TOC
MCID: TYL002
MIFTS: 46

Tylosis with Esophageal Cancer (TOC)

Categories: Cancer diseases, Gastrointestinal diseases, Genetic diseases, Oral diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Tylosis with Esophageal Cancer

MalaCards integrated aliases for Tylosis with Esophageal Cancer:

Name: Tylosis with Esophageal Cancer 57 11 19 73 12 71 75
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome 11 19 58 28 5 14
Keratosis Palmaris Et Plantaris with Esophageal Cancer 57 11 19 73
Toc 57 11 19 73
Palmoplantar Hyperkeratosis-Esophageal Carcinoma Syndrome 11 19 58
Keratosis Palmoplantaris-Esophageal Carcinoma Syndrome 11 19 58
Tylosis-Oesophageal Carcinoma Syndrome 11 19 58
Bennion-Patterson Syndrome 11 19 58
Howell-Evans Syndrome 11 19 58
Palmoplantar Keratoderma with Esophageal Cancer 57 11
Keratosis Palmoplantaris with Esophageal Cancer 19 43
Howel-Evans Syndrome 19 75
Tylosis - Oesophageal Carcinoma 19
Howel-Evans' Syndrome 71

Characteristics:


Inheritance:

Tylosis with Esophageal Cancer: Autosomal dominant 57
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome: Autosomal dominant 58

Prevelance:

Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome: <1/1000000 (Worldwide) 58

Age Of Onset:

Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome: Adolescent,Adult 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset of palmoplantar hyperkeratosis 7-8 years of age


Classifications:

Orphanet: 58  
Rare gastroenterological diseases
Rare skin diseases


Summaries for Tylosis with Esophageal Cancer

GARD: 19 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.

MalaCards based summary: Tylosis with Esophageal Cancer, also known as palmoplantar keratoderma-esophageal carcinoma syndrome, is related to palmoplantar keratoderma, nonepidermolytic and neuroendocrine tumor. An important gene associated with Tylosis with Esophageal Cancer is RHBDF2 (Rhomboid 5 Homolog 2). Affiliated tissues include skin, breast and lung, and related phenotypes are nausea and vomiting and palmoplantar keratoderma

Orphanet: 58 A rare genetic disease characterized by thickening of the skin on palms and soles restricted to areas of weight bearing and/or friction (focal, non-epidermolytic palmoplantar keratoderma) and oral and esophageal leukokeratosis, associated with a very high lifetime risk of developing squamous cell carcinoma of the esophagus. The skin lesions appear in childhood and can be complicated by fissuring and infection.

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 08-Dec-2022)

Disease Ontology: 11 A syndrome characterized by palmoplantar keratoderma and esophageal cancer that has material basis in heterozygous mutation in RHBDF2 on chromosome 17q25.1.

UniProtKB/Swiss-Prot: 73 An autosomal dominant syndrome characterized by diffuse palmoplantar keratoderma, oral leukokeratosis, and a high lifetime risk of esophageal cancer.

Wikipedia: 75 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:

