{"Name":"Hyperphosphatasemia tarda","DiseaseID__c":"GARD:0002833","id":2833,"encodedName":"hyperphosphatasemia-tarda","IsDeleted":false,"Disease_Name_Full__c":"Hyperphosphatasemia tarda","Xref_IDs__c":"59763006; C0432272; C131812; DOID:0080036; MEDGEN:98484; MONDO:0009395; OMIM:239100; ORPHA:3416","USA_Estimate__c":"1,000","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":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0009395","Disease_Description__c":"Hyperostosis corticalis generalisata, also known as van Buchem disease, is a rare craniotubular hyperostosis characterized by hyperostosis of the skull, mandible, clavicles, ribs and diaphyses of the long bones, as well as the tubular bones of the hands and feet. Clinical manifestations include increased skull thickness with cranial nerve entrapment causing inconsistent cranial nerve palsies.","GARD_Name__c":"Hyperphosphatasemia tarda","GARD_Synonym__c":"endosteal hyperostosis; hyperostosis corticalis generalisata; hyperphosphatasia tarda; leontiasis ossea generalisata; van buchem disease; van buchem disease type 1; van buchem's syndrome; vbch","Curated_Disease_Description_Source__c":"MONDO:0009395","Curated_Disease_Description__c":"Hyperostosis corticalis generalisata, also known as van Buchem disease, is a rare craniotubular hyperostosis characterized by hyperostosis of the skull, mandible, clavicles, ribs and diaphyses of the long bones, as well as the tubular bones of the hands and feet. Clinical manifestations include increased skull thickness with cranial nerve entrapment causing inconsistent cranial nerve palsies.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child and as a Teenager","SourceID__c":"ORPHA:3416","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009395","ORPHANET_ID__c":"ORPHA:3416","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hiperostosis cortical generalizada","Spanish_Description_Source__c":"ORPHA:3416","Spanish_Description__c":"Es un tipo de hiperostosis craneotubular muy poco frecuente caracterizada por hiperostosis del cráneo, mandíbula, clavículas, costillas y diáfisis de huesos largos, así como de los huesos tubulares de manos y pies. Los hallazgos clínicos incluyen un aumento del espesor del cráneo con atrapamiento de los nervios craneales, causando parálisis de distintos nervios craneales.","Spanish_Disease_Name__c":"hiperostosis cortical generalizada","Spanish_GARD_Synonym__c":"enfermedad de van buchem; hiperfosfatasemia tardía","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":"Hyperostosis corticalis generalisata, also known as van Buchem disease, is a rare craniotubular hyperostosis characterized by hyperostosis of the skull, mandible, clavicles, ribs and diaphyses of the long bones, as well as the tubular bones of the hands and feet. Clinical manifestations include increased skull thickness with cranial nerve entrapment causing inconsistent cranial nerve palsies.","Curated_Disease_Description_Source__c":"MONDO:0009395","GARD_Synonym__c":"endosteal hyperostosis; hyperostosis corticalis generalisata; hyperphosphatasia tarda; leontiasis ossea generalisata; van buchem disease; van buchem disease type 1; van buchem's syndrome; vbch","Name":"Hyperphosphatasemia tarda","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":"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":"Adolescent","Provided_By__c":"ORPHA:3416"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:3416"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0002833","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK587318","Source__c":"Gene Review","Xref__c":"NBK587318"},{"URL__c":"https://www.orpha.net/en/disease/detail/3416","Source__c":"C0432272; MONDO:0009395; ORPHA:3416","Xref__c":"ORPHA:3416"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=98484","Source__c":"C0432272","Xref__c":"MEDGEN:98484"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C131812","Source__c":"C0432272; MONDO:0009395","Xref__c":"C131812"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=59763006","Source__c":"C0432272; MONDO:0009395","Xref__c":"59763006"},{"URL__c":"https://www.omim.org/entry/239100","Source__c":"C0432272; MONDO:0009395; ORPHA:3416","Xref__c":"OMIM:239100"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0432272","Source__c":"C0432272","Xref__c":"C0432272"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080036","Source__c":"MONDO:0009395","Xref__c":"DOID:0080036"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009395","Source__c":"GARD:0002833","Xref__c":"MONDO:0009395"},{"URL__c":"https://medlineplus.gov/genetics/condition/sost-related-sclerosing-bone-dysplasia","Source__c":"GARD:0002833","Xref__c":"https://medlineplus.gov/genetics/condition/sost-related-sclerosing-bone-dysplasia"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SOST","GHR_URL__c":"https://medlineplus.gov/genetics/gene/sost","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant","Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:3416","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of compact bone (also known as cortical bone), which forms the dense surface of bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003103","HPO_Synonym__c":"Abnormal compact bone morphology; Abnormality of cortical bone","HPO_Name__c":"Abnormal cortical bone morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3416","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Excessive growth of the bones of cranium, i.e., of the skull.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004437","HPO_Synonym__c":"Hyperostosis of cranial bones; Hyperostosis of cranial vault; Increased ossification of cranial bones","HPO_Name__c":"Cranial hyperostosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3416","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal increase of bone mineral density with generalized involvement of the skeleton.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005789","HPO_Synonym__c":"Diffuse, symmetrical osteosclerosis; Osteosclerosis, diffuse symmetrical","HPO_Name__c":"Generalized osteosclerosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3416","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal prominence of the chin related to increased length of the mandible.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000303","HPO_Synonym__c":"Big lower jaw; Big mandible; Enlarged mandible; Enlargement of mandible; Hyperplasia of lower jaw; Increased projection of lower jaw; Increased projection of mandible; Increased size of lower jaw; Large lower jaw; Large mandible; Lower jaw excess; Lower jaw hyperplasia; Macromandible; Mandible prognathism; Mandibular excess; Mandibular hyperplasia; Mandibular macrognathia; Mandibular prognathism; Prognathia; Prognathism; Prominent chin; Prominent jaw; Prominent lower jaw; Prominent mandible; Relative mandibular prognathism","HPO_Name__c":"Mandibular prognathia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3416","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000407","HPO_Synonym__c":"Hearing loss, sensorineural; Sensorineural deafness; Sensorineural hearing loss","HPO_Name__c":"Sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3416","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Tubulation refers to the size and shape of tubular bones. In children and adolescents, the modeling process regulates normal bone growth. Final shaft (tube) diameter depends on appositional bone growth and the equilibrium between periosteal and endosteal bone resorption and formation. Undertubulation refers to a broad, widened form of the shafts (diaphyses) of long bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005019","HPO_Synonym__c":"Diaphyseal widening; Thickening of shaft or central part of long bones; Undertubulated long bones; Undertubulation of diaphyses","HPO_Name__c":"Diaphyseal undertubulation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3416","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010628","HPO_Synonym__c":"Bell's palsy; Cranial nerve VII palsy; Facial nerve palsy; Facial nerve paralysis; Facial palsy, unilateral or bilateral; Seventh cranial nerve palsy; VII th cranial nerve palsy","HPO_Name__c":"Facial palsy","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3416","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any abnormality of the clavicles (collar bones).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000889","HPO_Synonym__c":"Abnormal clavicles; Abnormal collarbone; Abnormality of the clavicle","HPO_Name__c":"Abnormal clavicle morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["endosteal hyperostosis"," hyperostosis corticalis generalisata"," hyperphosphatasia tarda"," leontiasis ossea generalisata"," van buchem disease"," van buchem disease type 1"," van buchem's syndrome"," vbch"]}