BH4-deficient hyperphenylalaninemia A

Summary

DOID:0090106 - BH4-deficient hyperphenylalaninemia A

Disease Ontology 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.

Synonyms: 6-pyruvoyl-tetrahydropterin synthase deficiency, HPABH4A, PTS deficiency, tetrahydobioperin-deficient hyperphenylalaninemia due to PTS deficiency, hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: pts

MIM:

MIM:261640 - hyperphenylalaninemia, bh4-deficient, a; hpabh4a

MIM:261640 - hyperphenylalaninemia, bh4-deficient, a; hpabh4a

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): amino acid metabolic disorder (is_a), autosomal recessive disease (is_a), tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (is_a)