ESS1
MCID: MLT058
MIFTS: 30

Multiple Self Healing Squamous Epithelioma (ESS1) malady

Summaries for Multiple Self Healing Squamous Epithelioma

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MalaCards: Multiple Self Healing Squamous Epithelioma, also known as multiple self-healing squamous epithelioma, is related to xeroderma pigmentosum and keratoacanthoma. An important gene associated with Multiple Self Healing Squamous Epithelioma is TGFBR1 (transforming growth factor, beta receptor 1), and among its related pathways are TGF Beta Signaling Pathway and TGF-beta receptor signaling activates SMADs. The compounds ivig and toxin a have been mentioned in the context of this disorder. Related mouse phenotypes are craniofacial and tumorigenesis.

Aliases & Classifications for Multiple Self Healing Squamous Epithelioma

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42NIH Rare Diseases, 22GTR, 60UMLS
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Aliases & Descriptions:

multiple self healing squamous epithelioma 42 22
multiple self-healing squamous epithelioma 60
ferguson-smith type epithelioma 42
msse 42
ess1 42


Related Diseases for Multiple Self Healing Squamous Epithelioma

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17GeneCards, 18GeneDecks
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Diseases related to Multiple Self Healing Squamous Epithelioma via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 38)
idRelated DiseaseScoreTop Affiliating Genes
1xeroderma pigmentosum30.6PTCH1, XPA
2keratoacanthoma30.5DSG3
3squamous cell carcinoma30.5TGFBR1, FANCC, XPA, DSG3, DSG1, PTCH1
4melanoma30.1PTCH1, DSG1
5basal cell carcinoma30.1XPA, PTCH1, TGFBR2
6multiple self-healing squamous epithelioma, susceptiblity to10.7
7hereditary sensory neuropathy10.4
8neuropathy10.4
9skin squamous cell carcinoma10.4
10multiple congenital anomalies-hypotonia-seizures syndrome 110.4
11familial keratoacanthoma10.4
12xeroderma pigmentosum, group a10.1
13pemphigus vegetans10.0DSG1
14bullous impetigo10.0DSG1
15subcorneal pustular dermatosis10.0DSG1
16nevoid basal cell carcinoma syndrome10.0PTCH1
17ritter's disease10.0DSG1
18hereditary hemorrhagic telangiectasia10.0TGFBR1
19epidermolysis bullosa acquisita10.0DSG1
20sarcoma10.0DSG1
21loeys-dietz syndrome type 2a10.0
22loeys-dietz syndrome type 1a10.0
23lichen planus10.0DSG3
24thoracic aortic aneurysms and aortic dissections10.0TGFBR1, TGFBR2
25loeys-dietz syndrome10.0TGFBR1, TGFBR2
26marfan syndrome10.0TGFBR1, TGFBR2
27fanconi's anemia10.0PTCH1, FANCC
28skin benign neoplasm10.0PTCH1, XPA
29pituitary adenoma10.0TGFBR1, TGFBR2
30bullous skin disease10.0DSG1, DSG3
31lung adenocarcinoma10.0XPA, TGFBR2, TGFBR1
32transitional cell carcinoma10.0PTCH1, TGFBR2, TGFBR1
33pemphigus foliaceus10.0DSG3, DSG1
34squamous cell carcinoma of the head and neck10.0FANCC, TGFBR2, TGFBR1
35bullous pemphigoid10.0DSG3, DSG1
36ovarian cancer10.0TGFBR1, TGFBR2, XPA
37lung cancer10.0XPA, DSG1, TGFBR2, TGFBR1
38pancreatic cancer10.0TGFBR1, TGFBR2, PTCH1, FANCC

Graphical network of the top 20 diseases related to Multiple Self Healing Squamous Epithelioma:



Diseases related to multiple self healing squamous epithelioma

Clinical Features for Multiple Self Healing Squamous Epithelioma

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Drugs & Therapeutics for Multiple Self Healing Squamous Epithelioma

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Multiple Self Healing Squamous Epithelioma

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22GTR
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Genetic tests related to Multiple Self Healing Squamous Epithelioma:

id Genetic test Affiliating Genes
1 Multiple Self Healing Squamous Epithelioma22

Anatomical Context for Multiple Self Healing Squamous Epithelioma

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Animal Models for Multiple Self Healing Squamous Epithelioma or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Multiple Self Healing Squamous Epithelioma:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.7TGFBR2, PTCH1, DSG3, XPA
2MP:00020068.6XPA, PTCH1, TGFBR2, TGFBR1
3MP:00053908.5FANCC, XPA, PTCH1, TGFBR2, TGFBR1
4MP:00053978.0TGFBR1, TGFBR2, PTCH1, DSG3, XPA, FANCC
5MP:00053877.9FANCC, XPA, DSG3, PTCH1, TGFBR2, TGFBR1
6MP:00053847.8FANCC, XPA, DSG3, PTCH1, TGFBR2, TGFBR1

