{"Name":"Gingival fibromatosis-progressive deafness syndrome","DiseaseID__c":"GARD:0003056","id":3056,"encodedName":"gingival-fibromatosis-progressive-deafness-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Gingival fibromatosis-progressive deafness syndrome","Xref_IDs__c":"722449007; C1851112; C535886; MEDGEN:341928; MONDO:0007612; OMIM:135550; ORPHA:2027","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":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0007612","Disease_Description__c":"A rare syndrome characterized by gingival fibromatosis associated with progressive sensorineural hearing loss. It has been described in two families (with at least 16 affected members spanning five generations in one of the families, and five affected members spanning three generations in the other family). It is transmitted as an autosomal dominant trait.","GARD_Name__c":"Gingival fibromatosis-progressive deafness syndrome","GARD_Synonym__c":"gingival  fibromatosis with progressive deafness; gingival fibromatosis with progressive deafness syndrome; gingival fibromatosis with sensorineural hearing loss; gingival fibromatosis-progressive hearing loss syndrome; jones syndrome","Curated_Disease_Description_Source__c":"GARD:0003056","Curated_Disease_Description__c":"Gingival fibromatosis-progressive deafness syndrome, also known as Jones syndrome, is a very rare condition characterized by gingival fibromatosis (enlargement and overgrowth of the gums) and progressive, sensorineural hearing loss. Excessive growth of the gums may cause displacement of teeth, over-retention of primary teeth, and increased spacing. Jones syndrome is inherited in an autosomal dominant manner, but the underlying genetic cause is not yet known. Only a few families with Jones syndrome have been reported.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:2027","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007612","ORPHANET_ID__c":"ORPHA:2027","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de fibromatosis gingival-sordera progresiva","Spanish_Description_Source__c":"ORPHA:2027","Spanish_Description__c":"Es un síndrome poco frecuente caracterizado por fibromatosis gingival asociada a pérdida auditiva sensorineural progresiva. Se ha descrito en dos familias (con al menos 16 miembros afectados a lo largo de cinco generaciones en una de las familias, y cinco miembros afectados a lo largo de tres generaciones en la otra familia). Se transmite como un rasgo autosómico dominante.","Spanish_Disease_Name__c":"síndrome de fibromatosis gingival-sordera progresiva","Spanish_GARD_Synonym__c":"síndrome de fibromatosis gingival-hipoacusia progresiva; síndrome de jones","Category_Linearization__c":"ORPHA:93890","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":"Gingival fibromatosis-progressive deafness syndrome, also known as Jones syndrome, is a very rare condition characterized by gingival fibromatosis (enlargement and overgrowth of the gums) and progressive, sensorineural hearing loss. Excessive growth of the gums may cause displacement of teeth, over-retention of primary teeth, and increased spacing. Jones syndrome is inherited in an autosomal dominant manner, but the underlying genetic cause is not yet known. Only a few families with Jones syndrome have been reported.","Curated_Disease_Description_Source__c":"GARD:0003056","GARD_Synonym__c":"gingival  fibromatosis with progressive deafness; gingival fibromatosis with progressive deafness syndrome; gingival fibromatosis with sensorineural hearing loss; gingival fibromatosis-progressive hearing loss syndrome; jones syndrome","Name":"Gingival fibromatosis-progressive deafness syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"FACES: The National Craniofacial Association","Website__c":"https://www.faces-cranio.org/"},{"Account_Name__c":"Children's Craniofacial Association","Website__c":"https://ccakids.org/"},{"Account_Name__c":"World Craniofacial Foundation","Website__c":"https://www.worldcf.org/"},{"Account_Name__c":"Hearing Loss Association of America","Website__c":"https://www.hearingloss.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":"Otolaryngology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Odontology","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:2027"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=341928","Source__c":"C1851112","Xref__c":"MEDGEN:341928"},{"URL__c":"https://www.orpha.net/en/disease/detail/2027","Source__c":"C1851112; MONDO:0007612; ORPHA:2027","Xref__c":"ORPHA:2027"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=722449007","Source__c":"C1851112; MONDO:0007612","Xref__c":"722449007"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1851112","Source__c":"C1851112","Xref__c":"C1851112"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535886","Source__c":"MONDO:0007612","Xref__c":"C535886"},{"URL__c":"https://www.omim.org/entry/135550","Source__c":"C1851112; MONDO:0007612; ORPHA:2027","Xref__c":"OMIM:135550"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007612","Source__c":"GARD:0003056","Xref__c":"MONDO:0007612"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2027","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"}},{"Provided_By__c":"ORPHA:2027","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:2027","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000407","HPO_Synonym__c":"Hearing loss, sensorineural; Sensorineural deafness; Sensorineural hearing loss","HPO_Name__c":"Sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2027","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000684","HPO_Synonym__c":"Delayed dental development; Delayed dental eruption; Delayed eruption; Delayed eruption of teeth; Delayed teeth eruption; Delayed tooth eruption; Eruption, delayed; Late eruption of teeth; Late tooth eruption","HPO_Name__c":"Delayed eruption of teeth","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Otolaryngology","Odontology"]},"synonyms":["gingival  fibromatosis with progressive deafness"," gingival fibromatosis with progressive deafness syndrome"," gingival fibromatosis with sensorineural hearing loss"," gingival fibromatosis-progressive hearing loss syndrome"," jones syndrome"]}