{"Name":"Familial expansile osteolysis","DiseaseID__c":"GARD:0009168","id":9168,"encodedName":"familial-expansile-osteolysis","IsDeleted":false,"Disease_Name_Full__c":"Familial expansile osteolysis","Xref_IDs__c":"254153009; C0432292; C536335; DOID:0111542; MEDGEN:96593; MONDO:0008275; OMIM:174810; ORPHA:85195","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":3,"Description_Source__c":"ORPHA:85195","Disease_Description__c":"A rare primary bone dysplasia characterized by abnormal bone metabolism with bone pain, deformity, pathological fractures, early conductive hearing loss, and dental abnormalities. Focal bone lesions are typically found in the appendicular skeleton and consist of progressively expanding lytic areas, while generalized disordered bone modeling and altered trabecular pattern are the result of the multifocal, progressive nature of the disease. Age of onset is variable, mode of inheritance is autosomal dominant.","GARD_Name__c":"Familial expansile osteolysis","GARD_Synonym__c":"feo; hereditary expansile polyostotic osteolytic dysplasia; mccabe disease; polyostotic osteolytic dysplasia, hereditary expansile","Curated_Disease_Description_Source__c":"ORPHA:85195","Curated_Disease_Description__c":"A rare primary bone dysplasia characterized by abnormal bone metabolism with bone pain, deformity, pathological fractures, early conductive hearing loss, and dental abnormalities. Focal bone lesions are typically found in the appendicular skeleton and consist of progressively expanding lytic areas, while generalized disordered bone modeling and altered trabecular pattern are the result of the multifocal, progressive nature of the disease. Age of onset is variable, mode of inheritance is autosomal dominant.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"from Childhood to Adulthood","SourceID__c":"ORPHA:85195","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008275","ORPHANET_ID__c":"ORPHA:85195","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Osteólisis expansiva familiar","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"osteólisis expansiva familiar","Spanish_GARD_Synonym__c":"displasia poliostótica osteolítica expansiva hereditaria; enfermedad de mccabe","Category_Linearization__c":"ORPHA:93419","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 primary bone dysplasia characterized by abnormal bone metabolism with bone pain, deformity, pathological fractures, early conductive hearing loss, and dental abnormalities. Focal bone lesions are typically found in the appendicular skeleton and consist of progressively expanding lytic areas, while generalized disordered bone modeling and altered trabecular pattern are the result of the multifocal, progressive nature of the disease. Age of onset is variable, mode of inheritance is autosomal dominant.","Curated_Disease_Description_Source__c":"ORPHA:85195","GARD_Synonym__c":"feo; hereditary expansile polyostotic osteolytic dysplasia; mccabe disease; polyostotic osteolytic dysplasia, hereditary expansile","Name":"Familial expansile osteolysis","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":"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":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:85195"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:85195"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:85195"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0432292"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009168","Source__c":"RareSource"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=254153009","Source__c":"C0432292; MONDO:0008275","Xref__c":"254153009"},{"URL__c":"https://www.omim.org/entry/174810","Source__c":"C0432292; MONDO:0008275; ORPHA:85195","Xref__c":"OMIM:174810"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536335","Source__c":"MONDO:0008275","Xref__c":"C536335"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0432292","Source__c":"C0432292","Xref__c":"C0432292"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=96593","Source__c":"C0432292","Xref__c":"MEDGEN:96593"},{"URL__c":"https://www.orpha.net/en/disease/detail/85195","Source__c":"C0432292; MONDO:0008275; ORPHA:85195","Xref__c":"ORPHA:85195"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111542","Source__c":"MONDO:0008275","Xref__c":"DOID:0111542"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008275","Source__c":"GARD:0009168","Xref__c":"MONDO:0008275"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TNFRSF11A","GHR_URL__c":"https://medlineplus.gov/genetics/gene/tnfrsf11a","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:174810","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002653","HPO_Synonym__c":"Bone pain","HPO_Name__c":"Bone pain","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:174810","Feature__r":{"HPO_Description__c":"An increased concentration of 4-hydroxy-L-proline in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003080","HPO_Synonym__c":"Elevated urinary hydroxyproline","HPO_Name__c":"Hydroxyprolinuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:174810","Feature__r":{"HPO_Description__c":"Exfoliation of a tooth more than 2 SD earlier than the normal age for the deciduous teeth and not related to traume or neglect. Exfoliation of a permanent tooth is per se abnormal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006480","HPO_Synonym__c":"Early tooth loss; Loss of teeth; Premature teeth loss; Premature tooth loss","HPO_Name__c":"Premature loss of teeth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:174810","Feature__r":{"HPO_Description__c":"Abnormally increased serum levels of alkaline phosphatase activity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003155","HPO_Synonym__c":"Elevated alkaline phosphatase; Elevated ALP; Greatly elevated alkaline phosphatase; High serum alkaline phosphatase; Hyperphosphatasemia; Hyperphosphatasia; Increased alkaline phosphatase; Increased serum alkaline phosphatase","HPO_Name__c":"Elevated circulating alkaline phosphatase concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:174810","Feature__r":{"HPO_Description__c":"A bending or abnormal curvature of a long bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006487","HPO_Synonym__c":"Bowed long bones; Bowing of long bones; Bowing of the long bones; Camptomelia; Diaphyseal bowing; Diaphyseal bowing of long bones","HPO_Name__c":"Bowing of the long bones","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:174810","Feature__r":{"HPO_Description__c":"Abnormal thinning of the cortical region of bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002753","HPO_Synonym__c":"Thin cortices","HPO_Name__c":"Thin bony cortex","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:174810","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002797","HPO_Synonym__c":"Breakdown of bone; Increased bone resorption; Osteolytic defects of bones","HPO_Name__c":"Osteolysis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:174810","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000405","HPO_Synonym__c":"Conduction deafness; Conductive deafness; Conductive hearing loss; Hearing loss, conductive","HPO_Name__c":"Conductive hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:174810","Feature__r":{"HPO_Description__c":"A pathologic fracture occurs when a bone breaks in an area that is weakened secondarily to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002756","HPO_Synonym__c":"Spontaneous fracture","HPO_Name__c":"Pathologic fracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:174810","Feature__r":{"HPO_Description__c":"A tendency of teeth to fracture as manifested by a history of repeated fracture of the dental enamel without adequate trauma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025124","HPO_Synonym__c":"Enamel with tendency to chip; Spontaneous tooth fracture","HPO_Name__c":"Fragile teeth","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["feo"," hereditary expansile polyostotic osteolytic dysplasia"," mccabe disease"," polyostotic osteolytic dysplasia, hereditary expansile"]}