Multiple Self Healing Squamous Epithelioma malady

MalaCards: Multiple Self Healing Squamous Epithelioma, also known as ferguson-smith type epithelioma, is related to keratoacanthoma and xeroderma pigmentosum, group a. An important gene associated with Multiple Self Healing Squamous Epithelioma is MSSE (multiple self-healing squamous epithelioma), and among its related pathways are Downregulation of TGF-beta receptor signaling and IL-4 Signaling and its Primary Biological Effects in Different Immune Cell Types. The compound toxin a have been mentioned in the context of this disorder. Affiliated tissues include skin, and related mouse phenotypes are tumorigenesis and skeleton.

multiple self healing squamous epithelioma 30 ferguson-smith type epithelioma 30

msse 30 ess1 30

Diseases related to multiple self healing squamous epithelioma by text searches and GeneDecks gene sharing:

(show top 50)    (show all 115)

id	Related Disease	Score	Top Affiliating Genes
1	keratoacanthoma	31.5	DSG1, DSG3
2	xeroderma pigmentosum, group a	31.0	PTCH1, FANCC, MSSE, XPA
3	xeroderma pigmentosum	30.9	PTCH1, FANCC, MSSE, XPA
4	basal cell carcinoma	29.0	TGFBR2, PTCH1, XPA
5	skin cancer	28.5	XPA, MSSE, FANCC, PTCH1
6	squamous cell carcinoma	28.2	TGFBR2, TGFBR1, DSG3, DSG1, PTCH1, FANCC
7	carcinoma	27.6	TGFBR2, TGFBR1, DSG3, DSG1, PTCH1, FANCC
8	lung adenocarcinoma	25.3	XPA, TGFBR1, TGFBR2
9	melanoma	24.9	TGFBR2, DSG1, PTCH1, FANCC, MSSE, XPA
10	cervicitis	23.5	FANCC, PTCH1, DSG3, TGFBR1, TGFBR2
11	subcorneal pustular dermatosis	13.1	DSG3, DSG1
12	bullous skin disease	13.1	DSG1, DSG3
13	ritter's disease	13.1	DSG3, DSG1
14	follicular dendritic cell sarcoma	13.1	DSG1, DSG3
15	hailey-hailey disease	13.1	DSG1, DSG3
16	epidermolysis bullosa acquisita	13.1	DSG3, DSG1
17	dendritic cell sarcoma	13.1	DSG3, DSG1
18	impetigo	13.0	DSG1, DSG3
19	pemphigus foliaceus	12.8	DSG1, DSG3
20	bullous pemphigoid	12.6	DSG3, DSG1
21	marfan-like connective tissue disorder	12.6	TGFBR1, TGFBR2
22	thoracic aortic aneurysms and aortic dissections	12.6	TGFBR2, TGFBR1
23	familial thoracic aortic aneurysm and dissection	12.5	TGFBR2, TGFBR1
24	kabuki syndrome	12.5	TGFBR2, TGFBR1
25	eisenmenger syndrome	12.5	TGFBR2, TGFBR1
26	craniofacial abnormalities	12.5	TGFBR2, TGFBR1
27	diabetic foot ulcers	12.5	TGFBR1, TGFBR2
28	loeys-dietz syndrome	12.5	TGFBR1, TGFBR2
29	skin benign neoplasm	12.4	XPA, PTCH1
30	thoracic aortic aneurysm	12.4	TGFBR1, TGFBR2
31	hereditary hemorrhagic telangiectasia	12.4	TGFBR2, TGFBR1
32	nevoid basal cell carcinoma syndrome	12.3	XPA, FANCC, PTCH1
33	marfan syndrome	12.3	TGFBR1, TGFBR2
34	pandas	12.3	XPA, FANCC, PTCH1
35	chagas disease	12.0	TGFBR2, TGFBR1, DSG1
36	squamous cell carcinoma of the head and neck	12.0	FANCC, TGFBR1, TGFBR2
37	sporadic breast cancer	11.9	TGFBR2, TGFBR1, FANCC
38	fanconi's anemia	11.9	XPA, FANCC, PTCH1, DSG1
39	esophageal cancer	11.9	TGFBR2, DSG1, PTCH1, XPA
40	lichen planus	11.8	TGFBR2, TGFBR1, DSG3, DSG1
41	esophageal squamous cell carcinoma	11.8	XPA, PTCH1, DSG1, TGFBR2
42	mayer-rokitansky-kuster-hauser syndrome	11.6	FANCC, PTCH1, DSG1, TGFBR1
43	rectal cloacogenic carcinoma	11.5	PTCH1, TGFBR1, TGFBR2
44	lung carcinoma	11.5	TGFBR2, TGFBR1, DSG1, XPA
45	nasopharyngitis	11.4	TGFBR2, TGFBR1, DSG3, PTCH1
46	oral squamous cell carcinoma	11.3	TGFBR2, TGFBR1, DSG3, DSG1, FANCC
47	esophagitis	10.9	TGFBR2, TGFBR1, DSG1, PTCH1, XPA
48	breast carcinoma	10.9	TGFBR2, TGFBR1, PTCH1, FANCC, XPA
49	pancreatic cancer	10.6	TGFBR2, TGFBR1, DSG1, PTCH1, FANCC, XPA
50	pancreatitis	10.3	TGFBR2, TGFBR1, DSG1, PTCH1, FANCC, XPA

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to multiple self healing squamous epithelioma:

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MGI Mouse Phenotypes related to multiple self healing squamous epithelioma:

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id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	tumorigenesis	MP:0002006	7.8	TGFBR1, PTCH1, XPA, TGFBR2
2	skeleton phenotype	MP:0005390	7.6	XPA, PTCH1, TGFBR1, TGFBR2, FANCC
3	hematopoietic system phenotype	MP:0005397	7.2	XPA, TGFBR2, TGFBR1, DSG3, PTCH1, FANCC
4	cellular phenotype	MP:0005384	7.2	TGFBR2, TGFBR1, DSG3, PTCH1, XPA, FANCC
5	immune system phenotype	MP:0005387	7.1	TGFBR2, DSG3, PTCH1, FANCC, XPA, TGFBR1

Articles related to multiple self healing squamous epithelioma:

id	Title	Authors	Year	Affiliating Genes
1	Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1. (21358634)	Goudie D.R.... Lane E.B.	2011	TGFBR2, TGFBR1
2	The elusive multiple self-healing squamous epithelioma (MSSE) gene: further mapping, analysis of candidates, and loss of heterozygosity. (16170343)	Bose S.... Richards F.M.	2006	FANCC, MSSE
3	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)	Krunic A.L.... Clark R.E.	1998	DSG1, DSG3
4	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)	Blair I.P.... Nicholson G.A.	1998	ZNF169
5	Mapping the multiple self-healing squamous epithelioma (MSSE) gene and investigation of xeroderma pigmentosum group A (XPA) and PATCHED (PTCH) as candidate genes. (9439661)	Richards F.M.... Ferguson-Smith M.A.	1997	XPA, PTCH1, MSSE

Genes related to multiple self healing squamous epithelioma according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	MSSE	multiple self-healing squamous epithelioma	11.1	Aliases & Descriptions, Publications
2	ZNF169	zinc finger protein 169	11.1	Publications
3	XPA	xeroderma pigmentosum, complementation group A	11.1	Publications
4	DSG1	desmoglein 1	11.1	Publications
5	DSG3	desmoglein 3	11.1	Publications
6	FANCC	Fanconi anemia, complementation group C	11.1	Publications
7	PTCH1	patched 1	11.1	Publications
8	TGFBR1	transforming growth factor, beta receptor 1	11.1	Publications
9	TGFBR2	transforming growth factor, beta receptor II (70/80kDa)	11.1	Publications

Pathways related to multiple self healing squamous epithelioma according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Downregulation of TGF-beta receptor signaling38	9.3	TGFBR1, TGFBR2
2	IL-4 Signaling and its Primary Biological Effects in Different Immune Cell Types37	9.3	TGFBR1, TGFBR2
3	TOB in T-Cell Signaling36	9.3	TGFBR1, TGFBR2
4	NTHi-Induced Signaling36	9.2	TGFBR1, TGFBR2
5	IL-2 Gene Expression in Activated and Quiescent T-Cells36	9.2	TGFBR1, TGFBR2
6	IL-21 Signaling and its Primary Biological Effects in Different Immune Cell Types37	9.1	TGFBR1, TGFBR2
7	Cell adhesion Plasmin signaling10	9.1	TGFBR2, TGFBR1
8	TGF-beta/Smad Signaling3	9.0	TGFBR2, TGFBR1
9	Cell adhesion_Plasmin signaling41	8.8	TGFBR2, TGFBR1

Compounds related to multiple self healing squamous epithelioma according to GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	toxin a32	9.6	DSG1, DSG3

Cellular components related to multiple self healing squamous epithelioma according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	desmosome	GO:030057	9.3	DSG1, DSG3
2	receptor complex	GO:043235	9.1	TGFBR1, TGFBR2
3	transforming growth factor beta receptor homodimeric complex	GO:070022	9.0	TGFBR1, TGFBR2

Biological processes related to multiple self healing squamous epithelioma according to GeneDecks:

(show all 8)

id	Name	GO ID	Score	Top Affiliating Genes
1	cellular component disassembly involved in apoptotic process	GO:006921	9.6	DSG3, DSG1
2	response to cholesterol	GO:070723	9.3	TGFBR2, TGFBR1
3	pathway-restricted SMAD protein phosphorylation	GO:060389	9.3	TGFBR2, TGFBR1
4	embryonic cranial skeleton morphogenesis	GO:048701	9.2	TGFBR2, TGFBR1
5	pharyngeal system development	GO:060037	9.1	TGFBR1, PTCH1
6	peptidyl-threonine phosphorylation	GO:018107	9.1	TGFBR2, TGFBR1
7	smoothened signaling pathway	GO:007224	9.0	TGFBR2, PTCH1
8	apoptotic process	GO:006915	8.2	TGFBR2, TGFBR1, DSG3, DSG1

Molecular functions related to multiple self healing squamous epithelioma according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	transmembrane receptor protein serine/threonine kinase activity	GO:004675	9.1	TGFBR1, TGFBR2
2	SMAD binding	GO:046332	9.1	TGFBR1, TGFBR2
3	transforming growth factor beta binding	GO:050431	9.0	TGFBR1, TGFBR2
4	transforming growth factor beta-activated receptor activity	GO:005024	8.8	TGFBR1, TGFBR2