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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: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. (DO)
Synonyms:exact_synonym: 6-pyruvoyl-tetrahydropterin synthase deficiency;   HPABH4A;   Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency;   Hyperphenylalaninemia, BH4-Deficient, Type A;   PTS Deficiency;   tetrahydobioperin-deficient hyperphenylalaninemia due to PTS deficiency;   tetrahydrobiopterin-deficient hyperphenylalaninemia, due to PTS deficiency
 narrow_synonym: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, DUE TO PARTIAL PTS DEFICIENCY
 primary_id: MESH:C535325
 alt_id: MIM:261640
 xref: GARD:5682;   NCI:C138171;   ORDO:13

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BH4-deficient hyperphenylalaninemia A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg9 ALG9 alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chrNW_004955412:13,510,714...13,599,216
Ensembl chrNW_004955412:13,514,342...13,598,909 		JBrowse link
G Bco2 beta-carotene oxygenase 2 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chrNW_004955412:13,838,260...13,872,886
Ensembl chrNW_004955412:13,837,782...13,872,886 		JBrowse link
G Btg4 BTG anti-proliferation factor 4 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chrNW_004955412:13,137,273...13,250,261
Ensembl chrNW_004955412:13,183,524...13,247,882 		JBrowse link
G Cfap68 cilia and flagella associated protein 68 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chrNW_004955412:13,605,526...13,609,865
Ensembl chrNW_004955412:13,605,819...13,612,070 		JBrowse link
G Cryab crystallin alpha B ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chrNW_004955412:13,626,018...13,629,495
Ensembl chrNW_004955412:13,625,363...13,640,426 		JBrowse link
G CUNH11orf52 chromosome unknown C11orf52 homolog ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chrNW_004955412:13,635,088...13,640,604
Ensembl chrNW_004955412:13,634,794...13,640,962 		JBrowse link
G Dixdc1 DIX domain containing 1 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chrNW_004955412:13,640,693...13,713,926
Ensembl chrNW_004955412:13,642,078...13,711,850 		JBrowse link
G Dlat dihydrolipoamide S-acetyltransferase ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chrNW_004955412:13,718,091...13,746,220
Ensembl chrNW_004955412:13,718,067...13,744,239 		JBrowse link
G Fdxacb1 ferredoxin-fold anticodon binding domain containing 1 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chrNW_004955412:13,601,032...13,605,418
Ensembl chrNW_004955412:13,598,231...13,605,395 		JBrowse link
G Gch1 GTP cyclohydrolase 1 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:25741868 NCBI chrNW_004955409:8,624,225...8,670,436
Ensembl chrNW_004955409:8,624,468...8,668,614 		JBrowse link
G Hoatz HOATZ cilia and flagella associated protein ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chrNW_004955412:13,254,671...13,275,832
Ensembl chrNW_004955412:13,258,703...13,275,876 		JBrowse link
G Hspb2 heat shock protein family B (small) member 2 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chrNW_004955412:13,628,098...13,631,575
Ensembl chrNW_004955412:13,628,098...13,631,727 		JBrowse link
G Il18 interleukin 18 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chrNW_004955412:13,807,361...13,826,007
Ensembl chrNW_004955412:13,806,553...13,825,634 		JBrowse link
G Layn layilin ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chrNW_004955412:13,282,871...13,298,214
Ensembl chrNW_004955412:13,280,327...13,297,833 		JBrowse link
G Nkapd1 NKAP domain containing 1 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chrNW_004955412:13,755,704...13,765,047
Ensembl chrNW_004955412:13,755,817...13,765,047 		JBrowse link
G Pah phenylalanine hydroxylase ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A | ClinVar Annotator: match by term: PTS Deficiency ClinVar PMID:1301200 PMID:7833954 PMID:7981714 PMID:8088845 PMID:8268925 More... NCBI chrNW_004955405:37,848,486...37,909,163
Ensembl chrNW_004955405:37,846,354...37,909,457 		JBrowse link
G Pih1d2 PIH1 domain containing 2 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chrNW_004955412:13,748,120...13,755,498
Ensembl chrNW_004955412:13,748,325...13,754,130 		JBrowse link
G Pou2af1 POU class 2 homeobox associating factor 1 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chrNW_004955412:13,131,229...13,167,150
Ensembl chrNW_004955412:13,131,168...13,156,128 		JBrowse link
G Pou2af3 POU class 2 homeobox associating factor 3 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chrNW_004955412:13,090,206...13,098,642
Ensembl chrNW_004955412:13,090,206...13,098,826 		JBrowse link
G Ppp2r1b protein phosphatase 2 scaffold subunit Abeta ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chrNW_004955412:13,458,078...13,494,583
Ensembl chrNW_004955412:13,458,136...13,494,585 		JBrowse link
G Pts 6-pyruvoyltetrahydropterin synthase ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A | ClinVar Annotator: match by term: PTS Deficiency OMIM
ClinVar		 PMID:3297709 PMID:7493990 PMID:7563095 PMID:7698774 PMID:8178819 More... NCBI chrNW_004955412:13,880,937...13,888,562
Ensembl chrNW_004955412:13,880,937...13,888,562 		JBrowse link
G Qdpr quinoid dihydropteridine reductase ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:25741868 NCBI chrNW_004955480:6,646,088...6,666,866
Ensembl chrNW_004955480:6,646,088...6,669,526 		JBrowse link
G Sdhd succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chrNW_004955412:13,768,501...13,778,944
Ensembl chrNW_004955412:13,768,501...13,778,932 		JBrowse link
G Sik2 salt inducible kinase 2 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chrNW_004955412:13,342,032...13,458,076
Ensembl chrNW_004955412:13,342,032...13,457,563 		JBrowse link
G Tex12 testis expressed 12 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:7563095 PMID:19830588 PMID:20059486 PMID:25741868 PMID:28492532 More... NCBI chrNW_004955412:13,829,637...13,834,481
Ensembl chrNW_004955412:13,831,353...13,834,481 		JBrowse link
G Timm8b translocase of inner mitochondrial membrane 8 homolog B ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chrNW_004955412:13,766,532...13,768,453
Ensembl chrNW_004955412:13,766,532...13,768,453 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14336
    Nutritional and Metabolic Diseases 6989
      disease of metabolism 6989
        inherited metabolic disorder 5528
          amino acid metabolic disorder 1482
            phenylketonuria 41
              BH4-deficient hyperphenylalaninemia A 26
Path 2
Term Annotations click to browse term
  disease 14336
    disease of anatomical entity 14029
      nervous system disease 12348
        central nervous system disease 11070
          brain disease 10386
            Metabolic Brain Diseases 1390
              Metabolic Brain Diseases, Inborn 1271
                phenylketonuria 41
                  BH4-deficient hyperphenylalaninemia A 26
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