{"Name":"Amelogenesis imperfecta","DiseaseID__c":"GARD:0005791","id":5791,"encodedName":"amelogenesis-imperfecta","IsDeleted":false,"Disease_Name_Full__c":"Amelogenesis imperfecta","Xref_IDs__c":"78494001; C0002452; D000567; DOID:2187; HP:0000705; MEDGEN:240; MONDO:0019507; OMIMPS:104500; ORPHA:88661","USA_Estimate__c":"200,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"5,000,000 to 7,000,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0019507","Disease_Description__c":"A rare genetic odontal or periodontal disorder that represents a group of developmental conditions affecting the structure and clinical appearance of the enamel of all or nearly all the teeth in a more or less equal manner, and which may be associated with morphologic or biochemical changes elsewhere in the body.","GARD_Name__c":"Amelogenesis imperfecta","GARD_Synonym__c":"ai; ai - amelogenesis imperfecta; congenital enamel hypoplasia","Curated_Disease_Description_Source__c":"GARD:0005791","Curated_Disease_Description__c":"Amelogenesis imperfecta is a group of disorders of tooth development. In people with this condition, tooth enamel does not form properly. Tooth enamel is the hard, white material that is mainly made of mineral crystals and forms the protective outer layer of each tooth. People with amelogenesis imperfecta may have teeth that appear (erupt) later than normal, and their teeth may be unusually small, discolored, pitted, or grooved. Affected individuals can also have misalignment of the top and bottom teeth (malocclusion). Because of these teeth problems, people with amelogenesis imperfecta often have difficulty eating, sensitivity to certain foods and drinks, and pain when brushing their teeth. Their teeth are also prone to rapid wear, frequent cavities, and breakage. Other dental abnormalities are also possible. These problems can affect both primary (baby) teeth and permanent (adult) teeth. Because amelogenesis imperfecta causes changes in a person's appearance, the condition can profoundly affect quality of life and self-esteem if not treated. In some people, the condition can lead to avoidance of social activities, anxiety, and other emotional or psychological issues. Researchers have described at least four forms of amelogenesis imperfecta: hypoplastic (also referred to as type I), hypomaturation (type II), hypocalcified (type III), and hypomaturation and hypocalcified with taurodontism (type IV). These types are generally distinguished by their specific enamel abnormalities. The hypoplastic type is defined by thin enamel, the hypomaturation type is defined by weak or brittle enamel, and the hypocalcified type is defined by soft enamel. The hypomaturation and hypocalcified with taurodontism type involves weak and soft enamel and teeth that are too large for the size of their roots, which are small (this combination is known as taurodontism). These four types of amelogenesis imperfecta are further divided into subtypes according to their pattern of inheritance and their genetic cause. Some doctors simplify the classification of amelogenesis imperfecta by grouping structural problems with enamel into one group (quantitative enamel defect) and strength or hardness issues with enamel into a second group (qualitative enamel defect). Amelogenesis imperfecta can occur without any other signs and symptoms (isolated) or it can occur as part of a syndrome that affects multiple parts of the body (syndromic). A subtype of type I, known as amelogenesis imperfecta type IG, can affect the kidneys and is called enamel-renal syndrome. People with this condition may develop calcium deposits in the kidneys (nephrocalcinosis) later in life.","Curated_USA_Estimate_Source__c":"Orphanet (US estimate)","Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:88661","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0019507","ORPHANET_ID__c":"ORPHA:88661","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Amelogénesis imperfecta","Spanish_Description_Source__c":"ORPHA:88661","Spanish_Description__c":"Es un trastorno genético dental o periodontal poco frecuente que representa un grupo de trastornos del desarrollo que afectan a la estructura y la apariencia clínica del esmalte de todos o casi todos los dientes de forma similar y que pueden estar asociados con cambios morfológicos o bioquímicos en otras partes del cuerpo.","Spanish_Disease_Name__c":"amelogénesis imperfecta","Spanish_GARD_Synonym__c":null,"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":"Amelogenesis imperfecta is a group of disorders of tooth development. In people with this condition, tooth enamel does not form properly. Tooth enamel is the hard, white material that is mainly made of mineral crystals and forms the protective outer layer of each tooth. People with amelogenesis imperfecta may have teeth that appear (erupt) later than normal, and their teeth may be unusually small, discolored, pitted, or grooved. Affected individuals can also have misalignment of the top and bottom teeth (malocclusion). Because of these teeth problems, people with amelogenesis imperfecta often have difficulty eating, sensitivity to certain foods and drinks, and pain when brushing their teeth. Their teeth are also prone to rapid wear, frequent cavities, and breakage. Other dental abnormalities are also possible. These problems can affect both primary (baby) teeth and permanent (adult) teeth. Because amelogenesis imperfecta causes changes in a person's appearance, the condition can profoundly affect quality of life and self-esteem if not treated. In some people, the condition can lead to avoidance of social activities, anxiety, and other emotional or psychological issues. Researchers have described at least four forms of amelogenesis imperfecta: hypoplastic (also referred to as type I), hypomaturation (type II), hypocalcified (type III), and hypomaturation and hypocalcified with taurodontism (type IV). These types are generally distinguished by their specific enamel abnormalities. The hypoplastic type is defined by thin enamel, the hypomaturation type is defined by weak or brittle enamel, and the hypocalcified type is defined by soft enamel. The hypomaturation and hypocalcified with taurodontism type involves weak and soft enamel and teeth that are too large for the size of their roots, which are small (this combination is known as taurodontism). These four types of amelogenesis imperfecta are further divided into subtypes according to their pattern of inheritance and their genetic cause. Some doctors simplify the classification of amelogenesis imperfecta by grouping structural problems with enamel into one group (quantitative enamel defect) and strength or hardness issues with enamel into a second group (qualitative enamel defect). Amelogenesis imperfecta can occur without any other signs and symptoms (isolated) or it can occur as part of a syndrome that affects multiple parts of the body (syndromic). A subtype of type I, known as amelogenesis imperfecta type IG, can affect the kidneys and is called enamel-renal syndrome. People with this condition may develop calcium deposits in the kidneys (nephrocalcinosis) later in life.","Curated_Disease_Description_Source__c":"GARD:0005791","GARD_Synonym__c":"ai; ai - amelogenesis imperfecta; congenital enamel hypoplasia","Name":"Amelogenesis imperfecta","Curated_USA_Estimate__c":"50,000","Curated_USA_Estimate_Source__c":"Orphanet (US estimate)","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"}],"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":"Infancy","Provided_By__c":"ORPHA:88661"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:88661"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0002452"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C000567","Source__c":"C0002452; MONDO:0019507","Xref__c":"D000567"},{"URL__c":"https://www.orpha.net/en/disease/detail/88661","Source__c":"C0002452; MONDO:0019507; ORPHA:88661","Xref__c":"ORPHA:88661"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS104500","Source__c":"MONDO:0019507","Xref__c":"OMIMPS:104500"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A2187","Source__c":"MONDO:0019507","Xref__c":"DOID:2187"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0002452","Source__c":"C0002452","Xref__c":"C0002452"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=78494001","Source__c":"C0002452; MONDO:0019507","Xref__c":"78494001"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=240","Source__c":"C0002452","Xref__c":"MEDGEN:240"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0000705","Source__c":"C0002452","Xref__c":"HP:0000705"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019507","Source__c":"GARD:0005791","Xref__c":"MONDO:0019507"},{"URL__c":"https://medlineplus.gov/genetics/condition/amelogenesis-imperfecta","Source__c":"GARD:0005791","Xref__c":"https://medlineplus.gov/genetics/condition/amelogenesis-imperfecta"}],"Inheritance__c":["Autosomal recessive","X-linked dominant","Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:88661","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A tendency of teeth to fracture as manifested by a history of repeated fracture of the dental enamel without adequate trauma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025124","HPO_Synonym__c":"Enamel with tendency to chip; Spontaneous tooth fracture","HPO_Name__c":"Fragile teeth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:88661","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of multiple embedded tooth germs which have failed to erupt.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006283","HPO_Synonym__c":"Failure of eruption of multiple teeth; Multiple non-erupting teeth; Multiple unerupted teeth","HPO_Name__c":"Multiple unerupted teeth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:88661","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Developmental hypoplasia of the dental enamel.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006297","HPO_Synonym__c":"Dental enamel hypoplasia; Enamel hypotrophy; Enamel, underdeveloped; Hypoplasia of dental enamel; Hypoplasia of tooth enamel; Underdeveloped teeth enamel","HPO_Name__c":"Enamel hypoplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:88661","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006286","HPO_Synonym__c":"Yellow-brown discoloration of the teeth; Yellow-brown discolored teeth; Yellow-brown tooth shade","HPO_Name__c":"Yellow-brown discoloration of the teeth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:88661","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased spaces (diastemata) between most of the teeth in the same dental arch.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000687","HPO_Synonym__c":"Generalized dental spacing; Generalized spacing of teeth; Multiple diastemata; Wide-spaced teeth; Widely spaced teeth; Widely-spaced teeth","HPO_Name__c":"Widely spaced teeth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:88661","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal reduction in the ability to masticate (chew), i.e., in the ability to crush and ground food in preparation for swallowing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005216","HPO_Synonym__c":"Chewing difficulties; Chewing difficulty; Difficulty chewing","HPO_Name__c":"Impaired mastication","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:88661","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A structural anomaly of the jaw, the bony structure of the mouth that consists of the mandible and the maxilla.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030791","HPO_Name__c":"Abnormal jaw morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:88661","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A form of hypomineralization of enamel characterized by reduced calcification.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011084","HPO_Synonym__c":"Decreased enamel calcification; Poorly calcified tooth enamel","HPO_Name__c":"Hypocalcification of dental enamel","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:88661","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A decreased amount of enamel mineralization. Hypomineralized enamel has a brown discoloration and brittle aspect.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006285","HPO_Synonym__c":"Decreased enamel mineralisation; Hypomineralization of enamel; Mottled tooth enamel; Poorly mineralized tooth enamel","HPO_Name__c":"Enamel hypomineralization","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:88661","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Developmental hypoplasia of teeth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000685","HPO_Synonym__c":"Hypoplastic teeth","HPO_Name__c":"Hypoplasia of teeth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:88661","HPO_Frequency__c":"Frequent (30-79%)","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"}},{"Provided_By__c":"ORPHA:88661","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased volume of dental pulp of permanent molar characterized by a crown body-root ratio equal or larger than 1:1 or an elongated pulp chambers and apical displacement of the bifurcation or trifurcation of the roots.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000679","HPO_Synonym__c":"Taurodont; Taurodontism","HPO_Name__c":"Taurodontia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:88661","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A form of hypomineralization of enamel characterized by a chalky appearance of the enamel with orange, brown, or white color.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011085","HPO_Synonym__c":"Immature tooth enamel","HPO_Name__c":"Hypomature dental enamel","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:88661","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of morphology of permanent molar.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011071","HPO_Synonym__c":"Abnormality of permanent molar morphology; Abnormality of shape of adult molar; Abnormality of shape of permanent molar","HPO_Name__c":"Abnormal permanent molar morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:88661","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A developmental defect of tooth color.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011073","HPO_Synonym__c":"Abnormality of dental color; Abnormality of dental shade; Abnormality of tooth color; Abnormality of tooth shade","HPO_Name__c":"Abnormality of dental color","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:88661","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any abnormality of dentin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010299","HPO_Synonym__c":"Abnormal dentin; Abnormality of dentin; Abnormality of dentine; Dentin anomaly","HPO_Name__c":"Abnormal dentin morphology","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Odontology","Pediatrics"]},"synonyms":["ai"," ai - amelogenesis imperfecta"," congenital enamel hypoplasia"],"spanishId":12002,"spanishName":"amelogenesis-imperfecta"}