MCID: DHY007
MIFTS: 45

Dihydropteridine Reductase Deficiency malady

Rare diseases category

Summaries for Dihydropteridine Reductase Deficiency

About this section


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

About this section

Dihydropteridine Reductase Deficiency, Aliases & Descriptions:

Name: Dihydropteridine Reductase Deficiency 42 23 61
Quinoid Dihydropteridine Reductase Deficiency 42 61
Phenylketonuria Type 2 42 61
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

About this section

Graphical network of the top 20 diseases related to Dihydropteridine Reductase Deficiency:



Diseases related to dihydropteridine reductase deficiency

Symptoms for Dihydropteridine Reductase Deficiency

About this section

Drugs & Therapeutics for Dihydropteridine Reductase Deficiency

About this section

Drug clinical trials:

Search ClinicalTrials for Dihydropteridine Reductase Deficiency

Search NIH Clinical Center for Dihydropteridine Reductase Deficiency

Genetic Tests for Dihydropteridine Reductase Deficiency

About this section

Genetic tests related to Dihydropteridine Reductase Deficiency:

id Genetic test Affiliating Genes
1 Dihydropteridine Reductase Deficiency23

Anatomical Context for Dihydropteridine Reductase Deficiency

About this section

MalaCards organs/tissues related to Dihydropteridine Reductase Deficiency:

32
Brain, Testes

Animal Models for Dihydropteridine Reductase Deficiency or affiliated genes

About this section

MGI Mouse Phenotypes related to Dihydropteridine Reductase Deficiency:

36
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

About this section

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

About this section

Expression for genes affiliated with Dihydropteridine Reductase Deficiency

About this section
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

About this section

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

About this section
Sources:
25HMDB, 44Novoseek, 29IUPHAR, 12DrugBank, 50PharmGKB
See all sources

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

(show top 50)    (show all 76)
idCompoundScoreTop Affiliating Genes
1Dyspropterin259.9SPR, PTS
27-biopterin449.8QDPR, PAH
3dihydroneopterin triphosphate44 2510.8SPR, PTS
46-biopterin449.8QDPR, PAH
5tetrahydropteridine44 2510.6QDPR, TH
6alpha-methyl-p-tyrosine449.5SLC6A3, TH
7mazindol44 29 1211.5SLC6A3, TH
8ibotenic acid449.5SLC6A3, TH
9nomifensine44 29 1211.5SLC6A3, TH
10octopamine44 2910.4SLC6A3, TH
11d amphetamine449.4SLC6A3, TH
12hpah449.4PAH, TH
13tetrahydropterin449.4PAH, TH
14beta-phenylethylamine44 2910.4SLC6A3, TH
15mdma449.4TH, SLC6A3
16dihydrofolate449.4QDPR, SPR, PAH
174a-hydroxytetrahydrobiopterin44 2510.4TH, PAH
18methylphenidate44 50 1211.3TH, SLC6A3
19reserpine44 29 1211.3TH, SLC6A3
20neopterin449.3PAH, QDPR, PTS
21L-Tyrosine25 1210.3PAH, TH
22amine449.3PAH, PTS, QDPR
23maoa449.3TH, SLC6A3
24L-Phenylalanine25 1210.3PAH, TH
251 methyl 4 phenylpyridinium449.2SLC6A3, TH
26pramipexole44 29 50 1212.2SLC6A3, TH
275-hydroxytryptophan449.1QDPR, PTS, TH
28quinpirole44 2910.0TH, SLC6A3
29carbidopa44 2910.0TH, PTS, SLC6A3
30tyramine44 29 2510.8SLC6A3, TH
316-pyruvoyltetrahydropterin448.7QDPR, PTS, SPR, TH
32pteridine448.7SPR, TH, QDPR, PTS
33nmda44 299.6TH, SLC6A3, PTS
34Sapropterin258.6TH, PAH, QDPR, SPR
35dihydrobiopterin44 259.6PAH, TH, SPR, QDPR
36catecholamine448.5PTS, QDPR, TH, PAH
37aspartate448.3TH, PTS, PAH, SLC6A3
38alanine448.3TH, PAH, QDPR, SLC6A3
39pterin44 259.1PAH, QDPR, SPR, TH, PTS
40dihydropteridine44 259.1PTS, QDPR, SPR, TH, PAH
41sepiapterin44 259.1PTS, TH, PAH, QDPR, SPR
42tetrahydrobiopterin44 25 1210.1QDPR, SPR, TH, PTS, PAH
43phenylalanine448.1PAH, QDPR, PTS, TH, SPR
44norepinephrine44 25 1210.1PAH, SPR, QDPR, SLC6A3, TH
45gtp44 299.1PAH, PTS, QDPR, TH, SPR
46levodopa44 129.0QDPR, SLC6A3, PAH, PTS, TH
47cysteine448.0SLC6A3, PAH, PTS, TH
48h2o2448.0SLC6A3, PAH, PTS, TH, QDPR
49tyrosine447.9SPR, QDPR, TH, PAH, PTS
50dopamine44 29 25 1210.6TH, PAH, PTS, SLC6A3, QDPR, SPR

GO Terms for genes affiliated with Dihydropteridine Reductase Deficiency

About this section

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Dihydropteridine Reductase Deficiency

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet