Solitary Mastocytoma of the Skin disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Solitary Mastocytoma of the Skin

MalaCards integrated aliases for Solitary Mastocytoma of the Skin:

Name: Solitary Mastocytoma of the Skin ¹¹

Cutaneous Solitary Mastocytoma ¹¹ ¹⁴

Solitary Mastocytoma ¹¹ ⁷⁵

Skin Mastocytoma ¹⁶ ⁷¹

Solitary Mastocytoma of Skin ¹¹

Mastocytoma, Skin ⁴³

Classifications:

MalaCards categories:
Global: Cancer diseases
Anatomical: Blood diseases Skin diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹¹ DOID:3666

MeSH ⁴³ D054705

NCIt ⁴⁹ C7138

SNOMED-CT ⁶⁸ 239147000

EFO ¹⁶ EFO_1001844

UMLS ⁷¹ C0343115

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Summaries for Solitary Mastocytoma of the Skin

Disease Ontology: ¹¹ A mast cell neoplasm that is characterized by collections of mast cells with a single or multiple (usually five or fewer individual) orange-brown to red-brown plaques or nodules ranging from 0.5 to 3.5 cm in diameter.

MalaCards based summary: Solitary Mastocytoma of the Skin, also known as cutaneous solitary mastocytoma, is related to mast cell neoplasm and mastocytosis, cutaneous. An important gene associated with Solitary Mastocytoma of the Skin is SERPINA3 (Serpin Family A Member 3), and among its related pathways/superpathways are NF-kappaB Signaling and Hematopoietic Stem Cells and Lineage-specific Markers. Affiliated tissues include skin and smooth muscle, and related phenotypes are immune system and hematopoietic system

Wikipedia: ⁷⁵ Solitary mastocytoma may be present at birth or may develop during the first weeks of life, originating... more...

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Related Diseases for Solitary Mastocytoma of the Skin

Diseases related to Solitary Mastocytoma of the Skin via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 90)

#	Related Disease	Score	Top Affiliating Genes
1	mast cell neoplasm	30.6	SERPINA3 KITLG KIT CMA1 CD2
2	mastocytosis, cutaneous	30.4	TPSAB1 KITLG KIT CMA1 CD2
3	urticaria	30.4	KIT ENPP3 CMA1
4	mastocytosis	29.7	TPSAB1 KITLG KIT ENPP3 CD2
5	systemic mastocytosis	29.6	TPSAB1 KITLG KIT CD2
6	gastrointestinal stromal tumor	29.4	SERPINA3 KITLG KIT CLEC11A
7	cutaneous mastocytoma	11.5
8	epithelioid leiomyosarcoma	10.2	SERPINA3 KIT
9	liver sarcoma	10.2	SERPINA3 KIT
10	heart sarcoma	10.2	SERPINA3 KIT
11	breast malignant phyllodes tumor	10.2	SERPINA3 KIT
12	heart cancer	10.2	SERPINA3 KIT
13	tenosynovial giant cell tumor	10.2	SERPINA3 KIT
14	malignant spindle cell melanoma	10.2	SERPINA3 KIT
15	deafness, autosomal dominant 69	10.2	KITLG KIT
16	pleomorphic liposarcoma	10.2	SERPINA3 KIT
17	histiocytic and dendritic cell cancer	10.2	SERPINA3 KIT
18	dysgerminoma	10.2	KITLG KIT
19	perivascular tumor	10.2	SERPINA3 KIT
20	dysgerminoma of ovary	10.2	KITLG KIT
21	salivary gland adenoid cystic carcinoma	10.2	SERPINA3 KIT
22	amelanotic melanoma	10.2	SERPINA3 KIT
23	hemangiopericytoma, malignant	10.2	SERPINA3 KIT
24	hyperpigmentation with or without hypopigmentation, familial progressive	10.2	KITLG KIT
25	brain germinoma	10.2	KITLG KIT
26	pseudosarcomatous fibromatosis	10.2	SERPINA3 KIT
27	dowling-degos disease 1	10.2	KITLG KIT
28	laryngeal small cell carcinoma	10.2	KITLG KIT
29	thoracic benign neoplasm	10.2	SERPINA3 KIT
30	cutaneous fibrous histiocytoma	10.2	SERPINA3 KITLG
31	lentigines	10.2	KITLG KIT
32	mixed cell type cancer	10.2	SERPINA3 KIT
33	smooth muscle tumor	10.2	SERPINA3 KIT
34	mesenchymal cell neoplasm	10.2	SERPINA3 KIT
35	well-differentiated liposarcoma	10.2	SERPINA3 KIT
36	connective tissue benign neoplasm	10.1	SERPINA3 KIT
37	plexiform neurofibroma	10.1	KITLG KIT
38	testicular germ cell tumor	10.1	KITLG KIT
39	tonsil cancer	10.1	SERPINA3 KIT
40	spindle cell sarcoma	10.1	SERPINA3 KIT
41	lipomatosis, multiple	10.1	SERPINA3 KIT
42	lethal midline granuloma	10.1	SERPINA3 CD2
43	cholinergic urticaria	10.1	SERPINA3 ENPP3
44	salivary gland disease	10.1	SERPINA3 KIT
45	myxofibrosarcoma	10.1	SERPINA3 KIT
46	acute erythroid leukemia	10.1	KITLG KIT
47	acute basophilic leukemia	10.1	KIT ENPP3
48	co-trimoxazole allergy	10.1	KIT ENPP3
49	vascular cancer	10.1	SERPINA3 KIT
50	cephalosporin allergy	10.1	ENPP3 CMA1