(show top 50) (show all 127)
# Related Disease Score Top Affiliating Genes
1 palmoplantar keratoderma, nonepidermolytic 30.4 RHBDF2 RHBDF1
2 neuroendocrine tumor 10.6
3 evans' syndrome 10.4
4 thyroid carcinoma 10.4
5 esophageal cancer 10.4
6 palmoplantar keratoderma, epidermolytic 10.4
7 carcinoid tumors, intestinal 10.3
8 pheochromocytoma 10.3
9 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.3
10 paraganglioma 10.3
11 osteomalacia 10.2
12 palmoplantar keratosis 10.2
13 melanoma 10.2
14 oncogenic osteomalacia 10.2
15 thyroid carcinoma, familial medullary 10.2
16 meningioma, familial 10.2
17 leiomyosarcoma 10.2
18 adenoma 10.2
19 bronchus cancer 10.1
20 leukoplakia 10.1
21 ovarian cancer 10.1
22 ovarian cancer 1 10.1
23 carcinoid syndrome 10.1
24 ceroid lipofuscinosis, neuronal, 5 10.1
25 skin disease 10.1
26 esophagus squamous cell carcinoma 10.1
27 factor vii deficiency 10.1
28 liposarcoma 10.1
29 pituitary adenoma 10.1
30 thyroid gland medullary carcinoma 10.1
31 breast cancer 10.0
32 multiple endocrine neoplasia, type i 10.0
33 small cell cancer of the lung 10.0
34 palmoplantar keratoderma, nonepidermolytic, focal 1 10.0
35 hypophosphatemia 10.0
36 castleman disease 10.0
37 neuroendocrine carcinoma 10.0
38 adenocarcinoma 10.0
39 multiple endocrine neoplasia 10.0
40 mesenchymal cell neoplasm 10.0
41 barrett's adenocarcinoma 10.0
42 47 xxx syndrome 10.0
43 renal cell carcinoma, nonpapillary 9.9
44 paragangliomas 1 9.9
45 prostate cancer 9.9
46 pancreatic cancer 9.9
47 graves disease 1 9.9
48 human immunodeficiency virus type 1 9.9
49 tatton-brown-rahman syndrome 9.9
50 graves ophthalmopathy 9.9

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

Human phenotypes related to Tylosis with Esophageal Cancer:

58 30 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nausea and vomiting 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002017
2 palmoplantar keratoderma 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000982
3 gastrointestinal hemorrhage 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002239
4 esophageal neoplasm 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100751
5 abnormal large intestine morphology 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002250
6 dysphagia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002015
7 hepatomegaly 58 30 Frequent (33%) Frequent (79-30%)
HP:0002240
8 gastroesophageal reflux 58 30 Frequent (33%) Frequent (79-30%)
HP:0002020
9 ascites 58 30 Frequent (33%) Frequent (79-30%)
HP:0001541
10 weight loss 58 30 Frequent (33%) Frequent (79-30%)
HP:0001824
11 poor appetite 58 30 Frequent (33%) Frequent (79-30%)
HP:0004396
12 poor suck 58 30 Frequent (33%) Frequent (79-30%)
HP:0002033
13 abnormality of the mediastinum 58 30 Frequent (33%) Frequent (79-30%)
HP:0045026
14 clubbing of toes 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100760
15 neoplasm 30 HP:0002664
16 abnormality of the mouth 30 HP:0000153
17 esophageal carcinoma 30 HP:0011459
18 parakeratosis 30 HP:0001036
19 abnormality of esophagus physiology 58 Frequent (79-30%)
20 diffuse palmoplantar hyperkeratosis 30 HP:0007447

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Tylosis with Esophageal Cancer:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.17 ADAM17 AREG DNAH17 RHBDF1 RHBDF2 RHBDL1

Drugs & Therapeutics for Tylosis with Esophageal Cancer

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

Cochrane evidence based reviews: keratosis palmoplantaris with esophageal cancer

Genetic Tests for Tylosis with Esophageal Cancer

Genetic tests related to Tylosis with Esophageal Cancer:

# Genetic test Affiliating Genes
1 Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome 28 RHBDF2

Anatomical Context for Tylosis with Esophageal Cancer

Organs/tissues related to Tylosis with Esophageal Cancer:

MalaCards : Skin, Breast, Lung

Publications for Tylosis with Esophageal Cancer

Articles related to Tylosis with Esophageal Cancer:

(show all 36)
# Title Authors PMID Year
1
Analysis of a Finnish family confirms RHBDF2 mutations as the underlying factor in tylosis with esophageal cancer. 62 57 5
22638770 2012
2
RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome. 57 5
22265016 2012
3
Carcinoma of the esophagus and tylosis. A lethal genetic combination. 57 5
8508402 1993
4
Six cases of carcinoma of the oesophagus occurring in one family. 57 5
13209063 1954
5
iRHOM2-dependent regulation of ADAM17 in cutaneous disease and epidermal barrier function. 57
24643277 2014
6
Down-regulation of the cytoglobin gene, located on 17q25, in tylosis with oesophageal cancer (TOC): evidence for trans-allele repression. 57
16510494 2006
7
Novel microsatellite markers and single nucleotide polymorphisms refine the tylosis with oesophageal cancer (TOC) minimal region on 17q25 to 42.5 kb: sequencing does not identify the causative gene. 57
15007728 2004
8
Characterization of a 500 kb region on 17q25 and the exclusion of candidate genes as the familial Tylosis Oesophageal Cancer (TOC) locus. 57
12214281 2002
9
Loss of heterozygosity in sporadic oesophageal tumors in the tylosis oesophageal cancer (TOC) gene region of chromosome 17q. 57
9798681 1998
10
Oral tylosis: a re-appraisal. 57
9192554 1997
11
Close mapping of the focal non-epidermolytic palmoplantar keratoderma (PPK) locus associated with oesophageal cancer (TOC). 57
8776604 1996
12
Linkage of an American pedigree with palmoplantar keratoderma and malignancy (palmoplantar ectodermal dysplasia type III) to 17q24. Literature survey and proposed updated classification of the keratodermas. 57
8651714 1996
13
Palmoplantar keratoderma in association with carcinoma of the esophagus maps to chromosome 17q distal to the keratin gene cluster. 57
8666405 1995
14
Tylosis oesophageal cancer mapped. 57
7534553 1994
15
The hereditary palmoplantar keratoses: an updated review and classification. 57
8043399 1994
16
Identification of the genetic locus for keratosis palmaris et plantaris on chromosome 17 near the RARA and keratin type I genes. 57
7504553 1993
17
Hereditary epidermolytic palmoplantar keratoderma associated with breast and ovarian cancer in a large kindred. 57
2960371 1987
18
Genetic tylosis with malignancy: a study of a South Indian pedigree. 57
6446315 1980
19
Oral leukoplakia associated with tylosis and esophageal carcinoma. 57
4213563 1974
20
Carcinoma of the oesophagus with tylosis. 57
5478505 1970
21
Carcinoma of the oesophagus with tylosis (keratosis palmaris et plantaris). 57
4160647 1966
22
Carcinoma of the oesophagus with keratosis palmaris et plantaris (tylosis): a study of two families. 57
13579162 1958
23
iRHOM2: A Regulator of Palmoplantar Biology, Inflammation, and Viral Susceptibility. 62
33080304 2021
24
Whole Exome Sequencing Identified a Novel Mutation of the RHBDF2 Gene in a Chinese Family of Tylosis with Esophageal Cancer. 62
30938830 2019
25
A survey study with assessment of esophageal screening and genetic counseling in patients with Howel-Evans syndrome. 62
30142717 2018
26
RHBDF2-Regulated Growth Factor Signaling in a Rare Human Disease, Tylosis With Esophageal Cancer: What Can We Learn From Murine Models? 62
30022999 2018
27
iRhoms; Its Functions and Essential Roles. 62
26869525 2016
28
Deletions in the cytoplasmic domain of iRhom1 and iRhom2 promote shedding of the TNF receptor by the protease ADAM17. 62
26535007 2015
29
Howel-Evans syndrome: a variant of ectodermal dysplasia. 62
20486456 2010
30
[Hereditary tylosis syndrome and esophagus cancer]. 62
20098858 2009
31
Lung carcinoma with congenital plantar keratoderma as a variant of Clarke-Howel-Evans syndrome. 62
12786874 2003
32
Carcinoma of stomach in a patient with familial tylosis. 62
12546174 2002
33
[Focal palmoplantar and oral mucosa hyperkeratosis syndrome]. 62
11432338 2001
34
A sequence-ready BAC/PAC contig and partial transcript map of approximately 1.5 Mb in human chromosome 17q25 comprising multiple disease genes. 62
10610718 1999
35
An integrated physical and gene map of human distal chromosome 17q24-proximal 17q25 encompassing multiple disease loci. 62
10191081 1999
36
[Clarke-Howel Evans' syndrome]. 62
141196 1977

Variations for Tylosis with Esophageal Cancer

ClinVar genetic disease variations for Tylosis with Esophageal Cancer:

