Palmoplantar keratoderma-esophageal carcinoma syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
KERATOSIS PALMARIS ET PLANTARIS WITH ESOPHAGEAL CANCER TOC Palmoplantar hyperkeratosis-esophageal carcinoma syndrome Bennion-Patterson syndrome Howell-Evans syndrome Tylosis - oesophageal carcinoma Keratosis palmoplantaris-esophageal carcinoma syndrome |
| Number of Symptoms | 23 |
| OrphanetNr: | 2198 |
| OMIM Id: |
148500
|
| ICD-10: |
|
| UMLs: |
|
| MeSH: |
|
| MedDRA: |
|
| Snomed: |
|
Prevalence, inheritance and age of onset:
| Prevalence: | < 10 families [Orphanet] |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Adolescent Adult [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature
-Rare genetic disease -Rare skin disease Genetic gastro-esophageal disease -Rare genetic disease Rare gastro-esophageal disease -Rare gastroenterologic disease |
Symptom Information:
|
|
(HPO:0000153) | Abnormality of the mouth | 60 / 7739 | ||||
|
|
(HPO:0002015) | Dysphagia | Frequent [Orphanet] | 301 / 7739 | |||
|
|
(HPO:0007447) | Diffuse palmoplantar hyperkeratosis | 8 / 7739 | ||||
|
|
(HPO:0100760) | Clubbing of toes | Occasional [Orphanet] | 24 / 7739 | |||
|
|
(HPO:0001541) | Ascites | Frequent [Orphanet] | 94 / 7739 | |||
|
|
(HPO:0002240) | Hepatomegaly | Frequent [Orphanet] | 467 / 7739 | |||
|
|
(HPO:0002250) | Abnormality of the large intestine | Very frequent [Orphanet] | 32 / 7739 | |||
|
|
(HPO:0002239) | Gastrointestinal hemorrhage | Very frequent [Orphanet] | 97 / 7739 | |||
|
|
(HPO:0002017) | Nausea and vomiting | Very frequent [Orphanet] | 134 / 7739 | |||
|
|
(HPO:0100751) | Esophageal neoplasm | Very frequent [Orphanet] | 8 / 7739 | |||
|
|
(HPO:0002577) | Abnormality of the stomach | Frequent [Orphanet] | 84 / 7739 | |||
|
|
(HPO:0011459) | Esophageal carcinoma | 2 / 7739 | ||||
|
|
(HPO:0004325) | Decreased body weight | Frequent [Orphanet] | 492 / 7739 | |||
|
|
(HPO:0001036) | Parakeratosis | 12 / 7739 | ||||
|
|
(HPO:0000962) | Hyperkeratosis | Very frequent [Orphanet] | 216 / 7739 | |||
|
|
(HPO:0001600) | Abnormality of the larynx | Occasional [Orphanet] | 15 / 7739 | |||
|
|
(HPO:0002664) | Neoplasm | Very frequent [Orphanet] | 111 / 7739 | |||
|
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
|
|
(OMIM) | Buccal mucosa preleukoplakia (childhood) | 1 / 7739 | ||||
|
|
(OMIM) | Buccal mucosa shows markedly indented nuclei in basal cell layer, electron-dense intranuclear particles, abnormally shaped enlarged keratohyalin granules, and cytoplasmic vacuoles | 1 / 7739 | ||||
|
|
(OMIM) | Buccal mucosa shows acanthosis, parakeratosis, spongiosis without atypia | 1 / 7739 | ||||
|
|
(HPO:0045026) | Abnormality of the mediastinum | Frequent [Orphanet] | 6 / 7739 | |||
|
|
(OMIM) | Buccal mucosa leukoplakia | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Description: (OMIM) |
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 ... |
| Clinical Description OMIM |
Palmoplantar keratoderma (tylosis; see 600962) was associated with esophageal cancer in 2 kindreds (which perhaps are related) studied in Liverpool by Howel-Evans et al. (1958); the association was first reported by Clarke and McConnell (1954). The disorder is ... |
| Molecular genetics OMIM |
Using targeted capture array and next-generation sequencing in an affected individual from the UK (Liverpool) family with tylosis and esophageal cancer originally reported by Clarke and McConnell (1954), Blaydon et al. (2012) identified a heterozygous missense mutation in ... |