{"Name":"Acid phosphatase deficiency","DiseaseID__c":"GARD:0016636","id":16636,"encodedName":"acid-phosphatase-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Acid phosphatase deficiency","Xref_IDs__c":"57863006; C0268410; C562645; MEDGEN:78674; MONDO:0008705; OMIM:200950; ORPHA:35121","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:35121","Disease_Description__c":"A rare lysosomal disease characterized by intermittent vomiting, hypotonia, lethargy, opisthotonos, and fatal outcome in early infancy, associated with deficient acid phosphatase in lysosomes. There have been no further descriptions in the literature since 1971.","GARD_Name__c":"Acid phosphatase deficiency","GARD_Synonym__c":"lysosomal acid phosphatase deficiency","Curated_Disease_Description_Source__c":"ORPHA:35121","Curated_Disease_Description__c":"A rare lysosomal disease characterized by intermittent vomiting, hypotonia, lethargy, opisthotonos, and fatal outcome in early infancy, associated with deficient acid phosphatase in lysosomes.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:35121","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008705","ORPHANET_ID__c":"ORPHA:35121","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia de fosfatasa ácida lisosomal","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"deficiencia de fosfatasa ácida lisosomal","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:68367","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 rare lysosomal disease characterized by intermittent vomiting, hypotonia, lethargy, opisthotonos, and fatal outcome in early infancy, associated with deficient acid phosphatase in lysosomes.","Curated_Disease_Description_Source__c":"ORPHA:35121","GARD_Synonym__c":"lysosomal acid phosphatase deficiency","Name":"Acid phosphatase deficiency","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"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":"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"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:35121"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:35121"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0268410","Source__c":"C0268410","Xref__c":"C0268410"},{"URL__c":"https://www.orpha.net/en/disease/detail/35121","Source__c":"C0268410; MONDO:0008705; ORPHA:35121","Xref__c":"ORPHA:35121"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=57863006","Source__c":"C0268410; MONDO:0008705","Xref__c":"57863006"},{"URL__c":"https://www.omim.org/entry/200950","Source__c":"C0268410; MONDO:0008705; ORPHA:35121","Xref__c":"OMIM:200950"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=78674","Source__c":"C0268410","Xref__c":"MEDGEN:78674"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C562645","Source__c":"MONDO:0008705","Xref__c":"C562645"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008705","Source__c":"GARD:0016636","Xref__c":"MONDO:0008705"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ACP2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism","Lysosomal"],"Disease Category":["Genetics","Inborn Errors of Metabolism","Lysosomal"],"Specialist":["Genetics","Pediatrics"],"Account":["Lysosomal"]},"synonyms":["lysosomal acid phosphatase deficiency"]}