5 (show top 50) (show all 129)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RHBDF2 NM_001005498.4(RHBDF2):c.470T>C (p.Ile157Thr) SNV Pathogenic
31178 rs387907129 GRCh37: 17:74475090-74475090
GRCh38: 17:76479008-76479008
2 RHBDF2 NM_001005498.4(RHBDF2):c.479C>T (p.Pro160Leu) SNV Pathogenic
31179 rs387907130 GRCh37: 17:74475081-74475081
GRCh38: 17:76478999-76478999
3 RHBDF2 NM_001005498.4(RHBDF2):c.1396C>T (p.Arg466Trp) SNV Conflicting Interpretations Of Pathogenicity
325438 rs143503813 GRCh37: 17:74470523-74470523
GRCh38: 17:76474441-76474441
4 RHBDF2 NM_001005498.4(RHBDF2):c.1495G>T (p.Asp499Tyr) SNV Conflicting Interpretations Of Pathogenicity
325436 rs11553545 GRCh37: 17:74470194-74470194
GRCh38: 17:76474112-76474112
5 RHBDF2 NM_001005498.4(RHBDF2):c.361C>T (p.Arg121Cys) SNV Conflicting Interpretations Of Pathogenicity
325459 rs187556554 GRCh37: 17:74475271-74475271
GRCh38: 17:76479189-76479189
6 RHBDF2 NM_001005498.4(RHBDF2):c.1531G>A (p.Gly511Ser) SNV Conflicting Interpretations Of Pathogenicity
890958 rs140196536 GRCh37: 17:74470158-74470158
GRCh38: 17:76474076-76474076
7 RHBDF2 NM_001005498.4(RHBDF2):c.1486A>G (p.Lys496Glu) SNV Conflicting Interpretations Of Pathogenicity
325437 rs150723002 GRCh37: 17:74470203-74470203
GRCh38: 17:76474121-76474121
8 RHBDF2 NM_001005498.4(RHBDF2):c.2365G>A (p.Ala789Thr) SNV Conflicting Interpretations Of Pathogenicity
325421 rs770206566 GRCh37: 17:74467834-74467834
GRCh38: 17:76471752-76471752
9 RHBDF2 NM_001005498.4(RHBDF2):c.853G>A (p.Ala285Thr) SNV Conflicting Interpretations Of Pathogenicity
888759 rs140433374 GRCh37: 17:74473329-74473329
GRCh38: 17:76477247-76477247
10 RHBDF2 NM_001005498.4(RHBDF2):c.822T>C (p.Pro274=) SNV Uncertain Significance
888760 rs2073804305 GRCh37: 17:74473360-74473360
GRCh38: 17:76477278-76477278
11 RHBDF2 NM_001005498.4(RHBDF2):c.98C>T (p.Pro33Leu) SNV Uncertain Significance
888848 rs1010002254 GRCh37: 17:74477509-74477509
GRCh38: 17:76481427-76481427
12 RHBDF2 NM_001005498.4(RHBDF2):c.1960G>T (p.Asp654Tyr) SNV Uncertain Significance
325425 rs886053471 GRCh37: 17:74468872-74468872
GRCh38: 17:76472790-76472790
13 RHBDF2 NM_001005498.4(RHBDF2):c.823del (p.Asp275fs) DEL Uncertain Significance
631789 rs1567876390 GRCh37: 17:74473359-74473359
GRCh38: 17:76477277-76477277
14 RHBDF2 NM_001005498.4(RHBDF2):c.899C>G (p.Pro300Arg) SNV Uncertain Significance
888758 rs1315609118 GRCh37: 17:74473283-74473283
GRCh38: 17:76477201-76477201
15 RHBDF2 NM_001005498.4(RHBDF2):c.560T>C (p.Val187Ala) SNV Uncertain Significance
890466 rs2073856905 GRCh37: 17:74475000-74475000
GRCh38: 17:76478918-76478918
16 RHBDF2 NM_001005498.4(RHBDF2):c.-175A>G SNV Uncertain Significance
890543 rs542504429 GRCh37: 17:74483947-74483947
GRCh38: 17:76487865-76487865
17 RHBDF2 NM_001005498.4(RHBDF2):c.-220+12G>A SNV Uncertain Significance
890544 rs1014348759 GRCh37: 17:74497423-74497423
GRCh38: 17:76501341-76501341
18 RHBDF2 NM_001005498.4(RHBDF2):c.-228C>T SNV Uncertain Significance
890545 rs1488032394 GRCh37: 17:74497443-74497443
GRCh38: 17:76501361-76501361
19 RHBDF2 NM_001005498.4(RHBDF2):c.*405T>C SNV Uncertain Significance
890901 rs976788604 GRCh37: 17:74467310-74467310
GRCh38: 17:76471228-76471228
20 RHBDF2 NM_001005498.4(RHBDF2):c.*342T>C SNV Uncertain Significance
890902 rs2073549599 GRCh37: 17:74467373-74467373
GRCh38: 17:76471291-76471291
21 RHBDF2 NM_001005498.4(RHBDF2):c.*205C>T SNV Uncertain Significance
890903 rs1028206900 GRCh37: 17:74467510-74467510
GRCh38: 17:76471428-76471428
22 RHBDF2 NM_001005498.4(RHBDF2):c.*536G>A SNV Uncertain Significance
325407 rs765820971 GRCh37: 17:74467179-74467179
GRCh38: 17:76471097-76471097
23 RHBDF2 NM_001005498.4(RHBDF2):c.*366C>G SNV Uncertain Significance
325410 rs886053465 GRCh37: 17:74467349-74467349
GRCh38: 17:76471267-76471267
24 RHBDF2 NM_001005498.4(RHBDF2):c.*287C>T SNV Uncertain Significance
325413 rs886053467 GRCh37: 17:74467428-74467428
GRCh38: 17:76471346-76471346
25 RHBDF2 NM_001005498.4(RHBDF2):c.1227+11T>C SNV Uncertain Significance
325442 rs763218059 GRCh37: 17:74471101-74471101
GRCh38: 17:76475019-76475019
26 RHBDF2 NM_001005498.4(RHBDF2):c.*702C>G SNV Uncertain Significance
325399 rs886053462 GRCh37: 17:74467013-74467013
GRCh38: 17:76470931-76470931
27 RHBDF2 NM_001005498.4(RHBDF2):c.*606C>T SNV Uncertain Significance
888633 rs2073539386 GRCh37: 17:74467109-74467109
GRCh38: 17:76471027-76471027
28 RHBDF2 NM_001005498.4(RHBDF2):c.*590C>T SNV Uncertain Significance
888634 rs774762832 GRCh37: 17:74467125-74467125
GRCh38: 17:76471043-76471043
29 RHBDF2 NM_001005498.4(RHBDF2):c.2088C>T (p.Phe696=) SNV Uncertain Significance
888693 rs202160090 GRCh37: 17:74468111-74468111
GRCh38: 17:76472029-76472029
30 RHBDF2 NM_001005498.4(RHBDF2):c.*642G>A SNV Uncertain Significance
325401 rs886053463 GRCh37: 17:74467073-74467073
GRCh38: 17:76470991-76470991
31 RHBDF2 NM_001005498.4(RHBDF2):c.1302+8C>T SNV Uncertain Significance
325441 rs886053473 GRCh37: 17:74470804-74470804
GRCh38: 17:76474722-76474722
32 RHBDF2 NM_001005498.4(RHBDF2):c.2073G>A (p.Pro691=) SNV Uncertain Significance
325424 rs374520556 GRCh37: 17:74468126-74468126
GRCh38: 17:76472044-76472044
33 RHBDF2 NM_001005498.4(RHBDF2):c.1575-8G>A SNV Uncertain Significance
325435 rs886053472 GRCh37: 17:74469992-74469992
