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palmoplantar keratoderma-esophageal carcinoma syndrome

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Tylosis with esophageal cancer (TOC) is 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.
Uniprot Description An autosomal dominant syndrome characterized by diffuse palmoplantar keratoderma, oral leukokeratosis, and a high lifetime risk of esophageal cancer.
Mondo Term and Equivalent IDs
MONDO:0007856:  palmoplantar keratoderma-esophageal carcinoma syndrome
DOID:0111506: 
GARD:0003102: 
MESH:C536164: 
Orphanet:2198: 
SCTID:111030006: