OBO ID: DOID:0090106
Term Name: BH4-deficient hyperphenylalaninemia A Search Ontology:
Synonyms:
  • 6-pyruvoyl-tetrahydropterin synthase deficiency
  • HPABH4A
  • hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency
  • PTS deficiency
  • tetrahydobioperin-deficient hyperphenylalaninemia due to PTS deficiency
Definition: A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits that has_material_basis_in autosomal recessive inheritance of mutation in the gene encoding 6-pyruvoyl-tetrahydropterin synthase (PTS) on chromosome 11q23.1. (2)
References:
Ontology: Human Disease   ( DOID:0090106 )
Relationships
is a type of:
OTHER BH4-deficient hyperphenylalaninemia A PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PTS Hyperphenylalaninemia, BH4-deficient, A 261640
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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