palmoplantar keratoderma-esophageal carcinoma syndrome

Term ID

DOID:0111506

Synonyms

• Bennion-Patterson syndrome
• Howell-Evans syndrome
• keratosis palmaris et plantaris with esophageal cancer
• keratosis palmoplantaris-esophageal carcinoma syndrome
• palmoplantar hyperkeratosis-esophageal carcinoma syndrome
• palmoplantar keratoderma with esophageal cancer
• TOC
• tylosis with esophageal cancer
• tylosis-oesophageal carcinoma syndrome

Definition

A syndrome characterized by palmoplantar keratoderma and esophageal cancer that has_material_basis_in heterozygous mutation in the RHBDF2 gene on chromosome 17q25.1. (2)

References

• GARD:3102
• MESH:C536164
• OMIM:148500
• ORDO:2198
• UMLS_CUI:C1835664

Ontology

Human Disease   ( DOID:0111506 )