MCID: MLT122
MIFTS: 25

Multiple Self-Healing Squamous Epithelioma, Susceptiblity to malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Skin 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 52 12
Multiple Self-Healing Squamous Epithelioma 24 54 70 27 68
Msse 48 54 70
Self-Healing Squamous Epithelioma Type 1 54 70
Ferguson-Smith Type Epithelioma 48 70
Ferguson-Smith Disease 54 70
 
Familial Primary Self-Healing Squamous Epithelioma of the Skin, Ferguson-Smith Type 54
Multiple Self-Healing Squamous Epithelioma, Susceptibility to 52
Ferguson-Smith Type Epithelioma, Ess1, Formerly 24
Multiple Keratoacanthoma, Ferguson-Smith Type 54
Multiple Self Healing Squamous Epithelioma 48
Ess1 70

Characteristics:

Orphanet epidemiological data:

54
multiple self-healing squamous epithelioma:
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood,Elderly; Age of death: normal life expectancy

HPO:

64
multiple self-healing squamous epithelioma, susceptiblity to:
Inheritance: autosomal dominant inheritance
Onset and clinical course: onset

Classifications:



External Ids:

OMIM52 132800
Orphanet54 ORPHA65748
ICD10 via Orphanet31 C44.6, C44.7, C44.3
MedGen37 C0546476
MeSH39 D007636

Summaries for Multiple Self-Healing Squamous Epithelioma, Susceptiblity to

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OMIM:52 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 xeroderma pigmentosum, group a, and has symptoms including 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:70 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
1familial keratoacanthoma11.4
2xeroderma pigmentosum, group a10.0
3keratoacanthoma10.0
4neuropathy10.0

Symptoms & Phenotypes for Multiple Self-Healing Squamous Epithelioma, Susceptiblity to

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Symptoms by clinical synopsis from OMIM:

132800

Clinical features from OMIM:

132800

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

 64
id Description HPO Frequency HPO Source Accession
1 abnormality of the skin64 HP:0000951
2 neoplasm64 HP:0002664

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 Epithelioma27
2 Multiple Self-Healing Squamous Epithelioma24 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:

36
Skin, Eye

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:

70
id Symbol AA change Variation ID SNP ID
1TGFBR1p.Cys41TyrVAR_065826
2TGFBR1p.Asn45SerVAR_065827rs387906696
3TGFBR1p.Gly52ArgVAR_065828rs587776865
4TGFBR1p.Pro83LeuVAR_065829rs757374917

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)SNVPathogenic, risk factorrs387906696GRCh37Chr 9, 101891173: 101891173
2TGFBR1NM_004612.3(TGFBR1): c.154G> C (p.Gly52Arg)SNVrisk factorrs587776865GRCh37Chr 9, 101891193: 101891193
3TGFBR1NM_004612.3(TGFBR1): c.806-2A> CSNVrisk factorrs587776866GRCh37Chr 9, 101904816: 101904816
4TGFBR1NM_004612.3(TGFBR1): c.1240C> T (p.Arg414Ter)SNVrisk 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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet