Symbol
Name
ID

Pts
6-pyruvoyl-tetrahydropterin synthase
MGI:1338783

Phenotype annotations related to homeostasis/metabolism

Darker colors indicate more annotations

Human Phenotypes

Maternal hyperphenylalaninemia

Hyperphenylalaninemia

Decreased CSF homovanillic acid concentration

Decreased CSF 5-hydroxyindolacetic acid concentration

Reduced phenylalanine hydroxylase level

Phenylpyruvic acidemia

Recurrent fever

Elevated urinary phenylpyruvic acid level

Increased level of hippuric acid in urine

Phenylalaninuria

Elevated urinary gamma-glutamylphenylalanine level

Cerebral calcification

Disease(s) Associated with PTS

BH4-deficient hyperphenylalaninemia A

phenylketonuria

Mouse Phenotypes		increased salivation	abnormal circulating amino acid level	increased phenylalanine level	abnormal dopamine level	decreased dopamine level	decreased noradrenaline level	abnormal biopterin level	abnormal neopterin level	abnormal serotonin level	decreased serotonin level
Availability	Mouse Genotype	increased salivation	abnormal circulating amino acid level	increased phenylalanine level	abnormal dopamine level	decreased dopamine level	decreased noradrenaline level	abnormal biopterin level	abnormal neopterin level	abnormal serotonin level	decreased serotonin level
	Pts^tm1Ich/Pts^tm1Ich
	Pts^tm1Thny/Pts^tm1Thny

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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