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Lesch-Nyhan Syndrome (CUI C0023374) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0023374

NCI Thesaurus Code: C61255  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: An X-linked inherited syndrome caused by mutations in the gene that encodes the enzyme hypoxanthine-guanine phosphoribosyltransferase, resulting in accumulation of uric acid in the body. It affects males and is characterized by neurologic defects, moderate mental retardation, muscle hypotonia, and a tendency for self-mutilation (self-biting of lips, tongue, and fingertips).

GARD Definition: Lesch Nyhan syndrome is a condition characterized by neurological and behavioral abnormalities and the overproduction of uric acid in the body. It occurs almost exclusively in males. Signs and symptoms may include inflammatory arthritis (gout), kidney stones, bladder stones, and moderate cognitive disability. Nervous system and behavioral disturbances also occur, such as involuntary muscle movements and self injury (including biting and head banging). People with Lesch Nyhan syndrome usually cannot walk, require assistance sitting, and generally use a wheelchair. Lesch Nyhan syndrome is caused by changes (mutations) in the HPRT1 gene and is inherited in an X-linked recessive manner. Treatment is symptomatic and supportive. Affected people often do not survive past the first or second decade of life due to renal failure. - this information is from GARD/ORDR/NCATS.

CSP Definition: rare x-linked disorder of purine metabolism, due to deficiency of 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.

MSH 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 & Abbreviations: (see Synonym Details)
Choreoathetosis Self Mutilation Hyperuricemia Syndrome
Choreoathetosis Self Mutilation Syndrome
Choreoathetosis Self-Mutilation Hyperuricemia Syndrome
Choreoathetosis Self-Mutilation Syndromes
Choreoathetosis Self-Mutilation Syndrome
COMPLETE HGPRT DEFIC DIS
Complete HGPRT Deficiency Disease
Complete HGPRT deficiency
Complete HPRT Deficiencies
Complete HPRT Deficiency
Complete Hypoxanthine Guanine Phosphoribosyltransferase Deficiency
Complete Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency
DEFIC DIS COMPLETE HGPRT
DEFIC DIS HYPOXANTHINE PHOSPHORIBOSYL TRANSFERASE
Deficiencies, Complete HPRT
Deficiencies, HGPRT
Deficiencies, Hypoxanthine Phosphoribosyltransferase
Deficiencies, Total HPRT
Deficiency Disease, Complete HGPRT
Deficiency Disease, Hypoxanthine Phosphoribosyl Transferase
Deficiency Disease, Hypoxanthine-Phosphoribosyl-Transferase
Deficiency Diseases, Hypoxanthine-Phosphoribosyl-Transferase
Deficiency of Guanine Phosphoribosyltransferase
Deficiency of hypoxanthine phosphoribosyltransferase (disorder)
Deficiency of Hypoxanthine Phosphoribosyltransferase
Deficiency of hypoxanthine-guanine phosphoribosyltransferase
Deficiency of IMP pyrophosphorylase
Deficiency, Complete HPRT
Deficiency, HGPRT
