{"Name":"Dentinogenesis imperfecta type 3","DiseaseID__c":"GARD:0010144","id":10144,"encodedName":"dentinogenesis-imperfecta-type-3","IsDeleted":false,"Disease_Name_Full__c":"Dentinogenesis imperfecta type 3","Xref_IDs__c":"234970006; C0399378; C538216; MEDGEN:97995; MONDO:0007442; OMIM:125500; ORPHA:166265","USA_Estimate__c":null,"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":null,"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":1,"Description_Source__c":"MONDO:0007442","Disease_Description__c":"Dentinogenesis imperfecta type 3 (DGI-3) is a rare, severe form of dentinogenesis imperfecta (DGI, see this term) characterized by opalescent primary and permanent teeth, marked attrition, large pulp chambers, multiple pulp exposure and shell teeth radiographically (i.e. teeth which appear hollow due to dentin hypotrophy).","GARD_Name__c":"Dentinogenesis imperfecta type 3","GARD_Synonym__c":"brandywine type dentinogenesis imperfecta; brandywine type of dentinogenesis imperfecta; dentinogenesis imperfecta - shield's type iii; dentinogenesis imperfecta shields type 3; dentinogenesis imperfecta type iii; dentinogenesis imperfecta, shields type 3; dentinogenesis imperfecta, shields type iii; dgi-iii","Curated_Disease_Description_Source__c":"GARD:0010144","Curated_Disease_Description__c":"Dentinogenesis imperfecta type 3 is a rare and severe form of dentinogenesis imperfecta, a condition that affects tooth development. People affected by this condition generally have discolored (most often a blue-gray or yellow-brown color) and translucent teeth. Teeth are also weaker than normal, making them prone to rapid wear, breakage, and loss. These problems can affect both primary (baby) teeth and permanent teeth. Dentinogenesis imperfecta type 3 is caused by changes in the DSPP gene which are inherited in an autosomal dominant manner.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:166265","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007442","ORPHANET_ID__c":"ORPHA:166265","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Dentinogénesis imperfecta tipo 3","Spanish_Description_Source__c":"ORPHA:166265","Spanish_Description__c":"La dentinogénesis imperfecta tipo 3 (DGI-3) es una forma grave, poco frecuente, de dentinogénesis imperfecta (DGI; ver este término) que se caracteriza por dientes primarios y permanentes opalescentes, atrición marcada de la dentina, cámaras pulpares grandes, exposiciones pulpares múltiples y un aspecto radiográfico característico en cáscara de los dientes (es decir, dientes que aparecen huecos por hipotrofia de la dentina).","Spanish_Disease_Name__c":"dentinogénesis imperfecta tipo 3","Spanish_GARD_Synonym__c":"dentinogénesis imperfecta de shields tipo 3; dentinogénesis imperfecta shields tipo  3","Category_Linearization__c":"ORPHA:98026","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":"Dentinogenesis imperfecta type 3 is a rare and severe form of dentinogenesis imperfecta, a condition that affects tooth development. People affected by this condition generally have discolored (most often a blue-gray or yellow-brown color) and translucent teeth. Teeth are also weaker than normal, making them prone to rapid wear, breakage, and loss. These problems can affect both primary (baby) teeth and permanent teeth. Dentinogenesis imperfecta type 3 is caused by changes in the DSPP gene which are inherited in an autosomal dominant manner.","Curated_Disease_Description_Source__c":"GARD:0010144","GARD_Synonym__c":"brandywine type dentinogenesis imperfecta; brandywine type of dentinogenesis imperfecta; dentinogenesis imperfecta - shield's type iii; dentinogenesis imperfecta shields type 3; dentinogenesis imperfecta type iii; dentinogenesis imperfecta, shields type 3; dentinogenesis imperfecta, shields type iii; dgi-iii","Name":"Dentinogenesis imperfecta type 3","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Osteogenesis Imperfecta Foundation","Website__c":"https://oif.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":"Odontology","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:166265"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010144","Source__c":"RareSource"},{"URL__c":"https://www.omim.org/entry/125500","Source__c":"C0399378; MONDO:0007442; ORPHA:166265","Xref__c":"OMIM:125500"},{"URL__c":"https://www.orpha.net/en/disease/detail/166265","Source__c":"C0399378; MONDO:0007442; ORPHA:166265","Xref__c":"ORPHA:166265"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=234970006","Source__c":"C0399378; MONDO:0007442","Xref__c":"234970006"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=97995","Source__c":"C0399378","Xref__c":"MEDGEN:97995"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538216","Source__c":"MONDO:0007442","Xref__c":"C538216"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0399378","Source__c":"C0399378","Xref__c":"C0399378"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007442","Source__c":"GARD:0010144","Xref__c":"MONDO:0007442"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"DSPP","GHR_URL__c":"https://medlineplus.gov/genetics/gene/dspp","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:125500","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:125500","Feature__r":{"HPO_Description__c":"Radiolucency (reflecting a reduction in the bony substance) around the apex (the tip of the dental root).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000700","HPO_Synonym__c":"Dark spot around tooth root on x-ray; Periapical lesion","HPO_Name__c":"Periapical bone loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:125500","Feature__r":{"HPO_Description__c":"The presence of small depressions in the dental enamel.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009722","HPO_Synonym__c":"Dental enamel pits; Dental enamel pitting; Pitting of tooth enamel; Tooth enamel pits","HPO_Name__c":"Dental enamel pits","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:125500","Feature__r":{"HPO_Description__c":"The diagnosis odontodysplasia requires clinical and radiological exams, in which unusually large pulp chambers and large pulp room chambers with thin enamel and dentin are visible. It may affect either a single tooth or several teeth. The term regional odontodysplasia is used if several teeth are affected. It affects the deciduous and permanent dentitions in the maxilla, the mandible or both, although the maxilla is more frequently involved. A type of dental dysplasia occurring in dentinogenesis imperfecta in which the pulp chambers are enlarged and there is a reduced amount of coronal dentin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000694","HPO_Synonym__c":"Ghost teeth; Shell teeth; Teeth with dentinal dysplasia; Teeth with thin dentin and large pulp chambers; Teeth with type iii dentinogenesis imperfecta","HPO_Name__c":"Odontodysplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:125500","Feature__r":{"HPO_Description__c":"Anterior open bite is a malocclusion characterized by a gap between the anterior teeth (incisors), that is, by a deficiency in the normal vertical overlap between antagonist incisal edges when the posterior teeth are in occlusion.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009102","HPO_Synonym__c":"Absence of overlap of anterior upper and lower teeth; Anterior open bite; Anterior open bite between upper and lower teeth; Anterior openbite; AOB; Apertognathia malocclusion; Gap between upper and lower front teeth when biting","HPO_Name__c":"Anterior open-bite malocclusion","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Odontology","Pediatrics"]},"synonyms":["brandywine type dentinogenesis imperfecta"," brandywine type of dentinogenesis imperfecta"," dentinogenesis imperfecta - shield's type iii"," dentinogenesis imperfecta shields type 3"," dentinogenesis imperfecta type iii"," dentinogenesis imperfecta, shields type 3"," dentinogenesis imperfecta, shields type iii"," dgi-iii"]}