Lesch-Nyhan Syndrome(HPRT complete deficiency) Explore Disorder's Alias
An X-linked dominant mode(s) within the Metabolic disorders category
Candidate Gene Information
An X-linked dominant 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 | HPRT1/3251 | hypoxanthine phosphoribosyltransferase 1 | Xq26.2 | ChrX, NC_000023.11 (134460165..134500668) |
40504 nt | 9 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
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Clinical Symptoms & Disabilities