MCID: CTN001
MIFTS: 36

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 74

Classifications:



External Ids:

Disease Ontology 12 DOID:3666
UMLS 74 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 Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers and Hematopoietic cell lineage. Affiliated tissues include skin, myeloid and lung, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

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 59)
# Related Disease Score Top Affiliating Genes
1 extracutaneous mastocytoma 31.6 CD2 KIT
2 mast cell neoplasm 30.9 CD2 CMA1 KIT KITLG
3 cutaneous mastocytoma 11.8
4 embryonal sarcoma 10.3 KIT SERPINA3
5 acinar cell cystadenocarcinoma 10.3 SERPINA1 SERPINA3
6 inflammatory mfh 10.3 SERPINA1 SERPINA3
7 plasma protein metabolism disease 10.3 SERPINA1 SERPINA3
8 reticulohistiocytic granuloma 10.2 SERPINA1 SERPINA3
9 gastric squamous cell carcinoma 10.2 KITLG SERPINA3
10 aggressive systemic mastocytosis 10.2 KIT KITLG
11 mast-cell leukemia 10.2 KIT KITLG
12 ewing's family of tumors 10.2 KIT KITLG
13 malignant fibroxanthoma 10.2 SERPINA1 SERPINA3
14 sm-ahnmd 10.2 CD2 KIT
15 endometrial small cell carcinoma 10.2 KIT UBC
16 cystathioninuria 10.2 PEPD SERPINA1
17 congenital granular cell tumor 10.2 SERPINA1 UBC
18 malignant skin fibrous histiocytoma 10.2 KIT UBC
19 malignant dermis tumor 10.2 KIT UBC
20 urticaria 10.2
21 alpha-1-antitrypsin deficiency 10.2 SERPINA1 SERPINA3
22 connective tissue cancer 10.2 KIT SERPINA3
23 parasitic ichthyosporea infectious disease 10.2 SERPINA1 UBC
24 rhinosporidiosis 10.1 SERPINA1 UBC
25 hennekam syndrome 10.1 KITLG SERPINA1
26 helsmoortel-van der aa syndrome 10.1 ABCB1 KIT
27 fibrosarcoma of bone 10.1 KIT SERPINA1 SERPINA3
28 testicular yolk sac tumor 10.1 SERPINA1 SERPINA3
29 uterine sarcoma 10.0 ABCB1 KIT
30 malignant leydig cell tumor 10.0 KIT POMC
31 retrograde amnesia 10.0 PDYN POMC
32 neurofibroma 10.0 KIT KITLG
33 breast pericanalicular fibroadenoma 10.0 CMA1 POMC
34 prolidase deficiency 10.0
35 pulmonary alveolar microlithiasis 10.0
36 hepatitis 10.0
37 hepatitis b 10.0
38 angioedema 10.0
39 scabies 10.0
40 seizure disorder 10.0
41 withdrawal disorder 10.0 PDYN POMC
42 mastocytosis 10.0 CD2 KIT KITLG
43 indolent systemic mastocytosis 10.0 CD2 KIT KITLG
44 systemic mastocytosis 10.0 CD2 KIT KITLG
45 pain agnosia 9.9 PDYN POMC
46 agnosia 9.9 PDYN POMC
47 vernal conjunctivitis 9.9 CMA1 POMC
48 rheumatic myocarditis 9.9 CD2 POMC
49 nodular nonsuppurative panniculitis 9.9 POMC SERPINA1
50 opiate dependence 9.9 PDYN POMC

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



Diseases related to Cutaneous Solitary Mastocytoma

Symptoms & Phenotypes for Cutaneous Solitary Mastocytoma

GenomeRNAi Phenotypes related to Cutaneous Solitary Mastocytoma according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.4 KITLG
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-141 9.4 ABCB1 KITLG POMC
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.4 KITLG
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-154 9.4 ABCB1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-167 9.4 ABCB1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-20 9.4 KITLG
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-211 9.4 ABCB1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.4 KITLG
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-59 9.4 POMC
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-87 9.4 ABCB1

MGI Mouse Phenotypes related to Cutaneous Solitary Mastocytoma:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.7 ABCB1 CMA1 KIT KITLG PEPD POMC
2 liver/biliary system MP:0005370 9.35 ABCB1 KIT KITLG POMC UBC
3 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 Efficacy and Safety of TF002 in Cutaneous Mastocytosis Completed NCT00457288 Phase 2 TF 002
2 Natural History of Urticaria Pigmentosa in Children Completed NCT00467792
3 Cutaneous Mastocytosis in Children: Analysis of Somatic and Germline Mutations Active, not recruiting NCT02761473
4 Adaptation of the Questionnaire "Regarding Patient's Quality of Life With Mastocytosis" in the French Language Not yet recruiting NCT03632811
5 Evaluation of Patient Satisfaction With and Acceptance of Their Totally-implanted Central Venous Catheter Terminated NCT01616537 Not Applicable

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:

42
Skin, Myeloid, Lung, Bone, Breast

Publications for Cutaneous Solitary Mastocytoma

Articles related to Cutaneous Solitary Mastocytoma:

(show top 50) (show all 51)
# Title Authors Year
1
Perioperative anaphylaxis in a patient with a solitary mastocytoma. ( 30854701 )
2019
2
Solitary mastocytoma in the eyelid of an adult. ( 29468227 )
2018
3
Solitary mastocytoma presenting at birth. ( 29716178 )
2018
4
Solitary Mastocytoma of the Eyelid in an Adult Patient With Prolidase Deficiency. ( 25603535 )
2017
5
Rare cause of recurrent urticaria in childhood and its unusual presentation: Solitary mastocytoma on vulva. ( 27206703 )
2017
6
Solitary mastocytoma presenting in an adult: report and literature review of adult-onset solitary cutaneous mastocytoma with recommendations for evaluation and treatment. ( 27648381 )
2016
7
Solitary mastocytoma with positive Darier's sign. ( 27057508 )
2016
8
Topical corticosteroids versus "wait and see" in the management of solitary mastocytoma in pediatric patients: a long-term follow-up. ( 25471152 )
2015
9
Identification of KIT activating mutations in paediatric solitary mastocytoma. ( 24128084 )
2014
10
Solitary mastocytoma of the vulva. ( 24800094 )
2014
11
Case Report: Solitary mastocytoma treated successfully with topical tacrolimus. ( 25210620 )
2014
12
Solitary mastocytoma mimicking granuloma faciale. ( 25257118 )
2014
13
Solitary mastocytoma with associated pseudocarcinomatous hyperplasia. ( 23252514 )
2013
14
Solitary mastocytoma of the eyelid. ( 23871296 )
2013
15
Dermacase: Can you identify this condition? Solitary mastocytoma. ( 22977914 )
2012
16
Solitary mastocytoma with histologic features of eosinophilic cellulites. ( 21540136 )
2011
17
Pathology quiz case 1. Pediatric solitary mastocytoma. ( 21768423 )
2011
18
Solitary mastocytoma in an adult with an unusual clinical presentation. ( 21839341 )
2011
19
A solitary mastocytoma presenting with urticaria and angioedema in a 14-year-old boy. ( 21708063 )
2010
20
A rare presentation of solitary mastocytoma in the palm of an infant. ( 19502121 )
2010
21
Scabies presenting as solitary mastocytoma-like eruption in an infant. ( 19689539 )
2009
22
Solitary mastocytoma occurring at a site of trauma. ( 19397569 )
2009
23
Adult onset, hypopigmented solitary mastocytoma: report of two cases. ( 18187823 )
2008
24
Solitary mastocytoma: tooth eruption as triggering factor. ( 19126015 )
2008
25
Flushing and increase of serum tryptase after mechanical irritation of a solitary mastocytoma. ( 17540642 )
2007
26
Solitary mastocytoma. ( 15876605 )
2005
27
Solitary mastocytoma successfully treated with a moderate potency topical steroid. ( 15176167 )
2004
28
Electron microscopic study in a case of solitary mastocytoma. ( 15222530 )
2004
29
A red-brown plaque on the nape. Solitary mastocytoma. ( 15492195 )
2004
30
What is your diagnosis? Solitary mastocytoma. ( 15551714 )
2004
31
Solitary mastocytoma of the vulva: report of a case. ( 14501824 )
2003
32
Solitary mastocytoma improved by intralesional injections of steroid. ( 12227491 )
2002
33
Solitary mastocytoma in an infant - case report with review of literature. ( 10699246 )
2000
34
Solitary mastocytoma arising at a hepatitis B vaccination site. ( 9951594 )
1999
35
Solitary mastocytoma on the palm. ( 9796592 )
1998
36
Solitary mastocytoma in an adult. ( 20944363 )
1997
37
Solitary mastocytoma treated with tranilast. ( 8675824 )
1996
38
Solitary mastocytoma producing symptoms mimicking those of a seizure disorder. ( 7822745 )
1994
39
Solitary mastocytoma with massive eosinophilic infiltration. ( 7526356 )
1994
40
Necrobiosis in solitary mastocytoma: coincidence or pathogenesis? ( 8040468 )
1994
41
Giant mast cell granules in a solitary mastocytoma. ( 7684134 )
1993
42
Solitary mastocytoma in an adult. Treatment by excision. ( 8496494 )
1993
43
Solitary mastocytoma causing recurrent blistering in infancy. ( 1520008 )
1992
44
Anesthetic management of an infant with a solitary mastocytoma. ( 15236003 )
1990
45
A case of solitary mastocytoma suggesting a divided form of mast cell nevus. ( 2600279 )
1989
46
Solitary mastocytoma of the eyelid. A case report with special reference to the immunocytology of human tissue mast cells, and a review of the literature. ( 3120401 )
1987
47
Solitary mastocytoma of infancy. ( 4203516 )
1974
48
Solitary mastocytoma. ( 4198080 )
1972
49
Solitary mastocytoma. ( 4989496 )
1970
50
Solitary mastocytoma. Case report in an adult. ( 4976401 )
1969

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:

# Super pathways Score Top Affiliating Genes
1 11.4 CD2 KIT KITLG
2 11.12 CD2 KIT KITLG
3 11 KIT KITLG
4 10.46 KIT KITLG
5 10.41 KIT KITLG POMC

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 region GO:0005576 9.43 CMA1 KITLG PDYN POMC SERPINA1 SERPINA3
2 extracellular space GO:0005615 9.17 CMA1 KIT KITLG POMC SERPINA1 SERPINA3

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

# Name GO ID Score Top Affiliating Genes
1 ovarian follicle development GO:0001541 9.26 KIT KITLG
2 acute-phase response GO:0006953 9.16 SERPINA1 SERPINA3
3 embryonic hemopoiesis GO:0035162 8.96 KIT KITLG
4 ectopic germ cell programmed cell death GO:0035234 8.62 KIT KITLG

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 KIT SERPINA1 UBC

Sources for Cutaneous Solitary Mastocytoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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