{"Name":"Osteogenesis imperfecta type 6","DiseaseID__c":"GARD:0008700","id":8700,"encodedName":"osteogenesis-imperfecta-type-6","IsDeleted":false,"Disease_Name_Full__c":"Osteogenesis imperfecta type 6","Xref_IDs__c":"C3279564; C536047; DOID:0110350; MEDGEN:481194; MONDO:0013515; OMIM:613982","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"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":3,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0013515","Disease_Description__c":"Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SERPINF1 gene.","GARD_Name__c":"Osteogenesis imperfecta type 6","GARD_Synonym__c":"oi6; osteogenesis imperfecta caused by mutation in serpinf1; osteogenesis imperfecta type vi; osteogenesis imperfecta, type vi; serpinf1 osteogenesis imperfecta; serpinf1-related osteogenesis imperfecta","Curated_Disease_Description_Source__c":"GARD:0008700","Curated_Disease_Description__c":"\"Osteogenesis imperfecta type 6 is a form of osteogenesis imperfecta which results in weakened bones that breaks easily. When viewed under a microscope, bone tissue has a distinct \"\"fish-scale\"\" pattern. Individuals with osteogenesis imperfecta type 6 appear to be healthy at birth and usually do not have fractures until after 6 months of age. Osteogenesis imperfecta type 6 may be caused by genetic changes in the SERPINF1 gene and is inherited in an autosomal recessive pattern.\"","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:613982","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013515","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"\"Osteogenesis imperfecta type 6 is a form of osteogenesis imperfecta which results in weakened bones that breaks easily. When viewed under a microscope, bone tissue has a distinct \"\"fish-scale\"\" pattern. Individuals with osteogenesis imperfecta type 6 appear to be healthy at birth and usually do not have fractures until after 6 months of age. Osteogenesis imperfecta type 6 may be caused by genetic changes in the SERPINF1 gene and is inherited in an autosomal recessive pattern.\"","Curated_Disease_Description_Source__c":"GARD:0008700","GARD_Synonym__c":"oi6; osteogenesis imperfecta caused by mutation in serpinf1; osteogenesis imperfecta type vi; osteogenesis imperfecta, type vi; serpinf1 osteogenesis imperfecta; serpinf1-related osteogenesis imperfecta","Name":"Osteogenesis imperfecta type 6","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Osteogenesis Imperfecta Foundation","Website__c":"https://oif.org/"},{"Account_Name__c":"Children's Brittle Bone Foundation","Website__c":"https://www.cbbf.org/"},{"Account_Name__c":"Canadian Osteogenesis Imperfecta Society","Website__c":"https://www.cois-scoi.ca/"},{"Account_Name__c":"The Brittle Bone Society","Website__c":"https://brittlebone.org/"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C3279564"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0008700","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=481194","Source__c":"C3279564","Xref__c":"MEDGEN:481194"},{"URL__c":"https://www.omim.org/entry/613982","Source__c":"C3279564; MONDO:0013515","Xref__c":"OMIM:613982"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536047","Source__c":"MONDO:0013515","Xref__c":"C536047"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110350","Source__c":"MONDO:0013515","Xref__c":"DOID:0110350"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3279564","Source__c":"C3279564","Xref__c":"C3279564"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013515","Source__c":"GARD:0008700","Xref__c":"MONDO:0013515"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SERPINF1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:613982","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002953","HPO_Synonym__c":"Compression fracture of a vertebral body; Fractures of vertebral bodies; Vertebral body compression; Vertebral collapse; Vertebral compression; Vertebral compression fractures; Vertebral compression or collapse","HPO_Name__c":"Vertebral compression fracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613982","Feature__r":{"HPO_Description__c":"Anterior tongue-like protrusions of the vertebral bodies.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004568","HPO_Synonym__c":"anterior beaking; Anterior beaking of vertebrae; Anterior beaking of vertebral bodies; Beaked vertebral bodies; Vertebral tongue-like protrusion","HPO_Name__c":"Beaking of vertebral bodies","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613982","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002659","HPO_Synonym__c":"Abnormal susceptibility to fractures; Bone fragility; Frequent broken bones; Increased bone fragility; Increased susceptibility to fractures; Increased tendency to fractures","HPO_Name__c":"Increased susceptibility to fractures","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613982","Feature__r":{"HPO_Description__c":"Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002812","HPO_Name__c":"Coxa vara","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613982","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A bending or abnormal curvature affecting a long bone of the leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002979","HPO_Synonym__c":"Bow legs; Bow-leggedness; Bowed legs; Bowed lower limbs","HPO_Name__c":"Bowing of the legs","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613982","Feature__r":{"HPO_Description__c":"Exaggerated concavity of the anterior or posterior surface of the vertebral body, i.e., the upper and lower vertebral endplates are hollowed inward.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004586","HPO_Synonym__c":"Biconcave 'codfish' vertebrae; Biconcave vertebrae; Codfish vertebrae; Fish vertebrae; Scalloping of vertebral bodies","HPO_Name__c":"Biconcave vertebral bodies","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613982","Feature__r":{"HPO_Description__c":"Intrapelvic bulging of the medial acetabular wall.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003179","HPO_Synonym__c":"Abnormally indented hip sockets; Acetabular protrusion; Protrusio acetabulae","HPO_Name__c":"Protrusio acetabuli","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613982","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal bluish coloration of the sclera.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000592","HPO_Synonym__c":"Blue sclera; Bluish sclerae; Gray sclerae; Whites of eyes are a bluish-gray color","HPO_Name__c":"Blue sclerae","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613982","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased concentration of lysyl-pyridinoline (deoxypyridinoline) cross-links in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033154","HPO_Name__c":"Elevated circulating deoxypyridinoline concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:613982","HPO_Frequency__c":"Very frequent (80-99%)","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:613982","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A bending or abnormal curvature affecting a long bone of the arm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006488","HPO_Synonym__c":"Bending of the arm; Bowing of the arm","HPO_Name__c":"Bowing of the arm","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613982","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":"OMIM:613982","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of Developmental delay characterized by a delay in acquiring motor skills.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001270","HPO_Synonym__c":"Delay in development of motor milestones; Delay in motor development; Delayed development of motor milestones; Delayed early motor milestones; Delayed motor development; Delayed motor milestones; Locomotor delay; Motor developmental delay; Motor developmental milestones not achieved; Motor retardation; Retarded motor development; Slow development of motor milestones","HPO_Name__c":"Motor delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["oi6"," osteogenesis imperfecta caused by mutation in serpinf1"," osteogenesis imperfecta type vi"," osteogenesis imperfecta, type vi"," serpinf1 osteogenesis imperfecta"," serpinf1-related osteogenesis imperfecta"]}