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Pathways

PathWhiz ID Pathway Meta Data

PW146472

Pw146472 View Pathway
drug action

Selinexor Drug Metabolism Action Pathway

Homo sapiens

PW146936

Pw146936 View Pathway
drug action

Selpercatinib Drug Metabolism Action Pathway

Homo sapiens

PW146426

Pw146426 View Pathway
drug action

Selumetinib Drug Metabolism Action Pathway

Homo sapiens

PW146701

Pw146701 View Pathway
drug action

Semaglutide Drug Metabolism Action Pathway

Homo sapiens

PW121812

Pw121812 View Pathway
disease

Sepiapterin Reductase Deficiency

Mus 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.

PW000467

Pw000467 View Pathway
disease

Sepiapterin Reductase Deficiency

Homo 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.

PW122037

Pw122037 View Pathway
disease

Sepiapterin Reductase Deficiency

Rattus 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.

PW127152

Pw127152 View Pathway
disease

Sepiapterin Reductase Deficiency

Homo 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.

PW126583

Pw126583 View Pathway
metabolic

Sepsis (Septic response) - Immunometabolism

Homo sapiens

PW127020

Pw127020 View Pathway
disease

Sepsis LysoPC Pathway

Homo sapiens