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PATHWAY ONTOLOGY - ANNOTATIONS

The Pathway Ontology (PW), is currently being developed at the Rat Genome Database. For more information about this vocabulary, please see Petri et al. The rat genome database pathway portal. Database (Oxford). 2011 Apr 8;2011:bar010. Print 2011 or contact us (http://rgd.mcw.edu/contact/index.shtml).

Term:Lesch-Nyhan syndrome pathway
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Accession:PW:0001879 term browser browse the term
Definition:An inherited disorder with several psychomotor phenotypes resulting from altered purine metabolism, particularly the salvage pathway, due to defects in the hypoxanthine phosphoribosyltransferase 1 (HPRT1) gene, located on the X chromosome.
Synonyms:exact_synonym: HG-PRT deficiency pathway;   X-linked hyperuricemia pathway;   complete hypoxanthine-guanine phosphoribosyltransferase deficiency pathway;   deficiency of IMP pyrophosphorylase pathway;   hypoxanthine guanine phosphoribosyltransferase deficiency pathway
 related_synonym: SMP:00364


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Lesch-Nyhan syndrome pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ada adenosine deaminase ISO SMPDB SMP:00364 NCBI chr 3:160,115,840...160,139,947
Ensembl chr 3:160,115,842...160,139,947
JBrowse link
G Adcy10 adenylate cyclase 10 ISO SMPDB SMP:00364 NCBI chr13:83,701,952...83,787,010
Ensembl chr13:83,721,300...83,787,018
JBrowse link
G Adsl adenylosuccinate lyase ISO SMPDB SMP:00364 NCBI chr 7:122,157,201...122,192,328
Ensembl chr 7:122,157,201...122,192,328
JBrowse link
G Adss adenylosuccinate synthase ISO SMPDB SMP:00364 NCBI chr13:95,913,426...95,943,761
Ensembl chr13:95,913,426...95,943,761
JBrowse link
G Ak1 adenylate kinase 1 ISO SMPDB SMP:00364 NCBI chr 3:11,652,143...11,659,135 JBrowse link
G Ampd1 adenosine monophosphate deaminase 1 ISO SMPDB SMP:00364 NCBI chr 2:205,568,934...205,589,961
Ensembl chr 2:205,568,935...205,590,021
JBrowse link
G Aprt adenine phosphoribosyl transferase ISO SMPDB SMP:00364 NCBI chr19:55,387,288...55,389,256
Ensembl chr19:55,387,288...55,389,256
JBrowse link
G Atad1 ATPase family, AAA domain containing 1 ISO SMPDB SMP:00364 NCBI chr 1:251,234,702...251,386,996
Ensembl chr 1:251,235,508...251,387,002
JBrowse link
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO SMPDB SMP:00364 NCBI chr 9:78,862,013...78,882,061
Ensembl chr 9:78,862,013...78,882,060
JBrowse link
G Dguok deoxyguanosine kinase ISO SMPDB SMP:00364 NCBI chr 4:115,180,433...115,208,061
Ensembl chr 4:115,180,433...115,208,061
JBrowse link
G Entpd5 ectonucleoside triphosphate diphosphohydrolase 5 ISO SMPDB SMP:00364 NCBI chr 6:108,087,677...108,123,811
Ensembl chr 6:108,087,418...108,120,579
JBrowse link
G Entpd8 ectonucleoside triphosphate diphosphohydrolase 8 ISO SMPDB SMP:00364 NCBI chr 3:2,286,363...2,299,720
Ensembl chr 3:2,288,667...2,302,782
JBrowse link
G Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase ISO SMPDB SMP:00364 NCBI chr11:31,780,477...31,805,728
Ensembl chr11:31,780,487...31,805,728
JBrowse link
G Gda guanine deaminase ISO SMPDB SMP:00364 NCBI chr 1:238,982,542...239,057,663
Ensembl chr 1:238,982,392...239,057,732
JBrowse link
G Gmpr guanosine monophosphate reductase ISO SMPDB SMP:00364 NCBI chr17:19,543,274...19,580,929
Ensembl chr17:19,543,275...19,580,929
JBrowse link
G Gmps guanine monophosphate synthase ISO SMPDB SMP:00364 NCBI chr 2:154,555,967...154,590,662
Ensembl chr 2:154,555,871...154,590,662
JBrowse link
G Gucy1a2 guanylate cyclase 1 soluble subunit alpha 2 ISO SMPDB SMP:00364 NCBI chr 8:408,001...899,851
