TOC
MCID: TYL002
MIFTS: 43

Tylosis with Esophageal Cancer (TOC)

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

Aliases & Classifications for Tylosis with Esophageal Cancer

MalaCards integrated aliases for Tylosis with Esophageal Cancer:

Name: Tylosis with Esophageal Cancer 57 12 20 72 13 70
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome 12 20 58 29 6 15
Keratosis Palmaris Et Plantaris with Esophageal Cancer 57 12 20 72
Toc 57 12 20 72
Palmoplantar Hyperkeratosis-Esophageal Carcinoma Syndrome 12 20 58
Keratosis Palmoplantaris-Esophageal Carcinoma Syndrome 12 20 58
Tylosis-Oesophageal Carcinoma Syndrome 12 20 58
Bennion-Patterson Syndrome 12 20 58
Howell-Evans Syndrome 12 20 58
Palmoplantar Keratoderma with Esophageal Cancer 57 12
Keratosis Palmoplantaris with Esophageal Cancer 20 44
Tylosis - Oesophageal Carcinoma 20
Tylosis, with Esophageal Cancer 39
Howel-Evans' Syndrome 70
Howel-Evans Syndrome 20

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:

31
tylosis with esophageal cancer:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare gastroenterological diseases
Rare skin diseases


Summaries for Tylosis with Esophageal Cancer

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...

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 105)
# Related Disease Score Top Affiliating Genes
1 papillon-lefevre syndrome 11.3
2 evans' syndrome 10.4
3 esophageal cancer 10.4
4 neuroendocrine tumor 10.3
5 thyroid carcinoma 10.3
6 palmoplantar keratosis 10.2
7 osteomalacia 10.2
8 pheochromocytoma 10.2
9 paraganglioma 10.2
10 adrenal gland pheochromocytoma 10.2
11 neuroendocrine carcinoma 10.2
12 melanoma 10.2
13 leiomyosarcoma 10.2
14 oncogenic osteomalacia 10.2
15 juvenile astrocytoma 10.1 MIR376A1 ADAR
16 leukoplakia 10.1
17 skin disease 10.1
18 ovarian cancer 10.1
19 dyschromatosis symmetrica hereditaria 10.1 MIR376A1 ADAR
20 palmoplantar keratoderma, epidermolytic 10.1
21 thyroid carcinoma, familial medullary 10.1
22 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.1
23 meningioma, familial 10.1
24 intracranial meningioma 10.1
25 liposarcoma 10.1
26 thyroid gland medullary carcinoma 10.1
27 secretory meningioma 10.1
28 lymphoplasmacyte-rich meningioma 10.1
29 adenoma 10.1
30 pigmentation disease 10.0 MIR376A1 INS ADAR
31 palmoplantar keratoderma, nonepidermolytic 10.0
32 palmoplantar keratoderma, nonepidermolytic, focal 1 10.0
33 hypophosphatemia 10.0
34 adenocarcinoma 10.0
35 mesenchymal cell neoplasm 10.0
36 barrett's adenocarcinoma 10.0
37 carcinoid syndrome 10.0
38 aromatase deficiency 9.9 INS BGLAP
39 multiple endocrine neoplasia, type i 9.9
40 pancreatic cancer 9.9
41 castleman disease 9.9
42 multiple endocrine neoplasia 9.9
43 pituitary adenoma 9.9
44 ovarian epithelial cancer 9.9
45 differentiated thyroid carcinoma 9.9
46 alzheimer disease 9.8
47 renal cell carcinoma, nonpapillary 9.8
48 lipomatosis, multiple 9.8
49 obsessive-compulsive disorder 9.8
50 von hippel-lindau syndrome 9.8

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 31 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nausea and vomiting 58 31 hallmark (90%) Very frequent (99-80%) HP:0002017
2 palmoplantar keratoderma 58 31 hallmark (90%) Very frequent (99-80%) HP:0000982
3 gastrointestinal hemorrhage 58 31 hallmark (90%) Very frequent (99-80%) HP:0002239
4 esophageal neoplasm 58 31 hallmark (90%) Very frequent (99-80%) HP:0100751
5 abnormal large intestine morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0002250
6 dysphagia 58 31 frequent (33%) Frequent (79-30%) HP:0002015
7 hepatomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002240
8 gastroesophageal reflux 58 31 frequent (33%) Frequent (79-30%) HP:0002020
9 ascites 58 31 frequent (33%) Frequent (79-30%) HP:0001541
10 weight loss 58 31 frequent (33%) Frequent (79-30%) HP:0001824
11 poor suck 58 31 frequent (33%) Frequent (79-30%) HP:0002033
12 poor appetite 58 31 frequent (33%) Frequent (79-30%) HP:0004396
13 abnormality of the mediastinum 58 31 frequent (33%) Frequent (79-30%) HP:0045026
14 clubbing of toes 58 31 occasional (7.5%) Occasional (29-5%) HP:0100760
15 neoplasm 31 HP:0002664
16 abnormality of the mouth 31 HP:0000153
17 esophageal carcinoma 31 HP:0011459
18 parakeratosis 31 HP:0001036
19 abnormality of esophagus physiology 58 Frequent (79-30%)
20 diffuse palmoplantar hyperkeratosis 31 HP:0007447

