{"Name":"Osteopetrosis","DiseaseID__c":"GARD:0004155","id":4155,"encodedName":"osteopetrosis","IsDeleted":false,"Disease_Name_Full__c":"Osteopetrosis","Xref_IDs__c":"1926006; C0029454; C26840; D010022; DOID:13533; HP:0011002; MEDGEN:18223; MONDO:0017198; ORPHA:2781; Q78.2","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":2,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0017198","Disease_Description__c":"Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs.","GARD_Name__c":"Osteopetrosis","GARD_Synonym__c":"albers-schoenberg disease; albers-schonberg disease; albers-schönberg disease; harder, denser, fracture-prone bones; marble bone; marble bone disease; marble bones; osteopetrosis (disease); osteopetrosis and related disorders","Curated_Disease_Description_Source__c":"GARD:0004155","Curated_Disease_Description__c":"Osteopetrosis is a bone disease that makes bone tissue abnormally compact and dense and also prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant or autosomal recessive. The different types of the disorder can also be distinguished by the severity of their signs and symptoms. Autosomal dominant osteopetrosis (ADO), which is also called Albers-Schönberg disease, is typically the mildest type of the disorder. Some affected individuals have no symptoms. In affected people with no symptoms, the unusually dense bones may be discovered by accident when an x-ray is done for another reason.  In individuals with ADO who develop signs and symptoms, the major features of the condition include multiple bone fractures after minor injury, abnormal side-to-side curvature of the spine (scoliosis) or other spinal abnormalities, arthritis in the hips, and a bone infection called osteomyelitis. These problems usually become apparent in late childhood or adolescence. Autosomal recessive osteopetrosis (ARO) is a more severe form of the disorder that becomes apparent in early infancy. Affected individuals have a high risk of bone fracture resulting from seemingly minor bumps and falls. Their abnormally dense skull bones pinch nerves in the head and face (cranial nerves), often resulting in vision loss, hearing loss, and paralysis of facial muscles. Dense bones can also impair the function of bone marrow, preventing it from producing new blood cells and immune system cells. As a result, people with severe osteopetrosis are at risk of abnormal bleeding, a shortage of red blood cells (anemia), and recurrent infections. In the most severe cases, these bone marrow abnormalities can be life-threatening in infancy or early childhood. Other features of autosomal recessive osteopetrosis can include slow growth and short stature, dental abnormalities, and an enlarged liver and spleen (hepatosplenomegaly). Depending on the genetic changes involved, people with severe osteopetrosis can also have brain abnormalities, intellectual disability, or recurrent seizures (epilepsy). A few individuals have been diagnosed with intermediate autosomal osteopetrosis (IAO), a form of the disorder that can have either an autosomal dominant or an autosomal recessive pattern of inheritance. The signs and symptoms of this condition become noticeable in childhood and include an increased risk of bone fracture and anemia. People with this form of the disorder typically do not have life-threatening bone marrow abnormalities. However, some affected individuals have had abnormal calcium deposits (calcifications) in the brain, intellectual disability, and a form of kidney disease called renal tubular acidosis.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:2781","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0017198","ORPHANET_ID__c":"ORPHA:2781","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Osteopetrosis","Spanish_Description_Source__c":"ORPHA:2781","Spanish_Description__c":"La osteopetrosis, también conocida como enfermedad de huesos de mármol, es un término descriptivo que se refiere a un grupo de trastornos raros y hereditarios del esqueleto caracterizados por un incremento en la densidad ósea en las radiografías.","Spanish_Disease_Name__c":"osteopetrosis","Spanish_GARD_Synonym__c":null,"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":"Osteopetrosis is a bone disease that makes bone tissue abnormally compact and dense and also prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant or autosomal recessive. The different types of the disorder can also be distinguished by the severity of their signs and symptoms. Autosomal dominant osteopetrosis (ADO), which is also called Albers-Schönberg disease, is typically the mildest type of the disorder. Some affected individuals have no symptoms. In affected people with no symptoms, the unusually dense bones may be discovered by accident when an x-ray is done for another reason.  