Ensembl chr 8:408,001...899,974
JBrowse link
G Gucy1b1 guanylate cyclase 1 soluble subunit beta 1 ISO SMPDB SMP:00364 NCBI chr 2:180,976,939...181,026,001
Ensembl chr 2:180,976,939...181,026,024
JBrowse link
G Guk1 guanylate kinase 1 ISO SMPDB SMP:00364 NCBI chr10:45,535,617...45,552,455
Ensembl chr10:45,535,627...45,543,897
JBrowse link
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO SMPDB SMP:00364 NCBI chr  X:158,196,640...158,228,815
Ensembl chr  X:158,197,149...158,228,749
Ensembl chr  X:158,197,149...158,228,749
JBrowse link
G Impdh1 inosine monophosphate dehydrogenase 1 ISO SMPDB SMP:00364 NCBI chr 4:56,478,383...56,493,987
Ensembl chr 4:56,478,384...56,493,923
JBrowse link
G Itpa inosine triphosphatase ISO SMPDB SMP:00364 NCBI chr 3:123,209,611...123,221,266
Ensembl chr 3:123,209,608...123,221,269
JBrowse link
G Nme6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00364 NCBI chr 8:117,920,912...117,928,148
Ensembl chr 8:117,920,944...117,928,195
JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00364 NCBI chr 1:266,652,966...266,782,935
Ensembl chr 1:266,659,519...266,782,910
JBrowse link
G Nudt2 nudix hydrolase 2 ISO SMPDB SMP:00364 NCBI chr 5:57,845,819...57,860,658
Ensembl chr 5:57,845,819...57,860,658
JBrowse link
G Nudt5 nudix hydrolase 5 ISO SMPDB SMP:00364 NCBI chr17:76,387,027...76,410,309
Ensembl chr17:76,387,031...76,410,294
JBrowse link
G Paics phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase ISO SMPDB SMP:00364 NCBI chr14:33,563,884...33,580,944
Ensembl chr14:33,563,886...33,580,566
JBrowse link
G Pde10a phosphodiesterase 10A ISO SMPDB SMP:00364 NCBI chr 1:52,360,296...52,544,448
Ensembl chr 1:52,360,296...52,544,450
JBrowse link
G Pde4d phosphodiesterase 4D ISO SMPDB SMP:00364 NCBI chr 2:40,219,999...41,468,551
Ensembl chr 2:40,554,146...41,464,264
JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO SMPDB SMP:00364 NCBI chr10:55,571,881...55,593,384
Ensembl chr10:55,571,118...55,589,978
JBrowse link
G Pnp purine nucleoside phosphorylase ISO SMPDB SMP:00364 NCBI chr15:27,875,883...27,883,566
Ensembl chr15:27,875,911...27,883,350
JBrowse link
G Ppat phosphoribosyl pyrophosphate amidotransferase ISO SMPDB SMP:00364 NCBI chr14:33,580,541...33,614,919
Ensembl chr14:33,580,541...33,614,919
JBrowse link
G Prps1l1 phosphoribosyl pyrophosphate synthetase 1-like 1 ISO SMPDB SMP:00364 NCBI chr 6:54,417,903...54,419,593
Ensembl chr 6:54,417,903...54,419,593
JBrowse link
G Rrm1 ribonucleotide reductase catalytic subunit M1 ISO SMPDB SMP:00364 NCBI chr 1:167,538,387...167,562,688
Ensembl chr 1:167,538,263...167,562,688
JBrowse link
G Rrm2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00364 NCBI chr 6:43,884,627...43,890,818
Ensembl chr 6:43,884,678...43,889,515
JBrowse link
G Txn1 thioredoxin 1 ISO SMPDB SMP:00364 NCBI chr 5:75,049,735...75,057,731
Ensembl chr 5:75,049,747...75,057,752
JBrowse link
G Xdh xanthine dehydrogenase ISO SMPDB SMP:00364 NCBI chr 6:25,149,570...25,211,273
Ensembl chr 6:25,149,235...25,211,494
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 6103
    disease pathway 1957
      nervous system disease pathway 761
        brain disease pathway 350
          inborn error of brain metabolic pathway 319
            Lesch-Nyhan syndrome pathway 37
Path 2
Term Annotations click to browse term
  pathway 6103
    disease pathway 1957
      congenital disease pathway 529
        inborn genetic disease pathway 529
          inborn error of metabolism pathway 529
            inborn error of brain metabolic pathway 319
              Lesch-Nyhan syndrome pathway 37
paths to the root