{"Name":"Lesch-Nyhan syndrome","DiseaseID__c":"GARD:0007226","id":7226,"encodedName":"lesch-nyhan-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Lesch-Nyhan syndrome","Xref_IDs__c":"10406007; 423022220; C0023374; C61255; D007926; DOID:1919; E79.1; MEDGEN:9721; MONDO:0010298; OMIM:300322; ORPHA:510","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":6,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":2,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0010298","Disease_Description__c":"Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems.","GARD_Name__c":"Lesch-Nyhan syndrome","GARD_Synonym__c":"choreoathetosis self-mutilation syndrome; complete hgprt deficiency; complete hypoxanthine-guanine phosphoribosyltransferase deficiency; hg-prt deficiency; hgprt deficiency; hprt - hypoxanthine-guanine phosphoribosyltransferase deficiency; hprt complete deficiency; hprt deficiency grade iv; hprt deficiency, complete; hypoxanthine guanine phosphoribosyltransferase complete deficiency; hypoxanthine guanine phosphoribosyltransferase deficiency, grade iv; lesch - nyhan syndrome; lesch nyhan syndrome; lesch-nyhan disease; lesch-nyhan syndrome, x-linked recessive; lns; total hgprt deficiency; x-linked hyperuricemia; x-linked hyperuricemia (disorder) [ambiguous]","Curated_Disease_Description_Source__c":"GARD:0007226","Curated_Disease_Description__c":"Lesch-Nyhan syndrome is a condition that occurs almost exclusively in males. It is characterized by neurological and behavioral abnormalities and the overproduction of uric acid. Uric acid is a waste product of normal chemical processes and is found in blood and urine. Excess uric acid can be released from the blood and build up under the skin and cause gouty arthritis (arthritis caused by an accumulation of uric acid in the joints). Uric acid accumulation can also cause kidney and bladder stones. The nervous system and behavioral disturbances experienced by people with Lesch-Nyhan syndrome include abnormal involuntary muscle movements, such as tensing of various muscles (dystonia), jerking movements (chorea), and flailing of the limbs (ballismus). People with Lesch-Nyhan syndrome usually cannot walk, require assistance sitting, and generally use a wheelchair. Self-injury (including biting and head banging) is the most common and distinctive behavioral problem in individuals with Lesch-Nyhan syndrome.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"as an Infant","SourceID__c":"ORPHA:510","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0010298","ORPHANET_ID__c":"ORPHA:510","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de lesch-nyhan","Spanish_Description_Source__c":"ORPHA:510","Spanish_Description__c":"El síndrome de Lesch-Nyhan (LNS) es la forma más grave del déficit de la hipoxantina-guanina-fosforribosil-transferasa (HPRT), un trastorno hereditario del metabolismo de las purinas asociado con una sobreproducción de ácido úrico (AU), discapacidad neurológica y problemas de conducta.","Spanish_Disease_Name__c":"síndrome de lesch-nyhan","Spanish_GARD_Synonym__c":"deficiencia completa de hipoxantina guanina fosforribosiltransferasa; deficiencia completa de hprt; deficiencia de hipoxantina guanina fosforribosiltransferasa, grado 4; deficiencia de hprt, grado 4","Category_Linearization__c":"ORPHA:93890","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Lesch-Nyhan syndrome is a condition that occurs almost exclusively in males. It is characterized by neurological and behavioral abnormalities and the overproduction of uric acid. Uric acid is a waste product of normal chemical processes and is found in blood and urine. Excess uric acid can be released from the blood and build up under the skin and cause gouty arthritis (arthritis caused by an accumulation of uric acid in the joints). Uric acid accumulation can also cause kidney and bladder stones. The nervous system and behavioral disturbances experienced by people with Lesch-Nyhan syndrome include abnormal involuntary muscle movements, such as tensing of various muscles (dystonia), jerking movements (chorea), and flailing of the limbs (ballismus). People with Lesch-Nyhan syndrome usually cannot walk, require assistance sitting, and generally use a wheelchair. Self-injury (including biting and head banging) is the most common and distinctive behavioral problem in individuals with Lesch-Nyhan syndrome.","Curated_Disease_Description_Source__c":"GARD:0007226","GARD_Synonym__c":"choreoathetosis self-mutilation syndrome; complete hgprt deficiency; complete hypoxanthine-guanine phosphoribosyltransferase deficiency; hg-prt deficiency; hgprt deficiency; hprt - hypoxanthine-guanine phosphoribosyltransferase deficiency; hprt complete deficiency; hprt deficiency grade iv; hprt deficiency, complete; hypoxanthine guanine phosphoribosyltransferase complete deficiency; hypoxanthine guanine phosphoribosyltransferase deficiency, grade iv; lesch - nyhan syndrome; lesch nyhan syndrome; lesch-nyhan disease; lesch-nyhan syndrome, x-linked recessive; lns; total hgprt deficiency; x-linked hyperuricemia; x-linked hyperuricemia (disorder) [ambiguous]","Name":"Lesch-Nyhan syndrome","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Love Never Sinks","Website__c":"https://loveneversinks.org/"},{"Account_Name__c":"Lesch-Nyhan Dedicated Advocates","Website__c":"https://lesch-nyhan.com/"},{"Account_Name__c":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.org"},{"Account_Name__c":"Lesch-Nyhan Disease International Study Group","Website__c":"http://www.lesch-nyhan.org"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Nephrology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Kidney diseases affect the kidneys' ability to remove waste and water from blood, create urine, or make certain hormones.","curated_tag_name":"Kidney diseases"},{"Tag_Name__c":"Hematology","Tag_Category__c":"Disease Category;Specialist","category_description":"Blood diseases affect the blood or blood-forming organs, including red blood cells, white blood cells, platelets, plasma, and bone marrow.","curated_tag_name":"Blood diseases"},{"Tag_Name__c":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"},{"Tag_Name__c":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:510"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0023374"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0007226","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1149","Source__c":"Gene Review","Xref__c":"NBK1149"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C61255","Source__c":"C0023374; MONDO:0010298","Xref__c":"C61255"},{"URL__c":"https://www.omim.org/entry/300322","Source__c":"C0023374; MONDO:0010298; ORPHA:510","Xref__c":"OMIM:300322"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=9721","Source__c":"C0023374","Xref__c":"MEDGEN:9721"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A1919","Source__c":"MONDO:0010298","Xref__c":"DOID:1919"},{"URL__c":"https://www.orpha.net/en/disease/detail/510","Source__c":"C0023374; MONDO:0010298; ORPHA:510","Xref__c":"ORPHA:510"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=10406007","Source__c":"C0023374; MONDO:0010298","Xref__c":"10406007"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/E79.1","Source__c":"MONDO:0010298","Xref__c":"E79.1"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0023374","Source__c":"C0023374","Xref__c":"C0023374"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C007926","Source__c":"C0023374; MONDO:0010298","Xref__c":"D007926"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010298","Source__c":"GARD:0007226","Xref__c":"MONDO:0010298"},{"URL__c":"https://medlineplus.gov/genetics/condition/lesch-nyhan-syndrome","Source__c":"GARD:0007226","Xref__c":"https://medlineplus.gov/genetics/condition/lesch-nyhan-syndrome"},{"URL__c":"https://secure.ssa.gov/apps10/poms.nsf/lnx/0423022220","Xref__c":"423022220"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"HPRT1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/hprt1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:510","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduction in erythrocytes volume or hemoglobin concentration.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001903","HPO_Synonym__c":"Anaemia; Low number of red blood cells or hemoglobin","HPO_Name__c":"Anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:510","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000083","HPO_Synonym__c":"Renal failure; Renal failure in adulthood","HPO_Name__c":"Renal insufficiency","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:510","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001257","HPO_Synonym__c":"Involuntary muscle stiffness, contraction, or spasm; Muscle spasticity; Muscular spasticity","HPO_Name__c":"Spasticity","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:510","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Moderate intellectual disability (ID) is defined as a type of ID characterized by moderately sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 35-49.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002342","HPO_Synonym__c":"Intellectual disability, moderate; IQ between 34 and 49; Mental retardation, moderate; Moderate mental deficiency; Moderate mental retardation","HPO_Name__c":"Moderate intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:510","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001256","HPO_Synonym__c":"Intellectual disability, mild; Mental retardation, borderline-mild; Mild and nonprogressive mental retardation; Mild mental retardation","HPO_Name__c":"Mild intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:510","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100022","HPO_Synonym__c":"Abnormality of movement; Movement disorder; Unusual movement","HPO_Name__c":"Abnormality of movement","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:510","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000790","HPO_Synonym__c":"Blood in urine","HPO_Name__c":"Hematuria","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:510","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Atypical behavior is an abnormality in a person's actions that can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000708","HPO_Synonym__c":"Behavioral abnormality; Behavioral changes; Behavioral disorders; Behavioral disturbances; Behavioral problems; Behavioral symptoms; Behavioral/psychiatric abnormalities; Behavioural symptoms; Behavioural/Psychiatric abnormality; Psychiatric disorders; Psychiatric disturbances","HPO_Name__c":"Atypical behavior","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:510","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally high level of uric acid in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002149","HPO_Synonym__c":"High blood uric acid level; Hyperuricaemia","HPO_Name__c":"Hyperuricemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:510","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004374","HPO_Synonym__c":"Paralysis or weakness of one side of body","HPO_Name__c":"Hemiplegia/hemiparesis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:510","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Recurrent attacks of acute inflammatory arthritis of a joint or set of joints caused by elevated levels of uric acid in the blood which crystallize and are deposited in joints, tendons, and surrounding tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001997","HPO_Synonym__c":"Gouty arthritis","HPO_Name__c":"Gout","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Neurology","Nephrology","Hematology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Neurology","Nephrology","Hematology","Neurodevelopmental disabilities","Pediatrics"],"Account":["Nephrology"]},"synonyms":["choreoathetosis self-mutilation syndrome"," complete hgprt deficiency"," complete hypoxanthine-guanine phosphoribosyltransferase deficiency"," hg-prt deficiency"," hgprt deficiency"," hprt - hypoxanthine-guanine phosphoribosyltransferase deficiency"," hprt complete deficiency"," hprt deficiency grade iv"," hprt deficiency, complete"," hypoxanthine guanine phosphoribosyltransferase complete deficiency"," hypoxanthine guanine phosphoribosyltransferase deficiency, grade iv"," lesch - nyhan syndrome"," lesch nyhan syndrome"," lesch-nyhan disease"," lesch-nyhan syndrome, x-linked recessive"," lns"," total hgprt deficiency"," x-linked hyperuricemia"," x-linked hyperuricemia (disorder) [ambiguous]"]}