GRCh38: 17:76473910-76473910
34 RHBDF2 NM_001005498.4(RHBDF2):c.*182G>A SNV Uncertain Significance
325415 rs886053468 GRCh37: 17:74467533-74467533
GRCh38: 17:76471451-76471451
35 RHBDF2 NM_001005498.4(RHBDF2):c.*310G>A SNV Uncertain Significance
325412 rs886053466 GRCh37: 17:74467405-74467405
GRCh38: 17:76471323-76471323
36 RHBDF2 NM_001005498.4(RHBDF2):c.*449C>T SNV Uncertain Significance
325409 rs886053464 GRCh37: 17:74467266-74467266
GRCh38: 17:76471184-76471184
37 RHBDF2 NM_001005498.4(RHBDF2):c.946C>T (p.Pro316Ser) SNV Uncertain Significance
325446 rs777178007 GRCh37: 17:74473081-74473081
GRCh38: 17:76476999-76476999
38 RHBDF2 NM_001005498.4(RHBDF2):c.2161C>T (p.Leu721Phe) SNV Uncertain Significance
325423 rs774772768 GRCh37: 17:74468038-74468038
GRCh38: 17:76471956-76471956
39 RHBDF2 NM_001005498.4(RHBDF2):c.2451C>T (p.Cys817=) SNV Uncertain Significance
325420 rs886053470 GRCh37: 17:74467748-74467748
GRCh38: 17:76471666-76471666
40 RHBDF2 NM_001005498.4(RHBDF2):c.*160G>A SNV Uncertain Significance
325417 rs886053469 GRCh37: 17:74467555-74467555
GRCh38: 17:76471473-76471473
41 RHBDF2 NM_001005498.4(RHBDF2):c.*726T>G SNV Uncertain Significance
325397 rs886053461 GRCh37: 17:74466989-74466989
GRCh38: 17:76470907-76470907
42 RHBDF2 NM_001005498.4(RHBDF2):c.1302+12G>A SNV Uncertain Significance
325440 rs375078739 GRCh37: 17:74470800-74470800
GRCh38: 17:76474718-76474718
43 RHBDF2 NM_001005498.4(RHBDF2):c.1809+11G>T SNV Uncertain Significance
325428 rs374902969 GRCh37: 17:74469323-74469323
GRCh38: 17:76473241-76473241
44 RHBDF2 NM_001005498.4(RHBDF2):c.*53G>T SNV Uncertain Significance
892134 rs1191353898 GRCh37: 17:74467662-74467662
GRCh38: 17:76471580-76471580
45 RHBDF2 NM_001005498.4(RHBDF2):c.-43G>A SNV Uncertain Significance
888850 rs990814111 GRCh37: 17:74483815-74483815
GRCh38: 17:76487733-76487733
46 RHBDF2 NM_001005498.4(RHBDF2):c.*537G>A SNV Uncertain Significance
890335 rs1318338133 GRCh37: 17:74467178-74467178
GRCh38: 17:76471096-76471096
47 RHBDF2 NM_001005498.4(RHBDF2):c.*475T>G SNV Uncertain Significance
890336 rs2073544332 GRCh37: 17:74467240-74467240
GRCh38: 17:76471158-76471158
48 RHBDF2 NM_001005498.4(RHBDF2):c.666C>T (p.Leu222=) SNV Uncertain Significance
890464 rs922369882 GRCh37: 17:74474894-74474894
GRCh38: 17:76478812-76478812
49 RHBDF2 NM_001005498.4(RHBDF2):c.956G>A (p.Arg319Gln) SNV Uncertain Significance
997552 rs149436907 GRCh37: 17:74473071-74473071
GRCh38: 17:76476989-76476989
50 RHBDF2 NM_001005498.4(RHBDF2):c.2166C>A (p.Asn722Lys) SNV Uncertain Significance
997609 rs150984603 GRCh37: 17:74468033-74468033
GRCh38: 17:76471951-76471951

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

73
# Symbol AA change Variation ID SNP ID
1 RHBDF2 p.Ile186Thr VAR_067827 rs387907129
2 RHBDF2 p.Pro189Leu VAR_067828 rs387907130

Cosmic variations for Tylosis with Esophageal Cancer:

8 (show top 50) (show all 345)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM106059757 TP53 skin,hand,carcinoma,squamous cell carcinoma c.260C>A p.P87Q 17:7676109-7676109 10
2 COSM112354551 TP53 skin,hand,carcinoma,squamous cell carcinoma c.565G>A p.A189T 17:7674966-7674966 10
3 COSM111759858 TP53 skin,hand,carcinoma,squamous cell carcinoma c.856G>A p.E286K 17:7673764-7673764 10
4 COSM145161899 TP53 skin,hand,carcinoma,squamous cell carcinoma c.833A>G p.Q278R 17:7673578-7673578 10
5 COSM112254266 TP53 skin,hand,carcinoma,squamous cell carcinoma c.673-1G>A p.? 17:7674291-7674291 10
6 COSM145019215 TP53 skin,hand,carcinoma,squamous cell carcinoma c.739G>A p.E247K 17:7673764-7673764 10
7 COSM144309924 TP53 skin,hand,carcinoma,squamous cell carcinoma c.701G>A p.R234H 17:7673802-7673802 10
8 COSM144087977 TP53 skin,hand,carcinoma,squamous cell carcinoma c.379G>A p.E127K 17:7673764-7673764 10
9 COSM93190386 TP53 skin,hand,carcinoma,squamous cell carcinoma c.260C>A p.P87Q 17:7676109-7676109 10
10 COSM106059965 TP53 skin,hand,carcinoma,squamous cell carcinoma c.647T>A p.V216E 17:7674884-7674884 10
11 COSM105621918 TP53 skin,hand,carcinoma,squamous cell carcinoma c.782+417G>A p.? 17:7673764-7673764 10
12 COSM143386984 TP53 skin,hand,carcinoma,squamous cell carcinoma c.193C>T p.Q65* 17:7676059-7676059 10
13 COSM122787283 TP53 skin,hand,carcinoma,squamous cell carcinoma c.449G>C p.R150P 17:7673775-7673775 10
14 COSM144213765 TP53 skin,hand,carcinoma,squamous cell carcinoma c.473A>G p.Q158R 17:7673578-7673578 10
15 COSM111765517 TP53 skin,hand,carcinoma,squamous cell carcinoma c.260C>A p.P87Q 17:7676109-7676109 10
16 COSM142560894 TP53 skin,hand,carcinoma,squamous cell carcinoma c.556-1G>A p.? 17:7674291-7674291 10
17 COSM87899076 TP53 skin,hand,carcinoma,squamous cell carcinoma c.673-1G>A p.? 17:7674291-7674291 10
18 COSM145018355 TP53 skin,hand,carcinoma,squamous cell carcinoma c.556-1G>A p.? 17:7674291-7674291 10
19 COSM143465962 TP53 skin,hand,carcinoma,squamous cell carcinoma c.448G>A p.A150T 17:7674966-7674966 10
20 COSM144651848 TP53 skin,hand,carcinoma,squamous cell carcinoma c.556-1G>A p.? 17:7674291-7674291 10
21 COSM105636071 TP53 skin,hand,carcinoma,squamous cell carcinoma c.310C>T p.Q104* 17:7676059-7676059 10
22 COSM144311386 TP53 skin,hand,carcinoma,squamous cell carcinoma c.739G>A p.E247K 17:7673764-7673764 10
23 COSM106053786 TP53 skin,hand,carcinoma,squamous cell carcinoma c.673-1G>A p.? 17:7674291-7674291 10
24 COSM144757328 TP53 skin,hand,carcinoma,squamous cell carcinoma c.448G>A p.A150T 17:7674966-7674966 10
25 COSM143945161 TP53 skin,hand,carcinoma,squamous cell carcinoma c.379G>A p.E127K 17:7673764-7673764 10
26 COSM87899887 TP53 skin,hand,carcinoma,squamous cell carcinoma c.856G>A p.E286K 17:7673764-7673764 10
27 COSM121884502 TP53 skin,hand,carcinoma,squamous cell carcinoma c.251T>A p.V84E 17:7674884-7674884 10
28 COSM144315643 TP53 skin,hand,carcinoma,squamous cell carcinoma c.143C>A p.P48Q 17:7676109-7676109 10
29 COSM142566904 TP53 skin,hand,carcinoma,squamous cell carcinoma c.530T>A p.V177E 17:7674884-7674884 10
