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TOC
MCID: TYL002
MIFTS: 43
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Tylosis with Esophageal Cancer (TOC)
Categories:
Cancer diseases, Gastrointestinal diseases, Genetic diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Tylosis with Esophageal Cancer:
Characteristics:Orphanet epidemiological data:58
palmoplantar keratoderma-esophageal carcinoma syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult; Age of death: any age; OMIM®:57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant
Miscellaneous:
onset of palmoplantar hyperkeratosis 7-8 years of age HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases Anatomical: Gastrointestinal diseases Skin diseases
Orphanet: 58
Rare gastroenterological diseases
Rare skin diseases |
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GARD :
20
Tylosis with esophageal cancer (TOC) is an inherited condition that increases the risk for esophageal cancer. The symptoms of TOC include thickening of the skin on the palms and soles of the feet (palmoplantar keratoderma) and white lesions inside the mouth. People with TOC are at very high risk to develop esophageal cancer. The palmoplantar keratoderma usually occurs in childhood, and esophageal cancer usually occurs in adulthood. TOC is caused by a variant in the RHBDF2 gene and is inherited in an autosomal dominant pattern. Diagnosis is based on the symptoms, clinical exam, and family history. The diagnosis may be confirmed by the results of genetic testing. Treatment is focused on managing the risk for esophageal cancer through screening and avoiding smoking and alcohol use.
MalaCards based summary : Tylosis with Esophageal Cancer, also known as palmoplantar keratoderma-esophageal carcinoma syndrome, is related to papillon-lefevre syndrome and evans' syndrome. An important gene associated with Tylosis with Esophageal Cancer is RHBDF2 (Rhomboid 5 Homolog 2). Affiliated tissues include breast, and related phenotypes are nausea and vomiting and palmoplantar keratoderma Disease Ontology : 12 A syndrome characterized by palmoplantar keratoderma and esophageal cancer that has material basis in heterozygous mutation in RHBDF2 on chromosome 17q25.1. OMIM® : 57 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). (148500) (Updated 05-Apr-2021) UniProtKB/Swiss-Prot : 72 Tylosis with esophageal cancer: An autosomal dominant syndrome characterized by diffuse palmoplantar keratoderma, oral leukokeratosis, and a high lifetime risk of esophageal cancer. Wikipedia : 73 Howel-Evans syndrome is an extremely rare condition involving thickening of the skin in the palms of the... more... |
Human phenotypes related to Tylosis with Esophageal Cancer:58 31 (show all 20)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Apr-2021)Clinical features from OMIM®:148500 (Updated 05-Apr-2021) |
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Cochrane evidence based reviews: keratosis palmoplantaris with esophageal cancer |
MalaCards organs/tissues related to Tylosis with Esophageal Cancer:40
Breast
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Articles related to Tylosis with Esophageal Cancer:(show all 30)
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Genes related to Tylosis with Esophageal Cancer (1 elite genes):(show all 20) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Tylosis with Esophageal Cancer:6 (show top 50) (show all 122)
UniProtKB/Swiss-Prot genetic disease variations for Tylosis with Esophageal Cancer:72
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Search
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Biological processes related to Tylosis with Esophageal Cancer according to GeneCards Suite gene sharing:
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