MCID: MLT152
MIFTS: 43

Multiple Self-Healing Squamous Epithelioma

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

Aliases & Classifications for Multiple Self-Healing Squamous Epithelioma

MalaCards integrated aliases for Multiple Self-Healing Squamous Epithelioma:

Name: Multiple Self-Healing Squamous Epithelioma 57 59 75 73
Msse 57 53 59 75
Multiple Self Healing Squamous Epithelioma 53 29 6
Self-Healing Squamous Epithelioma Type 1 59 75
Ferguson-Smith Type Epithelioma 53 75
Ferguson-Smith Disease 59 75
Familial Primary Self-Healing Squamous Epithelioma of the Skin, Ferguson-Smith Type 59
Multiple Self-Healing Squamous Epithelioma, Susceptibility to 57
Multiple Keratoacanthoma, Ferguson-Smith Type 59
Epithelioma, Squamous, Multiple Self Healing 40
Ferguson-Smith-Type Epithelioma 57
Ess1, Formerly 57
Ess1 75

Characteristics:

Orphanet epidemiological data:

59
multiple self-healing squamous epithelioma
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood,Elderly; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable age at onset (8 to 62 years)
increased frequency in individuals originating from western scotland


HPO:

32
multiple self-healing squamous epithelioma:
Inheritance autosomal dominant inheritance
Onset and clinical course onset


Classifications:



External Ids:

OMIM 57 132800
Orphanet 59 ORPHA65748
UMLS via Orphanet 74 C0546476
ICD10 via Orphanet 34 C44.6 C44.7 C44.3
MeSH 44 D007636
UMLS 73 C0546476

Summaries for Multiple Self-Healing Squamous Epithelioma

OMIM : 57 Individuals with multiple self-healing squamous epithelioma (MSSE) develop multiple invasive skin tumors that undergo spontaneous regression leaving pitted scars. Age at onset is highly variable, ranging from 8 to 62 years. The disorder shows autosomal dominant inheritance, and most affected families have originated from western Scotland (Bose et al., 2006). MSSE has been considered to be a variety of multiple keratoacanthoma (Biskind et al., 1957; Haydey et al., 1980). (132800)

MalaCards based summary : Multiple Self-Healing Squamous Epithelioma, also known as msse, is related to loeys-dietz syndrome and familial keratoacanthoma. An important gene associated with Multiple Self-Healing Squamous Epithelioma is TGFBR1 (Transforming Growth Factor Beta Receptor 1), and among its related pathways/superpathways are Immune response IFN gamma signaling pathway and TGF-beta signaling pathway (KEGG). Affiliated tissues include skin and eye, and related phenotypes are abnormality of the skin and neoplasm

UniProtKB/Swiss-Prot : 75 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

Graphical network of the top 20 diseases related to Multiple Self-Healing Squamous Epithelioma:



Diseases related to Multiple Self-Healing Squamous Epithelioma

Symptoms & Phenotypes for Multiple Self-Healing Squamous Epithelioma

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin:
squamous epitheliomas, multiple
tumors appear most often on sun-exposed regions
tumors are locally invasive
tumors undergo spontaneous resolution over a period of months
tumors leave pitting scars

Neoplasia:
squamous epitheliomas, multiple

Skin Nails Hair Skin Histology:
tumors are morphologically similar to well-differentiated squamous cell carcinoma


Clinical features from OMIM:

132800

Human phenotypes related to Multiple Self-Healing Squamous Epithelioma:

32
# Description HPO Frequency HPO Source Accession
1 abnormality of the skin 32 HP:0000951
2 neoplasm 32 HP:0002664

MGI Mouse Phenotypes related to Multiple Self-Healing Squamous Epithelioma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.55 FANCC PTCH1 TGFBR1 TGFBR2 XPA
2 neoplasm MP:0002006 9.26 PTCH1 TGFBR1 TGFBR2 XPA
3 skeleton MP:0005390 9.1 FANCC PTCH1 TGFBR1 TGFBR2 XPA DSG1

Drugs & Therapeutics for Multiple Self-Healing Squamous Epithelioma

Search Clinical Trials , NIH Clinical Center for Multiple Self-Healing Squamous Epithelioma

Genetic Tests for Multiple Self-Healing Squamous Epithelioma

Genetic tests related to Multiple Self-Healing Squamous Epithelioma:

# Genetic test Affiliating Genes
1 Multiple Self Healing Squamous Epithelioma 29 TGFBR1

Anatomical Context for Multiple Self-Healing Squamous Epithelioma

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

41
Skin, Eye

Publications for Multiple Self-Healing Squamous Epithelioma

Articles related to Multiple Self-Healing Squamous Epithelioma:

(show all 14)
# Title Authors Year
1
Distinct variants affecting differential splicing of TGFBR1 exon 5 cause either Loeys-Dietz syndrome or multiple self-healing squamous epithelioma. ( 29706644 )
2018
2
Late-Onset Multiple Self-Healing Squamous Epithelioma Ferguson-Smith Recurrence Induced by Radiotherapy. ( 28101021 )
2016
3
Digenic/multilocus aetiology of multiple self-healing squamous epithelioma (Ferguson-Smith disease): TGFBR1 and a second linked locus. ( 24747516 )
2014
4
Multiple self-healing squamous epithelioma (MSSE): rare variants in an adjacent region of chromosome 9q22.3 to known TGFBR1 mutations suggest a digenic or multilocus etiology. ( 23358096 )
2013
5
[Multiple self-healing squamous epithelioma, or Ferguson-Smith disease: demonstration of mutations in the TGFI^-receptor]. ( 22078045 )
2011
6
Multiple self-healing squamous epithelioma is caused by a disease- specific spectrum of mutations in TGFBR1. ( 21358634 )
2011
7
Severe exacerbation of multiple self-healing squamous epithelioma (Ferguson-Smith disease) with radiotherapy, which was successfully treated with acitretin. ( 19874360 )
2010
8
Multiple self-healing squamous epithelioma of Ferguson-Smith: observations in a Danish family covering four generations. ( 18176752 )
2008
9
Multiple self-healing squamous epithelioma in different ethnic groups: more than a founder mutation disorder? ( 17554363 )
2007
10
The elusive multiple self-healing squamous epithelioma (MSSE) gene: further mapping, analysis of candidates, and loss of heterozygosity. ( 16170343 )
2006
11
A YAC-based transcript map of human chromosome 9q22.1-q22.3 encompassing the loci for hereditary sensory neuropathy type I and multiple self-healing squamous epithelioma. ( 9722951 )
1998
12
Desmoglein in multiple self-healing squamous epithelioma of Ferguson-Smith--comparison of staining patterns with actinic keratoacanthoma and squamous cell carcinoma of the skin. ( 9705163 )
1998
13
Mapping the multiple self-healing squamous epithelioma (MSSE) gene and investigation of xeroderma pigmentosum group A (XPA) and PATCHED (PTCH) as candidate genes. ( 9439661 )
1997
14
Multiple self-healing squamous epithelioma. ( 5173258 )
1971

Variations for Multiple Self-Healing Squamous Epithelioma

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

75
# Symbol AA change Variation ID SNP ID
1 TGFBR1 p.Cys41Tyr VAR_065826
2 TGFBR1 p.Asn45Ser VAR_065827 rs387906696
3 TGFBR1 p.Gly52Arg VAR_065828 rs587776865
4 TGFBR1 p.Pro83Leu VAR_065829 rs757374917

ClinVar genetic disease variations for Multiple Self-Healing Squamous Epithelioma:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TGFBR1 NM_004612.3(TGFBR1): c.154G> C (p.Gly52Arg) single nucleotide variant risk factor rs587776865 GRCh37 Chromosome 9, 101891193: 101891193
2 TGFBR1 NM_004612.3(TGFBR1): c.154G> C (p.Gly52Arg) single nucleotide variant risk factor rs587776865 GRCh38 Chromosome 9, 99128911: 99128911
3 TGFBR1 NM_004612.3(TGFBR1): c.806-2A> C single nucleotide variant risk factor rs587776866 GRCh37 Chromosome 9, 101904816: 101904816
4 TGFBR1 NM_004612.3(TGFBR1): c.806-2A> C single nucleotide variant risk factor rs587776866 GRCh38 Chromosome 9, 99142534: 99142534
5 TGFBR1 NM_004612.3(TGFBR1): c.1240C> T (p.Arg414Ter) single nucleotide variant Pathogenic rs387906697 GRCh37 Chromosome 9, 101908876: 101908876
6 TGFBR1 NM_004612.3(TGFBR1): c.1240C> T (p.Arg414Ter) single nucleotide variant Pathogenic rs387906697 GRCh38 Chromosome 9, 99146594: 99146594

