{"Name":"Autosomal dominant vibratory urticaria","DiseaseID__c":"GARD:0009806","id":9806,"encodedName":"autosomal-dominant-vibratory-urticaria","IsDeleted":false,"Disease_Name_Full__c":"Autosomal dominant vibratory urticaria","Xref_IDs__c":"238694002; C536347; CN313132; MEDGEN:993058; MONDO:0007447; OMIM:125630; ORPHA:493342","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"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":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0007447","Disease_Description__c":"An autosomal dominant disease characterized by localized hives and systemic manifestations in response to dermal vibration, with coincident degranulation of mast cells and increased histamine levels in serum.","GARD_Name__c":"Autosomal dominant vibratory urticaria","GARD_Synonym__c":"ddu; dermodistortive urticaria; vbu; vibratory urticaria; vibratory urticaria, autosomal dominant","Curated_Disease_Description_Source__c":"GARD:0009806","Curated_Disease_Description__c":"Vibratory urticaria is a rare condition that is characterized by itching, reddish skin and swelling within minutes of local exposure to vibration. Areas of skin that are most exposed to the stimulus (often the hands) are generally more severely affected. People with this condition may also experience flushing, headaches, fatigue, blurry vision or a metallic taste in the mouth during episodes of skin involvement. Common triggers include mowing the lawn, riding a motorcycle, horseback riding, or mountain biking. Vibratory urticaria is caused by changes in the ADGRE2 gene and appears to be inherited in an autosomal dominant manner.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:493342","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007447","ORPHANET_ID__c":"ORPHA:493342","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Urticaria vibratoria","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"urticaria vibratoria","Spanish_GARD_Synonym__c":"angiodema/urticaria vibratorio","Category_Linearization__c":"ORPHA:89826","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":"Vibratory urticaria is a rare condition that is characterized by itching, reddish skin and swelling within minutes of local exposure to vibration. Areas of skin that are most exposed to the stimulus (often the hands) are generally more severely affected. People with this condition may also experience flushing, headaches, fatigue, blurry vision or a metallic taste in the mouth during episodes of skin involvement. Common triggers include mowing the lawn, riding a motorcycle, horseback riding, or mountain biking. Vibratory urticaria is caused by changes in the ADGRE2 gene and appears to be inherited in an autosomal dominant manner.","Curated_Disease_Description_Source__c":"GARD:0009806","GARD_Synonym__c":"ddu; dermodistortive urticaria; vbu; vibratory urticaria; vibratory urticaria, autosomal dominant","Name":"Autosomal dominant vibratory urticaria","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Immunology","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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:493342"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009806","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536347","Source__c":"MONDO:0007447","Xref__c":"C536347"},{"URL__c":"https://www.orpha.net/en/disease/detail/493342","Source__c":"CN313132; MONDO:0007447","Xref__c":"ORPHA:493342"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=238694002","Source__c":"MONDO:0007447","Xref__c":"238694002"},{"URL__c":"https://www.omim.org/entry/125630","Source__c":"MONDO:0007447; ORPHA:493342","Xref__c":"OMIM:125630"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/CN313132","Source__c":"CN313132","Xref__c":"CN313132"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=993058","Source__c":"CN313132","Xref__c":"MEDGEN:993058"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007447","Source__c":"GARD:0009806","Xref__c":"MONDO:0007447"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ADGRE2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/adgre2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:125630","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Recurrent episodes of redness of the skin together with a sensation of warmth or burning of the affected areas of skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031284","HPO_Name__c":"Flushing","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:125630","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001025","HPO_Synonym__c":"Hives","HPO_Name__c":"Urticaria","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:125630","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Redness of the skin of the face, caused by hyperemia of the capillaries in the lower layers of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001041","HPO_Synonym__c":"Blushed cheeks; Blushing; Red face; Red in the face","HPO_Name__c":"Facial erythema","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Immunology","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["ddu"," dermodistortive urticaria"," vbu"," vibratory urticaria"," vibratory urticaria, autosomal dominant"]}