In individuals with ADO who develop signs and symptoms, the major features of the condition include multiple bone fractures after minor injury, abnormal side-to-side curvature of the spine (scoliosis) or other spinal abnormalities, arthritis in the hips, and a bone infection called osteomyelitis. These problems usually become apparent in late childhood or adolescence. Autosomal recessive osteopetrosis (ARO) is a more severe form of the disorder that becomes apparent in early infancy. Affected individuals have a high risk of bone fracture resulting from seemingly minor bumps and falls. Their abnormally dense skull bones pinch nerves in the head and face (cranial nerves), often resulting in vision loss, hearing loss, and paralysis of facial muscles. Dense bones can also impair the function of bone marrow, preventing it from producing new blood cells and immune system cells. As a result, people with severe osteopetrosis are at risk of abnormal bleeding, a shortage of red blood cells (anemia), and recurrent infections. In the most severe cases, these bone marrow abnormalities can be life-threatening in infancy or early childhood. Other features of autosomal recessive osteopetrosis can include slow growth and short stature, dental abnormalities, and an enlarged liver and spleen (hepatosplenomegaly). Depending on the genetic changes involved, people with severe osteopetrosis can also have brain abnormalities, intellectual disability, or recurrent seizures (epilepsy). A few individuals have been diagnosed with intermediate autosomal osteopetrosis (IAO), a form of the disorder that can have either an autosomal dominant or an autosomal recessive pattern of inheritance. The signs and symptoms of this condition become noticeable in childhood and include an increased risk of bone fracture and anemia. People with this form of the disorder typically do not have life-threatening bone marrow abnormalities. However, some affected individuals have had abnormal calcium deposits (calcifications) in the brain, intellectual disability, and a form of kidney disease called renal tubular acidosis.","Curated_Disease_Description_Source__c":"GARD:0004155","GARD_Synonym__c":"albers-schoenberg disease; albers-schonberg disease; albers-schönberg disease; harder, denser, fracture-prone bones; marble bone; marble bone disease; marble bones; osteopetrosis (disease); osteopetrosis and related disorders","Name":"Osteopetrosis","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Little People of America","Website__c":"https://www.lpaonline.org/"},{"Account_Name__c":"Osteopetrosis Support Trust","Website__c":"https://www.osteopetrosis-support-trust.org.uk/"},{"Account_Name__c":"The OsteoPETrosis Society","Website__c":"https://www.osteopetrosis.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":"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":"All ages","Provided_By__c":"ORPHA:2781"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/2781","Source__c":"C0029454; MONDO:0017198; ORPHA:2781","Xref__c":"ORPHA:2781"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=18223","Source__c":"C0029454","Xref__c":"MEDGEN:18223"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C010022","Source__c":"C0029454; MONDO:0017198","Xref__c":"D010022"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A13533","Source__c":"MONDO:0017198","Xref__c":"DOID:13533"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0029454","Source__c":"C0029454","Xref__c":"C0029454"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C26840","Source__c":"C0029454; MONDO:0017198","Xref__c":"C26840"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1926006","Source__c":"C0029454; MONDO:0017198","Xref__c":"1926006"},{"URL__c":"https://medlineplus.gov/genetics/condition/osteopetrosis","Source__c":"GARD:0004155","Xref__c":"https://medlineplus.gov/genetics/condition/osteopetrosis"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017198","Source__c":"GARD:0004155","Xref__c":"MONDO:0017198"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/Q78.2","Source__c":"MONDO:0017198","Xref__c":"Q78.2"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0011002","Source__c":"C0029454","Xref__c":"HP:0011002"},{"URL__c":"https://www.niams.nih.gov/health-topics/osteopetrosis"}],"Inheritance__c":["Autosomal dominant","X-linked recessive","Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["albers-schoenberg disease"," albers-schonberg disease"," albers-schönberg disease"," harder, denser, fracture-prone bones"," marble bone"," marble bone disease"," marble bones"," osteopetrosis (disease)"," osteopetrosis and related disorders"]}