MCID: CTN001
MIFTS: 26

Cutaneous Solitary Mastocytoma

Categories: Blood diseases, Cancer diseases, Skin diseases

Aliases & Classifications for Cutaneous Solitary Mastocytoma

MalaCards integrated aliases for Cutaneous Solitary Mastocytoma:

Name: Cutaneous Solitary Mastocytoma 12 15
Solitary Mastocytoma of Skin 12
Solitary Mastocytoma 12
Skin Mastocytoma 72

Classifications:



External Ids:

Disease Ontology 12 DOID:3666
UMLS 72 C0343115

Summaries for Cutaneous Solitary Mastocytoma

MalaCards based summary : Cutaneous Solitary Mastocytoma, also known as solitary mastocytoma of skin, is related to extracutaneous mastocytoma and mast cell neoplasm. An important gene associated with Cutaneous Solitary Mastocytoma is SERPINA3 (Serpin Family A Member 3), and among its related pathways/superpathways are Cytokine Signaling in Immune system and Gastric cancer. Affiliated tissues include skin, and related phenotypes are hematopoietic system and growth/size/body region

Related Diseases for Cutaneous Solitary Mastocytoma

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

(show top 50) (show all 55)
# Related Disease Score Top Affiliating Genes
1 extracutaneous mastocytoma 32.1 KIT CD2
2 mast cell neoplasm 31.3 KITLG KIT CMA1 CD2
3 mastocytosis 31.2 KITLG KIT CD2
4 systemic mastocytosis 30.7 KITLG KIT CD2
5 mastocytosis, cutaneous 30.4 KITLG KIT CMA1 CD2
6 dowling-degos disease 1 30.3 POMC KITLG KIT
7 cutaneous mastocytoma 12.0
8 acinar cell cystadenocarcinoma 10.5 SERPINA3 SERPINA1
9 inflammatory mfh 10.5 SERPINA3 SERPINA1
10 sm-ahnmd 10.5 KIT CD2
11 aggressive systemic mastocytosis 10.5 KITLG KIT
12 mast-cell leukemia 10.4 KITLG KIT
13 gastric squamous cell carcinoma 10.4 SERPINA3 KITLG
14 embryonal sarcoma 10.4 SERPINA3 KIT
15 ewing's family of tumors 10.4 KITLG KIT
16 breast pericanalicular fibroadenoma 10.4 POMC CMA1
17 plasma protein metabolism disease 10.4 SERPINA3 SERPINA1
18 retrograde amnesia 10.4 POMC PDYN
19 malignant leydig cell tumor 10.3 POMC KIT
20 urticaria 10.3
21 fibrosarcoma of bone 10.3 SERPINA3 SERPINA1 KIT
22 helsmoortel-van der aa syndrome 10.3 KIT ABCB1
23 reticulohistiocytic granuloma 10.3 SERPINA3 SERPINA1
24 indolent systemic mastocytosis 10.3 KITLG KIT CD2
25 rheumatic myocarditis 10.2 POMC CD2
26 endometrial small cell carcinoma 10.2 UBC KIT
27 congenital granular cell tumor 10.2 UBC SERPINA1
28 pulmonary alveolar microlithiasis 10.2
29 hennekam syndrome 10.2 SERPINA1 KITLG
30 rhinosporidiosis 10.2 UBC SERPINA1
31 parasitic ichthyosporea infectious disease 10.2 UBC SERPINA1
32 polycythemia vera 10.1 KITLG KIT BCL2L1
33 withdrawal disorder 10.1 POMC PDYN
34 prolidase deficiency 10.0
35 angioedema 10.0
36 hepatitis b 10.0
37 skin disease 10.0
38 granuloma annulare 10.0
39 scabies 10.0
40 hypereosinophilic syndrome 10.0
41 hypotonia 10.0
42 seizure disorder 10.0
43 rare tumor 10.0
44 leukocyte disease 10.0 KIT CD2 BCL2L1
45 small cell cancer of the lung 10.0 POMC KIT ABCB1
46 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 10.0 KIT DNTT
47 malignant skin fibrous histiocytoma 9.8 UBC KIT
48 thymoma 9.7 KIT DNTT CD2
49 acute leukemia 9.7 KIT DNTT ABCB1
50 colon adenocarcinoma 9.6 CDKN1A BCL2L1 ABCB1

