The gene responsible is RHBDF2 (Rhomboid family member 2), which is located on the long arm of chromosome 17 (at 17q25). The mutation responsible for the disease was detected in Finnish, German, UK and US families. The RHBDF2 protein is a member of the intramembranous serine proteases. It is thought to play an important role in the epithelial response to injury in the esophagus and skin. RHBDF2 is involved in the regulation of the secretion of several ligands of the epidermal growth factor receptor.
Howel–Evans syndrome
Michels Caskey syndrome
Jackson–Weiss syndrome
Löffler's syndrome
Gómez–López-Hernández syndrome
Fitz-Hugh–Curtis syndrome
Rowell's syndrome
Wissler's syndrome