{"Name":"Winchester syndrome","DiseaseID__c":"GARD:0007894","id":7894,"encodedName":"winchester-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Winchester syndrome","Xref_IDs__c":"254151006; C0432289; C170731; C536709; DOID:0080696; MEDGEN:98152; MONDO:0010201; OMIM:277950","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"OMIM:277950","Disease_Description__c":"Winchester syndrome presents with severe osteolysis in the hands and feet and generalized osteoporosis and bone thinning, similar to multicentric osteolysis, nodulosis, and arthropathy (MONA; {259600}), but subcutaneous nodules are characteristically absent. Various additional features including coarse face, corneal opacities, gum hypertrophy, and EKG changes have been reported (summary by {12:Zankl et al., 2007}).","GARD_Name__c":"Winchester syndrome","GARD_Synonym__c":"mmp14-related multicentric osteolysis, nodulosis, and arthropathy; mona, mmp14-related; multicentric osteolysis, nodulosis and arthropathy, mmp14-related; wnchrs","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Winchester syndrome is a rare inherited disease characterized by a loss of bone tissue (osteolysis), particularly in the hands and feet. Winchester syndrome used to be considered part of a related condition now called multicentric osteolysis, nodulosis, and arthropathy (MONA). However, because Winchester syndrome and MONA are caused by mutations in different genes, they are now thought to be separate disorders. In most cases of Winchester syndrome, bone loss begins in the hands and feet, causing pain and limiting movement. Bone abnormalities later spread to other parts of the body, with joint problems (arthropathy) occurring in the elbows, shoulders, knees, hips, and spine. Most people with Winchester syndrome develop low bone mineral density (osteopenia) and thinning of the bones (osteoporosis) throughout the skeleton. These abnormalities make bones brittle and more prone to fracture. The bone abnormalities also lead to short stature. Some people with Winchester syndrome have skin abnormalities including patches of dark, thick, and leathery skin. Other features of the condition can include clouding of the clear front covering of the eye (corneal opacity), excess hair growth (hypertrichosis), overgrowth of the gums, heart abnormalities, and distinctive facial features that are described as 'coarse.'","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:277950","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010201","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":"Winchester syndrome is a rare inherited disease characterized by a loss of bone tissue (osteolysis), particularly in the hands and feet. Winchester syndrome used to be considered part of a related condition now called multicentric osteolysis, nodulosis, and arthropathy (MONA). However, because Winchester syndrome and MONA are caused by mutations in different genes, they are now thought to be separate disorders. In most cases of Winchester syndrome, bone loss begins in the hands and feet, causing pain and limiting movement. Bone abnormalities later spread to other parts of the body, with joint problems (arthropathy) occurring in the elbows, shoulders, knees, hips, and spine. Most people with Winchester syndrome develop low bone mineral density (osteopenia) and thinning of the bones (osteoporosis) throughout the skeleton. These abnormalities make bones brittle and more prone to fracture. The bone abnormalities also lead to short stature. Some people with Winchester syndrome have skin abnormalities including patches of dark, thick, and leathery skin. Other features of the condition can include clouding of the clear front covering of the eye (corneal opacity), excess hair growth (hypertrichosis), overgrowth of the gums, heart abnormalities, and distinctive facial features that are described as 'coarse.'","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"mmp14-related multicentric osteolysis, nodulosis, and arthropathy; mona, mmp14-related; multicentric osteolysis, nodulosis and arthropathy, mmp14-related; wnchrs","Name":"Winchester syndrome","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Society for Mucopolysaccharide Diseases","Website__c":"https://www.mpssociety.org.uk/"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0007894","Source__c":"RareSource"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080696","Source__c":"MONDO:0010201","Xref__c":"DOID:0080696"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0432289","Source__c":"C0432289","Xref__c":"C0432289"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=254151006","Source__c":"C0432289; MONDO:0010201","Xref__c":"254151006"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C170731","Source__c":"C0432289; MONDO:0010201","Xref__c":"C170731"},{"URL__c":"https://www.omim.org/entry/277950","Source__c":"C0432289; MONDO:0010201","Xref__c":"OMIM:277950"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=98152","Source__c":"C0432289","Xref__c":"MEDGEN:98152"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536709","Source__c":"MONDO:0010201","Xref__c":"C536709"},{"URL__c":"https://medlineplus.gov/genetics/condition/winchester-syndrome","Source__c":"GARD:0007894","Xref__c":"https://medlineplus.gov/genetics/condition/winchester-syndrome"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010201","Source__c":"GARD:0007894","Xref__c":"MONDO:0010201"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"MMP14","GHR_URL__c":"https://medlineplus.gov/genetics/gene/mmp14","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:277950","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Osteolysis affecting carpal bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001495","HPO_Synonym__c":"Carpal bone osteolysis","HPO_Name__c":"Carpal osteolysis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:277950","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003040","HPO_Synonym__c":"Disease of the joints","HPO_Name__c":"Arthropathy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:277950","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000280","HPO_Synonym__c":"Coarse face; Coarse facial appearance; Coarse facial features; Coarse facies","HPO_Name__c":"Coarse facial features","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:277950","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040160","HPO_Name__c":"Generalized osteoporosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:277950","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Exaggerated anterior convexity of the thoracic vertebral column.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002808","HPO_Synonym__c":"Gibbus deformity; Hunched back; Hyperkyphosis; Round back","HPO_Name__c":"Kyphosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:277950","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased resorption of bone matrix by osteoclasts leading to bony defects involving the tarsal bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006234","HPO_Synonym__c":"Tarsal bone osteolysis; Tarsal osteolysis","HPO_Name__c":"Osteolysis involving tarsal bones","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:277950","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001007","HPO_Synonym__c":"Excessive hairiness","HPO_Name__c":"Hirsutism","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:277950","Feature__r":{"HPO_Description__c":"Hyperplasia of the gingiva (that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000212","HPO_Synonym__c":"Gingival enlargement; Gingival hyperplasia; Gum enlargement; Gum hypertrophy; Hypertrophic gingivitis","HPO_Name__c":"Gingival overgrowth","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["mmp14-related multicentric osteolysis, nodulosis, and arthropathy"," mona, mmp14-related"," multicentric osteolysis, nodulosis and arthropathy, mmp14-related"," wnchrs"]}