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: C0265220
Disease: Pallister-Hall syndrome
Pallister-Hall syndrome 		0.020 GeneticVariation disease BEFREE We studied the involvement of GLI3 in additional phenotypes of digital abnormalities in one family (UR003) with preaxial polydactyly type-IV (PPD-IV), three families (UR014, UR015, and UR016) with dominant PAP-A/B (with PPD-A and -B in the same family), and one family with PHS. 10441570 1999
CUI: C0268623
Disease: Tyrosinemia, Type III
Tyrosinemia, Type III 		0.940 GeneticVariation disease BEFREE We report the case of a boy with tyrosinemia Type III detected using neonatal screening, who is homozygous for the splice donor mutation IVS11+1G>A in intron 11 of the HPD gene. 23036342 2012
CUI: C0268623
Disease: Tyrosinemia, Type III
Tyrosinemia, Type III 		0.940 Biomarker disease CLINGEN We report the case of a boy with tyrosinemia Type III detected using neonatal screening, who is homozygous for the splice donor mutation IVS11+1G>A in intron 11 of the HPD gene. 23036342 2012
CUI: C0031090
Disease: Periodontal Diseases
Periodontal Diseases 		0.020 Biomarker group 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: 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: C0268483
Disease: Tyrosinemias
Tyrosinemias 		0.440 Biomarker disease BEFREE We observed long-term postnatal persistence of edited cells in both models, with reduction of plasma PCSK9 and cholesterol levels following in utero Pcsk9 targeting and rescue of the lethal phenotype of hereditary tyrosinemia type 1 following in utero Hpd targeting. 30297903 2018
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		0.360 Biomarker disease BEFREE We observed long-term postnatal persistence of edited cells in both models, with reduction of plasma PCSK9 and cholesterol levels following in utero Pcsk9 targeting and rescue of the lethal phenotype of hereditary tyrosinemia type 1 following in utero Hpd targeting. 30297903 2018
CUI: C0920652
Disease: skin irritant
skin irritant 		0.010 Biomarker phenotype BEFREE We have therefore investigated donor variability in DC responsiveness to a panel of known human contact allergens (DNFB; paraphenylene diamine, PPD; methyl- chloroisothiazolinone/methylisothiazolinone, CMIT), to the skin irritant benzalkonium chloride and to the mitogen phorbol myristate acetate (PMA). 11288134 2001
CUI: C0268623
Disease: Tyrosinemia, Type III
Tyrosinemia, Type III 		0.940 Biomarker disease CLINGEN We have identified four presumed pathogenic mutations (two missense and two nonsense mutations) in the HPD gene in three unrelated families encompassing four homozygous individuals and one compound heterozygous individual with tyrosinemia type III. 10942115 2000
CUI: C0268623
Disease: Tyrosinemia, Type III
Tyrosinemia, Type III 		0.940 Biomarker disease GENOMICS_ENGLAND We have identified four presumed pathogenic mutations (two missense and two nonsense mutations) in the HPD gene in three unrelated families encompassing four homozygous individuals and one compound heterozygous individual with tyrosinemia type III. 10942115 2000
CUI: C0268623
Disease: Tyrosinemia, Type III
Tyrosinemia, Type III 		0.940 GeneticVariation disease BEFREE We have identified four presumed pathogenic mutations (two missense and two nonsense mutations) in the HPD gene in three unrelated families encompassing four homozygous individuals and one compound heterozygous individual with tyrosinemia type III. 10942115 2000
CUI: C0268623
Disease: Tyrosinemia, Type III
Tyrosinemia, Type III 		0.940 GeneticVariation disease UNIPROT We have identified four presumed pathogenic mutations (two missense and two nonsense mutations) in the HPD gene in three unrelated families encompassing four homozygous individuals and one compound heterozygous individual with tyrosinemia type III. 10942115 2000
CUI: C0268623
Disease: Tyrosinemia, Type III
Tyrosinemia, Type III 		0.940 GermlineCausalMutation disease ORPHANET We have identified four presumed pathogenic mutations (two missense and two nonsense mutations) in the HPD gene in three unrelated families encompassing four homozygous individuals and one compound heterozygous individual with tyrosinemia type III. 10942115 2000
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: C0039075
Disease: Syndactyly
Syndactyly 		0.010 GeneticVariation disease BEFREE We found a non-sense mutation in the GLI3 gene in the family with foot PPD-IV accompanied with hand syndactyly of the third and fourth fingers, but no mutations were detected in the GLI3 gene in the four other cases with PPD-I alone. 15811011 2005
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: C0042693
Disease: Violence
Violence 		0.010 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: C0021400
Disease: Influenza
Influenza 		0.010 Biomarker disease BEFREE We conclude that the hpd gene is conserved during chronic infections of nonencapsulated H. influenzae. 9210589 1997
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: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		0.360 Biomarker disease BEFREE Using tail-vein hydrodynamic-based delivery of NmeCas9 plasmid to target the Hpd gene, we successfully reprogram the tyrosine degradation pathway in Hereditary Tyrosinemia Type I mice. 30231914 2018
CUI: C0019193
Disease: Hepatitis, Toxic
Hepatitis, Toxic 		0.300 Biomarker disease CTD_human Use of proteomic methods to identify serum biomarkers associated with rat liver toxicity or hypertrophy. 16099942 2005
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: C1262760
Disease: Hepatitis, Drug-Induced
Hepatitis, Drug-Induced 		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 Use of proteomic methods to identify serum biomarkers associated with rat liver toxicity or hypertrophy. 16099942 2005
CUI: C4277682
Disease: Chemical and Drug Induced Liver Injury
Chemical and Drug Induced 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