Griscelli syndrome type 1

Griscelli syndrome type 1 is a rare genetic condition that is mainly characterized by a silvery gray sheen to the hair and lighter skin pigmentation compared to others. People with this condition also experience neurological challenges, which can affect various aspects of brain function. The condition is linked to changes in a specific gene, which plays an important role in the movement of pigmentation materials in the skin and hair. While the condition does not include immune system problems, the neurological effects can be significant and are a defining feature of the disease.

Common signs include a unique appearance of the hair with a silvery gray sheen and lighter skin tones due to hypopigmentation. Neurological impairments are also a major feature of the condition. Information about additional symptoms is currently limited.

Griscelli syndrome type 1 is caused by mutations in the MYO5A gene, which is located on chromosome 15q21.2. Changes in this gene disrupt the normal movement and distribution of pigment in the skin and hair, resulting in hypopigmentation, and may also affect neurological development.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

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