GTP Cyclohydrolase I Deficiency With Hyperphenylalaninemia(Hyperphenylalaninemia due to gtp cyclohydrolase deficiency) Explore Disorder's Alias
An Autosomal recessive mode(s) within the Metabolic disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Metabolic disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | GCH1/2643 | GTP cyclohydrolase 1 | 14q22.2 | Chr14, NC_000014.9 (54842017..54902826, complement) |
60810 nt | 10 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | PTS/5805 | 6-pyruvoyltetrahydropterin synthase | 11q23.1 | Chr11, NC_000011.10 (112226428..112233973) |
7546 nt | 6 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information Highlighted rows indicate variants are reported from India | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
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Clinical Symptoms & Disabilities