{"Name":"Multiple cutaneous and mucosal venous malformations","DiseaseID__c":"GARD:0016600","id":16600,"encodedName":"multiple-cutaneous-and-mucosal-venous-malformations","IsDeleted":false,"Disease_Name_Full__c":"Multiple cutaneous and mucosal venous malformations","Xref_IDs__c":"699301008; C1838437; C563977; DOID:0050792; MEDGEN:325026; MONDO:0010842; OMIM:600195; ORPHA:2451","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":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0010842","Disease_Description__c":"Mucocutaneous venous malformations (VMCMs) are hereditary vascular malformations characterized by the presence of small, multifocal, bluish-purple venous lesions involving the skin and mucosa.","GARD_Name__c":"Multiple cutaneous and mucosal venous malformations","GARD_Synonym__c":"cutaneous and mucosal venous malformation; mucocutaneous venous malformations; multiple cutaneous and mucosal venous malformation; multiple venous malformation of skin and mucous membrane; vmcm","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","Curated_Disease_Description__c":"Multiple cutaneous and mucosal venous malformations (also known as VMCM) are bluish patches (lesions) on the skin (cutaneous) and the mucous membranes, such as the lining of the mouth and nose. These lesions represent areas where the underlying veins and other blood vessels did not develop properly (venous malformations). The lesions can be painful, especially when they extend from the skin into the muscles and joints, or when a calcium deposit forms within the lesion causing inflammation and swelling. Most people with VMCM are born with at least one venous malformation. As affected individuals age, the lesions present from birth usually become larger and new lesions often appear. The size, number, and location of venous malformations vary among affected individuals, even among members of the same family.","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:2451","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010842","ORPHANET_ID__c":"ORPHA:2451","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Malformaciones venosas mucocutáneas","Spanish_Description_Source__c":"ORPHA:2451","Spanish_Description__c":"Las malformaciones venosas mucocutáneas (VMCMs) son malformaciones vasculares hereditarias caracterizadas por la presencia de lesiones pequeñas, multifocales, de color azul-violáceo que afectan a la piel y a la mucosa.","Spanish_Disease_Name__c":"malformaciones venosas mucocutáneas","Spanish_GARD_Synonym__c":null,"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":"Multiple cutaneous and mucosal venous malformations (also known as VMCM) are bluish patches (lesions) on the skin (cutaneous) and the mucous membranes, such as the lining of the mouth and nose. These lesions represent areas where the underlying veins and other blood vessels did not develop properly (venous malformations). The lesions can be painful, especially when they extend from the skin into the muscles and joints, or when a calcium deposit forms within the lesion causing inflammation and swelling. Most people with VMCM are born with at least one venous malformation. As affected individuals age, the lesions present from birth usually become larger and new lesions often appear. The size, number, and location of venous malformations vary among affected individuals, even among members of the same family.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","GARD_Synonym__c":"cutaneous and mucosal venous malformation; mucocutaneous venous malformations; multiple cutaneous and mucosal venous malformation; multiple venous malformation of skin and mucous membrane; vmcm","Name":"Multiple cutaneous and mucosal venous malformations","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":"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":"Vascular Medicine","Tag_Category__c":"Specialist","curated_tag_name":"Vascular diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:2451"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1967","Source__c":"Gene Review","Xref__c":"NBK1967"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563977","Source__c":"MONDO:0010842","Xref__c":"C563977"},{"URL__c":"https://www.omim.org/entry/600195","Source__c":"C1838437; MONDO:0010842; ORPHA:2451","Xref__c":"OMIM:600195"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=699301008","Source__c":"C1838437; MONDO:0010842","Xref__c":"699301008"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1838437","Source__c":"C1838437","Xref__c":"C1838437"},{"URL__c":"https://www.orpha.net/en/disease/detail/2451","Source__c":"C1838437; MONDO:0010842; ORPHA:2451","Xref__c":"ORPHA:2451"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050792","Source__c":"MONDO:0010842","Xref__c":"DOID:0050792"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=325026","Source__c":"C1838437","Xref__c":"MEDGEN:325026"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010842","Source__c":"GARD:0016600","Xref__c":"MONDO:0010842"},{"URL__c":"https://medlineplus.gov/genetics/condition/multiple-cutaneous-and-mucosal-venous-malformations","Source__c":"GARD:0016600","Xref__c":"https://medlineplus.gov/genetics/condition/multiple-cutaneous-and-mucosal-venous-malformations"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TEK","GHR_URL__c":"https://medlineplus.gov/genetics/gene/tek","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:600195","Feature__r":{"HPO_Description__c":"A vascular malformation resulting from a developmental error of venous tissue composed of dysmorphic channels lined by flattened endothelium and exhibiting slow turnover. A venous malformation may present as a blue patch on the skin ranging to a soft blue mass. Venous malformations are easily compressible and usually swell in thewhen venous pressure increases (e.g., when held in a dependent position or when a child cries). They may be relatively localized or quite extensive within an anatomic region.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012721","HPO_Synonym__c":"Venous malformations","HPO_Name__c":"Venous malformation","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600195","Feature__r":{"HPO_Description__c":"Bleeding from the intestines.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002584","HPO_Synonym__c":"Intestinal bleeding; Intestinal hemorrhage","HPO_Name__c":"Intestinal bleeding","Feature_System__c":"Cardiovascular System; Digestive System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Vascular Medicine","Pediatrics"]},"synonyms":["cutaneous and mucosal venous malformation"," mucocutaneous venous malformations"," multiple cutaneous and mucosal venous malformation"," multiple venous malformation of skin and mucous membrane"," vmcm"]}