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: 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: C0268623
Disease: Tyrosinemia, Type III
Tyrosinemia, Type III 		0.940 Biomarker disease GENOMICS_ENGLAND Manifestation of hawkinsinuria in a patient compound heterozygous for hawkinsinuria and tyrosinemia III. 17560158 2007
CUI: C0268623
Disease: Tyrosinemia, Type III
Tyrosinemia, Type III 		0.940 Biomarker disease BEFREE Congenital HPD deficiency is a rare, relatively benign condition known as hereditary type III tyrosinemia. 12127941 2002
CUI: C0268623
Disease: Tyrosinemia, Type III
Tyrosinemia, Type III 		0.940 Biomarker disease CLINGEN A homozygous missense mutation predicting an Ala to Val change at codon 268 (A268V) in the HPD gene was found in the patient with tyrosinemia type III. 11073718 2000
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 GeneticVariation disease BEFREE A homozygous missense mutation predicting an Ala to Val change at codon 268 (A268V) in the HPD gene was found in the patient with tyrosinemia type III. 11073718 2000
CUI: C0268623
Disease: Tyrosinemia, Type III
Tyrosinemia, Type III 		0.940 GeneticVariation disease UNIPROT A homozygous missense mutation predicting an Ala to Val change at codon 268 (A268V) in the HPD gene was found in the patient with tyrosinemia type III. 11073718 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: C0268623
Disease: Tyrosinemia, Type III
Tyrosinemia, Type III 		0.940 Biomarker disease CLINGEN In vivo correction with recombinant adenovirus of 4-hydroxyphenylpyruvic acid dioxygenase deficiencies in strain III mice. 8989996 1997
CUI: C0268623
Disease: Tyrosinemia, Type III
Tyrosinemia, Type III 		0.940 Biomarker disease CLINGEN A nonsense mutation in the 4-hydroxyphenylpyruvic acid dioxygenase gene (Hpd) causes skipping of the constitutive exon and hypertyrosinemia in mouse strain III. 7774914 1995
CUI: C0268623
Disease: Tyrosinemia, Type III
Tyrosinemia, Type III 		0.940 Biomarker disease MGD A murine model for type III tyrosinemia: lack of immunologically detectable 4-hydroxyphenylpyruvic acid dioxygenase enzyme protein in a novel mouse strain with hypertyrosinemia. 2014797 1991
CUI: C0268623
Disease: Tyrosinemia, Type III
Tyrosinemia, Type III 		0.940 Biomarker disease CLINGEN Assay, properties and tissue distribution of p-hydroxyphenylpyruvate hydroxylase. 4627454 1972
CUI: C0268623
Disease: Tyrosinemia, Type III
Tyrosinemia, Type III 		0.940 CausalMutation disease CLINVAR
CUI: C0268623
Disease: Tyrosinemia, Type III
Tyrosinemia, Type III 		0.940 Biomarker disease CTD_human
CUI: C2931042
Disease: Hawkinsinuria
Hawkinsinuria 		0.730 GeneticVariation disease BEFREE Two mutations of HPD gene, A33T, which are associated with hawkinsinuria and a novel one (V212M) were detected for the 1st time in Greek newborns. 26226126 2016
CUI: C2931042
Disease: Hawkinsinuria
Hawkinsinuria 		0.730 GeneticVariation disease BEFREE Product analysis and inhibition studies of a causative Asn to Ser variant of 4-hydroxyphenylpyruvate dioxygenase suggest a simple route to the treatment of Hawkinsinuria. 20677779 2010
CUI: C2931042
Disease: Hawkinsinuria
Hawkinsinuria 		0.730 GeneticVariation disease ORPHANET Manifestation of hawkinsinuria in a patient compound heterozygous for hawkinsinuria and tyrosinemia III. 17560158 2007
CUI: C2931042
Disease: Hawkinsinuria
Hawkinsinuria 		0.730 Biomarker disease GENOMICS_ENGLAND Manifestation of hawkinsinuria in a patient compound heterozygous for hawkinsinuria and tyrosinemia III. 17560158 2007
CUI: C2931042
Disease: Hawkinsinuria
Hawkinsinuria 		0.730 Biomarker disease GENOMICS_ENGLAND Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III. 10942115 2000
CUI: C2931042
Disease: Hawkinsinuria
Hawkinsinuria 		0.730 GeneticVariation disease BEFREE A heterozygous missense mutation predicting an Ala to Thr change at codon 33 (A33T) was found in the same HPD gene in the two patients with hawkinsinuria. 11073718 2000
CUI: C2931042
Disease: Hawkinsinuria
Hawkinsinuria 		0.730 GeneticVariation disease ORPHANET A heterozygous missense mutation predicting an Ala to Thr change at codon 33 (A33T) was found in the same HPD gene in the two patients with hawkinsinuria. 11073718 2000