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



Diseases related to Cutaneous Solitary Mastocytoma

Symptoms & Phenotypes for Cutaneous Solitary Mastocytoma

MGI Mouse Phenotypes related to Cutaneous Solitary Mastocytoma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.07 ABCB1 BCL2L1 CDKN1A CMA1 DNTT KIT
2 growth/size/body region MP:0005378 10.06 ABCB1 BCL2L1 CDKN1A KIT KITLG PDYN
3 endocrine/exocrine gland MP:0005379 9.98 ABCB1 BCL2L1 CDKN1A KIT KITLG PEPD
4 immune system MP:0005387 9.97 ABCB1 BCL2L1 CDKN1A CMA1 DNTT KIT
5 integument MP:0010771 9.8 BCL2L1 CDKN1A KIT KITLG PDYN PEPD
6 liver/biliary system MP:0005370 9.63 ABCB1 CDKN1A KIT KITLG POMC UBC
7 neoplasm MP:0002006 9.35 BCL2L1 CDKN1A KIT KITLG POMC
8 pigmentation MP:0001186 8.92 KIT KITLG PEPD POMC

Drugs & Therapeutics for Cutaneous Solitary Mastocytoma

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Cutaneous Mastocytosis in Children: Analysis of Somatic and Germline Mutations Active, not recruiting NCT02761473

Search NIH Clinical Center for Cutaneous Solitary Mastocytoma

Genetic Tests for Cutaneous Solitary Mastocytoma

Anatomical Context for Cutaneous Solitary Mastocytoma

MalaCards organs/tissues related to Cutaneous Solitary Mastocytoma:

41
Skin

Publications for Cutaneous Solitary Mastocytoma

Articles related to Cutaneous Solitary Mastocytoma:

# Title Authors PMID Year
1
Solitary mastocytoma with massive eosinophilic infiltration. 38
7526356 1994

Variations for Cutaneous Solitary Mastocytoma

Expression for Cutaneous Solitary Mastocytoma

Search GEO for disease gene expression data for Cutaneous Solitary Mastocytoma.

Pathways for Cutaneous Solitary Mastocytoma

Pathways related to Cutaneous Solitary Mastocytoma according to GeneCards Suite gene sharing:

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.99 UBC POMC KITLG KIT CDKN1A BCL2L1
2
Show member pathways
12.5 KIT CDKN1A BCL2L1 ABCB1
3
Show member pathways
12.44 UBC KITLG KIT CDKN1A
4
Show member pathways
12 UBC CDKN1A BCL2L1
5
Show member pathways
11.91 KITLG KIT BCL2L1
6 11.61 SERPINA3 CDKN1A BCL2L1
7 11.61 KITLG KIT CD2
8 11.55 POMC CDKN1A BCL2L1
9 11.32 KITLG KIT CDKN1A
10 11.24 KITLG KIT DNTT CD2
11 10.97 SERPINA3 CDKN1A BCL2L1
12 10.94 POMC KITLG KIT
13 10.87 BCL2L1 ABCB1
14 10.68 KITLG KIT
15 9.88 CDKN1A BCL2L1 ABCB1

GO Terms for Cutaneous Solitary Mastocytoma

Cellular components related to Cutaneous Solitary Mastocytoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.17 UBC SERPINA3 SERPINA1 POMC KITLG KIT

Biological processes related to Cutaneous Solitary Mastocytoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 9.56 UBC KITLG CDKN1A BCL2L1
2 male gonad development GO:0008584 9.5 KITLG KIT BCL2L1
3 extrinsic apoptotic signaling pathway in absence of ligand GO:0097192 9.4 KITLG BCL2L1
4 embryonic hemopoiesis GO:0035162 9.37 KITLG KIT
5 ectopic germ cell programmed cell death GO:0035234 9.16 KITLG KIT
6 ovarian follicle development GO:0001541 9.13 KITLG KIT BCL2L1
7 cytokine-mediated signaling pathway GO:0019221 9.02 UBC POMC KIT CDKN1A BCL2L1

Molecular functions related to Cutaneous Solitary Mastocytoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protease binding GO:0002020 8.8 UBC SERPINA1 KIT

Sources for Cutaneous Solitary Mastocytoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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