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malformation","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0004302","is_excluded":false,"label":"Functional motor deficit","onset_id":null,"reference":"ORPHA:137667","source_release":"2026-06-23"},"sourceGroups":["orphanet"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/capillary-malformation-arteriovenous-malformation-syndrome\">Capillary malformation-arteriovenous malformation syndrome</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>CM-AVM is caused by mutations in the RASA1 gene. This gene provides instructions for making a protein known as p120-RasGAP, which is involved in transmitting chemical signals from outside the cell to the nucleus. These signals help control several important cell functions, including cell growth and division (proliferation), the process by which cells mature to carry out specific functions (differentiation), and cell movement. The role of the p120-RasGAP protein is not fully understood, although it appears to be essential for the normal development of the vascular system.</p><p>Mutations in the RASA1 gene lead to the production of a nonfunctional version of the p120-RasGAP protein. A loss of this protein&#x27;s activity disrupts tightly regulated chemical signaling during development. However, it is unclear how these changes lead to the specific vascular abnormalities seen in people with CM-AVM.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/capillary-malformation-arteriovenous-malformation-syndrome/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Capillary malformation-arteriovenous malformation syndrome?"},{"bodyHtml":"<p>CM-AVM is characterized by capillary malformations (CMs), which are composed of enlarged capillaries that increase blood flow near the surface of the skin. These malformations look like multiple small, round, pink or red spots on the skin. In most affected individuals, capillary malformations occur on the face, arms, and legs. These spots may be visible from birth or may develop during childhood. By themselves, capillary malformations usually do not cause any health problems.</p><p>In some people with CM-AVM, capillary malformations are the only sign of the disorder. However, other affected individuals also have more serious vascular abnormalities known as arteriovenous malformations (AVMs) and arteriovenous fistulas (AVFs). AVMs and AVFs are abnormal connections between arteries, veins, and capillaries that affect blood circulation. Depending on where they occur in the body, these abnormalities can be associated with complications including abnormal bleeding, migraine headaches, seizures, and heart failure. In some cases the complications can be life-threatening. In people with CM-AVM, complications of AVMs and AVFs tend to appear in infancy or early childhood; however, some of these vascular abnormalities never cause any symptoms.</p><p>Some vascular abnormalities seen in CM-AVM are similar to those that occur in a condition called Parkes Weber syndrome. In addition to vascular abnormalities, Parkes Weber syndrome usually involves overgrowth of one limb. CM-AVM and some cases of Parkes Weber syndrome have the same genetic cause.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/capillary-malformation-arteriovenous-malformation-syndrome\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"capillary-malformation-arteriovenous-malformation-syndrome","sourceDocuments":[{"name":"Capillary malformation-arteriovenous malformation syndrome","reviewed":"2011-08","sections":{"causes":{"fetchedAt":"2026-10-20T20:20:02.212346+00:00","label":"Causes","pageSha256":"a524a7c56eb3813ef03efb8f8f5796fe7ce2bb5e65057b338bc06574e6a30e2d","sourceUrl":"https://medlineplus.gov/genetics/condition/capillary-malformation-arteriovenous-malformation-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/capillary-malformation-arteriovenous-malformation-syndrome"}],"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":"Capillary malformation-arteriovenous malformation syndrome"},"schemaVersion":1}