Graphical network of the top 20 diseases related to Solitary Mastocytoma of the Skin:

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Symptoms & Phenotypes for Solitary Mastocytoma of the Skin

MGI Mouse Phenotypes related to Solitary Mastocytoma of the Skin:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	immune system	MP:0005387	9.5	CMA1 ENPP3 KIT KITLG SERPINA3 TPSAB1
2	hematopoietic system	MP:0005397	9.23	CLEC11A CMA1 ENPP3 KIT KITLG SERPINA3

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Drugs & Therapeutics for Solitary Mastocytoma of the Skin

Search Clinical Trials, NIH Clinical Center for Solitary Mastocytoma of the Skin

Cochrane evidence based reviews: mastocytoma, skin

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Genetic Tests for Solitary Mastocytoma of the Skin

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Anatomical Context for Solitary Mastocytoma of the Skin

Organs/tissues related to Solitary Mastocytoma of the Skin:

MalaCards : Skin, Smooth Muscle

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Publications for Solitary Mastocytoma of the Skin

Articles related to Solitary Mastocytoma of the Skin:

(show top 50) (show all 87)

#	Title	Authors	PMID	Year
1	Pediatric Mastocytosis: An Update. ⁶²	Giona F	34804443	2021
2	Reflectance confocal microscopy of solitary mastocytoma and correlation with horizontal histopathological sections. ⁶²	Verzi AE...Micali G	32585731	2021
3	Dermoscopic findings of a congenital smooth muscle hamartoma in an infant. ⁶²	Chauhan P...Shirazi N	31840858	2020
4	Perioperative anaphylaxis in a patient with a solitary mastocytoma. ⁶²	Requena Lopez S...Torrelo A	30854701	2019
5	Solitary mastocytoma presenting at birth. ⁶²	Ha NH...Park DH	29716178	2018
6	Solitary mastocytoma in the eyelid of an adult. ⁶²	McKinnon EL...Proia AD	29468227	2018
7	Rare cause of recurrent urticaria in childhood and its unusual presentation: Solitary mastocytoma on vulva. ⁶²	Arik Yilmaz E...Soyer O	27206703	2017
8	Solitary Mastocytoma of the Eyelid in an Adult Patient With Prolidase Deficiency. ⁶²	Ma SP...Hardy TG	25603535	2017
9	[Diffuse cutaneous mastocytosis of an infant: A case report]. ⁶²	Zaouri H...Hassam B	27670724	2016
10	Solitary mastocytoma presenting in an adult: report and literature review of adult-onset solitary cutaneous mastocytoma with recommendations for evaluation and treatment. ⁶²	Cohen PR	27648381	2016
11	Cutaneous form of maculopapular mastocytosis in a foal. ⁶²	Junginger J...Hewicker-Trautwein M	27109586	2016
12	Solitary mastocytoma with positive Darier's sign. ⁶²	Nair B...Aggarwal I	27057508	2016
13	Cutaneous manifestations in patients with mastocytosis: Consensus report of the European Competence Network on Mastocytosis; the American Academy of Allergy, Asthma & Immunology; and the European Academy of Allergology and Clinical Immunology. ⁶²	Hartmann K...Valent P	26476479	2016
14	Large maculopapular cutaneous lesions are associated with favorable outcome in childhood-onset mastocytosis. ⁶²	Wiechers T...Hartmann K	26152315	2015
15	Topical corticosteroids versus "wait and see" in the management of solitary mastocytoma in pediatric patients: a long-term follow-up. ⁶²	Patrizi A...Virdi A	25471152	2015
16	Solitary mastocytoma mimicking granuloma faciale. ⁶²	Bourji L...Abbas O	25257118	2014
17	Solitary mastocytoma of the vulva. ⁶²	Velusamy S...Mathew CF	24800094	2014
18	Case Report: Solitary mastocytoma treated successfully with topical tacrolimus. ⁶²	Sukesh MS...Ghate S	25210620	2014
