MCID: 6PY002
MIFTS: 32

6-Pyruvoyl-Tetrahydropterin Synthase Deficiency malady

Genetic diseases, Rare diseases categories
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Summaries for 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

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65Wikipedia, 33MalaCards
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Wikipedia:65 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. Affiliated tissues include brain and testes, and related mouse phenotypes are reproductive system and endocrine/exocrine gland.

Aliases & Classifications for 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

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43NIH Rare Diseases, 20GeneTests, 22GTR
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


Aliases & Descriptions:

6-pyruvoyl-tetrahydropterin synthase deficiency 43 22
hyperphenylalaninemia due to 6-pyruvoyl-tetrahydropterin synthase deficiency 43
6-pyruvoyltetrahydropterin synthase deficiency 20
hyperphenylalanemia, bh4-deficient, a 43
pts deficiency 43


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
3generalized dystonia10.5
4dystonia10.5
5hyperphenylalaninemia10.5
6mild hyperphenylalaninemia10.5
7breast cancer10.0PRL, PTS

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



Diseases related to 6-pyruvoyl-tetrahydropterin synthase deficiency

Symptoms for 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

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Drugs & Therapeutics for 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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Search NIH Clinical Center 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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33MalaCards
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MalaCards organs/tissues related to 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency:

33
Brain, Testes

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

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37MGI
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MGI Mouse Phenotypes related to 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053899.1PRL, PTS
2MP:00053799.0PRL, PTS
3MP:00107718.8PRL, PTS

Publications for 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

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52PubMed
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Articles related to 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency:

(show all 24)
idTitleAuthorsYear
1
Pseudoexon exclusion by antisense therapy in 6-pyruvoyl-tetrahydropterin synthase deficiency. (21542064)
2011
2
WITHDRAWN: Disorders of BH4 metabolism and the treatment of patients with 6-pyruvoyl-tetrahydropterin synthase deficiency in Taiwan. (21696901)
2011
3
Disorders of BH4 metabolism and the treatment of patients with 6-pyruvoyl-tetrahydropterin synthase deficiency in Taiwan. (21880449)
2011
4
Phenotypic variability, neurological outcome and genetics background of 6-pyruvoyl-tetrahydropterin synthase deficiency. (20059486)
2010
5
Maternal tetrahydrobiopterin deficiency: the course of two pregnancies and follow-up of two children in a mother with 6-pyruvoyl-tetrahydropterin synthase deficiency. (19322676)
2009
6
Dopamine agonists in 6-pyruvoyl tetrahydropterin synthase deficiency. (19704083)
2009
7
A case of 6-pyruvoyl-tetrahydropterin synthase deficiency demonstrates a more significant correlation of L-Dopa dosage with serum prolactin levels than CSF homovanillic acid levels. (17590551)
2008
8
Long-term follow-up of Taiwanese Chinese patients treated early for 6-pyruvoyl-tetrahydropterin synthase deficiency. (18332253)
2008
9
Long-term follow-up and adult outcome of 6-pyruvoyl-tetrahydropterin synthase deficiency. (16161143)
2006
10
Long-term follow-up of Chinese patients who received delayed treatment for 6-pyruvoyl-tetrahydropterin synthase deficiency. (16364672)
2006
11
6-pyruvoyl-tetrahydropterin synthase deficiency with mild hyperphenylalaninemia. (15984017)
2005
12
Subtle brain dysfunction in treated 6-pyruvoyl-tetrahydropterin synthase deficiency: relationship to motor tasks and neurophysiological tests. (15036427)
2004
13
6-pyruvoyl tetrahydropterin synthase deficiency: a case report. (15906733)
2003
14
Molecular analysis and long-term follow-up of patients with different forms of 6-pyruvoyl-tetrahydropterin synthase deficiency. (11388593)
2001
15
Diagnosis and treatment of 6-pyruvoyl-tetrahydropterin synthase deficiency. (10984672)
2000
16
Molecular characterization of 6-pyruvoyl-tetrahydropterin synthase deficiency in Japanese patients. (10319579)
1999
17
Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian families. (9222757)
1997
18
6-pyruvoyl-tetrahydropterin synthase deficiency with generalized dystonia and diurnal fluctuation of symptoms: a clinical and molecular study. (9159737)
1997
19
Prenatal diagnosis of 6-pyruvoyl tetrahydropterin synthase deficiency in seven subjects. (8051934)
1994
20
Response of 6-pyruvoyl-tetrahydropterin synthase deficiency to tetrahydrobiopterin. (1588012)
1992
21
A case of 6-pyruvoyl-tetrahydropterin synthase deficiency after screening 1,500,000 newborns in Greece. (1779640)
1991
22
Progression of 6-pyruvoyl-tetrahydropterin synthase deficiency from a peripheral into a central phenotype. (1700190)
1990
23
On-off phenomenon in a child with tetrahydrobiopterin deficiency due to 6-pyruvoyl tetrahydropterin synthase deficiency (BH4 deficiency). (2646129)
1989
24
"Peripheral" tetrahydrobiopterin deficiency with hyperphenylalaninaemia due to incomplete 6-pyruvoyl tetrahydropterin synthase deficiency or heterozygosity. (3297709)
1987

Variations for 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency:

1
id Gene Name Type Significance SNP ID Assembly Location
1PTSNM_000317.2(PTS): c.74G> A (p.Arg25Gln)single nucleotide variantPathogenicrs104894273GRCh37Chr 11, 112097240: 112097240
2PTSNM_000317.2(PTS): c.155A> G (p.Asn52Ser)single nucleotide variantPathogenicrs104894275GRCh37Chr 11, 112099388: 112099388
3PTSNM_000317.2(PTS): c.259C> T (p.Pro87Ser)single nucleotide variantPathogenicrs104894276GRCh37Chr 11, 112103901: 112103901
4PTSNM_000317.2(PTS): c.166G> A (p.Val56Met)single nucleotide variantPathogenicrs104894277GRCh37Chr 11, 112100933: 112100933
5PTSNM_000317.2(PTS): c.286G> A (p.Asp96Asn)single nucleotide variantPathogenicrs104894280GRCh37Chr 11, 112103928: 112103928

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

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2BioGPS, 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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45Novoseek, 29IUPHAR, 11DrugBank, 24HMDB
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Compounds related to 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1carbidopa45 2910.3PRL, PTS
25-hydroxytryptophan459.2PRL, PTS
3levodopa45 1110.2PRL, PTS
4acth459.1PTS, PRL
5arginine459.1PRL, PTS
6dopamine45 29 24 1112.0PRL, PTS
7steroid458.8PRL, PTS

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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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet