{"Name":"Amelogenesis imperfecta type 2A1","DiseaseID__c":"GARD:0009495","id":9495,"encodedName":"amelogenesis-imperfecta-type-2a1","IsDeleted":false,"Disease_Name_Full__c":"Amelogenesis imperfecta type 2A1","Xref_IDs__c":"C2673922; C538242; C567146; DOID:0110057; MEDGEN:436039; MONDO:0008772; OMIM:204700","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":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0008772","Disease_Description__c":"Any amelogenesis imperfecta in which the cause of the disease is a mutation in the KLK4 gene.","GARD_Name__c":"Amelogenesis imperfecta type 2A1","GARD_Synonym__c":"ai2a1; amelogenesis imperfecta caused by mutation in klk4; amelogenesis imperfecta pigmented hypomaturation type 1; amelogenesis imperfecta type iia1; amelogenesis imperfecta, pigmented hypomaturation type, 1; amelogenesis imperfecta, type iia1; klk4 amelogenesis imperfecta","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Amelogenesis imperfecta, hypomaturation type, IIA1 is a disease that affects the enamel of teeth. The enamel is the hard outer layer of the tooth. Enamel protects teeth from damage. In this disease, the enamel is of normal thickness but is not as hard as it should be. It has a spotty appearance and can easily come off the tooth. X-rays show that the enamel and the layer underneath it, called dentin, look the same. This disease is caused by changes in the KLK4 gene. If follows an autosomal recessive pattern of inheritance.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:204700","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008772","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":"Amelogenesis imperfecta, hypomaturation type, IIA1 is a disease that affects the enamel of teeth. The enamel is the hard outer layer of the tooth. Enamel protects teeth from damage. In this disease, the enamel is of normal thickness but is not as hard as it should be. It has a spotty appearance and can easily come off the tooth. X-rays show that the enamel and the layer underneath it, called dentin, look the same. This disease is caused by changes in the KLK4 gene. If follows an autosomal recessive pattern of inheritance.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"ai2a1; amelogenesis imperfecta caused by mutation in klk4; amelogenesis imperfecta pigmented hypomaturation type 1; amelogenesis imperfecta type iia1; amelogenesis imperfecta, pigmented hypomaturation type, 1; amelogenesis imperfecta, type iia1; klk4 amelogenesis imperfecta","Name":"Amelogenesis imperfecta type 2A1","estimateUsa":""}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009495","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2673922","Source__c":"C2673922","Xref__c":"C2673922"},{"URL__c":"https://www.omim.org/entry/204700","Source__c":"C2673922; MONDO:0008772","Xref__c":"OMIM:204700"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=436039","Source__c":"C2673922","Xref__c":"MEDGEN:436039"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110057","Source__c":"MONDO:0008772","Xref__c":"DOID:0110057"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C567146","Source__c":"MONDO:0008772","Xref__c":"C567146"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538242","Source__c":"MONDO:0008772","Xref__c":"C538242"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008772","Source__c":"GARD:0009495","Xref__c":"MONDO:0008772"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"KLK4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:204700","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":"OMIM:204700","Feature__r":{"HPO_Description__c":"Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000670","HPO_Synonym__c":"Caries; Cariosity of teeth; Dental caries; Dental cavities; Early dental caries; Frequent caries; Tooth cavities; Tooth decay","HPO_Name__c":"Carious teeth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:204700","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":"OMIM:204700","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A developmental dysplasia of the dental enamel.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000705","HPO_Name__c":"Amelogenesis imperfecta","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:204700","HPO_Frequency__c":"Very frequent (80-99%)","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"}}],"tags":{},"synonyms":["ai2a1"," amelogenesis imperfecta caused by mutation in klk4"," amelogenesis imperfecta pigmented hypomaturation type 1"," amelogenesis imperfecta type iia1"," amelogenesis imperfecta, pigmented hypomaturation type, 1"," amelogenesis imperfecta, type iia1"," klk4 amelogenesis imperfecta"]}