MCID: DHY007
MIFTS: 46

Dihydropteridine Reductase Deficiency malady

Rare diseases category

Summaries for Dihydropteridine Reductase Deficiency

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34MalaCards
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MalaCards: Dihydropteridine Reductase Deficiency, also known as hyperphenylalaninemia due to dihydropteridine reductase deficiency, is related to phenylketonuria and hyperphenylalaninemia. An important gene associated with Dihydropteridine Reductase Deficiency is QDPR (quinoid dihydropteridine reductase), and among its related pathways are Metabolism of nitric oxide and phenylalanine degradation I. The compounds Dyspropterin and 7-biopterin have been mentioned in the context of this disorder. Affiliated tissues include brain and testes, and related mouse phenotypes are integument and behavior/neurological.

Aliases & Classifications for Dihydropteridine Reductase Deficiency

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44NIH Rare Diseases, 23GTR, 63UMLS
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Classifications:

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


Aliases & Descriptions:

dihydropteridine reductase deficiency 44 23 63
hyperphenylalaninemia due to dihydropteridine reductase deficiency 44
quinoid dihydropteridine reductase deficiency 44
hyperphenylalaninemia, bh-4-deficient, c 44
phenylketonuria type 2 44
qdpr deficiency 44
dhpr deficiency 44


Related Diseases for Dihydropteridine Reductase Deficiency

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18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Dihydropteridine Reductase Deficiency:



Diseases related to dihydropteridine reductase deficiency

Symptoms for Dihydropteridine Reductase Deficiency

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Drugs & Therapeutics for Dihydropteridine Reductase Deficiency

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Dihydropteridine Reductase Deficiency

Drug clinical trials:

Search ClinicalTrials for Dihydropteridine Reductase Deficiency

Search NIH Clinical Center for Dihydropteridine Reductase Deficiency

Search CenterWatch for Dihydropteridine Reductase Deficiency

Genetic Tests for Dihydropteridine Reductase Deficiency

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23GTR
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Genetic tests related to Dihydropteridine Reductase Deficiency:

id Genetic test Affiliating Genes
1 Dihydropteridine Reductase Deficiency23

Anatomical Context for Dihydropteridine Reductase Deficiency

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34MalaCards
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MalaCards organs/tissues related to Dihydropteridine Reductase Deficiency:

34
Brain, Testes

Animal Models for Dihydropteridine Reductase Deficiency or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Dihydropteridine Reductase Deficiency:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.0SLC6A3, PAH, PTS, TH
2MP:00053867.6SLC6A3, PAH, PTS, TH, SPR
3MP:00036317.5SPR, TH, PTS, PAH, SLC6A3
4MP:00053787.4SPR, TH, PTS, PAH, SLC6A3
5MP:00053767.2SPR, TH, PTS, PAH, SLC6A3

Publications for Dihydropteridine Reductase Deficiency

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53PubMed
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Articles related to Dihydropteridine Reductase Deficiency:

