| Disease Aliases (19) | Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive Gtp - guanosine-5-triphosphate cyclohydrolase deficiency Gtp cyclohydrolase 1 deficiency (gtpch) Gtp cyclohydrolase 1-related disorders Gtp cyclohydrolase 1 deficiency Gtp-cyclohydrolase i deficiency Gtpch deficiency Guanosine triphosphate (gtp) cyclohydrolase i deficiency Guanosine triphosphate cyclohydrolase i deficiency Guanosine-5-triphosphate cyclohydrolase deficiency Hpabh4b Hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to gtp cyclohydrolase i deficiency Hyperphenylalaninemia due to gtp cyclohydrolase deficiency Hyperphenylalaninemia with neopterin deficiency Hyperphenylalaninemia, bh4-deficient, b Hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to gtp cyclohydrolase 1 deficiency Hyperphenylalaninemia, bh4-deficient, b; hpabh4b Hyperphenylalaninemia, bh4-deficient, type b |
Associated Genes (1) NCBI-RefSeq: GCH1 (GTP cyclohydrolase 1) External Links: gnomAD browser Ensembl GeneCards
| |||||||
| Cross-references of GTP cyclohydrolase I deficiency with hyperphenylalaninemia | OMIM | GARD | Orphanet | NCBI-GTR | NCBI-MedGen | MalaCards | MeSH | Annotations | |