MCID: MLT122
MIFTS: 24

Multiple Self-Healing Squamous Epithelioma, Susceptiblity to malady

Genetic diseases, Rare diseases categories

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 46 9
Multiple Self-Healing Squamous Epithelioma 46 61
Multiple Self Healing Squamous Epithelioma 42 22
 
Ferguson-Smith Type Epithelioma 42
Ess1 42
Msse 42


Classifications:



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OMIM46 132800

Summaries for Multiple Self-Healing Squamous Epithelioma, Susceptiblity to

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OMIM:46 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 multiple keratoacanthoma, ferguson-smith type and muir-torre syndrome, 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 MSSE (multiple self-healing squamous epithelioma). Affiliated tissues include skin.

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
1multiple keratoacanthoma, ferguson-smith type10.6
2muir-torre syndrome10.5
3xeroderma pigmentosum, group a10.5
4hereditary sensory neuropathy10.5
5keratoacanthoma10.5
6neuropathy10.5
7loeys-dietz syndrome, type 110.1

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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Drug clinical trials:

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

Search 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

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:

31
Skin

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:

63
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_004612.2(TGFBR1): c.134A> G (p.Asn45Ser)single nucleotide variantrisk factorrs387906696GRCh37Chr 9, 101891173: 101891173
2TGFBR1NM_004612.2(TGFBR1): c.154G> C (p.Gly52Arg)single nucleotide variantrisk factorGRCh37Chr 9, 101891193: 101891193
3TGFBR1NM_004612.2(TGFBR1): c.806-2A> Csingle nucleotide variantrisk factorGRCh37Chr 9, 101904816: 101904816
4TGFBR1NM_004612.2(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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Compounds 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
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet