MSSE
MCID: MLT122
MIFTS: 25

Multiple Self-Healing Squamous Epithelioma, Susceptiblity to (MSSE) malady

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

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

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

Name: Multiple Self-Healing Squamous Epithelioma, Susceptiblity to 54 13
Multiple Self-Healing Squamous Epithelioma 24 56 66 29 69
Msse 50 56 66
Self-Healing Squamous Epithelioma Type 1 56 66
Ferguson-Smith Type Epithelioma 50 66
Ferguson-Smith Disease 56 66
Familial Primary Self-Healing Squamous Epithelioma of the Skin, Ferguson-Smith Type 56
Multiple Self-Healing Squamous Epithelioma, Susceptibility to 54
Ferguson-Smith Type Epithelioma, Ess1, Formerly 24
Multiple Keratoacanthoma, Ferguson-Smith Type 56
Multiple Self Healing Squamous Epithelioma 50
Ess1 66

Characteristics:

Orphanet epidemiological data:

56
multiple self-healing squamous epithelioma
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood,Elderly; Age of death: normal life expectancy;

HPO:

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


Classifications:



External Ids:

OMIM 54 132800
Orphanet 56 ORPHA65748
ICD10 via Orphanet 34 C44.6 C44.7 C44.3
MedGen 40 C0546476
MeSH 42 D007636

Summaries for Multiple Self-Healing Squamous Epithelioma, Susceptiblity to

OMIM : 54 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 neoplasm and 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 : 66 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

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

id Related Disease Score Top Affiliating Genes
1 familial keratoacanthoma 11.3
2 xeroderma pigmentosum, group a 10.0
3 hereditary sensory neuropathy 10.0
4 squamous cell carcinoma 10.0
5 keratoacanthoma 10.0
6 neuropathy 10.0

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



Diseases related to Multiple Self-Healing Squamous Epithelioma, Susceptiblity to

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

Symptoms by clinical synopsis from OMIM:

132800

Clinical features from OMIM:

132800

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

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

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

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

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

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

id Genetic test Affiliating Genes
1 Multiple Self Healing Squamous Epithelioma 29
2 Multiple Self-Healing Squamous Epithelioma 24 TGFBR1

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

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

39
Skin, Eye

Publications for Multiple Self-Healing Squamous Epithelioma, Susceptiblity to

Variations for Multiple Self-Healing Squamous Epithelioma, Susceptiblity to

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

66
id 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, Susceptiblity to:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 TGFBR1 NM_004612.3(TGFBR1): c.134A> G (p.Asn45Ser) single nucleotide variant risk factor rs387906696 GRCh37 Chromosome 9, 101891173: 101891173
2 TGFBR1 NM_004612.3(TGFBR1): c.154G> C (p.Gly52Arg) single nucleotide variant risk factor rs587776865 GRCh37 Chromosome 9, 101891193: 101891193
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.1240C> T (p.Arg414Ter) single nucleotide variant Pathogenic,risk factor rs387906697 GRCh37 Chromosome 9, 101908876: 101908876

Expression for Multiple Self-Healing Squamous Epithelioma, Susceptiblity to

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

Pathways for Multiple Self-Healing Squamous Epithelioma, Susceptiblity to

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

Sources for Multiple Self-Healing Squamous Epithelioma, Susceptiblity to

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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