{"Name":"Hereditary gingival fibromatosis","DiseaseID__c":"GARD:0016582","id":16582,"encodedName":"hereditary-gingival-fibromatosis","IsDeleted":false,"Disease_Name_Full__c":"Hereditary gingival fibromatosis","Xref_IDs__c":"109620006; C0399440; DOID:0060466; MEDGEN:140775; MONDO:0016070; OMIMPS:135300; ORPHA:2024","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":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0016070","Disease_Description__c":"Hereditary gingival fibromatosis (HGF) is a rare benign, slowly progressive, non-inflammatory fibrous hyperplasia of the maxillary and mandibular gingivae that generally occurs with the eruption of the permanent (or more rarely the primary) dentition or even at birth. It presents as a localized or generalized, smooth or nodular overgrowth of the gingival tissues of varying severity. It can be isolated, with autosomal dominant inheritance, or as part of a syndrome.","GARD_Name__c":"Hereditary gingival fibromatosis","GARD_Synonym__c":"autosomal dominant gingival fibromatosis; autosomal dominant gingival hyperplasia; hereditary fibrous enlargement of gingiva; hereditary gingival hyperplasia; hgf","Curated_Disease_Description_Source__c":"MONDO:0016070","Curated_Disease_Description__c":"Hereditary gingival fibromatosis (HGF) is a rare benign, slowly progressive, non-inflammatory fibrous hyperplasia of the maxillary and mandibular gingivae that generally occurs with the eruption of the permanent (or more rarely the primary) dentition or even at birth. It presents as a localized or generalized, smooth or nodular overgrowth of the gingival tissues of varying severity. It can be isolated, with autosomal dominant inheritance, or as part of a syndrome.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:2024","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0016070","ORPHANET_ID__c":"ORPHA:2024","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Fibromatosis gingival hereditaria","Spanish_Description_Source__c":"ORPHA:2024","Spanish_Description__c":"La fibromatosis gingival hereditaria (HGF) es una hiperplasia fibrosa no inflamatoria, de progresión lenta, poco frecuente y benigna, de las encías maxilares y mandibulares que generalmente se produce con la erupción de la dentición permanente (o más raramente de la primaria) o incluso en el nacimiento. Se presenta como un sobrecrecimiento blando o nodular, localizado o generalizado, de los tejidos gingivales y de gravedad variable. Puede ser aislado, con herencia autosómica dominante, o como parte de un síndrome.","Spanish_Disease_Name__c":"fibromatosis gingival hereditaria","Spanish_GARD_Synonym__c":"fibromatosis gingival autosómica dominante; hiperplasia gingival autosómica dominante; hiperplasia gingival hereditaria","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":"Hereditary gingival fibromatosis (HGF) is a rare benign, slowly progressive, non-inflammatory fibrous hyperplasia of the maxillary and mandibular gingivae that generally occurs with the eruption of the permanent (or more rarely the primary) dentition or even at birth. It presents as a localized or generalized, smooth or nodular overgrowth of the gingival tissues of varying severity. It can be isolated, with autosomal dominant inheritance, or as part of a syndrome.","Curated_Disease_Description_Source__c":"MONDO:0016070","GARD_Synonym__c":"autosomal dominant gingival fibromatosis; autosomal dominant gingival hyperplasia; hereditary fibrous enlargement of gingiva; hereditary gingival hyperplasia; hgf","Name":"Hereditary gingival fibromatosis","estimateUsa":""}],"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":"All ages","Provided_By__c":"ORPHA:2024"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/2024","Source__c":"C0399440; MONDO:0016070; ORPHA:2024","Xref__c":"ORPHA:2024"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS135300","Source__c":"MONDO:0016070","Xref__c":"OMIMPS:135300"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0399440","Source__c":"C0399440","Xref__c":"C0399440"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=109620006","Source__c":"C0399440; MONDO:0016070","Xref__c":"109620006"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060466","Source__c":"MONDO:0016070","Xref__c":"DOID:0060466"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=140775","Source__c":"C0399440","Xref__c":"MEDGEN:140775"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016070","Source__c":"GARD:0016582","Xref__c":"MONDO:0016070"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"REST","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"SOS1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/sos1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2024","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hyperplasia of the gingiva (that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000212","HPO_Synonym__c":"Gingival enlargement; Gingival hyperplasia; Gum enlargement; Gum hypertrophy; Hypertrophic gingivitis","HPO_Name__c":"Gingival overgrowth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2024","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of fibrosis of the gingiva.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000169","HPO_Synonym__c":"Gingival fibroma; Gingival fibrous nodules","HPO_Name__c":"Gingival fibromatosis","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Odontology","Pediatrics"]},"synonyms":["autosomal dominant gingival fibromatosis"," autosomal dominant gingival hyperplasia"," hereditary fibrous enlargement of gingiva"," hereditary gingival hyperplasia"," hgf"]}