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 05-Apr-2021)

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 29 RHBDF2

Anatomical Context for Tylosis with Esophageal Cancer

MalaCards organs/tissues related to Tylosis with Esophageal Cancer:

40
Breast

Publications for Tylosis with Esophageal Cancer

Articles related to Tylosis with Esophageal Cancer:

(show all 30)
# Title Authors PMID Year
1
Analysis of a Finnish family confirms RHBDF2 mutations as the underlying factor in tylosis with esophageal cancer. 61 57 6
22638770 2012
2
RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome. 6 57
22265016 2012
3
Carcinoma of the esophagus and tylosis. A lethal genetic combination. 57 6
8508402 1993
4
Six cases of carcinoma of the oesophagus occurring in one family. 57 6
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. 61
33080304 2021
24
Whole Exome Sequencing Identified a Novel Mutation of the RHBDF2 Gene in a Chinese Family of Tylosis with Esophageal Cancer. 61
30938830 2019
25
RHBDF2-Regulated Growth Factor Signaling in a Rare Human Disease, Tylosis With Esophageal Cancer: What Can We Learn From Murine Models? 61
30022999 2018
26
iRhoms; Its Functions and Essential Roles. 61
26869525 2016
27
Deletions in the cytoplasmic domain of iRhom1 and iRhom2 promote shedding of the TNF receptor by the protease ADAM17. 61
26535007 2015
28
Carcinoma of stomach in a patient with familial tylosis. 61
12546174 2002
29
A sequence-ready BAC/PAC contig and partial transcript map of approximately 1.5 Mb in human chromosome 17q25 comprising multiple disease genes. 61
10610718 1999
30
An integrated physical and gene map of human distal chromosome 17q24-proximal 17q25 encompassing multiple disease loci. 61
10191081 1999

Variations for Tylosis with Esophageal Cancer

ClinVar genetic disease variations for Tylosis with Esophageal Cancer:

6 (show top 50) (show all 122)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RHBDF2 NM_024599.5(RHBDF2):c.557T>C (p.Ile186Thr) SNV Pathogenic 31178 rs387907129 GRCh37: 17:74475090-74475090
GRCh38: 17:76479008-76479008
2 RHBDF2 NM_024599.5(RHBDF2):c.566C>T (p.Pro189Leu) SNV Pathogenic 31179 rs387907130 GRCh37: 17:74475081-74475081
GRCh38: 17:76478999-76478999
3 RHBDF2 NM_001005498.4(RHBDF2):c.1531G>A (p.Gly511Ser) SNV Conflicting interpretations of pathogenicity 890958 GRCh37: 17:74470158-74470158
GRCh38: 17:76474076-76474076
4 RHBDF2 NM_024599.5(RHBDF2):c.2452G>A (p.Ala818Thr) SNV Conflicting interpretations of pathogenicity 325421 rs770206566 GRCh37: 17:74467834-74467834
GRCh38: 17:76471752-76471752
5 RHBDF2 NM_001005498.4(RHBDF2):c.956G>A (p.Arg319Gln) SNV Uncertain significance 997552 GRCh37: 17:74473071-74473071
GRCh38: 17:76476989-76476989
6 RHBDF2 NM_001005498.4(RHBDF2):c.2166C>A (p.Asn722Lys) SNV Uncertain significance 997609 GRCh37: 17:74468033-74468033
GRCh38: 17:76471951-76471951
7 RHBDF2 NM_001005498.4(RHBDF2):c.1993G>A (p.Ala665Thr) SNV Uncertain significance 997645 GRCh37: 17:74468839-74468839
GRCh38: 17:76472757-76472757
8 RHBDF2 NM_001005498.4(RHBDF2):c.2032G>A (p.Ala678Thr) SNV Uncertain significance 997655 GRCh37: 17:74468800-74468800
GRCh38: 17:76472718-76472718
9 RHBDF2 NM_001005498.4(RHBDF2):c.1039A>G (p.Asn347Asp) SNV Uncertain significance 892194 GRCh37: 17:74472988-74472988
GRCh38: 17:76476906-76476906
10 RHBDF2 NM_001005498.4(RHBDF2):c.-43G>A SNV Uncertain significance 888850 GRCh37: 17:74483815-74483815
GRCh38: 17:76487733-76487733
11 RHBDF2 NM_001005498.4(RHBDF2):c.*537G>A SNV Uncertain significance 890335 GRCh37: 17:74467178-74467178
GRCh38: 17:76471096-76471096
12 RHBDF2 NM_001005498.4(RHBDF2):c.*475T>G SNV Uncertain significance 890336 GRCh37: 17:74467240-74467240
GRCh38: 17:76471158-76471158
13 RHBDF2 NM_001005498.4(RHBDF2):c.666C>T (p.Leu222=) SNV Uncertain significance 890464 GRCh37: 17:74474894-74474894
GRCh38: 17:76478812-76478812
14 RHBDF2 NM_001005498.4(RHBDF2):c.822T>C (p.Pro274=) SNV Uncertain significance 888760 GRCh37: 17:74473360-74473360
GRCh38: 17:76477278-76477278
15 RHBDF2 NM_001005498.4(RHBDF2):c.98C>T (p.Pro33Leu) SNV Uncertain significance 888848 GRCh37: 17:74477509-74477509
GRCh38: 17:76481427-76481427
16 RHBDF2 NM_001005498.4(RHBDF2):c.*53G>T SNV Uncertain significance 892134 GRCh37: 17:74467662-74467662
GRCh38: 17:76471580-76471580
17 RHBDF2 NM_001005498.4(RHBDF2):c.*606C>T SNV Uncertain significance 888633 GRCh37: 17:74467109-74467109
GRCh38: 17:76471027-76471027
18 RHBDF2 NM_001005498.4(RHBDF2):c.*590C>T SNV Uncertain significance 888634 GRCh37: 17:74467125-74467125
GRCh38: 17:76471043-76471043
19 RHBDF2 NM_001005498.4(RHBDF2):c.2088C>T (p.Phe696=) SNV Uncertain significance 888693 GRCh37: 17:74468111-74468111
GRCh38: 17:76472029-76472029
20 RHBDF2 NM_024599.5(RHBDF2):c.2047G>T (p.Asp683Tyr) SNV Uncertain significance 325425 rs886053471 GRCh37: 17:74468872-74468872
GRCh38: 17:76472790-76472790
21 RHBDF2 NM_024599.5(RHBDF2):c.910del (p.Asp304fs) Deletion Uncertain significance 631789 rs1567876390 GRCh37: 17:74473359-74473359
GRCh38: 17:76477277-76477277
22 RHBDF2 NM_001005498.4(RHBDF2):c.899C>G (p.Pro300Arg) SNV Uncertain significance 888758 GRCh37: 17:74473283-74473283
GRCh38: 17:76477201-76477201
23 RHBDF2 NM_001005498.4(RHBDF2):c.560T>C (p.Val187Ala) SNV Uncertain significance 890466 GRCh37: 17:74475000-74475000
GRCh38: 17:76478918-76478918
24 RHBDF2 NM_001005498.4(RHBDF2):c.-175A>G SNV Uncertain significance 890543 GRCh37: 17:74483947-74483947
GRCh38: 17:76487865-76487865
25 RHBDF2 NM_001005498.4(RHBDF2):c.-220+12G>A SNV Uncertain significance 890544 GRCh37: 17:74497423-74497423
GRCh38: 17:76501341-76501341
26 RHBDF2 NM_001005498.4(RHBDF2):c.-228C>T SNV Uncertain significance 890545 GRCh37: 17:74497443-74497443
GRCh38: 17:76501361-76501361
27 RHBDF2 NM_001005498.4(RHBDF2):c.*405T>C SNV Uncertain significance 890901 GRCh37: 17:74467310-74467310
GRCh38: 17:76471228-76471228
28 RHBDF2 NM_001005498.4(RHBDF2):c.*342T>C SNV Uncertain significance 890902 GRCh37: 17:74467373-74467373
