{"Name":"ASAH1-related sphingolipidosis","DiseaseID__c":"GARD:0026262","id":26262,"encodedName":"asah1-related-sphingolipidosis","IsDeleted":false,"Disease_Name_Full__c":"ASAH1-related sphingolipidosis","Xref_IDs__c":"CN375562; MEDGEN:1051995; MONDO:0100524; NBK488189","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":1,"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":1,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0100524","Disease_Description__c":"A spectrum of disorders that includes Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy. Both disorders are caused by mutations in the ASAH1 gene that encodes the lysosomal hydrolase that breaks down the bioactive lipid, ceramide.","GARD_Name__c":"ASAH1-related sphingolipidosis","GARD_Synonym__c":"asah1-related disorders","Curated_Disease_Description_Source__c":"MONDO:0100524","Curated_Disease_Description__c":"A spectrum of disorders caused by variation(s) in the ASAH1 genel this spectrum includes Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy. The ASAH1 gene encodes the lysosomal hydrolase that breaks down the bioactive lipid, ceramide.","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 Grouping","MONDO_ID__c":"MONDO:0100524","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":"A spectrum of disorders caused by variation(s) in the ASAH1 genel this spectrum includes Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy. The ASAH1 gene encodes the lysosomal hydrolase that breaks down the bioactive lipid, ceramide.","Curated_Disease_Description_Source__c":"MONDO:0100524","GARD_Synonym__c":"asah1-related disorders","Name":"ASAH1-related sphingolipidosis","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":"Lysosomal","Tag_Category__c":"Account;Cause;Disease Category","category_description":"Lysosomal storage diseases are a group of genetic metabolic diseases that affect the ability of the body's cells to break down substances and remove toxins.","curated_tag_name":"Lysosomal storage diseases"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1051995","Source__c":"CN375562","Xref__c":"MEDGEN:1051995"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0100524","Source__c":"GARD:0026262","Xref__c":"MONDO:0100524"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/CN375562","Source__c":"CN375562","Xref__c":"CN375562"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK488189","Source__c":"Gene Review","Xref__c":"NBK488189"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ASAH1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/asah1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"tags":{"Cause":["Genetics","Lysosomal"],"Disease Category":["Genetics","Lysosomal"],"Specialist":["Genetics"],"Account":["Lysosomal"]},"synonyms":["asah1-related disorders"]}