{"Name":"Deficiency of hyaluronoglucosaminidase","DiseaseID__c":"GARD:0016675","id":16675,"encodedName":"deficiency-of-hyaluronoglucosaminidase","IsDeleted":false,"Disease_Name_Full__c":"Deficiency of hyaluronoglucosaminidase","Xref_IDs__c":"124473006; C129073; C1291490; C563209; DOID:0050809; MEDGEN:226942; MONDO:0011093; OMIM:601492; ORPHA:67041","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"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":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0011093","Disease_Description__c":"An autosomal recessive lysosomal storage disease caused by mutation(s) in the HYAL1 gene, encoding hyaluronidase-1. It is characterized by short stature and hyaluronidase deficiency.","GARD_Name__c":"Deficiency of hyaluronoglucosaminidase","GARD_Synonym__c":"deficiency of hyaluronidase; hyaluronidase deficiency; mps ix; mps9; mpsix; mucopolysaccharidosis type 9; mucopolysaccharidosis type ix","Curated_Disease_Description_Source__c":"ORPHA:67041","Curated_Disease_Description__c":"A rare form of mucopolysaccharidosis characterized by abnormal storage of hyaluronan in lysosomes due to deficiency of hyaluronidase 1. Clinical manifestations include knee and/or hip pain associated with swelling, diffuse joint involvement with proliferative synovitis and occurrence of multiple periarticular soft-tissue masses, short stature, and dysmorphic craniofacial features (such as flattened nasal bridge, bifid uvula, and cleft palate).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:67041","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011093","ORPHANET_ID__c":"ORPHA:67041","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia de hialuronidasa","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"deficiencia de hialuronidasa","Spanish_GARD_Synonym__c":"mps9; mpsix; mucopolisacaridosis tipo 9; mucopolisacaridosis tipo ix","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 form of mucopolysaccharidosis characterized by abnormal storage of hyaluronan in lysosomes due to deficiency of hyaluronidase 1. Clinical manifestations include knee and/or hip pain associated with swelling, diffuse joint involvement with proliferative synovitis and occurrence of multiple periarticular soft-tissue masses, short stature, and dysmorphic craniofacial features (such as flattened nasal bridge, bifid uvula, and cleft palate).","Curated_Disease_Description_Source__c":"ORPHA:67041","GARD_Synonym__c":"deficiency of hyaluronidase; hyaluronidase deficiency; mps ix; mps9; mpsix; mucopolysaccharidosis type 9; mucopolysaccharidosis type ix","Name":"Deficiency of hyaluronoglucosaminidase","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Society for Mucopolysaccharide Diseases","Website__c":"https://www.mpssociety.org.uk/"},{"Account_Name__c":"Canadian MPS Society for Mucopolysaccharide and Related Diseases","Website__c":"https://www.mpssociety.ca/"},{"Account_Name__c":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.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"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:67041"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1291490","Source__c":"C1291490","Xref__c":"C1291490"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=124473006","Source__c":"C1291490; MONDO:0011093","Xref__c":"124473006"},{"URL__c":"https://www.omim.org/entry/601492","Source__c":"C1291490; MONDO:0011093; ORPHA:67041","Xref__c":"OMIM:601492"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=226942","Source__c":"C1291490","Xref__c":"MEDGEN:226942"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563209","Source__c":"MONDO:0011093","Xref__c":"C563209"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C129073","Source__c":"C1291490; MONDO:0011093","Xref__c":"C129073"},{"URL__c":"https://www.orpha.net/en/disease/detail/67041","Source__c":"C1291490; MONDO:0011093; ORPHA:67041","Xref__c":"ORPHA:67041"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050809","Source__c":"MONDO:0011093","Xref__c":"DOID:0050809"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011093","Source__c":"GARD:0016675","Xref__c":"MONDO:0011093"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"HYAL1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:67041","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the acetabulum, i.e., the Acetabular part of hip bone, which together with the head of the femur forms the hip joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003170","HPO_Synonym__c":"Abnormality of the acetabulum; Abnormality of the hipbone socket; Acetabular abnormality","HPO_Name__c":"Abnormal acetabulum morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:67041","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism","Lysosomal"],"Disease Category":["Genetics","Inborn Errors of Metabolism","Congenital Abnormality","Lysosomal"],"Specialist":["Genetics","Ophthalmology","Orthopedics","Pediatrics"],"Account":["Lysosomal","Craniofacial Anomalies","Glaucoma"]},"synonyms":["deficiency of hyaluronidase"," hyaluronidase deficiency"," mps ix"," mps9"," mpsix"," mucopolysaccharidosis type 9"," mucopolysaccharidosis type ix"]}