{"Name":"Osteogenesis imperfecta type 5","DiseaseID__c":"GARD:0008699","id":8699,"encodedName":"osteogenesis-imperfecta-type-5","IsDeleted":false,"Disease_Name_Full__c":"Osteogenesis imperfecta type 5","Xref_IDs__c":"1003379004; C2931093; C567042; DOID:0110344; MEDGEN:419332; MONDO:0012591; OMIM:610967; ORPHA:216828","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":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0012591","Disease_Description__c":"A moderate form of osteogenesis imperfecta characterized by increased bone fragility and low bone mass that clinically manifests with susceptibility to bone fractures of variable severity, metaphyseal changes at birth, short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus (occurring more often during periods of more rapid growth), white sclera and absence of dentinogenesis imperfecta.","GARD_Name__c":"Osteogenesis imperfecta type 5","GARD_Synonym__c":"ifitm5 osteogenesis imperfecta; oi type 5; oi5; osteogenesis imperfecta caused by mutation in ifitm5; osteogenesis imperfecta type v; osteogenesis imperfecta, type v; type v oi","Curated_Disease_Description_Source__c":"MONDO:0012591","Curated_Disease_Description__c":"A moderate form of osteogenesis imperfecta characterized by increased bone fragility and low bone mass that clinically manifests with susceptibility to bone fractures of variable severity, metaphyseal changes at birth, short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus (occurring more often during periods of more rapid growth), white sclera and absence of dentinogenesis imperfecta.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:216828","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012591","ORPHANET_ID__c":"ORPHA:216828","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Osteogénesis imperfecta tipo 5","Spanish_Description_Source__c":"ORPHA:216828","Spanish_Description__c":"Es una forma moderada de osteogénesis imperfecta caracterizada por una mayor fragilidad ósea y baja masa ósea que se manifiesta clínicamente con susceptibilidad a las fracturas óseas de gravedad variable, cambios metafisarios al nacimiento, talla baja, luxación de la cabeza radial, mineralización de las membranas interóseas, formación de callo hiperplásico (que se produce con mayor frecuencia durante los períodos de más rápido crecimiento), esclerótica blanca y ausencia de dentinogénesis imperfecta.","Spanish_Disease_Name__c":"osteogénesis imperfecta tipo 5","Spanish_GARD_Synonym__c":"oi tipo 5","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":"A moderate form of osteogenesis imperfecta characterized by increased bone fragility and low bone mass that clinically manifests with susceptibility to bone fractures of variable severity, metaphyseal changes at birth, short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus (occurring more often during periods of more rapid growth), white sclera and absence of dentinogenesis imperfecta.","Curated_Disease_Description_Source__c":"MONDO:0012591","GARD_Synonym__c":"ifitm5 osteogenesis imperfecta; oi type 5; oi5; osteogenesis imperfecta caused by mutation in ifitm5; osteogenesis imperfecta type v; osteogenesis imperfecta, type v; type v oi","Name":"Osteogenesis imperfecta type 5","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"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":"Neonatal","Provided_By__c":"ORPHA:216828"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:216828"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C2931093"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0008699","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2931093","Source__c":"C2931093","Xref__c":"C2931093"},{"URL__c":"https://www.orpha.net/en/disease/detail/216828","Source__c":"C2931093; MONDO:0012591; ORPHA:216828","Xref__c":"ORPHA:216828"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C567042","Source__c":"MONDO:0012591","Xref__c":"C567042"},{"URL__c":"https://www.omim.org/entry/610967","Source__c":"C2931093; MONDO:0012591; ORPHA:216828","Xref__c":"OMIM:610967"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=419332","Source__c":"C2931093","Xref__c":"MEDGEN:419332"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110344","Source__c":"MONDO:0012591","Xref__c":"DOID:0110344"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012591","Source__c":"GARD:0008699","Xref__c":"MONDO:0012591"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1003379004","Source__c":"C2931093","Xref__c":"1003379004"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"IFITM5","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant","Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:610967","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:610967","HPO_Frequency__c":"Occasional (5-29%)","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:610967","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased growth of callus, the bony and cartilaginous material that forms a connecting bridge across a bone fracture during fracture healing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030268","HPO_Name__c":"Hyperplastic callus formation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610967","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001763","HPO_Synonym__c":"Flat feet; Flat foot","HPO_Name__c":"Pes planus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610967","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000938","HPO_Synonym__c":"Generalized osteopenia","HPO_Name__c":"Osteopenia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610967","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A limitation of the ability to place the forearm in a position such that the palm faces anteriorly (supination) and to place the forearm in a position such that the palm faces posteriorly (pronation).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006394","HPO_Synonym__c":"Limited pronation/supination of forearm","HPO_Name__c":"Limited pronation/supination of forearm","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610967","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal shape of the vertebral bodies whereby the vertebral bodies are thick on one side and taper to a thin edge at the other.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008422","HPO_Synonym__c":"anterior wedging; Wedge-shaped vertebrae; Wedged vertebrae","HPO_Name__c":"Vertebral wedging","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610967","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000325","HPO_Synonym__c":"Face with broad temples and narrow chin; Inverted triangular face; Triangular face; Triangular facial shape; Triangular facies","HPO_Name__c":"Triangular face","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610967","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A flattened vertebral body shape with reduced distance between the vertebral endplates.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000926","HPO_Synonym__c":"Flat vertebral bodies; Flattened vertebrae; Flattened vertebral bodies","HPO_Name__c":"Platyspondyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610967","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001382","HPO_Synonym__c":"Double-Jointed; Extensible joints; Flexible joints; Hyperextensible joints; Increased joint mobility; Increased mobility of joints; Joint hyperextensibility; Joint hyperflexibility; Joint hyperlaxity; Joint laxity; Joints move beyond expected range of motion; Lax joints; Loose-jointedness","HPO_Name__c":"Joint hypermobility","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610967","HPO_Frequency__c":"Frequent (30-79%)","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:610967","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The ability of the finger joints to move beyond their normal range of motion.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001187","HPO_Synonym__c":"Finger joint hyperextensibility; Hyperextensible digits; Hyperextensible finger","HPO_Name__c":"Hyperextensibility of the finger joints","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610967","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:610967","HPO_Frequency__c":"Frequent (30-79%)","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":"OMIM:610967","HPO_Frequency__c":"Frequent (30-79%)","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:610967","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A dislocation of the head of the radius from its socket in the elbow joint in an anterior direction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005084","HPO_Synonym__c":"Anterior dislocation of radial head","HPO_Name__c":"Anterior radial head dislocation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610967","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The ability of the elbow joint to move beyond its normal range of motion.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010485","HPO_Name__c":"Hyperextensibility at elbow","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["ifitm5 osteogenesis imperfecta"," oi type 5"," oi5"," osteogenesis imperfecta caused by mutation in ifitm5"," osteogenesis imperfecta type v"," osteogenesis imperfecta, type v"," type v oi"]}