ESS1
MCID: MLT058
MIFTS: 29

Multiple Self Healing Squamous Epithelioma (ESS1) malady

Summaries for Multiple Self Healing Squamous Epithelioma

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33MalaCards
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MalaCards: Multiple Self Healing Squamous Epithelioma, also known as multiple self-healing squamous epithelioma, is related to xeroderma pigmentosum and squamous cell carcinoma. 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

Sources:
43NIH Rare Diseases, 22GTR, 61UMLS
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Aliases & Descriptions:

multiple self healing squamous epithelioma 43 22
multiple self-healing squamous epithelioma 61
ferguson-smith type epithelioma 43
msse 43
ess1 43


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 39)
idRelated DiseaseScoreTop Affiliating Genes
1xeroderma pigmentosum30.6XPA, PTCH1
2squamous cell carcinoma30.6DSG1, TGFBR1, TGFBR2, PTCH1, FANCC, DSG3
3basal cell carcinoma30.2TGFBR2, XPA, PTCH1
4multiple self-healing squamous epithelioma, susceptiblity to10.7
5skin squamous cell carcinoma10.4
6xeroderma pigmentosum, group c10.4
7xeroderma pigmentosum, group g10.4
8multiple congenital anomalies-hypotonia-seizures syndrome 110.4
9familial keratoacanthoma10.4
10xeroderma pigmentosum, group a10.1
11loeys-dietz syndrome type 2a10.0
12loeys-dietz syndrome type 1a10.0
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
21lichen planus10.0DSG3
22thoracic aortic aneurysms and aortic dissections10.0TGFBR2, TGFBR1
23skin cancer10.0XPA, PTCH1
24loeys-dietz syndrome10.0TGFBR2, TGFBR1
25melanoma10.0PTCH1, DSG1
26marfan syndrome10.0TGFBR1, TGFBR2
27fanconi's anemia10.0PTCH1, FANCC
28skin benign neoplasm10.0XPA, PTCH1
29pituitary adenoma10.0TGFBR1, TGFBR2
30bullous skin disease10.0DSG3, DSG1
31lung adenocarcinoma10.0TGFBR1, TGFBR2, XPA
32transitional cell carcinoma10.0PTCH1, TGFBR2, TGFBR1
33keratoacanthoma10.0DSG3
34pemphigus foliaceus10.0DSG3, DSG1
35squamous cell carcinoma of the head and neck10.0TGFBR1, TGFBR2, FANCC
36bullous pemphigoid10.0DSG3, DSG1
37ovarian cancer10.0XPA, TGFBR2, TGFBR1
38lung cancer10.0XPA, TGFBR2, TGFBR1, DSG1
39pancreatic cancer10.0PTCH1, TGFBR2, TGFBR1, 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

Drugs & Therapeutics for Multiple Self Healing Squamous Epithelioma

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for Multiple Self Healing Squamous Epithelioma

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

Animal Models for Multiple Self Healing Squamous Epithelioma or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Multiple Self Healing Squamous Epithelioma:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.7XPA, DSG3, PTCH1, TGFBR2
2MP:00020068.6TGFBR1, TGFBR2, PTCH1, XPA
3MP:00053908.5TGFBR1, FANCC, XPA, PTCH1, TGFBR2
4MP:00053978.0XPA, TGFBR1, FANCC, TGFBR2, DSG3, PTCH1
5MP:00053877.9XPA, DSG3, PTCH1, TGFBR2, FANCC, TGFBR1
6MP:00053847.8FANCC, TGFBR1, TGFBR2, PTCH1, DSG3, XPA

Publications for Multiple Self Healing Squamous Epithelioma

Genetic Variations for Multiple Self Healing Squamous Epithelioma

Expression for genes affiliated with Multiple Self Healing Squamous Epithelioma

Sources:
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

Sources:
38NCBI BioSystems Database, 54Reactome, 4Cell Signaling Technology, 12EMD Millipore, 52QIAGEN, 30KEGG, 60Tocris Bioscience, 53R&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
Hide members
9.6TGFBR2, TGFBR1
39.6TGFBR1, TGFBR2
49.6TGFBR1, TGFBR2
59.6TGFBR1, TGFBR2
69.6TGFBR2, TGFBR1
7
Cytokine production by Th17 cells in CF (Mouse model)
9.6TGFBR1, TGFBR2
89.6TGFBR2, TGFBR1
9
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9.6TGFBR1, TGFBR2
109.6TGFBR2, TGFBR1
11
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9.6TGFBR2, TGFBR1
12
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9.6TGFBR1, TGFBR2
13
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9.6TGFBR1, TGFBR2
14
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9.6TGFBR1, TGFBR2
15
Hide members
9.6TGFBR2, TGFBR1
169.6TGFBR1, TGFBR2
179.6TGFBR1, TGFBR2
18
Hide members
9.6TGFBR2, TGFBR1
199.6DSG3, DSG1
20
Hide members
9.6DSG1, DSG3
219.2TGFBR1, TGFBR2, PTCH1

Compounds for genes affiliated with Multiple Self Healing Squamous Epithelioma

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45Novoseek
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Compounds related to Multiple Self Healing Squamous Epithelioma according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1ivig459.6DSG1, DSG3
2toxin a459.3DSG1, DSG3

GO Terms for genes affiliated with Multiple Self Healing Squamous Epithelioma

Sources:
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

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet