Online Mendelian Inheritance in Man - HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/261630 http://purl.bioontology.org/ontology/OMIM/261630
Preferred Name	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C
Synonyms	HPABH4C DHPR DEFICIENCY HYPERPHENYLALANINEMIA, TETRAHYDROBIOPTERIN-DEFICIENT, DUE TO DHPR DEFICIENCY QUINOID DIHYDROPTERIDINE REDUCTASE DEFICIENCY QDPR DEFICIENCY DIHYDROPTERIDINE REDUCTASE DEFICIENCY
Type	http://www.w3.org/2002/07/owl#Class

altLabel	HPABH4C DHPR DEFICIENCY HYPERPHENYLALANINEMIA, TETRAHYDROBIOPTERIN-DEFICIENT, DUE TO DHPR DEFICIENCY QUINOID DIHYDROPTERIDINE REDUCTASE DEFICIENCY QDPR DEFICIENCY DIHYDROPTERIDINE REDUCTASE DEFICIENCY See more See less
prefLabel	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C
Gene Symbol	QDPR DHPR
Scope Statement	Diurnal fluctuation of neurologic symptoms [MISCELLANEOUS] Defect in tetrahydrobiopterin (BH4) synthesis [MISCELLANEOUS] Onset in infancy [MISCELLANEOUS] Caused by mutation in the quinoid dihydropteridine reductase gene (QDPR, 612676.0001) [MOLECULAR BASIS] Variable severity [MISCELLANEOUS] Progressive neurologic deterioration if untreated [MISCELLANEOUS] Treatment with BH4 is effective [MISCELLANEOUS] Early treatment can reduce neurologic symptoms [MISCELLANEOUS] Neurotransmitter treatment with L-dopa and serotonin or precursors is effective [MISCELLANEOUS] See more See less
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU036340 http://purl.bioontology.org/ontology/OMIM/MTHU020106 http://purl.bioontology.org/ontology/OMIM/MTHU025919 http://purl.bioontology.org/ontology/OMIM/MTHU000780 http://purl.bioontology.org/ontology/OMIM/MTHU000363 http://purl.bioontology.org/ontology/OMIM/MTHU025901 http://purl.bioontology.org/ontology/OMIM/MTHU010142 http://purl.bioontology.org/ontology/OMIM/MTHU001772 http://purl.bioontology.org/ontology/OMIM/MTHU001903 http://purl.bioontology.org/ontology/OMIM/MTHU025920 http://purl.bioontology.org/ontology/OMIM/MTHU025908 http://purl.bioontology.org/ontology/OMIM/MTHU036384 http://purl.bioontology.org/ontology/OMIM/MTHU000133 http://purl.bioontology.org/ontology/OMIM/MTHU025905 http://purl.bioontology.org/ontology/OMIM/MTHU005945 http://purl.bioontology.org/ontology/OMIM/MTHU025907 http://purl.bioontology.org/ontology/OMIM/MTHU000196 http://purl.bioontology.org/ontology/OMIM/MTHU025902 http://purl.bioontology.org/ontology/OMIM/MTHU025918 http://purl.bioontology.org/ontology/OMIM/MTHU037360 http://purl.bioontology.org/ontology/OMIM/MTHU000242 See more See less
tui	T047
Gene Locus	4p15.31
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	261630
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C0268465
OMIM Entry Type	3
OMIM MimType Value	pound

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