Each column keeps its native condition scope. Initial features are displayed alphabetically, not ranked by clinical importance. Counts remain separate, and an empty cell does not mean a feature cannot occur.
"},"coverage":{"countRecords":0,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":2,"sourceGroups":{"omim":1,"orphanet":0,"published":1}},"features":[{"hpoId":"HP:0002584","label":"Intestinal bleeding","primary":false},{"hpoId":"HP:0012721","label":"Venous malformation","primary":false}],"ledeHtml":"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.","mondoId":"MONDO:0010842","records":[{"frequencyKind":"reported","key":"61d717caa8b6c3d8c72f6b02c96bc65eea7b10b2153681dbee8f0ee3acefbb66","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:600195","disease_name":"Venous malformations, multiple cutaneous and mucosal","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002584","is_excluded":false,"label":"Intestinal bleeding","onset_id":null,"reference":"OMIM:600195","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"d33623c8db37e0b212494d8cdff4f49dc623e0052d02bc5a35b19197df5e1400","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:600195","disease_name":"Venous malformations, multiple cutaneous and mucosal","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0012721","is_excluded":false,"label":"Venous malformation","onset_id":null,"reference":"PMID:10369874","source_release":"2026-06-23"},"sourceGroups":["published"]}],"referenceLabels":{},"references":{"causeHtml":"","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"Genetic changes that cause disease or increase the risk of disease are called pathogenic variants. Pathogenic variants in the TEK gene can predispose individuals to develop venous malformations. The TEK gene provides instructions for making a type of protein called a receptor tyrosine kinase. The TEK receptor triggers the release of chemical signals that are needed for forming blood vessels (angiogenesis) and maintaining their structure. This signaling allows communication between two types of cells found within the walls of blood vessels: endothelial cells and smooth muscle cells. Communication between these two cell types is necessary to direct angiogenesis and to maintain the structure and integrity of blood vessels.
The pathogenic variants in the TEK gene that are associated with VMCM cause the TEK receptor to become overactive. Excessive signaling disrupts the normal growth and organization of endothelial cells and their interactions with the surrounding smooth muscle cells. As a result, venous blood vessels may develop abnormally, leading to the venous malformations seen in people with VMCM.
","key":"forms","title":"What causes Multiple cutaneous and mucosal venous malformations?"},{"bodyHtml":"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.
Source: MedlinePlus Genetics
","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"multiple-cutaneous-and-mucosal-venous-malformations","sourceDocuments":[{"name":"Multiple cutaneous and mucosal venous malformations","reviewed":"2009-08","sections":{"causes":{"fetchedAt":"2026-10-20T20:23:32.177917+00:00","label":"Causes","pageSha256":"b0e2bbf7fd2946b964c532fa642c77e605ba0aab498ba087f907355aeb7d4cb1","sourceUrl":"https://medlineplus.gov/genetics/condition/multiple-cutaneous-and-mucosal-venous-malformations/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/multiple-cutaneous-and-mucosal-venous-malformations"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Multiple cutaneous and mucosal venous malformations"},"schemaVersion":1}