{"Name":"Hyperphosphatasemia with bone disease","DiseaseID__c":"GARD:0002831","id":2831,"encodedName":"hyperphosphatasemia-with-bone-disease","IsDeleted":false,"Disease_Name_Full__c":"Hyperphosphatasemia with bone disease","Xref_IDs__c":"9723006; C0268414; C131861; C537701; DOID:0081368; MEDGEN:75678; MONDO:0009394; OMIM:239000; ORPHA:2801","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":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0009394","Disease_Description__c":"Juvenile Paget disease is a very rare form of Paget disease of the bone characterized by a general increase in bone turnover with increased bone resorption and deposition, resulting in cortical and trabecular thickening, and clinically presenting as progressive skeletal deformities, growth impairment, fractures, vertebral collapse, skull enlargement and sensorineural hearing loss.","GARD_Name__c":"Hyperphosphatasemia with bone disease","GARD_Synonym__c":"chronic congenital idiopathic hyperphosphatasemia; familial hyperphosphatasia; familial idiopathic hyperphosphatasemia; familial osteoectasia; hereditary hyperphosphatasia; hyperostosis corticalis deformans juvenilis; hyperphosphatasemia, chronic congenital idiopathic; hyperphosphatasia, familial idiopathic; jpg; juvenile paget disease; juvenile paget's disease; osteochalasia desmalis familiaris; osteoectasia familial; osteoectasia with hyperphosphatasia; paget disease of bone 5; paget disease of bone 5, juvenile-onset; paget disease, juvenile; pdb5","Curated_Disease_Description_Source__c":"GARD:0002831","Curated_Disease_Description__c":"Juvenile Paget disease is a disorder that affects bone growth. This disease causes bones to be abnormally large, misshapen, and easily broken (fractured). The specific signs and symptoms and the severity of the condition can vary among affected individuals. The features of juvenile Paget disease appear in infancy or childhood. As bones grow, they become weaker and misshapen. These abnormalities usually become more severe during the adolescent growth spurt, when bones grow very quickly. Juvenile Paget disease affects the entire skeleton, resulting in widespread bone and joint pain. The bones of the skull tend to grow unusually large and thick, which can increase the size of the head (circumference). The abnormal growth of the skull bones can damage the bones in the ear, leading to hearing loss. The disease can also cause an abnormal curvature of the spine (kyphosis). Additionally, the weight-bearing long bones in the legs tend to bow and fracture easily, which can interfere with the ability to stand and walk. Other features of juvenile Paget disease can include short stature; developmental delays; dental problems, such as the delayed appearance (eruption) of teeth or the early (premature) loss of teeth; and vision problems, which can include abnormalities of the light-sensing tissue at the back of the eye (retina). Affected individuals may also have an abnormal accumulation of calcium (calcification) in the walls of blood vessels. Rarely, people with juvenile Paget disease have a bulge (aneurysm) in the wall of the vessel that carries blood to the brain, face, and neck (internal carotid artery). If an aneurysm grows large, it can burst and cause dangerous bleeding.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:2801","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009394","ORPHANET_ID__c":"ORPHA:2801","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de paget juvenil","Spanish_Description_Source__c":"ORPHA:2801","Spanish_Description__c":"Es una forma muy poco frecuente de la enfermedad ósea de Paget caracterizada por un incremento general de la tasa de recambio óseo con aumento de la resorción y deposición ósea, resultando en el engrosamiento cortical y trabecular. Clínicamente se presenta como deformidades óseas progresivas, problemas de crecimiento, fracturas, colapso vertebral, incremento del tamaño del cráneo y pérdida de audición neurosensorial.","Spanish_Disease_Name__c":"enfermedad de paget juvenil","Spanish_GARD_Synonym__c":"hiperfosfatasia hereditaria; hiperostosis cortical deformante juvenil; jpg; osteoectasia familiar","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":"Juvenile Paget disease is a disorder that affects bone growth. This disease causes bones to be abnormally large, misshapen, and easily broken (fractured). The specific signs and symptoms and the severity of the condition can vary among affected individuals. The features of juvenile Paget disease appear in infancy or childhood. As bones grow, they become weaker and misshapen. These abnormalities usually become more severe during the adolescent growth spurt, when bones grow very quickly. Juvenile Paget disease affects the entire skeleton, resulting in widespread bone and joint pain. The bones of the skull tend to grow unusually large and thick, which can increase the size of the head (circumference). The abnormal growth of the skull bones can damage the bones in the ear, leading to hearing loss. The disease can also cause an abnormal curvature of the spine (kyphosis). Additionally, the weight-bearing long bones in the legs tend to bow and fracture easily, which can interfere with the ability to stand and walk. Other features of juvenile Paget disease can include short stature; developmental delays; dental problems, such as the delayed appearance (eruption) of teeth or the early (premature) loss of teeth; and vision problems, which can include abnormalities of the light-sensing tissue at the back of the eye (retina). Affected individuals may also have an abnormal accumulation of calcium (calcification) in the walls of blood vessels. Rarely, people with juvenile Paget disease have a bulge (aneurysm) in the wall of the vessel that carries blood to the brain, face, and neck (internal carotid artery). If an aneurysm grows large, it can burst and cause dangerous bleeding.","Curated_Disease_Description_Source__c":"GARD:0002831","GARD_Synonym__c":"chronic congenital idiopathic hyperphosphatasemia; familial hyperphosphatasia; familial idiopathic hyperphosphatasemia; familial osteoectasia; hereditary hyperphosphatasia; hyperostosis corticalis deformans juvenilis; hyperphosphatasemia, chronic congenital idiopathic; hyperphosphatasia, familial idiopathic; jpg; juvenile paget disease; juvenile paget's disease; osteochalasia desmalis familiaris; osteoectasia familial; osteoectasia with hyperphosphatasia; paget disease of bone 5; paget disease of bone 5, juvenile-onset; paget disease, juvenile; pdb5","Name":"Hyperphosphatasemia with bone disease","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Bone Health & Osteoporosis Foundation","Website__c":"https://www.bonehealthandosteoporosis.org"},{"Account_Name__c":"The Paget's Association","Website__c":"https://www.paget.org.uk/"}],"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:2801"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0002831","Source__c":"RareSource"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0081368","Source__c":"MONDO:0009394","Xref__c":"DOID:0081368"},{"URL__c":"https://www.orpha.net/en/disease/detail/2801","Source__c":"C0268414; MONDO:0009394; ORPHA:2801","Xref__c":"ORPHA:2801"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537701","Source__c":"MONDO:0009394","Xref__c":"C537701"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0268414","Source__c":"C0268414","Xref__c":"C0268414"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=75678","Source__c":"C0268414","Xref__c":"MEDGEN:75678"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C131861","Source__c":"C0268414; MONDO:0009394","Xref__c":"C131861"},{"URL__c":"https://www.omim.org/entry/239000","Source__c":"C0268414; MONDO:0009394; ORPHA:2801","Xref__c":"OMIM:239000"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=9723006","Source__c":"C0268414; MONDO:0009394","Xref__c":"9723006"},{"URL__c":"https://medlineplus.gov/genetics/condition/juvenile-paget-disease","Source__c":"GARD:0002831","Xref__c":"https://medlineplus.gov/genetics/condition/juvenile-paget-disease"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009394","Source__c":"GARD:0002831","Xref__c":"MONDO:0009394"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TNFRSF11B","GHR_URL__c":"https://medlineplus.gov/genetics/gene/tnfrsf11b","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2801","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Slightly elevated lesions on or in the skin with a diameter of over 5 mm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001482","HPO_Synonym__c":"Firm lump under the skin; Growth of abnormal tissue under the skin","HPO_Name__c":"Subcutaneous nodule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2801","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any abnormality of the teeth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000164","HPO_Synonym__c":"Abnormal dentition; Abnormal teeth; Dental abnormalities; Dental abnormality; Dental anomalies","HPO_Name__c":"Abnormality of the dentition","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2801","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000939","HPO_Name__c":"Osteoporosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2801","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:2801","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:2801","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000256","HPO_Synonym__c":"Increased size of cranium; Increased size of skull; Large head; Large head circumference; Macrocephalus; Macrocrania; Megacephaly","HPO_Name__c":"Macrocephaly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2801","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A oval and round, colored (usually medium-to dark brown, reddish brown, or flesh colored) lesion. Typically, a melanocytic nevus is less than 6 mm in diameter, but may be much smaller or larger.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000995","HPO_Synonym__c":"Beauty mark; Melanocytic naevus; Melanocytic nevi; Nevocellular nevi; Pigmented naevi; Pigmented nevi","HPO_Name__c":"Melanocytic nevus","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2801","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"}},{"Provided_By__c":"ORPHA:2801","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"}},{"Provided_By__c":"ORPHA:2801","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000768","HPO_Synonym__c":"Pigeon chest","HPO_Name__c":"Pectus carinatum","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2801","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000648","HPO_Synonym__c":"Optic nerve atrophy; Optic-nerve degeneration","HPO_Name__c":"Optic atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2801","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A decreased magnitude of the sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000365","HPO_Synonym__c":"Deafness; Hearing defect; Hearing impairment; Hypacusis","HPO_Name__c":"Hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2801","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of chronic increased pressure in the systemic arterial system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000822","HPO_Synonym__c":"Arterial hypertension; Systemic hypertension","HPO_Name__c":"Hypertension","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2801","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002757","HPO_Synonym__c":"Frequent fractures; Increased fracture rate; Increased fractures; Multiple fractures; Multiple spontaneous fractures; Recurrent fractures; Varying degree of multiple fractures","HPO_Name__c":"Recurrent fractures","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2801","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any deviation from the normal pigmentation of the retina.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007703","HPO_Synonym__c":"Abnormality of retinal pigment epithelium; Abnormality of retinal pigmentation; Abnormality of RPE; Retinal pigmentary anomaly","HPO_Name__c":"Abnormal retinal pigmentation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2801","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally high level of uric acid in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002149","HPO_Synonym__c":"High blood uric acid level; Hyperuricaemia","HPO_Name__c":"Hyperuricemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:2801","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Coarse appearance of the components of the network of osseous tissue that makes up the cancellous structure of a bone, i.e., thickening of the (usually fine) white lines that are produced by trabeculae in radiograms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100670","HPO_Synonym__c":"Coarse trabeculation at metaphyses; Rough bone trabeculation; Rough trabeculation of bone","HPO_Name__c":"Coarse metaphyseal trabecularization","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["chronic congenital idiopathic hyperphosphatasemia"," familial hyperphosphatasia"," familial idiopathic hyperphosphatasemia"," familial osteoectasia"," hereditary hyperphosphatasia"," hyperostosis corticalis deformans juvenilis"," hyperphosphatasemia, chronic congenital idiopathic"," hyperphosphatasia, familial idiopathic"," jpg"," juvenile paget disease"," juvenile paget's disease"," osteochalasia desmalis familiaris"," osteoectasia familial"," osteoectasia with hyperphosphatasia"," paget disease of bone 5"," paget disease of bone 5, juvenile-onset"," paget disease, juvenile"," pdb5"]}