palmoplantar keratoderma-esophageal carcinoma syndrome
An 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.
MONDO:0002254
syndromic disease
is_a
MONDO:0017672
focal palmoplantar keratoderma
is_a
Bennion-Patterson syndrome
exact
Howell-Evans syndrome
exact
Toc
related
howel-Evans syndrome
related
keratosis palmaris et plantaris with esophageal cancer
related
keratosis palmoplantaris with esophageal cancer
related
keratosis palmoplantaris-esophageal carcinoma syndrome
exact
palmoplantar hyperkeratosis-esophageal carcinoma syndrome
exact
palmoplantar keratoderma-esophageal carcinoma syndrome
exact
tylosis - oesophageal carcinoma
related
tylosis with esophageal cancer
related
tylosis-oesophageal carcinoma syndrome
exact