19	Identification of KIT activating mutations in paediatric solitary mastocytoma. ⁶²	Ma D...Bellizzi AM	24128084	2014
20	Pediatric Mastocytosis: A Review of the Literature. ⁶²	Frieri M...Quershi M	24380017	2013
21	Solitary mastocytoma of the eyelid. ⁶²	Naysan J...Kristal L	23871296	2013
22	Solitary mastocytoma with associated pseudocarcinomatous hyperplasia. ⁶²	Ghosn S...Abbas O	23252514	2013
23	Death from mast cell leukemia: a young patient with longstanding cutaneous mastocytosis evolving into fatal mast cell leukemia. ⁶²	Chantorn R...Shwayder T	22329485	2012
24	Dermacase: Can you identify this condition? Solitary mastocytoma. ⁶²	Abdullah L...Abbas O	22977914	2012
25	Malignant transformation of mastocytoma developed on skin mastocytosis into cutaneous mast cell sarcoma. ⁶²	Auquit-Auckbur I...Courville P	22498828	2012
26	Solitary mastocytoma in an adult with an unusual clinical presentation. ⁶²	Khan K...Ivan D	21839341	2011
27	Pathology quiz case 1. Pediatric solitary mastocytoma. ⁶²	Nichols BG...Kacmarynski DS	21768423	2011
28	Solitary mastocytoma with histologic features of eosinophilic cellulites. ⁶²	Zeng YP...Ma DL	21540136	2011
29	[Cutaneous mastocytoma: A brief literature review and report of two cases]. ⁶²	Perez-Elizondo AD...Del Pino-Rojas GT	21967973	2011
30	A solitary mastocytoma presenting with urticaria and angioedema in a 14-year-old boy. ⁶²	Krishnan KR...Ownby DR	21708063	2010
31	A 3-month-old with a blistering plaque. ⁶²	Alsharqi A...Shukla R	20875331	2010
32	A rare presentation of solitary mastocytoma in the palm of an infant. ⁶²	Janakiramanan N...Dowling GJ	19502121	2010
33	Scabies presenting as solitary mastocytoma-like eruption in an infant. ⁶²	Salces IG...Sanchez M	19689539	2009
34	Solitary mastocytoma occurring at a site of trauma. ⁶²	Tuxen AJ...Orchard D	19397569	2009
35	Most common clinical presentations of cutaneous mastocytosis. ⁶²	Bulat V...Pusic J	19623875	2009
36	Solitary mastocytoma: tooth eruption as triggering factor. ⁶²	de Giorgi V...Lotti T	19126015	2008
37	Cutaneous mastocytosis: a review focusing on the pediatric population. ⁶²	Briley LD...Phillips CM	18502981	2008
38	Adult onset, hypopigmented solitary mastocytoma: report of two cases. ⁶²	Pandhi D...Aggarwal S	18187823	2008
39	Flushing and increase of serum tryptase after mechanical irritation of a solitary mastocytoma. ⁶²	Bussmann C...Novak N	17540642	2007
40	A 6-month old with total body flushing and a macular-papular lesion. ⁶²	Conrad H...Burbulys D	17505276	2007
41	Midline cutaneous lumbosacral lesions: not always a sign of occult spinal dysraphism. ⁶²	Martinez-Lage JF...Maeztu C	16453111	2006
42	Congenital smooth muscle hamartoma: the importance of differentiation from melanocytic nevi. ⁶²	Schmidt CS...Bentz ML	16192884	2005
43	Solitary mastocytoma. ⁶²	Thappa DM...Jeevankumar B	15876605	2005
44	What is your diagnosis? Solitary mastocytoma. ⁶²	Paul AY...Benson PM	15551714	2004
45	A red-brown plaque on the nape. Solitary mastocytoma. ⁶²	Chang IJ...Ng KY	15492195	2004
46	Solitary mastocytoma successfully treated with a moderate potency topical steroid. ⁶²	Bukhari IA	15176167	2004
47	Electron microscopic study in a case of solitary mastocytoma. ⁶²	Palungwachira P...Palungwachira P	15222530	2004
48	Flushing due to solitary cutaneous mastocytoma can be prevented by hydrocolloid dressings. ⁶²	Yung A	15165209	2004
49	Solitary mastocytoma of the vulva: report of a case. ⁶²	Shuangshoti S...Sukpanichnant S	14501824	2003
50	Presentation of telangiectasia macularis eruptiva perstans as a long-standing solitary plaque associated with renal carcinoma. ⁶²	Pascual JC...Betlloch I	14973646	2003

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Genes for Solitary Mastocytoma of the Skin

Genes related to Solitary Mastocytoma of the Skin (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	SERPINA3	Serpin Family A Member 3	Protein Coding	9.03	DISEASES inferred ¹⁴ ¹⁴
2	KIT	KIT Proto-Oncogene, Receptor Tyrosine Kinase	Protein Coding	6.52	DISEASES inferred ¹⁴
3	KITLG	KIT Ligand	Protein Coding	5.76	DISEASES inferred ¹⁴
4	CMA1	Chymase 1	Protein Coding	5.66	DISEASES inferred ¹⁴
5	TPSD1	Tryptase Delta 1	Protein Coding	5.34	DISEASES inferred ¹⁴
6	CD2	CD2 Molecule	Protein Coding	5.3	DISEASES inferred ¹⁴
7	TPSAB1	Tryptase Alpha/Beta 1	Protein Coding	4.93	DISEASES inferred ¹⁴
8	CLEC11A	C-Type Lectin Domain Containing 11A	Protein Coding	4.71	DISEASES inferred ¹⁴
9	ENPP3	Ectonucleotide Pyrophosphatase/Phosphodiesterase 3	Protein Coding	4.5	DISEASES inferred ¹⁴

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Variations for Solitary Mastocytoma of the Skin

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Expression for Solitary Mastocytoma of the Skin

Search GEO for disease gene expression data for Solitary Mastocytoma of the Skin.

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Pathways for Solitary Mastocytoma of the Skin

Pathways related to Solitary Mastocytoma of the Skin according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	NF-kappaB Signaling ³	11.44	KITLG KIT ENPP3 CD2
2	Hematopoietic Stem Cells and Lineage-specific Markers ⁶⁵	11.4	KITLG KIT CD2
3	Signaling by SCF-KIT ⁶⁶ Show member pathways Regulation of KIT signaling ⁶⁶ Signaling by KIT in disease ⁶⁶ Signaling by phosphorylated juxtamembrane, extracellular and kinase domain KIT mutants ⁶⁶	11.13	KITLG KIT CMA1
4	Pluripotent stem cell differentiation pathway ⁷⁴	11.09	KITLG KIT
5	Melanocyte Development and Pigmentation ⁶⁴	10.98	KITLG KIT
6	Neovascularisation processes ⁷⁴	10.85	KITLG KIT
7	G-protein signaling_Rap2B regulation pathway ²²	10.46	KITLG KIT CLEC11A CD2

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GO Terms for Solitary Mastocytoma of the Skin

Cellular components related to Solitary Mastocytoma of the Skin according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	extracellular space	GO:0005615	9.8	TPSD1 TPSAB1 SERPINA3 KITLG KIT CMA1
2	extracellular region	GO:0005576	9.47	TPSD1 TPSAB1 SERPINA3 KITLG ENPP3 CMA1

Biological processes related to Solitary Mastocytoma of the Skin according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	ectopic germ cell programmed cell death	GO:0035234	9.62	KITLG KIT
2	embryonic hemopoiesis	GO:0035162	9.56	KITLG KIT
3	positive regulation of mast cell proliferation	GO:0070668	9.46	KITLG KIT
4	mast cell proliferation	GO:0070662	9.26	KITLG KIT
5	melanocyte migration	GO:0097324	8.92	KITLG KIT

Molecular functions related to Solitary Mastocytoma of the Skin according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	serine-type endopeptidase activity	GO:0004252	9.43	TPSD1 TPSAB1 CMA1
2	serine-type peptidase activity	GO:0008236	9.1	TPSD1 TPSAB1 CMA1

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Sources for Solitary Mastocytoma of the Skin

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: SLT017 MIFTS: 30	Solitary Mastocytoma of the Skin Categories: Blood diseases, Cancer diseases, Skin diseases	Data Licensing For inquiries, contact: [email protected]
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