{"Name":"Osteogenesis imperfecta with normal sclerae, dominant form","DiseaseID__c":"GARD:0008696","id":8696,"encodedName":"osteogenesis-imperfecta-with-normal-sclerae-dominant-form","IsDeleted":false,"Disease_Name_Full__c":"Osteogenesis imperfecta with normal sclerae, dominant form","Xref_IDs__c":"205497004; C0268363; C536045; C98576; DOID:0110340; MEDGEN:78665; MONDO:0008148; OMIM:166220; ORPHA:216820","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0008148","Disease_Description__c":"A moderately severe form of osteogenesis imperfecta characterized by increased bone fragility and low bone mass that clinically manifests from infancy as susceptibility to bone fractures, short stature, mild to moderate scoliosis in most, gray-blue or white sclera, and dentinogenesis imperfecta.","GARD_Name__c":"Osteogenesis imperfecta with normal sclerae, dominant form","GARD_Synonym__c":"common variable osteogenesis imperfecta with normal sclerae; oi type 4; oi4; osteogenesis imperfecta type 4; osteogenesis imperfecta type iv; osteogenesis imperfecta with normal sclera; osteogenesis imperfecta with normal sclerae; osteogenesis imperfecta, type iv; osteogenesis imperfecta, type iv, with dentinogenesis imperfecta","Curated_Disease_Description_Source__c":"GARD:0008696","Curated_Disease_Description__c":"Osteogenesis imperfecta type IV (OI type IV) is a type of osteogenesis imperfecta, which refers to a group of conditions that affect the bones. OI type IV is the most variable form of the condition with symptoms ranging from moderately severe to so mild that it may be difficult to make the diagnosis. Symptoms vary, but may include easily broken bones, mild short stature, dentinogenesis imperfecta, adult-onset hearing loss, and normal-to-grey sclerae (the whites of the eye). OI type IV is caused by changes in the COL1A1 or COL1A2 gene and is inherited in an autosomal dominant manner.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:216820","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008148","ORPHANET_ID__c":"ORPHA:216820","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Osteogénesis imperfecta tipo 4","Spanish_Description_Source__c":"ORPHA:216820","Spanish_Description__c":"Es una forma moderadamente grave de osteogénesis imperfecta caracterizada por un aumento de la fragilidad ósea y baja masa ósea que se manifiesta clínicamente desde la lactancia con susceptibilidad a las fracturas óseas, talla baja, escoliosis de leve a moderada en la mayoría de los pacientes, esclerótica gris-azulada o blanca, y dentinogénesis imperfecta.","Spanish_Disease_Name__c":"osteogénesis imperfecta tipo 4","Spanish_GARD_Synonym__c":"oi tipo 4","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":"Osteogenesis imperfecta type IV (OI type IV) is a type of osteogenesis imperfecta, which refers to a group of conditions that affect the bones. OI type IV is the most variable form of the condition with symptoms ranging from moderately severe to so mild that it may be difficult to make the diagnosis. Symptoms vary, but may include easily broken bones, mild short stature, dentinogenesis imperfecta, adult-onset hearing loss, and normal-to-grey sclerae (the whites of the eye). OI type IV is caused by changes in the COL1A1 or COL1A2 gene and is inherited in an autosomal dominant manner.","Curated_Disease_Description_Source__c":"GARD:0008696","GARD_Synonym__c":"common variable osteogenesis imperfecta with normal sclerae; oi type 4; oi4; osteogenesis imperfecta type 4; osteogenesis imperfecta type iv; osteogenesis imperfecta with normal sclera; osteogenesis imperfecta with normal sclerae; osteogenesis imperfecta, type iv; osteogenesis imperfecta, type iv, with dentinogenesis imperfecta","Name":"Osteogenesis imperfecta with normal sclerae, dominant form","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"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/"}],"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":"Ophthalmology","Tag_Category__c":"Specialist"},{"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":"Odontology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:216820"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:216820"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0268363"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0008696","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1295","Source__c":"Gene