens
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Creator: Nitya Khetarpal Created On: January 17, 2022 at 12:51 Last Updated: January 17, 2022 at 12:51 |
PW127020View Pathway |
disease
Sepsis LysoPC PathwayHomo sapiens
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Creator: Ray Kruger Created On: June 28, 2022 at 13:42 Last Updated: June 28, 2022 at 13:42 |