GRCh38: 17:76471291-76471291
29 RHBDF2 NM_001005498.4(RHBDF2):c.*205C>T SNV Uncertain significance 890903 GRCh37: 17:74467510-74467510
GRCh38: 17:76471428-76471428
30 RHBDF2 NM_001005498.4(RHBDF2):c.556G>A (p.Gly186Arg) SNV Uncertain significance 998385 GRCh37: 17:74475004-74475004
GRCh38: 17:76478922-76478922
31 RHBDF2 NM_001005498.4(RHBDF2):c.151-27G>T SNV Uncertain significance 892254 GRCh37: 17:74475963-74475963
GRCh38: 17:76479881-76479881
32 RHBDF2 NM_024599.5(RHBDF2):c.1896+11G>T SNV Uncertain significance 325428 rs374902969 GRCh37: 17:74469323-74469323
GRCh38: 17:76473241-76473241
33 RHBDF2 NM_024599.5(RHBDF2):c.2538C>T (p.Cys846=) SNV Uncertain significance 325420 rs886053470 GRCh37: 17:74467748-74467748
GRCh38: 17:76471666-76471666
34 RHBDF2 NM_024599.5(RHBDF2):c.*160G>A SNV Uncertain significance 325417 rs886053469 GRCh37: 17:74467555-74467555
GRCh38: 17:76471473-76471473
35 RHBDF2 NM_024599.5(RHBDF2):c.1389+12G>A SNV Uncertain significance 325440 rs375078739 GRCh37: 17:74470800-74470800
GRCh38: 17:76474718-76474718
36 RHBDF2 NM_024599.5(RHBDF2):c.1033C>T (p.Pro345Ser) SNV Uncertain significance 325446 rs777178007 GRCh37: 17:74473081-74473081
GRCh38: 17:76476999-76476999
37 RHBDF2 NM_024599.5(RHBDF2):c.*726T>G SNV Uncertain significance 325397 rs886053461 GRCh37: 17:74466989-74466989
GRCh38: 17:76470907-76470907
38 RHBDF2 NM_024599.5(RHBDF2):c.2248C>T (p.Leu750Phe) SNV Uncertain significance 325423 rs774772768 GRCh37: 17:74468038-74468038
GRCh38: 17:76471956-76471956
39 RHBDF2 NM_024599.5(RHBDF2):c.1662-8G>A SNV Uncertain significance 325435 rs886053472 GRCh37: 17:74469992-74469992
GRCh38: 17:76473910-76473910
40 RHBDF2 NM_024599.5(RHBDF2):c.*182G>A SNV Uncertain significance 325415 rs886053468 GRCh37: 17:74467533-74467533
GRCh38: 17:76471451-76471451
41 RHBDF2 NM_024599.5(RHBDF2):c.*449C>T SNV Uncertain significance 325409 rs886053464 GRCh37: 17:74467266-74467266
GRCh38: 17:76471184-76471184
42 RHBDF2 NM_024599.5(RHBDF2):c.*642G>A SNV Uncertain significance 325401 rs886053463 GRCh37: 17:74467073-74467073
GRCh38: 17:76470991-76470991
43 RHBDF2 NM_024599.5(RHBDF2):c.*310G>A SNV Uncertain significance 325412 rs886053466 GRCh37: 17:74467405-74467405
GRCh38: 17:76471323-76471323
44 RHBDF2 NM_024599.5(RHBDF2):c.1389+8C>T SNV Uncertain significance 325441 rs886053473 GRCh37: 17:74470804-74470804
GRCh38: 17:76474722-76474722
45 RHBDF2 NM_024599.5(RHBDF2):c.2160G>A (p.Pro720=) SNV Uncertain significance 325424 rs374520556 GRCh37: 17:74468126-74468126
GRCh38: 17:76472044-76472044
46 RHBDF2 NM_024599.5(RHBDF2):c.*536G>A SNV Uncertain significance 325407 rs765820971 GRCh37: 17:74467179-74467179
GRCh38: 17:76471097-76471097
47 RHBDF2 NM_024599.5(RHBDF2):c.*287C>T SNV Uncertain significance 325413 rs886053467 GRCh37: 17:74467428-74467428
GRCh38: 17:76471346-76471346
48 RHBDF2 NM_024599.5(RHBDF2):c.*366C>G SNV Uncertain significance 325410 rs886053465 GRCh37: 17:74467349-74467349
GRCh38: 17:76471267-76471267
49 RHBDF2 NM_024599.5(RHBDF2):c.1314+11T>C SNV Uncertain significance 325442 rs763218059 GRCh37: 17:74471101-74471101
GRCh38: 17:76475019-76475019
50 RHBDF2 NM_024599.5(RHBDF2):c.*702C>G SNV Uncertain significance 325399 rs886053462 GRCh37: 17:74467013-74467013
GRCh38: 17:76470931-76470931

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

72
# Symbol AA change Variation ID SNP ID
1 RHBDF2 p.Ile186Thr VAR_067827 rs387907129
2 RHBDF2 p.Pro189Leu VAR_067828 rs387907130

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

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

# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.72 TIMM8B SCFD2 RHBDF2 RHBDF1 RAB15
2 response to inorganic substance GO:0010035 9.26 BGLAP ALAD
3 regulation of epidermal growth factor receptor signaling pathway GO:0042058 9.16 RHBDF2 RHBDF1
4 negative regulation of protein secretion GO:0050709 9.13 RHBDF2 RHBDF1 INS
5 regulation of protein secretion GO:0050708 8.8 RHBDF2 RHBDF1 INS

Sources for Tylosis with Esophageal Cancer

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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