Review","Xref__c":"NBK1295"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=205497004","Source__c":"C0268363; MONDO:0008148","Xref__c":"205497004"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536045","Source__c":"MONDO:0008148","Xref__c":"C536045"},{"URL__c":"https://www.orpha.net/en/disease/detail/216820","Source__c":"C0268363; MONDO:0008148; ORPHA:216820","Xref__c":"ORPHA:216820"},{"URL__c":"https://www.omim.org/entry/166220","Source__c":"C0268363; MONDO:0008148; ORPHA:216820","Xref__c":"OMIM:166220"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110340","Source__c":"MONDO:0008148","Xref__c":"DOID:0110340"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=78665","Source__c":"C0268363","Xref__c":"MEDGEN:78665"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0268363","Source__c":"C0268363","Xref__c":"C0268363"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C98576","Source__c":"C0268363; MONDO:0008148","Xref__c":"C98576"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008148","Source__c":"GARD:0008696","Xref__c":"MONDO:0008148"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"COL1A2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/col1a2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"COL1A1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/col1a1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive","X-linked recessive","Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:166220","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:166220","Feature__r":{"HPO_Description__c":"A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004349","HPO_Synonym__c":"Decreased bone mineral density; Decreased bone mineral density Z score; Low solidness and mass of the bones","HPO_Name__c":"Reduced bone mineral density","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:166220","Feature__r":{"HPO_Description__c":"Congenital onset bending or abnormal curvature of the femur that normalizes with age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005005","HPO_Synonym__c":"Bowing of thighbone at birth, straightening with time","HPO_Name__c":"Femoral bowing present at birth, straightening with time","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:166220","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:166220","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":"OMIM:166220","Feature__r":{"HPO_Description__c":"Curvature of the shafts of the long bones due to multiple fractures.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003023","HPO_Synonym__c":"Bowed limbs due to multiple fractures","HPO_Name__c":"Bowing of limbs due to multiple fractures","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:166220","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Popcorn calcifications are areas of amorphous calcifications often with rings and arcs that resemble popped corn kernels in the metaphysis and epiphysis around the growth plate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:6000871","HPO_Name__c":"Popcorn calcification","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:166220","Feature__r":{"HPO_Description__c":"In otosclerosis, a callus of bone accumulates on the stapes creating a partial fixation. This limits the movement of the stapes bone, which results in hearing loss.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000362","HPO_Name__c":"Otosclerosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:166220","Feature__r":{"HPO_Description__c":"Developmental dysplasia of dentin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000703","HPO_Name__c":"Dentinogenesis imperfecta","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:166220","Feature__r":{"HPO_Description__c":"Exaggerated anterior convexity of the thoracic vertebral column.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002808","HPO_Synonym__c":"Gibbus deformity; Hunched back; Hyperkyphosis; Round back","HPO_Name__c":"Kyphosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:166220","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003321","HPO_Name__c":"Biconcave flattened vertebrae","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:166220","Feature__r":{"HPO_Description__c":"The presence of extra bones within a cranial suture. Wormian bones are irregular isolated bones which appear in addition to the usual centers of ossification of the cranium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002645","HPO_Synonym__c":"Extra bones within cranial sutures; Intra sutural bones; Intrasutural bones; Islands of bone within cranial sutures","HPO_Name__c":"Wormian bones","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:166220","Feature__r":{"HPO_Description__c":"The presence of an abnormal lateral curvature of the spine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002650","HPO_Name__c":"Scoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:166220","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:166220","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Orthopedics","Odontology","Pediatrics"]},"synonyms":["common variable osteogenesis imperfecta with normal sclerae"," oi type 4"," oi4"," osteogenesis imperfecta type 4"," osteogenesis imperfecta type iv"," osteogenesis imperfecta with normal sclera"," osteogenesis imperfecta with normal sclerae"," osteogenesis imperfecta, type iv"," osteogenesis imperfecta, type iv, with dentinogenesis imperfecta"]}