30 COSM111807840 TP53 skin,hand,carcinoma,squamous cell carcinoma c.845G>C p.R282P 17:7673775-7673775 10
31 COSM144652672 TP53 skin,hand,carcinoma,squamous cell carcinoma c.739G>A p.E247K 17:7673764-7673764 10
32 COSM143000079 TP53 skin,hand,carcinoma,squamous cell carcinoma c.590T>C p.V197A 17:7674941-7674941 10
33 COSM105621045 TP53 skin,hand,carcinoma,squamous cell carcinoma c.673-1G>A p.? 17:7674291-7674291 10
34 COSM93198616 TP53 skin,hand,carcinoma,squamous cell carcinoma c.310C>T p.Q104* 17:7676059-7676059 10
35 COSM105627660 TP53 skin,hand,carcinoma,squamous cell carcinoma c.647T>A p.V216E 17:7674884-7674884 10
36 COSM144650760 TP53 skin,hand,carcinoma,squamous cell carcinoma c.701G>A p.R234H 17:7673802-7673802 10
37 COSM111909038 TP53 skin,hand,carcinoma,squamous cell carcinoma c.950A>G p.Q317R 17:7673578-7673578 10
38 COSM144087357 TP53 skin,hand,carcinoma,squamous cell carcinoma c.83-1G>A p.? 17:7674972-7674972 10
39 COSM106067323 TP53 skin,hand,carcinoma,squamous cell carcinoma c.310C>T p.Q104* 17:7676059-7676059 10
40 COSM144014790 TP53 skin,hand,carcinoma,squamous cell carcinoma c.823G>A p.E275K 17:7673764-7673764 10
41 COSM122278245 TP53 skin,hand,carcinoma,squamous cell carcinoma c.251T>A p.V84E 17:7674884-7674884 10
42 COSM122740574 TP53 skin,hand,carcinoma,squamous cell carcinoma c.251T>A p.V84E 17:7674884-7674884 10
43 COSM105627464 TP53 skin,hand,carcinoma,squamous cell carcinoma c.260C>A p.P87Q 17:7676109-7676109 10
44 COSM112268626 TP53 skin,hand,carcinoma,squamous cell carcinoma c.310C>T p.Q104* 17:7676059-7676059 10
45 COSM144440622 TP53 skin,hand,carcinoma,squamous cell carcinoma c.833A>G p.Q278R 17:7673578-7673578 10
46 COSM93190806 TP53 skin,hand,carcinoma,squamous cell carcinoma c.647T>A p.V216E 17:7674884-7674884 10
47 COSM106140358 TP53 skin,hand,carcinoma,squamous cell carcinoma c.565G>C p.A189P 17:7674966-7674966 10
48 COSM142838326 TP53 skin,hand,carcinoma,squamous cell carcinoma c.856G>A p.E286K 17:7673764-7673764 10
49 COSM122272113 TP53 skin,hand,carcinoma,squamous cell carcinoma c.277-1G>A p.? 17:7674291-7674291 10
50 COSM111758217 TP53 skin,hand,carcinoma,squamous cell carcinoma c.818G>A p.R273H 17:7673802-7673802 10

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

Cellular components related to Tylosis with Esophageal Cancer according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.66 SSR3 SSR2 RHBDL2 RHBDL1 RHBDF2 RHBDF1
2 membrane GO:0016021 9.66 SSR3 SSR2 RHBDL2 RHBDL1 RHBDF2 RHBDF1

Biological processes related to Tylosis with Esophageal Cancer according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of protein secretion GO:0050709 9.56 RHBDF2 RHBDF1
2 regulation of protein secretion GO:0050708 9.46 RHBDF2 RHBDF1
3 positive regulation of epidermal growth factor-activated receptor activity GO:0045741 9.26 AREG ADAM17
4 regulation of epidermal growth factor receptor signaling pathway GO:0042058 8.92 RHBDF2 RHBDF1

Molecular functions related to Tylosis with Esophageal Cancer according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 serine-type endopeptidase activity GO:0004252 9.23 RHBDL2 RHBDL1 RHBDF2 RHBDF1

Sources for Tylosis with Esophageal Cancer

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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