(show top 50)    (show all 59)
idTitleAuthorsYear
1
Dihydropteridine reductase deficiency and treatment with tetrahydrobiopterin: a case report. (23430801)
2013
2
Dopamine agonists in dihydropteridine reductase deficiency. (22325981)
2012
3
Diagnosis, treatment and gene mutation analysis of the first case with dihydropteridine reductase deficiency in the mainland of China]. (19099731)
2008
4
Dihydropteridine reductase deficiency in man: from biology to treatment. (14705166)
2004
5
Evaluation of a fetus at risk for dihydropteridine reductase deficiency by direct mutation analysis using denaturing gradient gel electrophoresis. (11746132)
2001
6
Clinical and EEG video-polygraphic features of epileptic spasms in a child with dihydropteridine reductase deficiency. Efficiency of hydrocortisone. (11174152)
2000
7
Genotype-phenotype correlation in dihydropteridine reductase deficiency. (10896287)
2000
8
Treatment of phenylketonuria due to dihydropteridine reductase deficiency]. (11062962)
2000
9
Variant of dihydropteridine reductase deficiency without hyperphenylalaninaemia: effect of oral phenylalanine loading. (10384371)
1999
10
Juvenile form of dihydropteridine reductase deficiency in 2 Tunisian patients. (10029353)
1998
11
Dihydropteridine reductase deficiency in a large consanguineous Tunisian family: clinical, biochemical, and neuropathologic findings. (9796752)
1998
12
Dihydropteridine reductase deficiency localized to the central nervous system. (9700606)
1998
13
Dihydropteridine reductase deficiency: physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlations. (9744478)
1998
14
Molecular analysis of dihydropteridine reductase deficiency: identification of two novel mutations in Japanese patients. (9341885)
1997
15
Electromyographic alterations in hyperphenylalaninemia due to dihydropteridine reductase deficiency. (9075022)
1997
16
Monoaminergic effects of folinic acid, L-DOPA, and 5-hydroxytryptophan in dihydropteridine reductase deficiency. (7760062)
1995
17
Molecular basis of dihydropteridine reductase deficiency. (7627180)
1995
18
Catalytic activity of tetrahydrobiopterin in dihydropteridine reductase deficiency and indications for treatment. (8433887)
1993
19
Tetrahydrobiopterin and quinonoid dihydrobiopterin concentrations in CSF from patients with dihydropteridine reductase deficiency. (7609464)
1993
20
The spectrum of mutations in dihydropteridine reductase deficiency. (8304097)
1993
21
Atypical (mild) forms of dihydropteridine reductase deficiency: neurochemical evaluation and mutation detection. (1283784)
1992
22
Successful treatment of dihydropteridine reductase deficiency, with an interesting effect of 5-hydroxytryptophan deficiency on sleep patterns. (1861459)
1991
23
Adverse effects of trimethoprim-sulfamethoxazole in a child with dihydropteridine reductase deficiency. (2391014)
1990
24
Brain CT and MR findings in hyperphenylalaninemia due to dihydropteridine reductase deficiency (variant of phenylketonuria). (2398144)
1990
25
Insertion of an extra codon for threonine is a cause of dihydropteridine reductase deficiency. (2116088)
1990
26
Neuroblastoma in a patient with dihydropteridine reductase deficiency. (2209664)
1990
27
Hyperphenylalaninemia caused by dihydropteridine reductase deficiency in children receiving chemotherapy for acute lymphoblastic leukemia. (2795366)
1989
28
Progressive intracranial calcification in dihydropteridine reductase deficiency prior to folinic acid therapy. (2785251)
1989
29
The use of restriction fragment length polymorphisms in prenatal diagnosis of dihydropteridine reductase deficiency. (2895188)
1988
30
Two mutations of dihydropteridine reductase deficiency. (2894818)
1988
31
Human dihydropteridine reductase: characterisation of a cDNA clone and its use in analysis of patients with dihydropteridine reductase deficiency. (3031582)
1987
32
Tetrahydrobiopterin and "non-responsive" dihydropteridine reductase deficiency. (2885683)
1987
33
Tetrahydrobiopterin in dihydropteridine reductase deficiency. (3945285)
1986
34
Genetic analysis of partial dihydropteridine reductase deficiency in families with mental retardation. (3104679)
1986
35
Neonatal screening for dihydropteridine reductase deficiency. (3930876)
1985
36
Phenylketonuria due to dihydropteridine reductase deficiency: presentation of two cases. (3930875)
1985
37
Dihydropteridine reductase deficiency: non-response to oral tetrahydrobiopterin load test. (6434829)
1984
38
A mild case of dihydropteridine reductase deficiency with residual activity in erythrocytes. (6438398)
1984
39
Diagnosis of dihydropteridine reductase deficiency by erythrocyte enzyme assay. (7322696)
1981
40
Heterogeneity of the molecular defect in human dihydropteridine reductase deficiency. (7326033)
1981
41
Hyperphenylalaninemia due to dihydropteridine reductase deficiency: diagnosis by measurement of oxidized and reduced pterins in urine. (7367090)
1980
42
Dihydropteridine reductase deficiency diagnosis by assays on peripheral blood cells. (6101503)
1980
43
Dihydropteridine reductase deficiency diagnosis by assays on peripheral blood-cells. (93181)
1979
44
Dihydropteridine reductase deficiency associated with severe neurologic disease and mild hyperphenylalaninemia. (312482)
1979
45
Hyperphenylalaninaemia due to dihydropteridine reductase deficiency. (28230)
1978
46
A disorder of biogenic amines in dihydropteridine reductase deficiency. (27135)
1978
47
Biogenic amine synthesis defect in dihydropteridine reductase deficiency. (20665)
1977
48
Hyperphenylalaninemia due to dihydropteridine reductase deficiency. Assay of the enzyme in fibroblasts from affected infants, heterozygotes, and in normal amniotic fluid cells. (978323)
1976
49
Dihydropteridine reductase deficiency variant of phenylketonuria: a disorder of neurotransmitters. (5799)
1975
50
Letter: Pterin administration as a therapy for P.K.U. due to dihydropteridine-reductase deficiency? (52788)
1975

