HPD, 4-hydroxyphenylpyruvate dioxygenase, 3242

N. diseases: 102; N. variants: 9
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0011389
Disease: Dental Plaque
Dental Plaque
0.010 Biomarker phenotype BEFREE We performed regression analyses for levels of 3 periodontopathogens in subgingival dental plaques (Porphyromonas gingivalis [Pg], Treponema denticola [Td], and Tannerella forsythia [Tf]) and 3 clinical measures of PD (periodontal probing depth [PPD], gingival recession [REC], and bleeding on probing [BOP]). 27727278 2016
CUI: C0221074
Disease: Depression, Postpartum
Depression, Postpartum
0.010 Biomarker disease BEFREE International studies suggest that PPD is characterized by additional symptoms compared to maternal postpartum depression. 31533685 2019
CUI: C0086132
Disease: Depressive Symptoms
Depressive Symptoms
0.020 Biomarker phenotype BEFREE We estimate linear models of the effect of drug-related violence (CIDE-PPD database) on depression symptoms (MxFLS 2009-2012). 30114594 2018
CUI: C0086132
Disease: Depressive Symptoms
Depressive Symptoms
0.020 Biomarker phenotype BEFREE <b>Discussion:</b> Be a Mom promotes the enhancement of women's emotion regulation abilities and self-compassion, and this seems to exert a protective effect in the presence of PPD risk factors (or early-onset symptoms) because it led to a reduction of depressive symptoms. 30873060 2019
CUI: C0376338
Disease: Diagnosis, Psychiatric
Diagnosis, Psychiatric
0.010 Biomarker disease BEFREE The objective of this study was to replicate the predictive efficacy of the previously established model in women with and without a previous psychiatric diagnosis and to understand the effects of changing hormone levels on PPD biomarker loci. 26503311 2016
CUI: C1851920
Disease: Dopa-Responsive Dystonia
Dopa-Responsive Dystonia
0.080 Biomarker disease BEFREE These results suggest that some novel mutations should exist on one of the alleles in some unknown region of the GCH1 gene, and may decrease the GCH1 mRNA causing the HPD/DRD symptoms. 10403837 1999
CUI: C1851920
Disease: Dopa-Responsive Dystonia
Dopa-Responsive Dystonia
0.080 Biomarker disease BEFREE In juvenile parkinsonism and Parkinson's disease, which have dopamine deficiency in the basal ganglia as HPD/DRD, the GCH gene may be normal, and the molecular mechanism of the dopamine deficiency in the basal ganglia is different from that in HPD/DRD. 10079965 1999
CUI: C1851920
Disease: Dopa-Responsive Dystonia
Dopa-Responsive Dystonia
0.080 Biomarker disease BEFREE Hereditary progressive dystonia with marked diurnal fluctuation/dopa-responsive dystonia (HPD/DRD) shows the considerable heterogeneity of clinical phenotypic expression and a dramatic sustained response to levodopa. 15165667 2004
CUI: C1851920
Disease: Dopa-Responsive Dystonia
Dopa-Responsive Dystonia
0.080 GeneticVariation disease BEFREE We found that mutations of GTP cyclohydrolase I, the rate-limiting enzyme in the biosynthesis of tetrahydrobiopterin, which is the cofactor of dopamine-synthesizing tyrosine hydroxylase, cause dominantly inherited hereditary progressive dystonia with marked diurnal fluctuation (HPD, Segawa's disease) probably owing to the decrease of dopamine in the basal ganglia. 9205791 1997
CUI: C1851920
Disease: Dopa-Responsive Dystonia
Dopa-Responsive Dystonia
0.080 Biomarker disease BEFREE The causative gene for hereditary progressive dystonia with marked diurnal fluctuation/dopa-responsive dystonia (HPD/DRD) was discovered in 1994 to be guanosine triphosphate (GTP) cyclohydrolase I, an enzyme involved in tetrahydrobiopterin biosynthesis. 10984669 2000
CUI: C1851920
Disease: Dopa-Responsive Dystonia
Dopa-Responsive Dystonia
0.080 Biomarker disease BEFREE Kinetics of catecholamine biosynthesis and metabolism have been examined in patients with hereditary progressive dystonia with marked diurnal fluctuation of symptoms (HPD, Segawa's disease). 2716962 1989
CUI: C1851920
Disease: Dopa-Responsive Dystonia
Dopa-Responsive Dystonia
0.080 Biomarker disease BEFREE Previous clinical investigations of HPD/DRD have shown a predominance of affected women, with approximately half of HPD/DRD patients being sporadic. 9566388 1998
CUI: C1851920
Disease: Dopa-Responsive Dystonia
Dopa-Responsive Dystonia
0.080 Biomarker disease BEFREE We characterized the GTP cyclohydrolase I (GTP-CH-I) gene in a patient with hereditary progressive dystonia with marked diurnal fluctuation/dopa-responsive dystonia (HPD/DRD). 9177267 1997
CUI: C3658290
Disease: Drug-Induced Acute Liver Injury
Drug-Induced Acute Liver Injury
0.300 Biomarker disease CTD_human Use of proteomic methods to identify serum biomarkers associated with rat liver toxicity or hypertrophy. 16099942 2005
CUI: C3658290
Disease: Drug-Induced Acute Liver Injury
Drug-Induced Acute Liver Injury
0.300 Biomarker disease CTD_human A performance evaluation of three drug-induced liver injury biomarkers in the rat: alpha-glutathione S-transferase, arginase 1, and 4-hydroxyphenyl-pyruvate dioxygenase. 22872058 2012
CUI: C0860207
Disease: Drug-Induced Liver Disease
Drug-Induced Liver Disease
0.300 Biomarker phenotype CTD_human Taken together, these novel liver toxicity biomarkers, GSTA, ARG1, and HPD, add value (both enhanced specificity and sensitivity) to the measurement of ALT alone for monitoring drug-induced liver injury in rat. 22872058 2012
CUI: C0860207
Disease: Drug-Induced Liver Disease
Drug-Induced Liver Disease
0.300 Biomarker phenotype CTD_human Use of proteomic methods to identify serum biomarkers associated with rat liver toxicity or hypertrophy. 16099942 2005
CUI: C0013421
Disease: Dystonia
Dystonia
0.010 GeneticVariation phenotype BEFREE Mutations of GCH result in reductions in GCH activity, BH4, TH activity, and dopamine, causing either recessively inherited GCH deficiency or dominantly inherited hereditary progressive dystonia [HPD; Segawa's disease; also called dopa-responsive dystonia (DRD)].4. 10079965 1999
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.010 GeneticVariation group BEFREE Mutations of GCH result in reductions in GCH activity, BH4, TH activity, and dopamine, causing either recessively inherited GCH deficiency or dominantly inherited hereditary progressive dystonia [HPD; Segawa's disease; also called dopa-responsive dystonia (DRD)].4. 10079965 1999
CUI: C0877008
Disease: Enzyme inhibition disorder
Enzyme inhibition disorder
0.010 Biomarker phenotype BEFREE Metabolome patterns indicative for liver effects and 4-hydroxyphenylpyruvate dioxygenase (HPPD) enzyme-inhibition were established in pregnant rats based on regulated metabolites using reference compounds. 30414988 2019
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
0.100 Biomarker disease HPO
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
0.010 Biomarker disease BEFREE There is substantial but less consistent evidence for a familial relationship between PPD and SCZ: three of six studies supported such a relationship, but one large study reported increased familial risk of PPD for AD and not for SCZ probands. 8297808 1993
CUI: C0220769
Disease: FG syndrome
FG syndrome
0.010 GeneticVariation disease BEFREE However, eight of 12 patients with FGS who had the M1 (Ala213) V or S alleles but were PPD negative did not require transplantation. 9475086 1998
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
0.010 Biomarker disease BEFREE Ginsenoside 25-OCH<sub>3</sub>-PPD Promotes Activity of LXRs To Ameliorate P2X7R-Mediated NLRP3 Inflammasome in the Development of Hepatic Fibrosis. 29929367 2018
CUI: C0423867
Disease: Fine hair
Fine hair
0.100 Biomarker phenotype HPO