Publications for Multiple Self Healing Squamous Epithelioma

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Genetic Variations for Multiple Self Healing Squamous Epithelioma

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Expression for genes affiliated with Multiple Self Healing Squamous Epithelioma

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Multiple Self Healing Squamous Epithelioma

Search GEO for disease gene expression data for Multiple Self Healing Squamous Epithelioma.

Pathways for genes affiliated with Multiple Self Healing Squamous Epithelioma

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37NCBI BioSystems Database, 53Reactome, 4Cell Signaling Technology, 12EMD Millipore, 51QIAGEN, 29KEGG, 59Tocris Bioscience, 52R&D Systems
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Pathways related to Multiple Self Healing Squamous Epithelioma according to GeneCards/GeneDecks:

(show all 21)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.2TGFBR1
2
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9.6TGFBR2, TGFBR1
39.6TGFBR1, TGFBR2
49.6TGFBR2, TGFBR1
59.6TGFBR1, TGFBR2
69.6TGFBR1, TGFBR2
7
Cytokine production by Th17 cells in CF (Mouse model)
9.6TGFBR1, TGFBR2
89.6TGFBR2, TGFBR1
9
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9.6TGFBR2, TGFBR1
109.6TGFBR1, TGFBR2
11
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9.6TGFBR2, TGFBR1
12
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9.6TGFBR2, TGFBR1
13
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9.6TGFBR2, TGFBR1
14
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9.6TGFBR1, TGFBR2
15
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9.6TGFBR1, TGFBR2
16
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9.6TGFBR2, TGFBR1
179.6TGFBR2, TGFBR1
189.6TGFBR2, TGFBR1
199.6DSG3, DSG1
20
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9.6DSG3, DSG1
219.2TGFBR1, PTCH1, TGFBR2

Compounds for genes affiliated with Multiple Self Healing Squamous Epithelioma

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44Novoseek
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Compounds related to Multiple Self Healing Squamous Epithelioma according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1ivig449.6DSG1, DSG3
2toxin a449.3DSG1, DSG3

GO Terms for genes affiliated with Multiple Self Healing Squamous Epithelioma

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16Gene Ontology
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Cellular components related to Multiple Self Healing Squamous Epithelioma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transforming growth factor beta receptor homodimeric complexGO:0700229.6TGFBR1, TGFBR2
2caveolaGO:0059019.5TGFBR2, PTCH1
3desmosomeGO:0300579.5DSG1, DSG3
4receptor complexGO:0432359.3TGFBR1, TGFBR2

Biological processes related to Multiple Self Healing Squamous Epithelioma according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1pharyngeal system developmentGO:0600379.9TGFBR1, PTCH1
2response to cholesterolGO:0707239.9TGFBR1, TGFBR2
3pathway-restricted SMAD protein phosphorylationGO:0603899.8TGFBR1, TGFBR2
4embryonic cranial skeleton morphogenesisGO:0487019.7TGFBR2, TGFBR1
5lens development in camera-type eyeGO:0020889.7TGFBR2, TGFBR1
6peptidyl-threonine phosphorylationGO:0181079.6TGFBR1, TGFBR2
7wound healingGO:0420609.6TGFBR1, TGFBR2
8cellular component disassembly involved in execution phase of apoptosisGO:0069219.5DSG3, DSG1
9smoothened signaling pathwayGO:0072249.2TGFBR2, PTCH1
10apoptotic processGO:0069158.9DSG3, DSG1, TGFBR2, TGFBR1

Molecular functions related to Multiple Self Healing Squamous Epithelioma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transmembrane receptor protein serine/threonine kinase activityGO:0046759.6TGFBR1, TGFBR2
2SMAD bindingGO:0463329.6TGFBR1, TGFBR2
3transforming growth factor beta bindingGO:0504319.5TGFBR1, TGFBR2
4transforming growth factor beta-activated receptor activityGO:0050249.3TGFBR1, TGFBR2

Products for genes affiliated with Multiple Self Healing Squamous Epithelioma

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Sources for Multiple Self Healing Squamous Epithelioma

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet