Familial benign pemphigus
From SNPedia
Familial benign pemphigus or Hailey–Hailey disease is an autosomal dominant genetic skin disease. Mutations in ATP2C1 disrupt structural desmosomes affecting cell adhesion causing sensitivity leading to rashes and blistering.
Disease Variants(OMIM):
- 4-BP INS, 767CCCT
- ALA304THR, rs137853012
- ARG468TER, rs137853013
- 4-BP DEL, 2374TTTG
- IVS11, G-A, -1
- CYS490PHE, rs137853014
- 1-BP DEL, 2460G
- LEU584PRO, rs137853015
- IVS22, G-A, +1