Deficiency, Hypoxanthine Phosphoribosyltransferase
Deficiency, Total HPRT
Guanine Phosphoribosyltransferase Deficiencies
Guanine Phosphoribosyltransferase Deficiency
HEREDITARY HYPERURICEMIA
HG-PRT deficiency
HGPRT DEFIC DIS COMPLETE
HGPRT Deficiencies
HGPRT Deficiency Disease, Complete
HGPRT deficiency
HPRT - Hypoxanthine-guanine phosphoribosyltransferase deficiency
HPRT complete deficiency
HPRT Deficiencies, Complete
HPRT Deficiencies, Total
HPRT deficiency grade IV
HPRT deficiency, complete
HPRT Deficiency, Total
HPRT deficiency
HPRT1 deficiency
Hyperuricemia Syndrome, Juvenile
Hyperuricemia Syndrome, Primary
Hyperuricemia Syndromes, Juvenile
Hyperuricemia Syndromes, Primary
HYPERURICEMIA, CHOREOATHETOSIS, SELF-MUTILATION SYNDROME
Hyperuricemia, X-Linked Primary
Hyperuricemia, X-Linked
Hyperuricemias, X-Linked Primary
Hyperuricemias, X-Linked
Hypoxanthine guanine phospho-ribosyltransferase 1 deficiency
Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency
Hypoxanthine guanine phosphoribosyltransferase complete deficiency
Hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV
hypoxanthine guanine phosphoribosyltransferase deficiency
HYPOXANTHINE PHOSPHORIBOSYL TRANSFERASE DEFIC DIS
Hypoxanthine Phosphoribosyl Transferase Deficiency Disease
Hypoxanthine Phosphoribosyltransferase Deficiencies
Hypoxanthine Phosphoribosyltransferase Deficiency
Hypoxanthine-guanine phosphoribosyltransferase 1 deficiency
Hypoxanthine-guanine phosphoribosyltransferase deficiency
Hypoxanthine-guanine-phosphoribosyltransferase deficiency
Hypoxanthine-Phosphoribosyl-Transferase Deficiency Diseases
Hypoxanthine-Phosphoribosyl-Transferase Deficiency Disease
JUVENILE GOUT, CHOREOATHETOSIS, MENTAL RETARDATION SYNDROME
Juvenile Hyperuricemia Syndromes
Juvenile Hyperuricemia Syndrome
Lesch Nyhan disease
LESCH NYHAN DIS
Lesch Nyhan syndrome
Lesch-Nyhan Disease
Lesch-Nyhan syndrome (disorder)
Lesch-Nyhan Syndrome [Disease/Finding]
LESCH-NYHAN SYNDROME
LNS
NYHAN SYNDROME
Phosphoribosyltransferase Deficiencies, Guanine
Phosphoribosyltransferase Deficiencies, Hypoxanthine
Phosphoribosyltransferase Deficiency, Guanine
Phosphoribosyltransferase Deficiency, Hypoxanthine
Primary Hyperuricemia Syndromes
Primary Hyperuricemia Syndrome
Primary Hyperuricemia, X-Linked
Primary Hyperuricemias, X-Linked
Self-Mutilation Syndrome, Choreoathetosis
Self-Mutilation Syndromes, Choreoathetosis
Syndrome, Choreoathetosis Self-Mutilation
Syndrome, Juvenile Hyperuricemia
Syndrome, Primary Hyperuricemia
Syndromes, Choreoathetosis Self-Mutilation
Syndromes, Juvenile Hyperuricemia
Syndromes, Primary Hyperuricemia
Total HGPRT deficiency
Total HPRT Deficiencies
Total HPRT Deficiency
Total Hypoxanthine Guanine Phosphoribosyl Transferase Deficiency
Total hypoxanthine-guanine phosphoribosyl transferase deficiency
X Linked Hyperuricemia
X Linked Primary Hyperuricemia
X-linked hyperuricaemia
X-Linked Hyperuricemias
X-Linked Hyperuricemia
X-Linked Primary Hyperuricemias
X-Linked Primary Hyperuricemia

External Source Codes: 
NCI Thesaurus Code C61255 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
AQL BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI MSH
CASE_SIGNIFICANCE_ID 900000000000017005 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000020002 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000448009 SNOMEDCT_US
CTV3ID X40UY SNOMEDCT_US
CTV3ID XU6AJ SNOMEDCT_US
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_CREATED 2015-01-13T00:01:00 GARD
DATE_CREATED 2015-01-22T00:04:00 GARD
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DATE_LAST_MODIFIED 2015-01-13T00:01:00 GARD
DC 1 MSH
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DID 1849-8105 CSP
DISEASE_IDENTIFIER_ID 24276 GARD
DISEASE_IDENTIFIER_ID 31256 GARD
DISEASE_IDENTIFIER_ID 31257 GARD
DISEASE_IDENTIFIER_ID 31258 GARD
DISEASE_IDENTIFIER_ID 31259 GARD
DISEASE_IDENTIFIER_ID 33213 GARD
DISEASE_IDENTIFIER_ID 33214 GARD
DISEASE_IDENTIFIER_ID 33215 GARD
DISEASE_IDENTIFIER_ID 33216 GARD
DISEASE_IDENTIFIER_ID 5060 GARD
DISEASE_IDENTIFIER_ID 5061 GARD
DISEASE_IDENTIFIER_ID 5062 GARD
DISEASE_IDENTIFIER_ID 5063 GARD
DISEASE_IDENTIFIER_ID 5064 GARD
DISEASE_IDENTIFIER_ID 5065 GARD
DX 19730101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
FX D007041 MSH
GENELOCUS ,X,q,2,6,-,q,2,7,.,2, OMIM
GENESYMBOL HPRT1 OMIM
GENESYMBOL HPRT OMIM
HAS_GARD_PAGE true GARD
HN 1973(1971) MSH
IAN DEFAULT ICD10
IDENTIFIER_SOURCE Med GARD
IDENTIFIER_SOURCE Orp GARD
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
LAST_REVIEW_ACTION Modified GARD
LAST_REVIEW_DATE 2009-01-19T00:00:00 GARD
MDA 19990101 MSH
MESH_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) NDFRT
MESH_DUI D007926 NDFRT
MESH_NAME Lesch-Nyhan Syndrome NDFRT
MESH_UI M0012368 NDFRT
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MMR 20150623 MSH
MN C10.228.140.163.100.425 MSH
MN C10.597.606.643.455.625 MSH
MN C16.320.322.500.625 MSH
MN C16.320.400.525.625 MSH
MN C16.320.565.189.425 MSH
MN C16.320.565.798.594 MSH
MN C18.452.132.100.425 MSH
MN C18.452.648.189.425 MSH
MN C18.452.648.798.594 MSH
NDFRT_KIND DISEASE_KIND NDFRT
NUI N0000001813 NDFRT
ORDER_NO 04696 ICD10CM
PM 1973 MSH
PT_IN_VERSION 10.0 MDR
PT_IN_VERSION 10.1 MDR
PT_IN_VERSION 11.0 MDR
PT_IN_VERSION 11.1 MDR
PT_IN_VERSION 12.0 MDR
PT_IN_VERSION 12.1 MDR
PT_IN_VERSION 13.0 MDR
PT_IN_VERSION 13.1 MDR
PT_IN_VERSION 14.0 MDR
PT_IN_VERSION 14.1 MDR
PT_IN_VERSION 15.0 MDR
PT_IN_VERSION 15.1 MDR
PT_IN_VERSION 16.0 MDR
PT_IN_VERSION 16.1 MDR
PT_IN_VERSION 17.0 MDR
PT_IN_VERSION 17.1 MDR
PT_IN_VERSION 8.0 MDR
PT_IN_VERSION 8.1 MDR
PT_IN_VERSION 9.0 MDR
PT_IN_VERSION 9.1 MDR
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/2943/hypoxanthine-guanine-phosphoribosyltransferase-deficiency/resources/1 GARD
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/6627/hereditary-hyperuricemia/resources/1 GARD
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/7226/lesch-nyhan-syndrome/resources/1 GARD
RXAUI 3133142 RXNORM
RXAUI 3134946 RXNORM
RXAUI 3144806 RXNORM
RXAUI 3144828 RXNORM
RXAUI 3168473 RXNORM
RXAUI 3175002 RXNORM
RXAUI 3188680 RXNORM
RXAUI 3188681 RXNORM
RXAUI 3188682 RXNORM
RXAUI 3605904 RXNORM
RXAUI 5930561 RXNORM
RXAUI 5930592 RXNORM
RXAUI 5930593 RXNORM
RXAUI 5930699 RXNORM
RXAUI 5930700 RXNORM
RXAUI 5931063 RXNORM
RXAUI 5931182 RXNORM
RXAUI 5931183 RXNORM
RXAUI 5931280 RXNORM
RXAUI 5931284 RXNORM
RXAUI 5932050 RXNORM
RXAUI 5932368 RXNORM
RXAUI 5932369 RXNORM
RXAUI 5932462 RXNORM
RXAUI 5932463 RXNORM
RXCUI 1022940 RXNORM
SMQ_TERM_ADDVERSION 10.0 MDR
SMQ_TERM_ADDVERSION 18.0 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 5 MDR
SMQ_TERM_LMVERSION 14.0 MDR
SMQ_TERM_LMVERSION 18.0 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_WEIGHT 0 MDR
SNOMED_CID 10406007 NDFRT
SNOMED_CID 124275001 NDFRT
SNOMED_CID 267451005 NDFRT
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS E79.1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~E79.1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS E79.1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~E79.1 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~X40UY SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~XU6AJ SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
TERMUI T023610 MSH
TERMUI T368917 MSH
TERMUI T368918 MSH
TERMUI T368919 MSH
TERMUI T368920 MSH
TERMUI T368921 MSH
TERMUI T368922 MSH
TERMUI T368923 MSH
TERMUI T752854 MSH
TERMUI T841900 MSH
TERMUI T841902 MSH
TERMUI T841903 MSH
TERMUI T841904 MSH
TERMUI T841906 MSH
TERMUI T841907 MSH
TERMUI T841908 MSH
TERMUI T841909 MSH
TERMUI T841910 MSH
TERMUI T841912 MSH
TERMUI T841913 MSH
TERMUI T841914 MSH
TERMUI T844339 MSH
TERMUI T844340 MSH
TERMUI T844341 MSH
TH GHR (2014) MSH
TH NLM (1971) MSH
TH NLM (2000) MSH
TH NLM (2010) MSH
TH NLM (2014) MSH
TH OMIM (2013) MSH
TH ORD (2010) MSH
TYPE_ID 900000000000003001 SNOMEDCT_US
TYPE_ID 900000000000013009 SNOMEDCT_US

Additional Concept Data:  (none)

URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C0023374

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