{"Name":"Cutaneous collagenous vasculopathy","DiseaseID__c":"GARD:0012428","id":12428,"encodedName":"cutaneous-collagenous-vasculopathy","IsDeleted":false,"Disease_Name_Full__c":"Cutaneous collagenous vasculopathy","Xref_IDs__c":"718634003; C4305323; MEDGEN:930992; MONDO:0017242; ORPHA:280779","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":2,"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":2,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0017242","Disease_Description__c":"Cutaneous collagenous vasculopathy (CCV) is a primary microangiopathy confined to the skin, characterized by multiple and widespread telangiectasias.","GARD_Name__c":"Cutaneous collagenous vasculopathy","GARD_Synonym__c":"ccv","Curated_Disease_Description_Source__c":"MONDO:0017242","Curated_Disease_Description__c":"Cutaneous collagenous vasculopathy (CCV) is a primary microangiopathy confined to the skin, characterized by multiple and widespread telangiectasias.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:280779","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017242","ORPHANET_ID__c":"ORPHA:280779","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Vasculopatía colágena cutánea","Spanish_Description_Source__c":"ORPHA:280779","Spanish_Description__c":"La vasculopatía colágena cutánea (CCV) es una microangiopatía primaria limitada a la piel, que se caracteriza por telangiectasias múltiples y generalizadas.","Spanish_Disease_Name__c":"vasculopatía colágena cutánea","Spanish_GARD_Synonym__c":"vcc","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":"Cutaneous collagenous vasculopathy (CCV) is a primary microangiopathy confined to the skin, characterized by multiple and widespread telangiectasias.","Curated_Disease_Description_Source__c":"MONDO:0017242","GARD_Synonym__c":"ccv","Name":"Cutaneous collagenous vasculopathy","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"GARD_Disease_Tag__c":[{"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":"Vascular Medicine","Tag_Category__c":"Specialist","curated_tag_name":"Vascular diseases"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:280779"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=718634003","Source__c":"C4305323; MONDO:0017242","Xref__c":"718634003"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=930992","Source__c":"C4305323","Xref__c":"MEDGEN:930992"},{"URL__c":"https://www.orpha.net/en/disease/detail/280779","Source__c":"C4305323; MONDO:0017242; ORPHA:280779","Xref__c":"ORPHA:280779"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4305323","Source__c":"C4305323","Xref__c":"C4305323"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017242","Source__c":"GARD:0012428","Xref__c":"MONDO:0017242"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:280779","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001939","HPO_Synonym__c":"Laboratory abnormality; Metabolism abnormality","HPO_Name__c":"Abnormality of metabolism/homeostasis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:280779","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012733","HPO_Synonym__c":"Flat, discolored area of skin","HPO_Name__c":"Macule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:280779","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"Telangiectases (small dilated blood vessels) with a diffuse localization.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007489","HPO_Synonym__c":"Diffuse telangiectases; Telangiectases, random body distribution","HPO_Name__c":"Diffuse telangiectasia","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:280779","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000989","HPO_Synonym__c":"Itching; Itchy skin; Skin itching","HPO_Name__c":"Pruritus","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:280779","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007394","HPO_Synonym__c":"Prominent superficial blood vessels; Prominent superficial vasculature","HPO_Name__c":"Prominent superficial blood vessels","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:280779","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000978","HPO_Synonym__c":"Bruisability; Bruise easily; Bruising susceptibility; Easy bruisability; Easy bruising","HPO_Name__c":"Bruising susceptibility","Feature_System__c":"Skin System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:280779","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011276","HPO_Synonym__c":"Skin vascular malformation","HPO_Name__c":"Vascular skin abnormality","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:280779","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010783","HPO_Synonym__c":"Redness of skin or mucous membrane","HPO_Name__c":"Erythema","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:280779","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A red eruption of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000988","HPO_Synonym__c":"Skin rash","HPO_Name__c":"Skin rash","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:280779","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000967","HPO_Name__c":"Petechiae","Feature_System__c":"Skin System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Account":["Dermatology"],"Disease Category":["Dermatology"],"Specialist":["Dermatology","Vascular Medicine"]},"synonyms":["ccv"]}