MCID: TYL002
MIFTS: 28

Tylosis with Esophageal Cancer

Categories: Genetic diseases, Rare diseases, Gastrointestinal diseases, Skin diseases, Cancer diseases

Aliases & Classifications for Tylosis with Esophageal Cancer

MalaCards integrated aliases for Tylosis with Esophageal Cancer:

Name: Tylosis with Esophageal Cancer 57 53 75 13 73
Keratosis Palmaris Et Plantaris with Esophageal Cancer 57 53 75
Howel-Evans Syndrome 53 29 6
Toc 57 53 75
Palmoplantar Hyperkeratosis-Esophageal Carcinoma Syndrome 53 59
Keratosis Palmoplantaris-Esophageal Carcinoma Syndrome 53 59
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome 53 59
Tylosis-Oesophageal Carcinoma Syndrome 53 59
Bennion-Patterson Syndrome 53 59
Howell-Evans Syndrome 53 59
Palmoplantar Keratoderma with Esophageal Cancer 57
Keratosis Palmoplantaris with Esophageal Cancer 53
Tylosis - Oesophageal Carcinoma 53
Tylosis, with Esophageal Cancer 40
Howel-Evans' Syndrome 73

Characteristics:

Orphanet epidemiological data:

59
palmoplantar keratoderma-esophageal carcinoma syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult; Age of death: any age;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset of palmoplantar hyperkeratosis 7-8 years of age


HPO:

32
tylosis with esophageal cancer:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Tylosis with Esophageal Cancer

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)

MalaCards based summary : Tylosis with Esophageal Cancer, also known as keratosis palmaris et plantaris with esophageal cancer, 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 skin, and related phenotypes are palmoplantar keratoderma and nausea and vomiting

UniProtKB/Swiss-Prot : 75 Tylosis with esophageal cancer: An autosomal dominant syndrome characterized by diffuse palmoplantar keratoderma, oral leukokeratosis, and a high lifetime risk of esophageal cancer.

NIH Rare Diseases : 53 Tylosis with esophageal cancer (TOC) is 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.

Wikipedia : 76 Howel–Evans syndrome is an extremely rare condition involving thickening of the skin in the palms of the... more...

Related Diseases for Tylosis with Esophageal Cancer

Diseases related to Tylosis with Esophageal Cancer via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 papillon-lefevre syndrome 11.3
2 evans' syndrome 10.2
3 thyroiditis 10.1
4 ectodermal dysplasia 10.1
5 osteomalacia 10.0
6 esophageal cancer 10.0
7 esophagitis 10.0
8 thyroid carcinoma, familial medullary 10.0
9 ovarian cancer 10.0
10 neuroendocrine tumor 10.0

Graphical network of the top 20 diseases related to Tylosis with Esophageal Cancer:



Diseases related to Tylosis with Esophageal Cancer

Symptoms & Phenotypes for Tylosis with Esophageal Cancer

Symptoms via clinical synopsis from OMIM:

57
Neoplasia:
esophageal carcinoma

Skin Nails Hair Skin:
hyperkeratosis, diffuse palmoplantar (tylosis)

Skin Nails Hair Skin Electron Microscopy:
buccal mucosa shows markedly indented nuclei in basal cell layer, electron-dense intranuclear particles, abnormally shaped enlarged keratohyalin granules, and cytoplasmic vacuoles

Head And Neck Mouth:
buccal mucosa preleukoplakia (childhood)
buccal mucosa leukoplakia

Skin Nails Hair Skin Histology:
buccal mucosa shows acanthosis, parakeratosis, spongiosis without atypia


Clinical features from OMIM:

148500

Human phenotypes related to Tylosis with Esophageal Cancer:

