MCID: MLT122
MIFTS: 27

Multiple Self-Healing Squamous Epithelioma, Susceptiblity to malady

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

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

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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 22 51 67 24 65
Msse 45 51 67
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
Multiple Self Healing Squamous Epithelioma 45

Characteristics:

Orphanet epidemiological data:

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

HPO:

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multiple self-healing squamous epithelioma, susceptiblity to:
Onset and clinical course: onset
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 132800
Orphanet51 65748
ICD10 via Orphanet28 D23
MedGen34 C0546476
MeSH36 D007636
UMLS65 C0546476

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 familial keratoacanthoma and insulin-like growth factor i, and has symptoms including neoplasmand abnormality of the skin. 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:

(show all 17)
idRelated DiseaseScoreTop Affiliating Genes
1familial keratoacanthoma11.9
2insulin-like growth factor i10.3
3endocarditis10.3
4pancytopenia10.3
5right bundle branch block10.3
6langerhans-cell histiocytosis10.3
7histiocytosis10.3
8cerebritis10.3
9non-langerhans-cell histiocytosis10.3
10subacute bacterial endocarditis10.3
11acute respiratory distress syndrome10.3
12zygomycosis10.3
13headache10.3
14silicosis10.3
15thrombotic thrombocytopenic purpura10.3
16purpura10.3
17hemoglobin e disease10.3

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 neoplasm HP:0002664
2 abnormality of the skin HP:0000951

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

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