Log In|Sign Up
ENLesch-Nyhan Syndrome (LNS)
Alias:
Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency
Hprt Deficiency
Complete Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency
Hypoxanthine Guanine Phosphoribosyltransferase Deficiency
X-Linked Hyperuricemia
Hprt1 Deficiency
Lns
Hypoxanthine Guanine Phosphoribosyltransferase Deficiency, Grade Iv
Hypoxanthine Guanine Phosphoribosyltransferase Complete Deficiency
Hypoxanthine-Guanine Phosphoribosyltransferase 1 Deficiency
Choreoathetosis Self-Mutilation Syndrome
Deficiency of Imp Pyrophosphorylase
Hprt Complete Deficiency
Hprt Deficiency Grade Iv
Lesch-Nyhan Disease
Hgprt Deficiency
Hprt - [ Hypoxanthine-Guanine Phosphoribosyltransferase] Complete Deficiency
Total Hgprt - [hypoxanthine-Guanine Phosphoribosyltransferase] Deficiency
Total Hypoxanthine-Guanine Phosphoribosyl Transferase Deficiency
Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency
Juvenile Gout, Choreoathetosis, Mental Retardation Syndrome
Hypoxanthine-Guanine-Phosphoribosyltransferase Deficiency
Deficiency of Hypoxanthine Phosphoribosyltransferase
Hypoxanthine Phosphoribosyltransferase Deficiency
Deficiency of Guanine Phosphoribosyltransferase
X-Linked Uric Aciduria Enzyme Defect
Juvenile Hyperuricemia Syndrome
Primary Hyperuricemia Syndrome
X-Linked Primary Hyperuricemia
Hprt Deficiency, Complete
Complete Hprt Deficiency
Lesch - Nyhan Syndrome
Total Hprt Deficiency
Hg-Prt Deficiency
Hprt1 Disorders
Lnd
Favorite
Lesch-Nyhan Syndrome, also known as hypoxanthine-guanine phosphoribosyltransferase deficiency, is related to hyperuricemia, hprt-related and disorder of purine metabolism, and has symptoms including vomiting, opisthotonus and abnormality of extrapyramidal motor function. An important gene associated with Lesch-Nyhan Syndrome is HPRT1 (Hypoxanthine Phosphoribosyltransferase 1), and among its related pathways/superpathways are Metabolism and Metabolism of nucleotides. The drugs Dopamine and Ecopipam have been mentioned in the context of this disorder. Affiliated tissues include kidney and skin, and related phenotypes are spasticity and intellectual disability, mild
Related ID：
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
Gene & Mutation
#
Gene
Function
Score
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
References Literature
Title
PMID
Journal
Year
IF
