MCID: MLT122
MIFTS: 29

Multiple Self-Healing Squamous Epithelioma, Susceptiblity to malady

Genetic diseases, Rare diseases, Eye diseases, Skin diseases, Cancer diseases categories

Aliases & Classifications for Multiple Self-Healing Squamous Epithelioma, Susceptiblity to

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Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 67UniProtKB/Swiss-Prot, 51Orphanet, 24GTR, 65UMLS, 28ICD10 via Orphanet, 34MedGen, 36MeSH
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Aliases & Descriptions for Multiple Self-Healing Squamous Epithelioma, Susceptiblity to:

Name: Multiple Self-Healing Squamous Epithelioma, Susceptiblity to 49 11
Multiple Self-Healing Squamous Epithelioma 51 24 65 67
Msse 45 51 67
Multiple Self Healing Squamous Epithelioma 45 22
Self-Healing Squamous Epithelioma Type 1 51 67
Ferguson-Smith Type Epithelioma 45 67
 
Ferguson-Smith Disease 51 67
Ess1 45 67
Familial Primary Self-Healing Squamous Epithelioma of the Skin, Ferguson-Smith Type 51
Ferguson-Smith Type Epithelioma, Ess1, Formerly 22
Multiple Keratoacanthoma, Ferguson-Smith Type 51


Classifications:



Characteristics (Orphanet epidemiological data):

51
multiple self-healing squamous epithelioma:
Inheritance: Autosomal dominant; Age of onset: All ages; Age of death: normal life expectancy


External Ids:

OMIM49 132800
Orphanet51 65748
ICD10 via Orphanet28 D23
MedGen34 C0546476
MeSH36 D007636

Summaries for Multiple Self-Healing Squamous Epithelioma, Susceptiblity to

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OMIM:49 Individuals with multiple self-healing squamous epithelioma (MSSE) develop multiple invasive skin tumors that undergo... (132800) more...

MalaCards based summary: Multiple Self-Healing Squamous Epithelioma, Susceptiblity to, also known as multiple self-healing squamous epithelioma, is related to muir-torre syndrome and xeroderma pigmentosum, group a, and has symptoms including autosomal dominant inheritance, abnormality of the skin and neoplasm. An important gene associated with Multiple Self-Healing Squamous Epithelioma, Susceptiblity to is TGFBR1 (Transforming Growth Factor, Beta Receptor 1). Affiliated tissues include skin and eye.

UniProtKB/Swiss-Prot:67 Multiple self-healing squamous epithelioma: A disorder characterized by multiple skin tumors that undergo spontaneous regression. Tumors appear most often on sun-exposed regions, are locally invasive, and undergo spontaneous resolution over a period of months leaving pitted scars.

Related Diseases for Multiple Self-Healing Squamous Epithelioma, Susceptiblity to

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Diseases related to Multiple Self-Healing Squamous Epithelioma, Susceptiblity to via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1muir-torre syndrome10.4
2xeroderma pigmentosum, group a10.4
3hereditary sensory neuropathy10.4
4keratoacanthoma10.4
5neuropathy10.4

Graphical network of diseases related to Multiple Self-Healing Squamous Epithelioma, Susceptiblity to:



Diseases related to multiple self-healing squamous epithelioma, susceptiblity to

Symptoms for Multiple Self-Healing Squamous Epithelioma, Susceptiblity to

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Symptoms by clinical synopsis from OMIM:

132800

Clinical features from OMIM:

132800

HPO human phenotypes related to Multiple Self-Healing Squamous Epithelioma, Susceptiblity to:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 abnormality of the skin HP:0000951
3 neoplasm HP:0002664
4 onset HP:0003674

Drugs & Therapeutics for Multiple Self-Healing Squamous Epithelioma, Susceptiblity to

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Multiple Self-Healing Squamous Epithelioma, Susceptiblity to

Genetic Tests for Multiple Self-Healing Squamous Epithelioma, Susceptiblity to

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Genetic tests related to Multiple Self-Healing Squamous Epithelioma, Susceptiblity to:

id Genetic test Affiliating Genes
1 Multiple Self-Healing Squamous Epithelioma22 TGFBR1
2 Multiple Self Healing Squamous Epithelioma24

Anatomical Context for Multiple Self-Healing Squamous Epithelioma, Susceptiblity to

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MalaCards organs/tissues related to Multiple Self-Healing Squamous Epithelioma, Susceptiblity to:

33
Skin, Eye

Animal Models for Multiple Self-Healing Squamous Epithelioma, Susceptiblity to or affiliated genes

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Publications for Multiple Self-Healing Squamous Epithelioma, Susceptiblity to

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Variations for Multiple Self-Healing Squamous Epithelioma, Susceptiblity to

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UniProtKB/Swiss-Prot genetic disease variations for Multiple Self-Healing Squamous Epithelioma, Susceptiblity to:

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id Symbol AA change Variation ID SNP ID
1TGFBR1p.Cys41TyrVAR_065826
2TGFBR1p.Asn45SerVAR_065827
3TGFBR1p.Gly52ArgVAR_065828
4TGFBR1p.Pro83LeuVAR_065829

Clinvar genetic disease variations for Multiple Self-Healing Squamous Epithelioma, Susceptiblity to:

5
id Gene Variation Type Significance SNP ID Assembly Location
1TGFBR1NM_004612.3(TGFBR1): c.134A> G (p.Asn45Ser)single nucleotide variantPathogenic, risk factorrs387906696GRCh37Chr 9, 101891173: 101891173
2TGFBR1NM_004612.3(TGFBR1): c.154G> C (p.Gly52Arg)single nucleotide variantrisk factorrs587776865GRCh37Chr 9, 101891193: 101891193
3TGFBR1NM_004612.3(TGFBR1): c.806-2A> Csingle nucleotide variantrisk factorrs587776866GRCh37Chr 9, 101904816: 101904816
4TGFBR1NM_004612.3(TGFBR1): c.1240C> T (p.Arg414Ter)single nucleotide variantrisk factorrs387906697GRCh37Chr 9, 101908876: 101908876

Expression for genes affiliated with Multiple Self-Healing Squamous Epithelioma, Susceptiblity to

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Search GEO for disease gene expression data for Multiple Self-Healing Squamous Epithelioma, Susceptiblity to.

Pathways for genes affiliated with Multiple Self-Healing Squamous Epithelioma, Susceptiblity to

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GO Terms for genes affiliated with Multiple Self-Healing Squamous Epithelioma, Susceptiblity to

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Sources for Multiple Self-Healing Squamous Epithelioma, Susceptiblity to

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet