Tylosis with esophageal cancer

Preferred Label : Tylosis with esophageal cancer;

Symbol : TOC;

CISMeF acronym : TOC;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Palmoplantar keratoderma with esophageal cancer; Keratosis palmaris et plantaris with esophageal cancer;

Description : Palmoplantar keratoderma (PPK) is a complex group of hereditary syndromes that have been classified into diffuse, punctate, and focal forms according to the pattern of hyperkeratosis on the palms and soles (Lucker et al., 1994). For a discussion of phenotypic and genetic heterogeneity of palmoplantar keratoderma, see epidermolytic PPK (144200).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the romboid 5, Drosophila, homolog of, 2 gene (RHBDf2, 614404.0001 );

Neoplasia : Esophageal carcinoma;

Prefixed ID : #148500;

Details

Origin ID

148500;

UMLS CUI

C1835664;

Automatic exact mappings (from CISMeF team)
- RHBDF2 wt Allele [NCIt concept]
- obsessive-compulsive disorder [MeSH Descriptor]
- palmoplantar keratoderma-esophageal carcinoma syndrome [DO Concept]
- symbol withdrawn TOC [HGNC gene]
- tomography, optical coherence [MeSH Descriptor]
Currated CISMeF NLP mapping
- Keratosis palmoplantaris with esophageal cancer [MeSH concept]
- Palmoplantar keratoderma-esophageal carcinoma syndrome [ORDO Disease]
- keratosis palmoplantaris with esophageal cancer [MeSH Supplementary Concept]
- tylosis with esophageal cancer [Disease (Nov.)]
DO Cross reference
- palmoplantar keratoderma-esophageal carcinoma syndrome [DO Concept]
Genes related to phenotype
- Rhomboid 5 homolog 2 [OMIM gene]
HPO term(s)
- Abnormality of the mouth [HPO term]
- Autosomal dominant inheritance [HPO term]
- Diffuse palmoplantar hyperkeratosis [HPO term]
- Electron microscopic abnormality of the skin [HPO term]
- Esophageal carcinoma [HPO term]
- Neoplasm [HPO term]
- Parakeratosis [HPO term]
ORDO concept(s)
- Palmoplantar keratoderma-esophageal carcinoma syndrome [ORDO Disease]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- Keratosis palmoplantaris with esophageal cancer [MeSH concept]
- Palmoplantar keratoderma-esophageal carcinoma syndrome [ORDO Disease]
- keratosis palmoplantaris with esophageal cancer [MeSH Supplementary Concept]
- palmoplantar keratoderma-esophageal carcinoma syndrome [DO Concept]
- tylosis with esophageal cancer [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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