MCID: DHY007
MIFTS: 46

Dihydropteridine Reductase Deficiency malady

Rare diseases category
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Summaries for Dihydropteridine Reductase Deficiency

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MalaCards based summary: Dihydropteridine Reductase Deficiency, also known as quinoid dihydropteridine reductase deficiency, is related to phenylketonuria and neuroblastoma. 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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Dihydropteridine Reductase Deficiency, Aliases & Descriptions:

Name: Dihydropteridine Reductase Deficiency 42 22 62
Quinoid Dihydropteridine Reductase Deficiency 42 62
Phenylketonuria Type 2 42 62
Hyperphenylalaninemia Due to Dihydropteridine Reductase Deficiency 42
 
Hyperphenylalaninemia, Bh-4-Deficient, C 42
Qdpr Deficiency 42
Dhpr Deficiency 42


Classifications:

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


Related Diseases for Dihydropteridine Reductase Deficiency

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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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Drug clinical trials:

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Search NIH Clinical Center for Dihydropteridine Reductase Deficiency

Genetic Tests for Dihydropteridine Reductase Deficiency

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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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MalaCards organs/tissues related to Dihydropteridine Reductase Deficiency:

32
Brain, Testes

Animal Models for Dihydropteridine Reductase Deficiency or affiliated genes

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MGI Mouse Phenotypes related to Dihydropteridine Reductase Deficiency:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.0PAH, TH, SLC6A3, PTS
2MP:00053867.6SPR, SLC6A3, PAH, PTS, TH
3MP:00036317.5SPR, SLC6A3, PAH, PTS, TH
4MP:00053787.4SLC6A3, PAH, PTS, TH, SPR
5MP:00053767.2PAH, SPR, TH, PTS, SLC6A3

Publications for Dihydropteridine Reductase Deficiency

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Articles related to Dihydropteridine Reductase Deficiency:

(show top 50)    (show all 61)
idTitleAuthorsYear
1
QDPR gene mutation and clinical follow-up in Chinese patients with dihydropteridine reductase deficiency. (25124972)
2014
2
Dihydropteridine reductase deficiency and treatment with tetrahydrobiopterin: a case report. (23430801)
2013
3
Dopamine agonists in dihydropteridine reductase deficiency. (22325981)
2012
4
Diagnosis, treatment and gene mutation analysis of the first case with dihydropteridine reductase deficiency in the mainland of China]. (19099731)
2008
5
Dihydropteridine reductase deficiency in man: from biology to treatment. (14705166)
2004
6
Evaluation of a fetus at risk for dihydropteridine reductase deficiency by direct mutation analysis using denaturing gradient gel electrophoresis. (11746132)
2001
7
Clinical and EEG video-polygraphic features of epileptic spasms in a child with dihydropteridine reductase deficiency. Efficiency of hydrocortisone. (11174152)
2000
8
Genotype-phenotype correlation in dihydropteridine reductase deficiency. (10896287)
2000
9
Treatment of phenylketonuria due to dihydropteridine reductase deficiency]. (11062962)
2000
10
Variant of dihydropteridine reductase deficiency without hyperphenylalaninaemia: effect of oral phenylalanine loading. (10384371)
1999
11
Juvenile form of dihydropteridine reductase deficiency in 2 Tunisian patients. (10029353)
1998
12
Dihydropteridine reductase deficiency in a large consanguineous Tunisian family: clinical, biochemical, and neuropathologic findings. (9796752)
1998
13
Dihydropteridine reductase deficiency localized to the central nervous system. (9700606)
1998
14
Dihydropteridine reductase deficiency: physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlations. (9744478)
1998
15
Molecular analysis of dihydropteridine reductase deficiency: identification of two novel mutations in Japanese patients. (9341885)
1997
16
Electromyographic alterations in hyperphenylalaninemia due to dihydropteridine reductase deficiency. (9075022)
1997
17
Monoaminergic effects of folinic acid, L-DOPA, and 5-hydroxytryptophan in dihydropteridine reductase deficiency. (7760062)
1995
18
Molecular basis of dihydropteridine reductase deficiency. (7627180)
1995
19
Catalytic activity of tetrahydrobiopterin in dihydropteridine reductase deficiency and indications for treatment. (8433887)
1993
20
Tetrahydrobiopterin and quinonoid dihydrobiopterin concentrations in CSF from patients with dihydropteridine reductase deficiency. (7609464)
1993
21
Identification and in vitro expression of mutations causing dihydropteridine reductase deficiency. (8518287)
1993
22
The spectrum of mutations in dihydropteridine reductase deficiency. (8304097)
1993
23
Atypical (mild) forms of dihydropteridine reductase deficiency: neurochemical evaluation and mutation detection. (1283784)
1992
24
Successful treatment of dihydropteridine reductase deficiency, with an interesting effect of 5-hydroxytryptophan deficiency on sleep patterns. (1861459)
1991
25
Adverse effects of trimethoprim-sulfamethoxazole in a child with dihydropteridine reductase deficiency. (2391014)
1990
26
Brain CT and MR findings in hyperphenylalaninemia due to dihydropteridine reductase deficiency (variant of phenylketonuria). (2398144)
1990
27
Insertion of an extra codon for threonine is a cause of dihydropteridine reductase deficiency. (2116088)
1990
28
Neuroblastoma in a patient with dihydropteridine reductase deficiency. (2209664)
1990
29
Hyperphenylalaninemia caused by dihydropteridine reductase deficiency in children receiving chemotherapy for acute lymphoblastic leukemia. (2795366)
1989
30
Progressive intracranial calcification in dihydropteridine reductase deficiency prior to folinic acid therapy. (2785251)
1989
31
The use of restriction fragment length polymorphisms in prenatal diagnosis of dihydropteridine reductase deficiency. (2895188)
1988
32
Two mutations of dihydropteridine reductase deficiency. (2894818)
1988
33
Human dihydropteridine reductase: characterisation of a cDNA clone and its use in analysis of patients with dihydropteridine reductase deficiency. (3031582)
1987
34
Tetrahydrobiopterin and "non-responsive" dihydropteridine reductase deficiency. (2885683)
1987
35
Tetrahydrobiopterin in dihydropteridine reductase deficiency. (3945285)
1986
36
Neonatal screening for dihydropteridine reductase deficiency. (3930876)
1985
37
Phenylketonuria due to dihydropteridine reductase deficiency: presentation of two cases. (3930875)
1985
38
Dihydropteridine reductase deficiency: non-response to oral tetrahydrobiopterin load test. (6434829)
1984
39
A mild case of dihydropteridine reductase deficiency with residual activity in erythrocytes. (6438398)
1984
40
Diagnosis of dihydropteridine reductase deficiency by erythrocyte enzyme assay. (7322696)
1981
41
Heterogeneity of the molecular defect in human dihydropteridine reductase deficiency. (7326033)
1981
42
Hyperphenylalaninemia due to dihydropteridine reductase deficiency: diagnosis by measurement of oxidized and reduced pterins in urine. (7367090)
1980
43
Dihydropteridine reductase deficiency diagnosis by assays on peripheral blood cells. (6101503)
1980
44
Dihydropteridine reductase deficiency diagnosis by assays on peripheral blood-cells. (93181)
1979
45
Dihydropteridine reductase deficiency associated with severe neurologic disease and mild hyperphenylalaninemia. (312482)
1979
46
Hyperphenylalaninaemia due to dihydropteridine reductase deficiency. (28230)
1978
47
A disorder of biogenic amines in dihydropteridine reductase deficiency. (27135)
1978
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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Expression for genes affiliated with Dihydropteridine Reductase Deficiency

