Details of Disease

General Information of Disease (ID: DISS4NW9)

Disease Name Palmoplantar keratoderma-esophageal carcinoma syndrome
Synonyms
tylosis with esophageal cancer; tylosis - oesophageal carcinoma; Toc; keratosis palmaris et plantaris with esophageal cancer; howel-Evans syndrome; keratosis palmoplantaris with esophageal cancer; keratosis palmaris Et plantaris with esophageal cancer; palmoplantar keratoderma with esophageal cancer; Bennion-Patterson syndrome; Howell-Evans syndrome; palmoplantar keratoderma-esophageal carcinoma syndrome; palmoplantar hyperkeratosis-esophageal carcinoma syndrome; tylosis-oesophageal carcinoma syndrome; keratosis palmoplantaris-esophageal carcinoma syndrome
Definition
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.|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)
Disease Hierarchy
DIS6SVEE: Syndromic disease
DISGLKBI: Focal palmoplantar keratoderma
DISS4NW9: Palmoplantar keratoderma-esophageal carcinoma syndrome
Disease Identifiers
MONDO ID
MONDO_0007856
MESH ID
C536164
UMLS CUI
C1835664
OMIM ID
148500
MedGen ID
324338
Orphanet ID
2198

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
RHBDF2 TTH1ZOP Strong Biomarker [1]
RHBDF2 TTH1ZOP Definitive Autosomal dominant [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
RHBDF2 OT2FHXQA Definitive Autosomal dominant [2]
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References

1 99mTc-HYNIC-TOC in the Evaluation of Recurrent Tumor-Induced Osteomalacia.Clin Nucl Med. 2019 Mar;44(3):209-213. doi: 10.1097/RLU.0000000000002458.
2 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.