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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:BH4-deficient hyperphenylalaninemia A
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Accession:DOID:0090106 term browser browse the term
Definition:An amino acid metabolic disorder 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. (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;   NCI:C138171;   ORDO:13
For additional species annotation, visit the Alliance of Genome Resources.


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BH4-deficient hyperphenylalaninemia A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gch1 GTP cyclohydrolase 1 ISO ClinVar Annotator: match by term: 6-pyruvoyl-tetrahydropterin synthase deficiency ClinVar PMID:25741868 NCBI chr15:23,935,011...23,968,971
Ensembl chr15:23,934,585...23,969,011
JBrowse link
G Pah phenylalanine hydroxylase ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:8268925, PMID:9429153, PMID:11708866, PMID:16051511, PMID:16198137, PMID:17935162, PMID:21953985, PMID:23500595, PMID:23842451, PMID:28492532 NCBI chr 7:28,066,639...28,129,772
Ensembl chr 7:28,066,635...28,129,769
JBrowse link
G Pts 6-pyruvoyl-tetrahydropterin synthase ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A
ClinVar Annotator: match by term: 6-pyruvoyl-tetrahydropterin synthase deficiency
ClinVar Annotator: match by OMIM:261640
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:3297709, PMID:7493990, PMID:7563095, PMID:7698774, PMID:8178819, PMID:8707300, PMID:9159737, PMID:9222757, PMID:9450907, PMID:10089284, PMID:10220141, PMID:10319579, PMID:10585341, PMID:10874306, PMID:11388593, PMID:11438997, PMID:11694255, PMID:11916314, PMID:16850690, PMID:16917893, PMID:17001642, PMID:17160954, PMID:18505119, PMID:19280650, PMID:19350512, PMID:20059486, PMID:21933604, PMID:22237589, PMID:23138986, PMID:23942198, PMID:25304915, PMID:25418970, PMID:25456745, PMID:25525159, PMID:25741868, PMID:25758715, PMID:26830550, PMID:27243974, PMID:27246466, PMID:28378820, PMID:28492532, PMID:28915855, PMID:29499199 NCBI chr 8:54,954,261...54,961,271
Ensembl chr 8:54,954,226...54,961,265
JBrowse link
G Tex12 testis expressed 12 ISO ClinVar Annotator: match by term: 6-pyruvoyl-tetrahydropterin synthase deficiency ClinVar PMID:7563095, PMID:20059486 NCBI chr 8:54,991,501...54,999,454
Ensembl chr 8:54,992,841...54,994,871
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        inherited metabolic disorder 2237
          amino acid metabolic disorder 433
            BH4-deficient hyperphenylalaninemia A 4
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          brain disease 8370
            Metabolic Brain Diseases 576
              Metabolic Brain Diseases, Inborn 505
                phenylketonuria 14
                  BH4-deficient hyperphenylalaninemia A 4
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.