Variations for Dihydropteridine Reductase Deficiency

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Dihydropteridine Reductase Deficiency:

1
id Gene Name Type Significance SNP ID Assembly Location
1QDPRNM_000320.2(QDPR): c.68G> A (p.Gly23Asp)single nucleotide variantPathogenicrs104893863GRCh37Chr 4, 17513610: 17513610
2QDPRNM_000320.2(QDPR): c.322T> G (p.Trp108Gly)single nucleotide variantPathogenicrs104893864GRCh37Chr 4, 17503456: 17503456
3QDPRNM_000320.2(QDPR): c.106T> C (p.Trp36Arg)single nucleotide variantPathogenicrs104893865GRCh37Chr 4, 17510986: 17510986
4QDPRNM_000320.2(QDPR): c.449A> G (p.Tyr150Cys)single nucleotide variantPathogenicrs104893866GRCh37Chr 4, 17493951: 17493951
5QDPRNM_000320.2(QDPR): c.270G> A (p.Trp90Ter)single nucleotide variantPathogenicrs104893867GRCh37Chr 4, 17506027: 17506027

Expression for genes affiliated with Dihydropteridine Reductase Deficiency

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2BioGPS, 16Gene 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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51PathCards, 56Reactome, 39NCBI BioSystems Database, 31KEGG, 61Thomson Reuters
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Pathways related to Dihydropteridine Reductase Deficiency according to GeneCards/GeneDecks:

(show all 12)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.5PTS, SPR
2
Show member pathways
tyrosine biosynthesis IV39
tetrahydrobiopterin salvage39
9.4QDPR, PAH
39.1SLC6A3, TH
4
Show member pathways
Serotonin Transporter Activity39
9.1TH, SLC6A3
59.1SLC6A3, TH
6
Show member pathways
9.1SLC6A3, TH
79.1QDPR, PTS, SPR
8
Show member pathways
phenylalanine utilization39
noradrenaline and adrenaline degradation39
phenylalanine degradation IV39
9.0PAH, TH
99.0PAH, TH
10
Show member pathways
catecholamine biosynthesis39
9.0TH, PAH
11
Show member pathways
creatine-phosphate biosynthesis39
glycine degradation (creatine biosynthesis)39
putrescine biosynthesis III39
spermidine biosynthesis I39
tryptophan degradation via kynurenine39
spermine biosynthesis39
urea cycle39
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I39
tyrosine degradation I39
L-carnitine biosynthesis39
methylthiopropionate biosynthesis39
2-oxoglutarate decarboxylation to succinyl-CoA39
S-methyl-5-thioadenosine degradation II39
8.6QDPR, PAH, TH
12
Show member pathways
7.6SPR, TH, PTS, PAH, QDPR

