{"Name":"Ehlers-Danlos syndrome, periodontitis type","DiseaseID__c":"GARD:0012474","id":12474,"encodedName":"ehlers-danlos-syndrome-periodontitis-type","IsDeleted":false,"Disease_Name_Full__c":"Ehlers-Danlos syndrome, periodontitis type","Xref_IDs__c":"50869007; C0268347; C562626; MEDGEN:82791; MONDO:0007527; ORPHA:75392","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":6,"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":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0007527","Disease_Description__c":"A rare type of Ehlers-Danlos syndrome characterized by childhood or adolescence onset of severe, intractable periodontitis, lack of attached gingiva, and presence of pretibial plaques. Additional manifestations are easy bruising, hypermobility mainly of the distal joints, skin hyperextensibility and fragility, abnormal scarring, recurrent infections, hernias, marfanoid facial features, acrogeria, and prominent vasculature.","GARD_Name__c":"Ehlers-Danlos syndrome, periodontitis type","GARD_Synonym__c":"eds viii; ehlers-danlos syndrome type 8; ehlers-danlos syndrome type viii; ehlers-danlos syndrome, periodontosis type; ehlers-danlos syndrome, type 8; peds; periodontal eds; periodontal ehlers-danlos syndrome; periodontitis associated with ehlers-danlos syndrome type viii","Curated_Disease_Description_Source__c":"MONDO:0007527","Curated_Disease_Description__c":"A rare type of Ehlers-Danlos syndrome characterized by childhood or adolescence onset of severe, intractable periodontitis, lack of attached gingiva, and presence of pretibial plaques. Additional manifestations are easy bruising, hypermobility mainly of the distal joints, skin hyperextensibility and fragility, abnormal scarring, recurrent infections, hernias, marfanoid facial features, acrogeria, and prominent vasculature.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:75392","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0007527","ORPHANET_ID__c":"ORPHA:75392","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de ehlers-danlos periodontal","Spanish_Description_Source__c":"ORPHA:75392","Spanish_Description__c":"Es una forma poco frecuente del síndrome de Ehlers-Danlos caracteriza por la aparición en la infancia o la adolescencia de periodontitis grave e intratable, ausencia de encía adherida y presencia de placas pretibiales. Otras manifestaciones son: facilidad de aparición de hematomas, hipermovilidad principalmente de las articulaciones distales, hiperextensibilidad y fragilidad de la piel, cicatrices anómalas, infecciones recurrentes, hernias, rasgos faciales marfanoides, acrogeria y vasculatura prominente.","Spanish_Disease_Name__c":"síndrome de ehlers-danlos periodontal","Spanish_GARD_Synonym__c":"sed periodontal; sed viii; síndrome de ehlers-danlos tipo 8; síndrome de ehlers-danlos tipo periodontitis","Category_Linearization__c":"ORPHA:98023","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":"A rare type of Ehlers-Danlos syndrome characterized by childhood or adolescence onset of severe, intractable periodontitis, lack of attached gingiva, and presence of pretibial plaques. Additional manifestations are easy bruising, hypermobility mainly of the distal joints, skin hyperextensibility and fragility, abnormal scarring, recurrent infections, hernias, marfanoid facial features, acrogeria, and prominent vasculature.","Curated_Disease_Description_Source__c":"MONDO:0007527","GARD_Synonym__c":"eds viii; ehlers-danlos syndrome type 8; ehlers-danlos syndrome type viii; ehlers-danlos syndrome, periodontosis type; ehlers-danlos syndrome, type 8; peds; periodontal eds; periodontal ehlers-danlos syndrome; periodontitis associated with ehlers-danlos syndrome type viii","Name":"Ehlers-Danlos syndrome, periodontitis type","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Bobby Jones Chiari & Syringomyelia Foundation","Website__c":"https://bobbyjonescsf.org/"},{"Account_Name__c":"Ehlers-Danlos Society","Website__c":"https://www.ehlers-danlos.com/"},{"Account_Name__c":"The Zebra Network","Website__c":"https://thezebranetwork.org/"},{"Account_Name__c":"EDS Awareness","Website__c":"https://www.chronicpainpartners.com/"}],"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":"Rheumatology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin 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":"Orthopedics","Tag_Category__c":"Specialist"},{"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:75392"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0012474","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK572429","Source__c":"Gene Review","Xref__c":"NBK572429"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C562626","Source__c":"MONDO:0007527","Xref__c":"C562626"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=82791","Source__c":"C0268347","Xref__c":"MEDGEN:82791"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=50869007","Source__c":"C0268347; MONDO:0007527","Xref__c":"50869007"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0268347","Source__c":"C0268347","Xref__c":"C0268347"},{"URL__c":"https://www.orpha.net/en/disease/detail/75392","Source__c":"C0268347; MONDO:0007527; ORPHA:75392","Xref__c":"ORPHA:75392"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007527","Source__c":"GARD:0012474","Xref__c":"MONDO:0007527"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"C1S","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"C1R","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:75392","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000691","HPO_Synonym__c":"Decreased size of tooth; Decreased width of tooth; Small teeth; Small tooth; Tooth hypoplasia; Tooth hypotrophy; Underdeveloped tooth","HPO_Name__c":"Microdontia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:75392","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006308","HPO_Synonym__c":"Atrophy of alveolar margins; Atrophy of alveolar processes of jaw; Resorption of alveolar margins; Resorption of alveolar processes of jaw; Resorption of alveolar ridges; Shrinking of alveolar ridges; Shrinking of gum ridges","HPO_Name__c":"Atrophy of alveolar ridges","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:75392","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Scars that form a depression compared to the level of the surrounding skin because of damage to the collagen, fat or other tissues below the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001075","HPO_Synonym__c":"Sunken or indented skin due to damage; Thin, atrophic scars","HPO_Name__c":"Atrophic scars","Feature_System__c":"Skin System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:75392","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Developmental hypoplasia of the mandible.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000347","HPO_Synonym__c":"Decreased size of lower jaw; Decreased size of mandible; Hypoplasia of lower jaw; Hypoplasia of mandible; Hypoplastic mandible; Hypoplastic mandible condyle; Hypotrophic lower jaw; Hypotrophic mandible; Little lower jaw; Little mandible; Lower jaw deficiency; Lower jaw hypoplasia; Mandibular deficiency; Mandibular hypoplasia; Mandibular micrognathia; Micrognathia of lower jaw; Micromandible; Robin mandible; Severe hypoplasia of mandible; Small jaw; Small lower jaw; Small mandible; Underdevelopment of lower jaw; Underdevelopment of mandible","HPO_Name__c":"Micrognathia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:75392","HPO_Frequency__c":"Frequent (30-79%)","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:75392","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Loss of the primary (also known as deciduous) teeth before the usual age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006323","HPO_Synonym__c":"Early loss of baby teeth; Early loss of deciduous teeth; Early loss of primary teeth; Premature deciduous tooth loss; Premature loss of baby teeth; Premature loss of deciduous teeth","HPO_Name__c":"Premature loss of primary teeth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:75392","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001382","HPO_Synonym__c":"Double-Jointed; Extensible joints; Flexible joints; Hyperextensible joints; Increased joint mobility; Increased mobility of joints; Joint hyperextensibility; Joint hyperflexibility; Joint hyperlaxity; Joint laxity; Joints move beyond expected range of motion; Lax joints; Loose-jointedness","HPO_Name__c":"Joint hypermobility","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:75392","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:75392","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001034","HPO_Synonym__c":"Hyperpigmented macules; Hyperpigmented spots","HPO_Name__c":"Hypermelanotic macule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:75392","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Inflammation of the periodontium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000704","HPO_Synonym__c":"Pyorrhea","HPO_Name__c":"Periodontitis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:75392","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A condition in which the skin can be stretched beyond normal, and then returns to its initial position.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000974","HPO_Synonym__c":"Hyperelastic skin; Skin hyperelasticity; Skin hyperextensibility; Stretchable skin","HPO_Name__c":"Hyperextensible skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:75392","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A congenital defect characterized by the absence of one or more permanent teeth, including oligodontia, hypodontia, and adontia of the of permanent teeth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006349","HPO_Synonym__c":"Absence of adult teeth; Absence of permanent teeth; Absence of secondary dentition; Absent permanent teeth; Agenesis of permanent dentition; Agenesis of secondary dentition; Failure of development of permanent teeth; Failure of development of secondary teeth; Missing permanent teeth; No permanent dentition","HPO_Name__c":"Agenesis of permanent teeth","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Rheumatology","Dermatology","Orthopedics","Odontology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["eds viii"," ehlers-danlos syndrome type 8"," ehlers-danlos syndrome type viii"," ehlers-danlos syndrome, periodontosis type"," ehlers-danlos syndrome, type 8"," peds"," periodontal eds"," periodontal ehlers-danlos syndrome"," periodontitis associated with ehlers-danlos syndrome type viii"]}