{"Name":"Mucopolysaccharidosis","DiseaseID__c":"GARD:0007065","id":7065,"encodedName":"mucopolysaccharidosis","IsDeleted":false,"Disease_Name_Full__c":"Mucopolysaccharidosis","Xref_IDs__c":"11380006; C0026703; C61259; D009083; DOID:12798; MEDGEN:7733; MONDO:0019249; OMIMPS:607014; ORPHA:79213","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0019249","Disease_Description__c":"A group of autosomal recessive or X-linked inherited lysosomal storage disorders affecting the metabolism of mucopolysaccharides, resulting in the accumulation of mucopolysaccharides in the body. Signs and symptoms include organomegaly, mental retardation, abnormal skeletal development, heart disorders, hearing loss, and central nervous system deficiencies.","GARD_Name__c":"Mucopolysaccharidosis","GARD_Synonym__c":"mps - mucopolysaccharidosis; mucopolysaccharidoses","Curated_Disease_Description_Source__c":"GARD:0007065","Curated_Disease_Description__c":"Mucopolysaccharidosis refers to a group of inherited conditions in which the body is unable to properly breakdown mucopolysaccharides (long chains of sugar molecules that are found throughout the body). As a result, these sugars buildup in cells, blood and connective tissue which can lead to a variety of health problems. Associated signs and symptoms and the severity of the condition vary significantly by form. In general, most affected people appear healthy at birth and experience a period of normal development, followed by a decline in physical and/or mental function. As the condition progresses, it may affect appearance; physical abilities; organ and system functioning; and, in most cases, cognitive development. The underlying genetic cause varies by form. Most cases are inherited in an autosomal recessive manner, although one specific form (Type II) follows an X-linked pattern of inheritance.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:79213","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0019249","ORPHANET_ID__c":"ORPHA:79213","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Mucopolisacaridosis","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"mucopolisacaridosis","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":"Mucopolysaccharidosis refers to a group of inherited conditions in which the body is unable to properly breakdown mucopolysaccharides (long chains of sugar molecules that are found throughout the body). As a result, these sugars buildup in cells, blood and connective tissue which can lead to a variety of health problems. Associated signs and symptoms and the severity of the condition vary significantly by form. In general, most affected people appear healthy at birth and experience a period of normal development, followed by a decline in physical and/or mental function. As the condition progresses, it may affect appearance; physical abilities; organ and system functioning; and, in most cases, cognitive development. The underlying genetic cause varies by form. Most cases are inherited in an autosomal recessive manner, although one specific form (Type II) follows an X-linked pattern of inheritance.","Curated_Disease_Description_Source__c":"GARD:0007065","GARD_Synonym__c":"mps - mucopolysaccharidosis; mucopolysaccharidoses","Name":"Mucopolysaccharidosis","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Little People of America","Website__c":"https://www.lpaonline.org/"},{"Account_Name__c":"Lysosomal Storage Disorders Support Society","Website__c":"https://lsdssindia.org/"},{"Account_Name__c":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.org"},{"Account_Name__c":"Ben's Dream Sanfilippo Research Foundation","Website__c":"https://www.facebook.com/bensdream/"},{"Account_Name__c":"Cure Sanfilippo Foundation","Website__c":"https://curesanfilippofoundation.org/"},{"Account_Name__c":"Jonah's Just Begun - Foundation to Cure Sanfilippo, Inc","Website__c":"https://curesanfilippofoundation.org/"},{"Account_Name__c":"Sanfilippo Children's Foundation","Website__c":"https://www.sanfilippo.org.au/"},{"Account_Name__c":"Isaac Foundation","Website__c":"https://www.theisaacfoundation.com/"},{"Account_Name__c":"The Ryan Foundation","Website__c":"https://ryanfoundation.org/who-we-are"},{"Account_Name__c":"The Sanfilippo Children's Research Foundation","Website__c":"https://www.alifeforelisa.org/"},{"Account_Name__c":"Canadian MPS Society for Mucopolysaccharide and Related Diseases","Website__c":"https://www.mpssociety.ca/"},{"Account_Name__c":"National MPS Society","Website__c":"https://mpssociety.org/"},{"Account_Name__c":"Society for Mucopolysaccharide Diseases","Website__c":"https://www.mpssociety.org.uk/"},{"Account_Name__c":"Project Alive","Website__c":"https://projectalive.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":"Ophthalmology","Tag_Category__c":"Specialist"},{"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":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"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":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Craniofacial Anomalies","Tag_Category__c":"Account","curated_tag_name":"Craniofacial anomalies"},{"Tag_Name__c":"Glaucoma","Tag_Category__c":"Account","curated_tag_name":"Glaucoma"}],"Diagnosis__c":[{"Type__c":"NEWBORN","Category__c":"Other","Curie__c":"http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/MPS-I"},{"Type__c":"GTR","Curie__c":"MEDGEN:C0026703"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/79213","Source__c":"C0026703; MONDO:0019249; ORPHA:79213","Xref__c":"ORPHA:79213"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C009083","Source__c":"C0026703; MONDO:0019249","Xref__c":"D009083"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0026703","Source__c":"C0026703","Xref__c":"C0026703"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS607014","Source__c":"MONDO:0019249","Xref__c":"OMIMPS:607014"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C61259","Source__c":"C0026703; MONDO:0019249","Xref__c":"C61259"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=11380006","Source__c":"C0026703; MONDO:0019249","Xref__c":"11380006"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=7733","Source__c":"C0026703","Xref__c":"MEDGEN:7733"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A12798","Source__c":"MONDO:0019249","Xref__c":"DOID:12798"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019249","Source__c":"GARD:0007065","Xref__c":"MONDO:0019249"},{"URL__c":"https://www.ninds.nih.gov/health-information/disorders/mucopolysaccharidoses"}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism","Lysosomal"],"Disease Category":["Genetics","Inborn Errors of Metabolism","Congenital Abnormality","Lysosomal"],"Specialist":["Genetics","Ophthalmology","Orthopedics"],"Account":["Lysosomal","Craniofacial Anomalies","Glaucoma"]},"synonyms":["mps - mucopolysaccharidosis"," mucopolysaccharidoses"]}