Proteus Syndrome (PROTEUSS)

Alias:

Partial Gigantism-Nevi-Hemihypertrophy-Macrocephaly Syndrome

Proteus Syndrome, Somatic

Gigantism, Partial, of Hands and Feet, Nevi, Hemihypertrophy, and Macrocephaly

Partial Gigantism of Hands and Feet Nevi Hemihypertrophy and Macrocephaly

Gigantism Partial, Nevi, Hemihypertrophy, Macrocephaly

Wiedemann's Syndrome

Proteuss

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Proteus Syndrome, also known as partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome, is related to hemimegalencephaly and lipomatosis, familial multiple. An important gene associated with Proteus Syndrome is AKT1 (AKT Serine/Threonine Kinase 1), and among its related pathways/superpathways are Infectious disease and ERK Signaling. Affiliated tissues include skin and lung, and related phenotypes are scoliosis and kyphosis

Related ID：

MALACARDS：PRT008

OMIM：176920

MESH：D016715