{"orpha":708895,"name":"Tetrahydrobiopterin-unresponsive phenylketonuria","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["BH4-unresponsive PKU","BH4-unresponsive phenylketonuria","Tetrahydrobiopterin-unresponsive PKU"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-708895/","orphanet_url":"https://www.orpha.net/en/disease/detail/708895","names":{"fr":{"name":"Phénylcétonurie résistant à la tétrahydrobioptérine","synonyms":["PCU BH4 résistant","PKU BH4 résistant","Phénylcétonurie BH4 résistant","Phénylcétonurie résistant au BH4"]},"de":{"name":"Tetrahydrobiopterin-resistente Phenylketonurie","synonyms":["BH4-non-responsive Phenylketonurie","BH4-resistente Phenylketonurie","BH4-unresponsive PKU"]},"es":{"name":"Fenilcetonuria sin respuesta a tetrahidrobiopterina","synonyms":["Fenilcetonuria sin respuesta a BH4","PKU sin respuesta a BH4","PKU sin respuesta a tetrahidrobiopterina"]},"it":{"name":"Fenilchetonuria non rispondente alla tetraidrobiopterina","synonyms":["PKU non rispondente a BH4","Fenilchetonuria non rispondente a BH4","PKU non rispondente alla tetraidrobiopterina"]},"nl":{"name":"Fenylketonurie ongevoelig voor tetrahydrobiopterine","synonyms":["BH4-resistente PKU","BH4-resistente fenylketonurie","PKU ongevoelig voor tetrahydrobiopterine"]},"pt":{"name":"Tetrahydrobiopterin-unresponsive phenylketonuria"},"pl":{"name":"Fenyloketonuria niereagująca na tetrahydrobiopterynę","synonyms":["BH4-unresponsive PKU","BH4-unresponsive phenylketonuria","Tetrahydrobiopterin-unresponsive PKU"]},"cs":{"name":"Tetrahydrobiopterin-unresponsive phenylketonuria","synonyms":["BH4-unresponsive PKU","BH4-unresponsive phenylketonuria","Tetrahydrobiopterin-unresponsive PKU"]}},"xrefs":[{"source":"OMIM","code":"261600","qualifier":"NTBT","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":716,"name":"Phenylketonuria","classifications":[150,156,181]}],"children":[],"genes":[{"symbol":"PAH","name":"phenylalanine hydroxylase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29025426[PMID]","hgnc":"8582","ensembl":"ENSG00000171759","omim":"612349","loci":["12q23.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}