Expression for Multiple Self-Healing Squamous Epithelioma

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

Pathways for Multiple Self-Healing Squamous Epithelioma

Pathways related to Multiple Self-Healing Squamous Epithelioma according to GeneCards Suite gene sharing:

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.68 FANCC TGFBR1 TGFBR2
2 11.48 TGFBR1 TGFBR2
3
Show member pathways
11.43 TGFBR1 TGFBR2
4 11.39 TGFBR1 TGFBR2
5 11.38 TGFBR1 TGFBR2
6
Show member pathways
11.36 TGFBR1 TGFBR2
7 11.24 TGFBR1 TGFBR2
8 11.16 TGFBR1 TGFBR2
9 11.12 TGFBR1 TGFBR2
10
Show member pathways
10.95 TGFBR1 TGFBR2
11 10.88 TGFBR1 TGFBR2
12 10.88 TGFBR1 TGFBR2 XPA
13
Show member pathways
10.8 TGFBR1 TGFBR2
14 10.74 TGFBR1 TGFBR2
15 10.55 TGFBR1 TGFBR2
16 10.28 TGFBR1 TGFBR2

GO Terms for Multiple Self-Healing Squamous Epithelioma

Cellular components related to Multiple Self-Healing Squamous Epithelioma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 caveola GO:0005901 8.96 PTCH1 TGFBR2
2 transforming growth factor beta receptor complex GO:0070022 8.62 TGFBR1 TGFBR2

Biological processes related to Multiple Self-Healing Squamous Epithelioma according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 roof of mouth development GO:0060021 9.58 TGFBR1 TGFBR2
2 in utero embryonic development GO:0001701 9.58 PTCH1 TGFBR1 TGFBR2
3 signal transduction by protein phosphorylation GO:0023014 9.57 TGFBR1 TGFBR2
4 peptidyl-threonine phosphorylation GO:0018107 9.56 TGFBR1 TGFBR2
5 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.55 TGFBR1 TGFBR2
6 response to mechanical stimulus GO:0009612 9.54 PTCH1 TGFBR2
7 smoothened signaling pathway GO:0007224 9.52 PTCH1 TGFBR2
8 nucleotide-excision repair GO:0006289 9.51 FANCC XPA
9 positive regulation of epithelial to mesenchymal transition GO:0010718 9.49 TGFBR1 TGFBR2
10 lens development in camera-type eye GO:0002088 9.48 TGFBR1 TGFBR2
11 ventricular septum morphogenesis GO:0060412 9.46 TGFBR1 TGFBR2
12 embryonic cranial skeleton morphogenesis GO:0048701 9.43 TGFBR1 TGFBR2
13 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.37 TGFBR1 TGFBR2
14 pharyngeal system development GO:0060037 9.32 PTCH1 TGFBR1
15 pathway-restricted SMAD protein phosphorylation GO:0060389 9.26 TGFBR1 TGFBR2
16 response to cholesterol GO:0070723 9.16 TGFBR1 TGFBR2
17 positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation GO:1905007 8.96 TGFBR1 TGFBR2
18 regulation of growth GO:0040008 8.8 PTCH1 TGFBR1 TGFBR2

Molecular functions related to Multiple Self-Healing Squamous Epithelioma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 SMAD binding GO:0046332 9.32 TGFBR1 TGFBR2
2 transforming growth factor beta binding GO:0050431 9.26 TGFBR1 TGFBR2
3 obsolete signal transducer, downstream of receptor, with serine/threonine kinase activity GO:0004702 9.16 TGFBR1 TGFBR2
4 transmembrane receptor protein serine/threonine kinase activity GO:0004675 8.96 TGFBR1 TGFBR2
5 transforming growth factor beta-activated receptor activity GO:0005024 8.62 TGFBR1 TGFBR2

Sources for Multiple Self-Healing Squamous Epithelioma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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