QDPR Chromosome 4
Quinoid dihydropteridine reductase
Upload your DNA to see your personal genotypes for variants in QDPR.
What This Gene Does
This gene encodes the enzyme dihydropteridine reductase, which catalyzes the NADH-mediated reduction of quinonoid dihydrobiopterin. This enzyme is an essential component of the pterin-dependent aromatic amino acid hydroxylating systems. Mutations in this gene resulting in QDPR deficiency include aberrant splicing, amino acid substitutions, insertions, or premature terminations. Dihydropteridine reductase deficiency presents as atypical phenylketonuria due to insufficient production of biopterin, a cofactor for phenylalanine hydroxylase. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Short chain dehydrogenase/reductase superfamily
Locus Type
gene with protein product
Location
4p15.32
Ensembl
ENSG00000151552
Associated Conditions (6)
Dihydropteridine reductase deficiency
Inborn genetic diseases
QDPR-related disorder
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
Colorectal cancer
Hyperphenylalaninemia due to tetrahydrobiopterin deficiency
Key Variants
RS112209600
Conflicting classifications of pathogenicity
Dihydropteridine reductase deficiency, Inborn genetic diseases, Dihydropteridine reductase deficiency
Health Risk
RS1309099253
Conflicting classifications of pathogenicity
Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency
Health Risk
RS140949360
Conflicting classifications of pathogenicity
Dihydropteridine reductase deficiency, QDPR-related disorder, Dihydropteridine reductase deficiency
Health Risk
RS754982401
Conflicting classifications of pathogenicity
Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency
Health Risk
RS758659025
Conflicting classifications of pathogenicity
Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency
Health Risk
RS762480653
Conflicting classifications of pathogenicity
Dihydropteridine reductase deficiency, Inborn genetic diseases, Dihydropteridine reductase deficiency
Health Risk
RS776479029
Conflicting classifications of pathogenicity
Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency
Health Risk
RS1028029163
Likely pathogenic
Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency
Health Risk
RS104893865
Likely pathogenic
Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency
Health Risk
RS1184906056
Likely pathogenic
Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency
Health Risk
RS1364780551
Likely pathogenic
Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency
Health Risk
RS1428018512
Likely pathogenic
Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency
Health Risk
All Variants (54)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS112209600 | Health Risk | Conflicting classifications of pathogenicity | Dihydropteridine reductase deficiency, Inborn genetic diseases, Dihydropteridine reductase deficiency |
| RS1309099253 | Health Risk | Conflicting classifications of pathogenicity | Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency |
| RS140949360 | Health Risk | Conflicting classifications of pathogenicity | Dihydropteridine reductase deficiency, QDPR-related disorder, Dihydropteridine reductase deficiency |
| RS754982401 | Health Risk | Conflicting classifications of pathogenicity | Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency |
| RS758659025 | Health Risk | Conflicting classifications of pathogenicity | Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency |
| RS762480653 | Health Risk | Conflicting classifications of pathogenicity | Dihydropteridine reductase deficiency, Inborn genetic diseases, Dihydropteridine reductase deficiency |
| RS776479029 | Health Risk | Conflicting classifications of pathogenicity | Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency |
| RS1028029163 | Health Risk | Likely pathogenic | Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency |
| RS104893865 | Health Risk | Likely pathogenic | Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency |
| RS1184906056 | Health Risk | Likely pathogenic | Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency |
| RS1364780551 | Health Risk | Likely pathogenic | Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency |
| RS1428018512 | Health Risk | Likely pathogenic | Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency |
| RS1444280419 | Health Risk | Likely pathogenic | Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency |
| RS1577184852 | Health Risk | Likely pathogenic | Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency |
| RS2474671527 | Health Risk | Likely pathogenic | Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency |
| RS2474684351 | Health Risk | Likely pathogenic | Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency |
| RS569310979 | Health Risk | Likely pathogenic | Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency |
| RS750513275 | Health Risk | Likely pathogenic | — |
| RS762772317 | Health Risk | Likely pathogenic | Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency |
| RS776171302 | Health Risk | Likely pathogenic | Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency |
| RS777797545 | Health Risk | Likely pathogenic | Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency |
| RS995264302 | Health Risk | Likely pathogenic | Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency |
| RS104893864 | Health Risk | Pathogenic | Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency |
| RS104893866 | Health Risk | Pathogenic | Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency |
| RS104893867 | Health Risk | Pathogenic | Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency |
| RS1171544975 | Health Risk | Pathogenic | Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency |
| RS1262627752 | Health Risk | Pathogenic | Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency |
| RS1362475419 | Health Risk | Pathogenic | Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency |
| RS1407920390 | Health Risk | Pathogenic | Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency |
| RS1577191558 | Health Risk | Pathogenic | Dihydropteridine reductase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, Dihydropteridine reductase deficiency |
| RS1577195951 | Health Risk | Pathogenic | Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency |
| RS2108987681 | Health Risk | Pathogenic | Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency |
| RS2108987721 | Health Risk | Pathogenic | — |
| RS2108987974 | Health Risk | Pathogenic | Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency |
| RS2108992958 | Health Risk | Pathogenic | Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency |
| RS2108993008 | Health Risk | Pathogenic | Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency |
| RS2108997263 | Health Risk | Pathogenic | Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency |
| RS2108999089 | Health Risk | Pathogenic | Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency |
| RS2474656264 | Health Risk | Pathogenic | Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency |
| RS2474656670 | Health Risk | Pathogenic | Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency |
| RS2474658353 | Health Risk | Pathogenic | Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency |
| RS2474680455 | Health Risk | Pathogenic | Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency |
| RS761619802 | Health Risk | Pathogenic | Dihydropteridine reductase deficiency, Colorectal cancer, Dihydropteridine reductase deficiency |
| RS769460415 | Health Risk | Pathogenic | Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency |
| RS778806991 | Health Risk | Pathogenic | Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency |
| RS779997983 | Health Risk | Pathogenic | Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency |
| RS1034528249 | Health Risk | Pathogenic/Likely pathogenic | Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency |
| RS104893863 | Health Risk | Pathogenic/Likely pathogenic | Dihydropteridine reductase deficiency, Hyperphenylalaninemia due to tetrahydrobiopterin deficiency, Dihydropteridine reductase deficiency |
| RS1254995369 | Health Risk | Pathogenic/Likely pathogenic | QDPR-related disorder, Dihydropteridine reductase deficiency, QDPR-related disorder |
| RS1718196012 | Health Risk | Pathogenic/Likely pathogenic | Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency |