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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 chr 8:60,013,429...60,085,159
Ensembl chr 8:60,009,618...60,085,054 		JBrowse link
G Bco2 beta-carotene oxygenase 2 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 8:59,778,571...59,803,597
Ensembl chr 8:59,778,575...59,799,168 		JBrowse link
G Btg4 BTG anti-proliferation factor 4 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 8:60,307,090...60,322,167
Ensembl chr 8:60,317,121...60,322,167 		JBrowse link
G C8h11orf52 similar to human chromosome 11 open reading frame 52 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 8:59,977,717...59,984,706
Ensembl chr 8:59,976,623...59,990,901 		JBrowse link
G Cfap68 cilia and flagella associated protein 68 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 8:60,004,034...60,009,782
Ensembl chr 8:60,004,034...60,009,667 		JBrowse link
G Cryab crystallin, alpha B ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 8:59,989,885...59,995,532
Ensembl chr 8:59,989,814...59,995,528 		JBrowse link
G Dixdc1 DIX domain containing 1 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 8:59,904,218...59,977,595
Ensembl chr 8:59,904,218...59,978,447 		JBrowse link
G Dlat dihydrolipoamide S-acetyltransferase ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 8:59,875,537...59,900,947
Ensembl chr 8:59,868,214...59,900,818
Ensembl chr 1:59,868,214...59,900,818 		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 chr 8:60,009,818...60,014,625 JBrowse link
G Gch1 GTP cyclohydrolase 1 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:25741868 PMID:28492532 PMID:37256495 NCBI chr15:22,884,006...22,917,412
Ensembl chr15:22,884,006...22,917,412 		JBrowse link
G Hoatz HOATZ cilia and flagella associated protein ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 8:60,284,745...60,306,687
Ensembl chr 8:60,283,904...60,305,377 		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 chr 8:59,989,640...59,991,215
Ensembl chr 8:59,976,623...59,990,901 		JBrowse link
G Il18 interleukin 18 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 8:59,802,072...59,829,275
Ensembl chr 8:59,809,592...59,831,286 		JBrowse link
G Layn layilin ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 8:60,261,325...60,280,797
Ensembl chr 8:60,263,456...60,281,418 		JBrowse link
G Mir34b microRNA 34b ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 8:60,306,609...60,306,692 JBrowse link
G Mir34c microRNA 34c ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 8:60,306,091...60,306,167 JBrowse link
G Nkapd1 NKAP domain containing 1 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 8:59,852,037...59,863,295
Ensembl chr 8:59,852,726...59,863,181 		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:1301187 PMID:1301200 PMID:7707686 PMID:7833954 PMID:7981714 More... NCBI chr 7:23,793,096...23,885,631
Ensembl chr 7:23,792,781...23,885,627 		JBrowse link
G Pih1d2 PIH1 domain containing 2 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 8:59,863,271...59,871,465
Ensembl chr 8:59,862,899...59,887,927 		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 chr 8:60,418,173...60,445,176
Ensembl chr 8:60,436,844...60,445,176 		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 chr 8:60,484,596...60,493,475
Ensembl chr 8:60,484,596...60,493,821 		JBrowse link
G Ppp2r1b protein phosphatase 2 scaffold subunit A beta ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 8:60,092,540...60,125,512
Ensembl chr 8:60,081,553...60,125,795 		JBrowse link
G Pts 6-pyruvoyl-tetrahydropterin synthase ISO
ISS 		CTD Direct Evidence: marker/mechanism
OMIM:261640
ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A | ClinVar Annotator: match by term: PTS Deficiency 		OMIM
CTD
MouseDO
ClinVar		 PMID:3297709 PMID:7493990 PMID:7563095 PMID:7698774 PMID:8178819 More... NCBI chr 8:59,767,234...59,774,265
Ensembl chr 8:59,765,185...59,774,265 		JBrowse link
G Qdpr quinoid dihydropteridine reductase ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:25741868 NCBI chr14:69,882,776...69,896,378
Ensembl chr14:69,882,612...69,896,379 		JBrowse link
G Sdhd succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 8:59,841,090...59,850,641
Ensembl chr 8:59,841,090...59,850,641 		JBrowse link
G Sik2 salt-inducible kinase 2 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 8:60,121,913...60,221,707
Ensembl chr 8:60,121,913...60,221,818 		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 chr 8:50,908,161...50,913,202
Ensembl chr 8:59,804,662...59,813,423 		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 chr 8:59,850,737...59,852,117
Ensembl chr 8:59,850,728...59,852,962 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Nutritional and Metabolic Diseases 8574
      disease of metabolism 8574
        inherited metabolic disorder 6673
          amino acid metabolic disorder 1595
            phenylketonuria 43
              BH4-deficient hyperphenylalaninemia A 28
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        central nervous system disease 12646
          brain disease 11866
            Metabolic Brain Diseases 1519
              Metabolic Brain Diseases, Inborn 1388
                phenylketonuria 43
                  BH4-deficient hyperphenylalaninemia A 28
paths to the root