RASopathy

RASopathies are developmental syndromes caused by changes or mutations in certain genes. These changes affect the Ras subfamily of proteins, as well as related proteins known as mitogen-activated protein kinases. This group of conditions can sometimes occur because of a mutation that is present from birth, and in rare cases, the mutation may be present in some cells of the body instead of all cells. People with these conditions may experience issues related to development because of these gene changes. The term 'RASopathy' covers a range of syndromes that share this common genetic origin, which affects the way cells grow and communicate with one another.

Information about symptoms is currently limited for this condition.

RASopathies are caused by germline mutations, and in some rare cases by somatic mosaicism. These genetic changes alter the function of proteins in the Ras subfamily and the related mitogen-activated protein kinases. This disruption in normal cell signaling is the core cause behind the developmental syndromes seen in people with this condition.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.