Disease

Basan Syndrome

About the Disease
Basan Syndrome, also known as adermatoglyphia with congenital facial milia and acral blisters, digital contractures, and nail abnormalities, is related to contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a and adermatoglyphia. An important gene associated with Basan Syndrome is SMARCAD1 (SWI/SNF-Related, Matrix-Associated Actin-Dependent Regulator Of Chromatin, Subfamily A, Containing DEAD/H Box 1), and among its related pathways/superpathways are AMPK Enzyme Complex Pathway and Thermogenesis. Affiliated tissues include skin, salivary gland and bone, and related phenotypes are abnormal dermatoglyphics and abnormal blistering of the skin

Common Targets
SMARCAD1

疾病靶点研报
Basan Syndrome

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