{"Name":"Autosomal dominant osteopetrosis 1","DiseaseID__c":"GARD:0004151","id":4151,"encodedName":"autosomal-dominant-osteopetrosis-1","IsDeleted":false,"Disease_Name_Full__c":"Autosomal dominant osteopetrosis 1","Xref_IDs__c":"C1843330; C536056; DOID:0110937; MEDGEN:335932; MONDO:0011877; OMIM:607634; ORPHA:2783","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":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0011877","Disease_Description__c":"A rare sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.","GARD_Name__c":"Autosomal dominant osteopetrosis 1","GARD_Synonym__c":"autosomal dominant osteopetrosis type 1; lrp5 osteopetrosis (disease); lrp5-related autosomal dominant osteopetrosis; opta1; osteopetrosis (disease) caused by mutation in lrp5; osteopetrosis, autosomal dominant type 1; osteopetrosis, autosomal dominant, type i","Curated_Disease_Description_Source__c":"GARD:0004151","Curated_Disease_Description__c":"Osteopetrosis refers to a group of rare, inherited skeletal disorders characterized by increased bone density and abnormal bone growth. Symptoms and severity can vary greatly, ranging from neonatal onset with serious complications (such as bone marrow failure) to the incidental finding of osteopetrosis on X-ray. Depending on severity and age of onset, symptoms may include fractures, short stature, compressive neuropathies (pressure on the nerves), hypocalcemia with attendant tetanic seizures, and pancytopenia. In rare cases, there may be neurological impairment or involvement of other body systems. Osteopetrosis may be caused by genetic changes in at least 10 genes. Inheritance can be autosomal recessive, autosomal dominant, or X-linked recessive with the most severe forms being autosomal recessive.","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:2783","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011877","ORPHANET_ID__c":"ORPHA:2783","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Osteopetrosis dominante tipo 1","Spanish_Description_Source__c":"ORPHA:2783","Spanish_Description__c":"Es una osteopatía esclerosante poco frecuente caracterizada por un aumento de la densidad ósea, que afecta predominantemente a la bóveda craneal.","Spanish_Disease_Name__c":"osteopetrosis dominante tipo 1","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 refers to a group of rare, inherited skeletal disorders characterized by increased bone density and abnormal bone growth. Symptoms and severity can vary greatly, ranging from neonatal onset with serious complications (such as bone marrow failure) to the incidental finding of osteopetrosis on X-ray. Depending on severity and age of onset, symptoms may include fractures, short stature, compressive neuropathies (pressure on the nerves), hypocalcemia with attendant tetanic seizures, and pancytopenia. In rare cases, there may be neurological impairment or involvement of other body systems. Osteopetrosis may be caused by genetic changes in at least 10 genes. Inheritance can be autosomal recessive, autosomal dominant, or X-linked recessive with the most severe forms being autosomal recessive.","Curated_Disease_Description_Source__c":"GARD:0004151","GARD_Synonym__c":"autosomal dominant osteopetrosis type 1; lrp5 osteopetrosis (disease); lrp5-related autosomal dominant osteopetrosis; opta1; osteopetrosis (disease) caused by mutation in lrp5; osteopetrosis, autosomal dominant type 1; osteopetrosis, autosomal dominant, type i","Name":"Autosomal dominant osteopetrosis 1","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Osteopetrosis Support Trust","Website__c":"https://www.osteopetrosis-support-trust.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:2783"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:2783"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1843330"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0004151","Source__c":"RareSource"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110937","Source__c":"MONDO:0011877","Xref__c":"DOID:0110937"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536056","Source__c":"MONDO:0011877","Xref__c":"C536056"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1843330","Source__c":"C1843330","Xref__c":"C1843330"},{"URL__c":"https://www.orpha.net/en/disease/detail/2783","Source__c":"C1843330; MONDO:0011877; ORPHA:2783","Xref__c":"ORPHA:2783"},{"URL__c":"https://www.omim.org/entry/607634","Source__c":"C1843330; MONDO:0011877; ORPHA:2783","Xref__c":"OMIM:607634"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=335932","Source__c":"C1843330","Xref__c":"MEDGEN:335932"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1264041000","Source__c":"C1843330","Xref__c":"1264041000"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011877","Source__c":"GARD:0004151","Xref__c":"MONDO:0011877"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"LRP5","GHR_URL__c":"https://medlineplus.gov/genetics/gene/lrp5","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:607634","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A bony protrusion present on the midline of the hard palate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100789","HPO_Synonym__c":"Palatal tori; Palatal torus; Palate exostoses","HPO_Name__c":"Torus palatinus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:607634","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002315","HPO_Synonym__c":"Headache; Headaches","HPO_Name__c":"Headache","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:607634","Feature__r":{"HPO_Description__c":"The presence of an abnormally thick calvaria.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002684","HPO_Synonym__c":"Calvarial thickening; Calvarium thickened; Increased calvarial thickness; Increased thickness of calvaria; Increased thickness of calvarium; Increased thickness of cranial vault; Increased thickness of skull cap; Thick calvaria; Thick calvarium; Thickened calvarium; Thickened cranial vault; Thickened cranium; Thickened skull cap; Thickening of the calvaria","HPO_Name__c":"Thickened calvaria","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:607634","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":"OMIM:607634","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increase in bone density affecting the calvaria (roof of the skull).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005450","HPO_Name__c":"Calvarial osteosclerosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:607634","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the mandible.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200025","HPO_Synonym__c":"Lower jaw pain","HPO_Name__c":"Mandibular pain","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:607634","Feature__r":{"HPO_Description__c":"Any abnormality of the vertebral column.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000925","HPO_Synonym__c":"Abnormal spine; Abnormal vertebral column; Abnormality of the spine; Abnormality of the vertebral column","HPO_Name__c":"Abnormality of the vertebral column","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:607634","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:607634","Feature__r":{"HPO_Description__c":"An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002644","HPO_Synonym__c":"Abnormal shape of pelvic girdle bone; Abnormality of pelvic girdle bone morphology","HPO_Name__c":"Abnormal pelvic girdle bone morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:607634","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal thickening of the cortex of long bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000935","HPO_Synonym__c":"Broad cortex of long bones; Cortical thickening of the long bones; Thickened cortices of long bones","HPO_Name__c":"Thickened cortex of long bones","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:607634","Feature__r":{"HPO_Description__c":"Abnormally increased formation of dense trabecular bone tissue. Despite the increased density of bone tissue, osteopetrotic bones tend to be more fracture-prone than normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011002","HPO_Synonym__c":"Harder, denser, fracture-prone bones","HPO_Name__c":"Osteopetrosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["autosomal dominant osteopetrosis type 1"," lrp5 osteopetrosis (disease)"," lrp5-related autosomal dominant osteopetrosis"," opta1"," osteopetrosis (disease) caused by mutation in lrp5"," osteopetrosis, autosomal dominant type 1"," osteopetrosis, autosomal dominant, type i"]}