{"Name":"Partial hypoxanthine-guanine phosphoribosyltransferase deficiency","DiseaseID__c":"GARD:0016710","id":16710,"encodedName":"partial-hypoxanthine-guanine-phosphoribosyltransferase-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Partial hypoxanthine-guanine phosphoribosyltransferase deficiency","Xref_IDs__c":"238007004; C0268117; C562583; DOID:0112127; MEDGEN:82770; MONDO:0010299; OMIM:300323; ORPHA:79233","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":6,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0010299","Disease_Description__c":"Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout.","GARD_Name__c":"Partial hypoxanthine-guanine phosphoribosyltransferase deficiency","GARD_Synonym__c":"gout, hprt-related; gout, hprt1-related; hprt deficiency, grade i; hprt deficiency, partial; hprt partial deficiency; hprt-related gout; hprt-related hyperuricemia; hprt1 deficiency, partial; hprt1 partial deficiency; hyperuricemia, hrpt-related, x-linked recessive; hypoxanthine guanine phosphoribosyltransferase 1 deficiency, partial; hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency; hypoxanthine guanine phosphoribosyltransferase deficiency, grade i; hypoxanthine guanine phosphoribosyltransferase partial deficiency; kelley-seegmiller syndrome; partial hgprt deficiency","Curated_Disease_Description_Source__c":"ORPHA:79233","Curated_Disease_Description__c":"Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:79233","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010299","ORPHANET_ID__c":"ORPHA:79233","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de kelley-seegmiller","Spanish_Description_Source__c":"ORPHA:79233","Spanish_Description__c":"El síndrome de Kelley-Seegmiller (KSS) es la forma más leve del déficit de Hipoxantina-guanina-fosforribosil-transferasa (HPRT), un trastorno hereditario del metabolismo de las purinas, asociado a la sobreproducción de ácido úrico (AU) que conduce a urolitiasis, y a la aparición temprana de gota.","Spanish_Disease_Name__c":"síndrome de kelley-seegmiller","Spanish_GARD_Synonym__c":"deficiencia de hipoxantina guanina fosforribosil transferasa, grado 1; deficiencia de hprt, grado 1; deficiencia parcial de hipoxantina guanina fosforribosil transferasa; deficiencia parcial de hipoxantina guanina fosforribosil transferasa 1; deficiencia parcial de hprt; deficiencia parcial de hprt1; gota asociada a hprt; hiperuricemia asociada a hprt","Category_Linearization__c":"ORPHA:93626","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":"Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout.","Curated_Disease_Description_Source__c":"ORPHA:79233","GARD_Synonym__c":"gout, hprt-related; gout, hprt1-related; hprt deficiency, grade i; hprt deficiency, partial; hprt partial deficiency; hprt-related gout; hprt-related hyperuricemia; hprt1 deficiency, partial; hprt1 partial deficiency; hyperuricemia, hrpt-related, x-linked recessive; hypoxanthine guanine phosphoribosyltransferase 1 deficiency, partial; hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency; hypoxanthine guanine phosphoribosyltransferase deficiency, grade i; hypoxanthine guanine phosphoribosyltransferase partial deficiency; kelley-seegmiller syndrome; partial hgprt deficiency","Name":"Partial hypoxanthine-guanine phosphoribosyltransferase deficiency","estimateUsa":""}],"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":"All ages","Provided_By__c":"ORPHA:79233"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1149","Source__c":"Gene Review","Xref__c":"NBK1149"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0268117","Source__c":"C0268117","Xref__c":"C0268117"},{"URL__c":"https://www.omim.org/entry/300323","Source__c":"C0268117; MONDO:0010299; ORPHA:79233","Xref__c":"OMIM:300323"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0112127","Source__c":"MONDO:0010299","Xref__c":"DOID:0112127"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=238007004","Source__c":"C0268117; MONDO:0010299","Xref__c":"238007004"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=82770","Source__c":"C0268117","Xref__c":"MEDGEN:82770"},{"URL__c":"https://www.orpha.net/en/disease/detail/79233","Source__c":"C0268117; MONDO:0010299; ORPHA:79233","Xref__c":"ORPHA:79233"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C562583","Source__c":"MONDO:0010299","Xref__c":"C562583"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010299","Source__c":"GARD:0016710","Xref__c":"MONDO:0010299"}],"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:79233","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001347","HPO_Synonym__c":"Increased deep tendon reflexes; Increased reflexes","HPO_Name__c":"Hyperreflexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79233","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally high level of uric acid in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003149","HPO_Synonym__c":"High urine uric acid level; Increased urinary urate","HPO_Name__c":"Hyperuricosuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79233","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001263","HPO_Synonym__c":"Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; GDD; Lack of psychomotor development; Motor and developmental delay; Motormental retardation; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development","HPO_Name__c":"Global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79233","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000707","HPO_Synonym__c":"Abnormality of the nervous system; Neurologic abnormalities; Neurological abnormality","HPO_Name__c":"Abnormality of the nervous system","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79233","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of uric acid-containing calculi (stones) in the kidneys.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000791","HPO_Synonym__c":"Uric acid stones; Uric acid urolithiasis","HPO_Name__c":"Uric acid nephrolithiasis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79233","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79233","HPO_Frequency__c":"Frequent (30-79%)","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:79233","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Painful or difficult urination.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100518","HPO_Synonym__c":"Painful or difficult urination","HPO_Name__c":"Dysuria","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79233","HPO_Frequency__c":"Occasional (5-29%)","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"}},{"Provided_By__c":"ORPHA:79233","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A nonspecific term referring to disease or damage of the kidneys.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000112","HPO_Name__c":"Nephropathy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79233","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001919","HPO_Synonym__c":"Acute kidney failure; Acute renal failure; AKI","HPO_Name__c":"Acute kidney injury","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79233","HPO_Frequency__c":"Occasional (5-29%)","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:79233","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79233","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"Deliberate harm to one's body resulting in tissue damage, without a conscious intent to die.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000742","HPO_Synonym__c":"Deliberate self-harm; Self mutilation; Self-mutilation","HPO_Name__c":"Self-mutilation","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79233","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An increased amount of creatinine in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003259","HPO_Synonym__c":"Elevated creatinine; Elevated serum creatinine; High blood creatinine level; Increased creatinine; Increased serum creatinine","HPO_Name__c":"Elevated circulating creatinine concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79233","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001332","HPO_Synonym__c":"Dystonic movements","HPO_Name__c":"Dystonia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79233","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002071","HPO_Synonym__c":"Extrapyramidal dysfunction; Extrapyramidal signs; Extrapyramidal symptoms; Extrapyramidal syndrome; Extrapyramidal tract signs","HPO_Name__c":"Abnormality of extrapyramidal motor function","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79233","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hematuria that is visible upon inspection of the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012587","HPO_Synonym__c":"Bloody urine; Gross hematuria","HPO_Name__c":"Macroscopic hematuria","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":["gout, hprt-related"," gout, hprt1-related"," hprt deficiency, grade i"," hprt deficiency, partial"," hprt partial deficiency"," hprt-related gout"," hprt-related hyperuricemia"," hprt1 deficiency, partial"," hprt1 partial deficiency"," hyperuricemia, hrpt-related, x-linked recessive"," hypoxanthine guanine phosphoribosyltransferase 1 deficiency, partial"," hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency"," hypoxanthine guanine phosphoribosyltransferase deficiency, grade i"," hypoxanthine guanine phosphoribosyltransferase partial deficiency"," kelley-seegmiller syndrome"," partial hgprt deficiency"]}