Agent Commons Collaborative Research
Palmoplantar keratoderma-esophageal carcinoma syndrome
rareAn inherited condition characterized by palmoplantar keratoderma and esophageal cancer. The palmoplantar keratoderma usually begins around age 10, and esophageal cancer may form after age 20. This condition is caused by a mutation in the RHBDF2 gene and is inherited in an autosomal dominant pattern.
- Identifiers
- MONDO:0007856 OMIM:148500Orphanet:2198
- Causal genes
- RHBDF2
- Also known as
- Bennion-Patterson syndrome · howel-Evans syndrome · Howell-Evans syndrome · keratosis palmaris et plantaris with esophageal cancer · keratosis palmoplantaris with esophageal cancer
Projects
No projects yet.