{"Name":"Phosphoribosylpyrophosphate synthetase deficiency","DiseaseID__c":"GARD:0025858","id":25858,"encodedName":"phosphoribosylpyrophosphate-synthetase-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Phosphoribosylpyrophosphate synthetase deficiency","Xref_IDs__c":"124343001; C1291401; C535995; C537897; MEDGEN:220944; MONDO:0043176; NBK2591","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":0,"Disease_Characteristics_Score__c":0,"No_of_Age_at_Onset__c":0,"Description_Source__c":null,"Disease_Description__c":null,"GARD_Name__c":"Phosphoribosylpyrophosphate synthetase deficiency","GARD_Synonym__c":"deafness hyperuricemia neurologic ataxia; deficiency of ribose-phosphate pyrophosphokinase","Curated_Disease_Description_Source__c":null,"Curated_Disease_Description__c":"Phosphoribosylpyrophosphate synthetase (PRS) deficiency is a rare inherited condition that affects how the body’s cells make and manage important building blocks needed for normal nerve function. Caused by changes in a single gene on the X chromosome (PRPS1), PRS deficiency is best thought of as a spectrum of related disorders rather than one single disease. This spectrum includes what were once considered separate conditions, such as Arts syndrome, Charcot‑Marie‑Tooth neuropathy type X5, and certain forms of inherited hearing loss. People with PRS deficiency—most often males, though females can also be affected—may have combinations of hearing loss, problems with movement or balance, muscle weakness, peripheral nerve damage, learning difficulties, vision problems due to optic nerve or retinal involvement, and increased susceptibility to infections. Symptoms can range from severe and early‑onset to milder forms that appear later in life. Because the features overlap and vary widely between individuals, PRS deficiency is now understood as a continuum of neurological and sensory problems linked by a shared genetic cause.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":null,"Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0043176","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Phosphoribosylpyrophosphate synthetase (PRS) deficiency is a rare inherited condition that affects how the body’s cells make and manage important building blocks needed for normal nerve function. Caused by changes in a single gene on the X chromosome (PRPS1), PRS deficiency is best thought of as a spectrum of related disorders rather than one single disease. This spectrum includes what were once considered separate conditions, such as Arts syndrome, Charcot‑Marie‑Tooth neuropathy type X5, and certain forms of inherited hearing loss. People with PRS deficiency—most often males, though females can also be affected—may have combinations of hearing loss, problems with movement or balance, muscle weakness, peripheral nerve damage, learning difficulties, vision problems due to optic nerve or retinal involvement, and increased susceptibility to infections. Symptoms can range from severe and early‑onset to milder forms that appear later in life. Because the features overlap and vary widely between individuals, PRS deficiency is now understood as a continuum of neurological and sensory problems linked by a shared genetic cause.","GARD_Synonym__c":"deafness hyperuricemia neurologic ataxia; deficiency of ribose-phosphate pyrophosphokinase","Name":"Phosphoribosylpyrophosphate synthetase deficiency","estimateUsa":""}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535995","Source__c":"MONDO:0043176","Xref__c":"C535995"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1291401","Source__c":"C1291401","Xref__c":"C1291401"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=220944","Source__c":"C1291401","Xref__c":"MEDGEN:220944"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537897","Source__c":"MONDO:0043176","Xref__c":"C537897"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=124343001","Source__c":"C1291401; MONDO:0043176","Xref__c":"124343001"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0043176","Source__c":"GARD:0025858","Xref__c":"MONDO:0043176"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK2591","Source__c":"Gene Review","Xref__c":"NBK2591"}],"tags":{},"synonyms":["deafness hyperuricemia neurologic ataxia"," deficiency of ribose-phosphate pyrophosphokinase"]}