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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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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 IV37
tetrahydrobiopterin salvage37
9.4QDPR, PAH
39.1SLC6A3, TH
4
Show member pathways
Serotonin Transporter Activity37
9.1TH, SLC6A3
59.1SLC6A3, TH
6
Show member pathways
9.1SLC6A3, TH
79.1QDPR, PTS, SPR
8
Show member pathways
phenylalanine utilization37
noradrenaline and adrenaline degradation37
phenylalanine degradation IV37
9.0PAH, TH
99.0PAH, TH
10
Show member pathways
catecholamine biosynthesis37
9.0TH, PAH
11
Show member pathways
creatine-phosphate biosynthesis37
glycine degradation (creatine biosynthesis)37
putrescine biosynthesis III37
spermidine biosynthesis I37
tryptophan degradation via kynurenine37
spermine biosynthesis37
urea cycle37
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I37
tyrosine degradation I37
L-carnitine biosynthesis37
methylthiopropionate biosynthesis37
2-oxoglutarate decarboxylation to succinyl-CoA37
S-methyl-5-thioadenosine degradation II37
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:
24HMDB, 44Novoseek, 28IUPHAR, 11DrugBank, 50PharmGKB
See all sources

Compounds related to Dihydropteridine Reductase Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 76)
idCompoundScoreTop Affiliating Genes
1Dyspropterin249.9SPR, PTS
27-biopterin449.8QDPR, PAH
3dihydroneopterin triphosphate44 2410.8SPR, PTS
46-biopterin449.8QDPR, PAH
5tetrahydropteridine44 2410.6QDPR, TH
6alpha-methyl-p-tyrosine449.5SLC6A3, TH
7mazindol44 28 1111.5SLC6A3, TH
8ibotenic acid449.5SLC6A3, TH
9nomifensine44 28 1111.5SLC6A3, TH
10octopamine44 2810.4SLC6A3, TH
11d amphetamine449.4SLC6A3, TH
12hpah449.4PAH, TH
13tetrahydropterin449.4PAH, TH
14beta-phenylethylamine44 2810.4SLC6A3, TH
15mdma449.4TH, SLC6A3
16dihydrofolate449.4QDPR, SPR, PAH
174a-hydroxytetrahydrobiopterin44 2410.4TH, PAH
18methylphenidate44 50 1111.3TH, SLC6A3
19reserpine44 28 1111.3TH, SLC6A3
20neopterin449.3PAH, QDPR, PTS
21L-Tyrosine24 1110.3PAH, TH
22amine449.3PAH, PTS, QDPR
23maoa449.3TH, SLC6A3
24L-Phenylalanine24 1110.3PAH, TH
251 methyl 4 phenylpyridinium449.2SLC6A3, TH
26pramipexole44 28 50 1112.2SLC6A3, TH
275-hydroxytryptophan449.1QDPR, PTS, TH
28quinpirole44 2810.0TH, SLC6A3
29carbidopa44 2810.0TH, PTS, SLC6A3
30tyramine44 28 2410.8SLC6A3, TH
316-pyruvoyltetrahydropterin448.7QDPR, PTS, SPR, TH
32pteridine448.7SPR, TH, QDPR, PTS
33nmda44 289.6TH, SLC6A3, PTS
34Sapropterin248.6TH, PAH, QDPR, SPR
35dihydrobiopterin44 249.6PAH, TH, SPR, QDPR
36catecholamine448.5PTS, QDPR, TH, PAH
37aspartate448.3TH, PTS, PAH, SLC6A3
38alanine448.3TH, PAH, QDPR, SLC6A3
39pterin44 249.1PAH, QDPR, SPR, TH, PTS
40dihydropteridine44 249.1PTS, QDPR, SPR, TH, PAH
41sepiapterin44 249.1PTS, TH, PAH, QDPR, SPR
42tetrahydrobiopterin44 24 1110.1QDPR, SPR, TH, PTS, PAH
43phenylalanine448.1PAH, QDPR, PTS, TH, SPR
44norepinephrine44 24 1110.1PAH, SPR, QDPR, SLC6A3, TH
45gtp44 289.1PAH, PTS, QDPR, TH, SPR
46levodopa44 119.0QDPR, SLC6A3, PAH, PTS, TH
47cysteine448.0SLC6A3, PAH, PTS, TH
48h2o2448.0SLC6A3, PAH, PTS, TH, QDPR
49tyrosine447.9SPR, QDPR, TH, PAH, PTS
50dopamine44 28 24 1110.6TH, PAH, PTS, SLC6A3, QDPR, SPR

GO Terms for genes affiliated with Dihydropteridine Reductase Deficiency

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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
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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet