MCID: DHY007
MIFTS: 34

Dihydropteridine Reductase Deficiency malady

Summaries for Dihydropteridine Reductase Deficiency

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32MalaCards
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MalaCards: Dihydropteridine Reductase Deficiency, also known as hyperphenylalaninemia due to dihydropteridine reductase deficiency, is related to hyperphenylalaninemia and phenylketonuria. An important gene associated with Dihydropteridine Reductase Deficiency is QDPR (quinoid dihydropteridine reductase), and among its related pathways are Metabolism of nitric oxide and Alpha-synuclein signaling. The compounds Biopterin and tetrahydropteridine have been mentioned in the context of this disorder. Related mouse phenotypes are integument and behavior/neurological.

Aliases & Classifications for Dihydropteridine Reductase Deficiency

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42NIH Rare Diseases, 22GTR, 60UMLS
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Aliases & Descriptions:

dihydropteridine reductase deficiency 42 22 60
hyperphenylalaninemia due to dihydropteridine reductase deficiency 42
hyperphenylalaninemia, bh-4-deficient, c 42
phenylketonuria type 2 42
dhpr deficiency 42
qdpr deficiency 42


Related Diseases for Dihydropteridine Reductase Deficiency

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Dihydropteridine Reductase Deficiency:



Diseases related to dihydropteridine reductase deficiency

Clinical Features for Dihydropteridine Reductase Deficiency

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Drugs & Therapeutics for Dihydropteridine Reductase Deficiency

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

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Drug clinical trials:

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Genetic Tests for Dihydropteridine Reductase Deficiency

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22GTR
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Genetic tests related to Dihydropteridine Reductase Deficiency:

id Genetic test Affiliating Genes
1 Dihydropteridine Reductase Deficiency22

Anatomical Context for Dihydropteridine Reductase Deficiency

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Animal Models for Dihydropteridine Reductase Deficiency or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Dihydropteridine Reductase Deficiency:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107717.7SLC6A3, PAH, PTS, TH
2MP:00053867.6SPR, TH, SLC6A3, PAH, PTS
3MP:00036317.5PAH, PTS, SLC6A3, TH, SPR
4MP:00053767.5SLC6A3, TH, PTS, SPR, PAH
5MP:00053787.4SPR, TH, SLC6A3, PAH, PTS

Publications for Dihydropteridine Reductase Deficiency

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Genetic Variations for Dihydropteridine Reductase Deficiency

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Expression for genes affiliated with Dihydropteridine Reductase Deficiency

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Dihydropteridine Reductase Deficiency

Search GEO for disease gene expression data for Dihydropteridine Reductase Deficiency.

Pathways for genes affiliated with Dihydropteridine Reductase Deficiency

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53Reactome, 37NCBI BioSystems Database, 29KEGG, 12EMD Millipore
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Compounds for genes affiliated with Dihydropteridine Reductase Deficiency

