ONTOLOGY REPORT - ANNOTATIONS


Term:BH4-deficient hyperphenylalaninemia A
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Accession:DOID:0090106 term browser browse the term
Definition:An amino acid metabolic disorder characterized by autosomal recessive inheritance of hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits that has material_basis_in mutation in the PTS gene on chromosome 11q23.1. (DO)
Synonyms:exact_synonym: 6-pyruvoyl-tetrahydropterin synthase deficiency;   HPABH4A;   Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency;   Hyperphenylalaninemia, BH4-Deficient, Type A;   Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To PTS Deficiency;   PTS Deficiency;   tetrahydobioperin-deficient hyperphenylalaninemia due to PTS deficiency
 narrow_synonym: PTS DEFICIENCY HYPERPHENYLALANINEMIA, BH4-DEFICIENT, DUE TO PARTIAL PTS DEFICIENCY
 primary_id: MESH:C535325;   RDO:0000377
 alt_id: OMIM:261640
 xref: GARD:5682;   ORDO:13
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BH4-deficient hyperphenylalaninemia A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gch1 GTP cyclohydrolase 1 JBrowse link 15 23,935,011 23,968,971 RGD:8554872
G Pts 6-pyruvoyl-tetrahydropterin synthase JBrowse link 8 54,954,261 54,961,271 RGD:7240710
RGD:8554872

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  disease 14875
    Nutritional and Metabolic Diseases 4249
      disease of metabolism 4249
        inherited metabolic disorder 1808
          amino acid metabolic disorder 337
            BH4-deficient hyperphenylalaninemia A 2
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  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        central nervous system disease 6913
          brain disease 6418
            Metabolic Brain Diseases 441
              Metabolic Brain Diseases, Inborn 385
                phenylketonuria 13
                  BH4-deficient hyperphenylalaninemia A 2
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