QDPR, quinoid dihydropteridine reductase, 5860

N. diseases: 45; N. variants: 16
Disease: Neurologic Symptoms ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0235031
Disease: Neurologic Symptoms
Neurologic Symptoms 		0.030 Biomarker group BEFREE QDPR-deficient patients develop neurological symptoms including hypokinesia, truncal hypotonia, intellectual disability and seizures. 30995231 2019
CUI: C0235031
Disease: Neurologic Symptoms
Neurologic Symptoms 		0.030 Biomarker group BEFREE DHPR-deficient patients are diagnosed by a lack of response to a low phenylalanine diet and by severe neurological symptoms. 11746132 2001
CUI: C0235031
Disease: Neurologic Symptoms
Neurologic Symptoms 		0.030 GeneticVariation group BEFREE Mutations in the dihydropteridine reductase (DHPR) gene result in hyperphenylalaninaemia and deficiency of various neurotransmitters in the central nervous system, causing severe neurological symptoms. 9341885 1997