MCID: 6PY002
MIFTS: 19

6-Pyruvoyl-Tetrahydropterin Synthase Deficiency malady

Summaries for 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

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63Wikipedia, 32MalaCards
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Wikipedia:63 6-Pyruvoyltetrahydropterin synthase deficiency is an autosomal recessive disorder that causes malignant... more...

MalaCards: 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency, also known as hyperphenylalaninemia due to 6-pyruvoyl-tetrahydropterin synthase deficiency, is related to tetrahydrobiopterin deficiency and hyperphenylalaninemia, bh4-deficient, a. An important gene associated with 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency is PTS (6-pyruvoyltetrahydropterin synthase). The compounds carbidopa and 5-hydroxytryptophan have been mentioned in the context of this disorder.

Aliases & Classifications for 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

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42NIH Rare Diseases, 20GeneTests, 22GTR
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Aliases & Descriptions:

6-pyruvoyl-tetrahydropterin synthase deficiency 42 22
hyperphenylalaninemia due to 6-pyruvoyl-tetrahydropterin synthase deficiency 42
6-pyruvoyltetrahydropterin synthase deficiency 20
hyperphenylalanemia, bh4-deficient, a 42
pts deficiency 42


Related Diseases for 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

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17GeneCards, 18GeneDecks
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Diseases related to 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1tetrahydrobiopterin deficiency10.7
2hyperphenylalaninemia, bh4-deficient, a10.6
3hyperphenylalaninemia10.4
4insulin resistance10.0PTS
5atherosclerosis10.0PTS
6mental retardation10.0PTS
7diabetes mellitus10.0PTS

Graphical network of diseases related to 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency:



Diseases related to 6-pyruvoyl-tetrahydropterin synthase deficiency

Clinical Features for 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

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Drugs & Therapeutics for 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

Search CenterWatch for 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

Genetic Tests for 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

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20GeneTests, 22GTR
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Genetic tests related to 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency:

id Genetic test Affiliating Genes
1 6-Pyruvoyltetrahydropterin Synthase Deficiency20 PTS
2 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency22

Anatomical Context for 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

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Animal Models for 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency or affiliated genes

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Publications for 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

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Genetic Variations for 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

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Expression for genes affiliated with 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

Search GEO for disease gene expression data for 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency.

Pathways for genes affiliated with 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

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Compounds for genes affiliated with 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

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Sources:
44Novoseek, 28IUPHAR, 11DrugBank, 24HMDB
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Compounds related to 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1carbidopa44 2810.3PTS, PRL
25-hydroxytryptophan449.2PRL, PTS
3levodopa44 1110.2PRL, PTS
4acth449.1PTS, PRL
5arginine449.1PTS, PRL
6dopamine44 28 11 2412.0PTS, PRL
7steroid448.8PTS, PRL

GO Terms for genes affiliated with 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

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Products for genes affiliated with 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet