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Term:Lesch-Nyhan syndrome
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Accession:DOID:1919 term browser browse the term
Definition:An inherited disorder transmitted as a sex-linked trait and caused by a deficiency of an enzyme of purine metabolism; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE. Affected individuals are normal in the first year of life and then develop psychomotor retardation, extrapyramidal movement disorders, progressive spasticity, and seizures. Self-destructive behaviors such as biting of fingers and lips are seen frequently. Intellectual impairment may also occur but is typically not severe. Elevation of uric acid in the serum leads to the development of renal calculi and gouty arthritis. (Menkes, Textbook of Child Neurology, 5th ed, pp127)
Synonyms:exact_synonym: Choreoathetosis Self-Mutilation Syndromes;   Complete HGPRT Deficiency Disease;   Complete HPRT Deficiencies;   Complete HPRT Deficiency;   Complete Hypoxanthine Guanine Phosphoribosyltransferase Deficiency;   Deficiency of Guanine Phosphoribosyltransferase;   Deficiency of Hypoxanthine Phosphoribosyltransferase;   Guanine Phosphoribosyltransferase Deficiencies;   Guanine Phosphoribosyltransferase Deficiency;   HG-PRT deficiency;   HGPRT Deficiencies;   HGPRT Deficiency;   HPRT DEFICIENCY;   HPRT1 DEFICIENCY;   Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency;   Hypoxanthine Guanine Phosphoribosyltransferase Deficiency;   Hypoxanthine Phosphoribosyl Transferase Deficiency Disease;   Hypoxanthine Phosphoribosyltransferase Deficiencies;   Hypoxanthine Phosphoribosyltransferase Deficiency;   Hypoxanthine-Phosphoribosyl-Transferase Deficiency Diseases;   Juvenile Gout, Choreoathetosis, Mental Retardation Syndrome;   Juvenile Hyperuricemia Syndrome;   Juvenile Hyperuricemia Syndromes;   LNS;   Lesch Nyhan Disease;   Primary Hyperuricemia Syndrome;   Primary Hyperuricemia Syndromes;   Total HPRT Deficiencies;   Total HPRT Deficiency;   Total Hypoxanthine Guanine Phosphoribosyl Transferase Deficiency;   X Linked Hyperuricemia;   X-Linked Hyperuricemias;   X-linked primary hyperuricemia;   X-linked primary hyperuricemias;   choreoathetosis self mutilation hyperuricemia syndrome;   choreoathetosis self mutilation syndrome;   deficiency of IMP pyrophosphorylase
 narrow_synonym: HPRT DEFICIENCY, COMPLETE HPRT DEFICIENCY, NEUROLOGIC VARIANT;   Lesch-Nyhan Syndrome, Neurologic Variant
 related_synonym: HPRT CHERMSIDE;   HPRT CHICAGO;   HPRT CONNERSVILLE;   HPRT COORPAROO;   HPRT DETROIT;   HPRT EVANSVILLE;   HPRT FLINT;   HPRT Fujimi;   HPRT KINSTON;   HPRT MICHIGAN;   HPRT MIDLAND;   HPRT NEW BRITON;   HPRT NEW HAVEN;   HPRT PARIS;   HPRT TOKYO;   HPRT Yale
 primary_id: MESH:D007926
 alt_id: OMIM:300322;   RDO:0005982
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Lesch-Nyhan syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hprt1 hypoxanthine phosphoribosyltransferase 1 JBrowse link X 158,196,640 158,228,815 RGD:7240710
RGD:8554872
RGD:13463104
RGD:13462064
G Xdh xanthine dehydrogenase JBrowse link 6 25,149,570 25,211,273 RGD:7247657
Lesch-Nyhan Syndrome, Neurologic Variant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hprt1 hypoxanthine phosphoribosyltransferase 1 JBrowse link X 158,196,640 158,228,815 RGD:8554872
RGD:13463104

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    syndrome 4210
      Lesch-Nyhan syndrome 2
        Lesch-Nyhan Syndrome, Neurologic Variant 1
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        central nervous system disease 6892
          brain disease 6396
            disease of mental health 4314
              developmental disorder of mental health 2584
                specific developmental disorder 1319
                  intellectual disability 1146
                    syndromic intellectual disability 211
                      Mental Retardation, X-Linked 198
                        Lesch-Nyhan syndrome 2
                          Lesch-Nyhan Syndrome, Neurologic Variant 1
paths to the root