59 32 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 palmoplantar keratoderma 59 32 hallmark (90%) Very frequent (99-80%) HP:0000982
2 nausea and vomiting 59 32 hallmark (90%) Very frequent (99-80%) HP:0002017
3 gastrointestinal hemorrhage 59 32 hallmark (90%) Very frequent (99-80%) HP:0002239
4 esophageal neoplasm 59 32 hallmark (90%) Very frequent (99-80%) HP:0100751
5 ascites 59 32 frequent (33%) Frequent (79-30%) HP:0001541
6 weight loss 59 32 frequent (33%) Frequent (79-30%) HP:0001824
7 dysphagia 59 32 frequent (33%) Frequent (79-30%) HP:0002015
8 gastroesophageal reflux 59 32 frequent (33%) Frequent (79-30%) HP:0002020
9 poor suck 59 32 frequent (33%) Frequent (79-30%) HP:0002033
10 hepatomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002240
11 poor appetite 59 32 frequent (33%) Frequent (79-30%) HP:0004396
12 abnormality of the mediastinum 59 32 frequent (33%) Frequent (79-30%) HP:0045026
13 clubbing of toes 59 32 occasional (7.5%) Occasional (29-5%) HP:0100760
14 abnormality of the large intestine 59 Very frequent (99-80%)
15 abnormality of esophagus physiology 59 Frequent (79-30%)
16 abnormality of the mouth 32 HP:0000153
17 parakeratosis 32 HP:0001036
18 neoplasm 32 HP:0002664
19 diffuse palmoplantar hyperkeratosis 32 HP:0007447
20 esophageal carcinoma 32 HP:0011459
21 abnormal large intestine morphology 32 hallmark (90%) HP:0002250

Drugs & Therapeutics for Tylosis with Esophageal Cancer

Search Clinical Trials , NIH Clinical Center for Tylosis with Esophageal Cancer

Genetic Tests for Tylosis with Esophageal Cancer

Genetic tests related to Tylosis with Esophageal Cancer:

# Genetic test Affiliating Genes
1 Howel-Evans Syndrome 29 RHBDF2

Anatomical Context for Tylosis with Esophageal Cancer

MalaCards organs/tissues related to Tylosis with Esophageal Cancer:

41
Skin

Publications for Tylosis with Esophageal Cancer

Articles related to Tylosis with Esophageal Cancer:

# Title Authors Year
1
Analysis of a Finnish family confirms RHBDF2 mutations as the underlying factor in tylosis with esophageal cancer. ( 22638770 )
2012

Variations for Tylosis with Esophageal Cancer

UniProtKB/Swiss-Prot genetic disease variations for Tylosis with Esophageal Cancer:

75
# Symbol AA change Variation ID SNP ID
1 RHBDF2 p.Ile186Thr VAR_067827 rs387907129
2 RHBDF2 p.Pro189Leu VAR_067828 rs387907130

ClinVar genetic disease variations for Tylosis with Esophageal Cancer:

6
(show top 50) (show all 160)
# Gene Variation Type Significance SNP ID Assembly Location
1 RHBDF2 NM_024599.5(RHBDF2): c.557T> C (p.Ile186Thr) single nucleotide variant Pathogenic rs387907129 GRCh37 Chromosome 17, 74475090: 74475090
2 RHBDF2 NM_024599.5(RHBDF2): c.557T> C (p.Ile186Thr) single nucleotide variant Pathogenic rs387907129 GRCh38 Chromosome 17, 76479008: 76479008
3 RHBDF2 NM_024599.5(RHBDF2): c.566C> T (p.Pro189Leu) single nucleotide variant Pathogenic rs387907130 GRCh37 Chromosome 17, 74475081: 74475081
4 RHBDF2 NM_024599.5(RHBDF2): c.566C> T (p.Pro189Leu) single nucleotide variant Pathogenic rs387907130 GRCh38 Chromosome 17, 76478999: 76478999
5 RHBDF2 NM_024599.5(RHBDF2): c.*642G> A single nucleotide variant Uncertain significance rs886053463 GRCh37 Chromosome 17, 74467073: 74467073
6 RHBDF2 NM_024599.5(RHBDF2): c.*642G> A single nucleotide variant Uncertain significance rs886053463 GRCh38 Chromosome 17, 76470991: 76470991
7 RHBDF2 NM_024599.5(RHBDF2): c.*366C> G single nucleotide variant Uncertain significance rs886053465 GRCh37 Chromosome 17, 74467349: 74467349
8 RHBDF2 NM_024599.5(RHBDF2): c.*366C> G single nucleotide variant Uncertain significance rs886053465 GRCh38 Chromosome 17, 76471267: 76471267
9 RHBDF2 NM_024599.5(RHBDF2): c.*182G> A single nucleotide variant Uncertain significance rs886053468 GRCh37 Chromosome 17, 74467533: 74467533
10 RHBDF2 NM_024599.5(RHBDF2): c.*182G> A single nucleotide variant Uncertain significance rs886053468 GRCh38 Chromosome 17, 76471451: 76471451
11 RHBDF2 NM_024599.5(RHBDF2): c.*116G> A single nucleotide variant Likely benign rs553431491 GRCh38 Chromosome 17, 76471517: 76471517
12 RHBDF2 NM_024599.5(RHBDF2): c.*116G> A single nucleotide variant Likely benign rs553431491 GRCh37 Chromosome 17, 74467599: 74467599
13 RHBDF2 NM_024599.5(RHBDF2): c.1899G> A (p.Val633=) single nucleotide variant Likely benign rs138683747 GRCh38 Chromosome 17, 76473103: 76473103
14 RHBDF2 NM_024599.5(RHBDF2): c.1899G> A (p.Val633=) single nucleotide variant Likely benign rs138683747 GRCh37 Chromosome 17, 74469185: 74469185
15 RHBDF2 NM_024599.5(RHBDF2): c.1725+7G> A single nucleotide variant Likely benign rs201989863 GRCh38 Chromosome 17, 76473832: 76473832
16 RHBDF2 NM_024599.5(RHBDF2): c.1725+7G> A single nucleotide variant Likely benign rs201989863 GRCh37 Chromosome 17, 74469914: 74469914
17 RHBDF2 NM_024599.5(RHBDF2): c.1686C> T (p.Ser562=) single nucleotide variant Likely benign rs145102618 GRCh38 Chromosome 17, 76473878: 76473878
18 RHBDF2 NM_024599.5(RHBDF2): c.1686C> T (p.Ser562=) single nucleotide variant Likely benign rs145102618 GRCh37 Chromosome 17, 74469960: 74469960
19 RHBDF2 NM_024599.5(RHBDF2): c.1573A> G (p.Lys525Glu) single nucleotide variant Likely benign rs150723002 GRCh38 Chromosome 17, 76474121: 76474121
20 RHBDF2 NM_024599.5(RHBDF2): c.1573A> G (p.Lys525Glu) single nucleotide variant Likely benign rs150723002 GRCh37 Chromosome 17, 74470203: 74470203
21 RHBDF2 NM_024599.5(RHBDF2): c.1389+12G> A single nucleotide variant Uncertain significance rs375078739 GRCh38 Chromosome 17, 76474718: 76474718
22 RHBDF2 NM_024599.5(RHBDF2): c.1389+12G> A single nucleotide variant Uncertain significance rs375078739 GRCh37 Chromosome 17, 74470800: 74470800
23 RHBDF2 NM_024599.5(RHBDF2): c.1116C> T (p.Gly372=) single nucleotide variant Benign rs61742551 GRCh37 Chromosome 17, 74472998: 74472998
24 RHBDF2 NM_024599.5(RHBDF2): c.1116C> T (p.Gly372=) single nucleotide variant Benign rs61742551 GRCh38 Chromosome 17, 76476916: 76476916
25 RHBDF2 NM_024599.5(RHBDF2): c.1091G> A (p.Arg364Gln) single nucleotide variant Likely benign rs146134173 GRCh37 Chromosome 17, 74473023: 74473023
26 RHBDF2 NM_024599.5(RHBDF2): c.1091G> A (p.Arg364Gln) single nucleotide variant Likely benign rs146134173 GRCh38 Chromosome 17, 76476941: 76476941
27 RHBDF2 NM_024599.5(RHBDF2): c.700C> T (p.Arg234Cys) single nucleotide variant Likely benign rs138968491 GRCh37 Chromosome 17, 74474947: 74474947
28 RHBDF2 NM_024599.5(RHBDF2): c.700C> T (p.Arg234Cys) single nucleotide variant Likely benign rs138968491 GRCh38 Chromosome 17, 76478865: 76478865
29 RHBDF2 NM_024599.5(RHBDF2): c.633G> A (p.Pro211=) single nucleotide variant Likely benign rs3744044 GRCh37 Chromosome 17, 74475014: 74475014
30 RHBDF2 NM_024599.5(RHBDF2): c.633G> A (p.Pro211=) single nucleotide variant Likely benign rs3744044 GRCh38 Chromosome 17, 76478932: 76478932
31 RHBDF2 NM_024599.5(RHBDF2): c.446T> C (p.Met149Thr) single nucleotide variant Uncertain significance rs367658130 GRCh37 Chromosome 17, 74475273: 74475273
32 RHBDF2 NM_024599.5(RHBDF2): c.446T> C (p.Met149Thr) single nucleotide variant Uncertain significance rs367658130 GRCh38 Chromosome 17, 76479191: 76479191
33 RHBDF2 NM_024599.5(RHBDF2): c.414G> T (p.Gln138His) single nucleotide variant Uncertain significance rs763124357 GRCh37 Chromosome 17, 74475305: 74475305
34 RHBDF2 NM_024599.5(RHBDF2): c.414G> T (p.Gln138His) single nucleotide variant Uncertain significance rs763124357 GRCh38 Chromosome 17, 76479223: 76479223
35 RHBDF2 NM_024599.5(RHBDF2): c.401G> A (p.Gly134Glu) single nucleotide variant Likely benign rs142642633 GRCh38 Chromosome 17, 76479236: 76479236
36 RHBDF2 NM_024599.5(RHBDF2): c.401G> A (p.Gly134Glu) single nucleotide variant Likely benign rs142642633 GRCh37 Chromosome 17, 74475318: 74475318
37 RHBDF2 NM_024599.5(RHBDF2): c.31G> A (p.Val11Met) single nucleotide variant Likely benign rs142019309 GRCh38 Chromosome 17, 76481494: 76481494
38 RHBDF2 NM_024599.5(RHBDF2): c.31G> A (p.Val11Met) single nucleotide variant Likely benign rs142019309 GRCh37 Chromosome 17, 74477576: 74477576
39 RHBDF2 NM_024599.5(RHBDF2): c.*619A> G single nucleotide variant Benign rs2289802 GRCh37 Chromosome 17, 74467096: 74467096
40 RHBDF2 NM_024599.5(RHBDF2): c.*619A> G single nucleotide variant Benign rs2289802 GRCh38 Chromosome 17, 76471014: 76471014
41 RHBDF2 NM_024599.5(RHBDF2): c.*449C> T single nucleotide variant Uncertain significance rs886053464 GRCh37 Chromosome 17, 74467266: 74467266
42 RHBDF2 NM_024599.5(RHBDF2): c.*449C> T single nucleotide variant Uncertain significance rs886053464 GRCh38 Chromosome 17, 76471184: 76471184
43 RHBDF2 NM_024599.5(RHBDF2): c.*198G> A single nucleotide variant Likely benign rs59252239 GRCh37 Chromosome 17, 74467517: 74467517
44 RHBDF2 NM_024599.5(RHBDF2): c.*198G> A single nucleotide variant Likely benign rs59252239 GRCh38 Chromosome 17, 76471435: 76471435
45 RHBDF2 NM_024599.5(RHBDF2): c.*160G> A single nucleotide variant Uncertain significance rs886053469 GRCh37 Chromosome 17, 74467555: 74467555
46 RHBDF2 NM_024599.5(RHBDF2): c.*160G> A single nucleotide variant Uncertain significance rs886053469 GRCh38 Chromosome 17, 76471473: 76471473
47 RHBDF2 NM_024599.5(RHBDF2): c.*51G> C single nucleotide variant Benign rs76764510 GRCh38 Chromosome 17, 76471582: 76471582
48 RHBDF2 NM_024599.5(RHBDF2): c.*51G> C single nucleotide variant Benign rs76764510 GRCh37 Chromosome 17, 74467664: 74467664
49 RHBDF2 NM_024599.5(RHBDF2): c.1896+11G> T single nucleotide variant Uncertain significance rs374902969 GRCh38 Chromosome 17, 76473241: 76473241
50 RHBDF2 NM_024599.5(RHBDF2): c.1896+11G> T single nucleotide variant Uncertain significance rs374902969 GRCh37 Chromosome 17, 74469323: 74469323

Expression for Tylosis with Esophageal Cancer

Search GEO for disease gene expression data for Tylosis with Esophageal Cancer.

Pathways for Tylosis with Esophageal Cancer

GO Terms for Tylosis with Esophageal Cancer

Sources for Tylosis with Esophageal Cancer

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17 ExPASy
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71 TGDB
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74 UMLS via Orphanet
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