Compounds for genes affiliated with Dihydropteridine Reductase Deficiency

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Sources:
25HMDB, 46Novoseek, 30IUPHAR, 12DrugBank, 52PharmGKB
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Compounds related to Dihydropteridine Reductase Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 76)
idCompoundScoreTop Affiliating Genes
1Dyspropterin259.9SPR, PTS
27-biopterin469.8PAH, QDPR
36-biopterin469.8QDPR, PAH
4dihydroneopterin triphosphate46 2510.8PTS, SPR
5tetrahydropteridine46 2510.6TH, QDPR
6alpha-methyl-p-tyrosine469.5SLC6A3, TH
7mazindol46 30 1211.5TH, SLC6A3
8ibotenic acid469.5TH, SLC6A3
9nomifensine46 30 1211.5TH, SLC6A3
10octopamine46 3010.5SLC6A3, TH
11d amphetamine469.4TH, SLC6A3
12tetrahydropterin469.4TH, PAH
13hpah469.4TH, PAH
14beta-phenylethylamine46 3010.4SLC6A3, TH
15mdma469.4TH, SLC6A3
16dihydrofolate469.4QDPR, PAH, SPR
174a-hydroxytetrahydrobiopterin46 2510.4TH, PAH
18methylphenidate46 52 1211.3TH, SLC6A3
19reserpine46 30 1211.3SLC6A3, TH
20neopterin469.3PTS, PAH, QDPR
21L-Tyrosine25 1210.3PAH, TH
22amine469.3PTS, PAH, QDPR
23maoa469.3SLC6A3, TH
24L-Phenylalanine25 1210.3PAH, TH
25pramipexole46 30 52 1212.2TH, SLC6A3
261 methyl 4 phenylpyridinium469.2TH, SLC6A3
275-hydroxytryptophan469.1QDPR, PTS, TH
28quinpirole46 3010.0SLC6A3, TH
29carbidopa46 3010.0TH, PTS, SLC6A3
30tyramine46 30 2510.8SLC6A3, TH
316-pyruvoyltetrahydropterin468.7QDPR, PTS, TH, SPR
32pteridine468.7QDPR, PTS, TH, SPR
33nmda46 309.6SLC6A3, PTS, TH
34Sapropterin258.6SPR, TH, PAH, QDPR
35dihydrobiopterin46 259.6SPR, TH, PAH, QDPR
36catecholamine468.5TH, PTS, PAH, QDPR
37aspartate468.3SLC6A3, PAH, PTS, TH
38alanine468.3TH, PAH, SLC6A3, QDPR
39dihydropteridine46 259.1QDPR, SPR, TH, PTS, PAH
40sepiapterin46 259.1SPR, TH, PTS, PAH, QDPR
41pterin46 259.1SPR, TH, PTS, PAH, QDPR
42tetrahydrobiopterin46 25 1210.1SPR, TH, PTS, PAH, QDPR
43phenylalanine468.1SPR, TH, PTS, PAH, QDPR
44norepinephrine46 25 1210.1QDPR, SLC6A3, PAH, TH, SPR
45gtp46 309.1QDPR, PAH, PTS, TH, SPR
46levodopa46 129.0TH, PTS, PAH, SLC6A3, QDPR
47cysteine468.0TH, PTS, PAH, SLC6A3
48h2o2468.0TH, PTS, PAH, SLC6A3, QDPR
49tyrosine467.9QDPR, PAH, PTS, TH, SPR
50dopamine46 30 25 1210.6SPR, TH, PTS, PAH, SLC6A3, QDPR

GO Terms for genes affiliated with Dihydropteridine Reductase Deficiency

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17Gene Ontology
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Cellular components related to Dihydropteridine Reductase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmGO:0057377.7TH, PTS, SLC6A3, QDPR, SPR
2cytosolGO:0058297.3QDPR, PAH, PTS, TH, SPR

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1L-phenylalanine catabolic processGO:0065599.6QDPR, PAH
2nitric oxide metabolic processGO:0462099.6PTS, SPR
3regulation of nitric-oxide synthase activityGO:0509999.6PTS, SPR
4cellular amino acid metabolic processGO:0065209.5PTS, QDPR
5tetrahydrobiopterin biosynthetic processGO:0067299.4QDPR, PTS, SPR
6dopamine biosynthetic processGO:0424169.3TH, SLC6A3
7catecholamine biosynthetic processGO:0424239.3PAH, TH
8cellular response to drugGO:0356909.1QDPR, TH
9response to ethanolGO:0454719.1SLC6A3, TH
10locomotory behaviorGO:0076268.8SLC6A3, TH
11cellular nitrogen compound metabolic processGO:0346418.8QDPR, PAH, TH
12neurotransmitter biosynthetic processGO:0421368.8SLC6A3, PAH, TH
13small molecule metabolic processGO:0442817.9SPR, TH, PTS, PAH, QDPR

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

idNameGO IDScoreTop Affiliating Genes
1amino acid bindingGO:0165979.0PAH, TH
2dopamine bindingGO:0352408.8SLC6A3, TH

Products for genes affiliated with Dihydropteridine Reductase Deficiency

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  • Antibodies
  • Proteins
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  • Antibodies

Sources for Dihydropteridine Reductase Deficiency

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet