Miscellaneous Metabolic Disorders
Gene: HPD
Well-established gene-disease association (see OMIM entry). 4-hydroxyphenylpyruvate dioxygenase deficiencies are classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of amino acid metabolism.
Sources: NHS GMSCreated: 5 Feb 2021, 2 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hawkinsinuria MIM#140350; Tyrosinemia, type III MIM#276710; Disorders of phenylalanine or tyrosine metabolism
Publications
Variants in this GENE are reported as part of current diagnostic practice
Gene: hpd has been classified as Green List (High Evidence).
Gene: hpd has been classified as Green List (High Evidence).
gene: HPD was added gene: HPD was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: HPD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: HPD were set to 10942115; 11073718; 27604308 Phenotypes for gene: HPD were set to Hawkinsinuria MIM#140350; Tyrosinemia, type III MIM#276710; Disorders of phenylalanine or tyrosine metabolism Review for gene: HPD was set to GREEN gene: HPD was marked as current diagnostic