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11DrugBank, 44Novoseek, 24HMDB, 28IUPHAR, 49PharmGKB
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Compounds related to Dihydropteridine Reductase Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 69)
idCompoundScoreTop Affiliating Genes
1Biopterin119.9SPR, PTS
2tetrahydropteridine44 2410.8QDPR, TH
3dihydroneopterin triphosphate44 2410.8PTS, SPR
4alpha-methyl-p-tyrosine449.7SLC6A3, TH
5mazindol44 28 1111.7TH, SLC6A3
6nomifensine44 28 1111.7SLC6A3, TH
7ibotenic acid449.7SLC6A3, TH
8octopamine44 2810.6SLC6A3, TH
9d amphetamine449.6TH, SLC6A3
107-biopterin449.6PAH, QDPR
11beta-phenylethylamine449.6SLC6A3, TH
126-biopterin449.6PAH, QDPR
13mdma449.6TH, SLC6A3
14methylphenidate44 49 1111.6SLC6A3, TH
15reserpine44 28 1111.5SLC6A3, TH
16maoa449.5TH, SLC6A3
171 methyl 4 phenylpyridinium449.4SLC6A3, TH
18tetrahydropterin449.4PAH, TH
19hpah449.4TH, PAH
207,8-Dihydrobiopterin119.4PAH, TH
21pramipexole44 49 28 1112.4TH, SLC6A3
224a-hydroxytetrahydrobiopterin44 2410.4TH, PAH
235-hydroxytryptophan449.3QDPR, PTS, TH
24quinpirole44 2810.3SLC6A3, TH
25L-Tyrosine11 2410.3PAH, TH
26L-Phenylalanine11 2410.3TH, PAH
27carbidopa44 2810.2TH, SLC6A3, PTS
28tyramine44 28 2411.2SLC6A3, TH
29dihydrofolate449.2PAH, QDPR, SPR
30neopterin449.1PTS, PAH, QDPR
31amine449.1PTS, PAH, QDPR
32selegiline44 1110.0TH, SLC6A3
336-pyruvoyltetrahydropterin448.9TH, SPR, QDPR, PTS
34pteridine448.9SPR, PTS, TH, QDPR
35tetrahydrobiopterin44 11 2410.6TH, QDPR, SPR, PAH
36dihydrobiopterin44 249.6SPR, TH, QDPR, PAH
37catecholamine448.5PTS, PAH, TH, QDPR
38aspartate448.3PTS, PAH, TH, SLC6A3
39alanine448.2TH, SLC6A3, PAH, QDPR
40dihydropteridine44 249.1SPR, PAH, TH, QDPR, PTS
41sepiapterin44 249.1PAH, QDPR, PTS, SPR, TH
42pterin44 249.1PTS, PAH, QDPR, SPR, TH
43phenylalanine448.1PTS, PAH, TH, QDPR, SPR
44norepinephrine44 11 2410.1SLC6A3, SPR, PAH, TH, QDPR
45gtp44 289.1QDPR, TH, PAH, PTS, SPR
46levodopa44 119.0PTS, SLC6A3, PAH, TH, QDPR
47h2o2448.0SLC6A3, QDPR, TH, PTS, PAH
48cysteine448.0TH, SLC6A3, PTS, PAH
49tyrosine447.9QDPR, TH, PAH, PTS, SPR
50dopamine44 28 11 2410.6SPR, TH, PTS, PAH, SLC6A3, QDPR

GO Terms for genes affiliated with Dihydropteridine Reductase Deficiency

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16Gene Ontology
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Cellular components related to Dihydropteridine Reductase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytosolGO:0058297.6SPR, PTS, PAH, TH, QDPR

Biological processes related to Dihydropteridine Reductase Deficiency according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1nitric oxide metabolic processGO:0462099.6PTS, SPR
2regulation of nitric-oxide synthase activityGO:0509999.6SPR, PTS
3cellular amino acid metabolic processGO:0065209.5QDPR, PTS
4dopamine biosynthetic processGO:0424169.5TH, SLC6A3
5L-phenylalanine catabolic processGO:0065599.4PAH, QDPR
6tetrahydrobiopterin biosynthetic processGO:0067299.4QDPR, SPR, PTS
7cellular response to drugGO:0356909.3QDPR, TH
8response to ethanolGO:0454719.3SLC6A3, TH
9catecholamine biosynthetic processGO:0424239.3PAH, TH
10locomotory behaviorGO:0076269.0TH, SLC6A3
11cellular nitrogen compound metabolic processGO:0346418.8PAH, TH, QDPR
12neurotransmitter biosynthetic processGO:0421368.8PAH, SLC6A3, TH
13small molecule metabolic processGO:0442817.9PAH, SPR, TH, QDPR, PTS

Molecular functions related to Dihydropteridine Reductase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1amino acid bindingGO:0165979.0PAH, TH
2dopamine bindingGO:0352409.0SLC6A3, TH

Products for genes affiliated with Dihydropteridine Reductase Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Dihydropteridine Reductase 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