palmoplantar keratoderma-esophageal carcinoma syndrome
Go to external page http://purl.obolibrary.org/obo/MONDO_0007856
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. [ https://orcid.org/0000-0001-5208-3432 GARD:0003102 ]
Synonyms: keratosis palmoplantaris-esophageal carcinoma syndrome Bennion-Patterson syndrome palmoplantar hyperkeratosis-esophageal carcinoma syndrome palmoplantar keratoderma-esophageal carcinoma syndrome Howell-Evans syndrome tylosis-oesophageal carcinoma syndrome
Term information
- GARD:3102 (Orphanet:2198)
- MESH:C536164 (MONDO:equivalentTo)
- DOID:0111506 (MONDO:equivalentTo)
- SCTID:111030006 (MONDO:equivalentTo)
- OMIM:148500 (Orphanet:2198/e)
- Orphanet:2198 (OMIM:148500)
gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen
This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'digestive system disorder' (MONDO:0004335) ontology branch (https://orcid.org/0000-0001-9310-0163)
http://purl.obolibrary.org/obo/DOID_0111506
https://omim.org/entry/148500
http://identifiers.org/mesh/C536164
http://www.orpha.net/ORDO/Orphanet_2198
http://identifiers.org/snomedct/111030006
keratosis palmoplantaris with esophageal cancer
howel-Evans syndrome
keratosis palmaris et plantaris with esophageal cancer
tylosis with esophageal cancer
Toc
palmoplantar keratoderma with esophageal cancer
keratosis palmaris Et plantaris with esophageal cancer
tylosis - oesophageal carcinoma
https://rarediseases.info.nih.gov/diseases/3102/tylosis-with-esophageal-cancer
https://search.clinicalgenome.org/kb/conditions/MONDO:0007856