CBL-related disorder

CBL-related disorder is a genetic condition caused by changes in the CBL gene. This gene is an important part of the RAS-MAPK pathway, which helps control how cells grow and develop. Because of this, people with CBL-related disorder often show features that are similar to other conditions in the RASopathy group. The condition has a wide range of clinical features. Some individuals have developmental delays, differences in intellectual abilities, and neurodevelopmental issues, while others may also show signs such as heart defects and vascular problems including Moya-moya arteriopathies. Other common features include distinct facial characteristics, low muscle tone (hypotonia), and various physical anomalies. These diverse features are due to the involvement of the CBL gene in many key developmental processes.

People with CBL-related disorder may experience developmental delays, intellectual disability, and changes in neurodevelopment. They might have prenatal lymphatic anomalies and specific heart malformations. Additionally, vascular issues, especially in the brain such as Moya-moya arteriopathies, and distinctive craniofacial features are observed. Other signs include hypotonia, feeding difficulties, musculoskeletal abnormalities, and skin features like cafe-au-lait spots. Some individuals may develop juvenile myelomonocytic leukemia (JMML), which is usually self-remitting.

CBL-related disorder is caused by pathogenic variants in the CBL gene. This gene is part of the RAS-MAPK signaling pathway, which plays a key role in cell growth and development. Changes in this gene can disrupt normal cell functions, leading to the various clinical features seen in this condition.

Information about treatment is currently limited for this condition.

While the risk of juvenile myelomonocytic leukemia (JMML) in people with CBL-related disorder is noted to be usually self-remitting, information about the overall long-term outlook remains limited. The condition shows a broad range of clinical features which makes overall prognosis variable.

Information about current research and future directions is currently limited for this condition.