MCID: EXT007
MIFTS: 38

Extracutaneous Mastocytoma

Categories: Blood diseases, Cancer diseases, Rare diseases

Aliases & Classifications for Extracutaneous Mastocytoma

MalaCards integrated aliases for Extracutaneous Mastocytoma:

Name: Extracutaneous Mastocytoma 12 58 15 17 71
Mastocytoma 43 71
Mast Cell Neoplasm 71
Benign Mastocytoma 71

Characteristics:

Orphanet epidemiological data:

58
extracutaneous mastocytoma
Age of onset: All ages;

Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:4659
MeSH 43 D034801
NCIt 49 C7136
SNOMED-CT 67 63175003
ICD10 32 D47.09
ICD10 via Orphanet 33 C96.2
UMLS via Orphanet 72 C0272202
Orphanet 58 ORPHA66662
UMLS 71 C0024897 C0272202 C0334664 more

Summaries for Extracutaneous Mastocytoma

MalaCards based summary : Extracutaneous Mastocytoma, also known as mastocytoma, is related to benign mastocytoma and cutaneous solitary mastocytoma. An important gene associated with Extracutaneous Mastocytoma is U2AF1 (U2 Small Nuclear RNA Auxiliary Factor 1), and among its related pathways/superpathways are NF-kappaB Signaling and Cleavage of Growing Transcript in the Termination Region. Affiliated tissues include t cells, skin and bone, and related phenotype is neoplasm.

Wikipedia : 74 Extracutaneous mastocytoma presents with benign appearing mast cells occurring in sites other than the... more...

Related Diseases for Extracutaneous Mastocytoma

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

(show top 50) (show all 112)
# Related Disease Score Top Affiliating Genes
1 benign mastocytoma 33.7 KIT CD2
2 cutaneous solitary mastocytoma 33.4 KITLG KIT CD2
3 mastocytosis, cutaneous 31.7 TET2 KITLG KIT FIP1L1 CD2
4 mast-cell sarcoma 31.5 KITLG KIT FIP1L1 CD2
5 dowling-degos disease 1 30.2 KITLG KIT
6 myeloid sarcoma 30.0 U2AF1 KIT
7 mast-cell leukemia 29.9 U2AF1 KITLG KIT
8 leukemia 29.3 U2AF1 TET2 KIT ASXL1
9 mastocytosis 28.1 TET2 SRSF2 KITLG KIT FIP1L1 CD2
10 mast cell neoplasm 27.6 U2AF1 SRSF2 KITLG KIT FIP1L1 CD2
11 systemic mastocytosis 27.2 U2AF1 TET2 SRSF2 KITLG KIT FIP1L1
12 leukemia, acute myeloid 26.6 U2AF1 TET2 SRSF2 KITLG KIT FIP1L1
13 cutaneous mastocytoma 12.9
14 urticaria 10.5
15 pertussis 10.4
16 48,xyyy 10.3
17 lymphosarcoma 10.3
18 germinoma 10.1 U2AF1 KIT
19 nuclear ribonucleic acid 10.1
20 langerhans cell histiocytosis 10.1
21 melanoma, cutaneous malignant 10 10.1
22 cutaneous t cell lymphoma 10.1
23 hypothyroidism 10.1
24 cholera 10.1
25 melanoma 10.1
26 histiocytosis 10.1
27 skin disease 10.1
28 hypereosinophilic syndrome 10.1
29 uterine body mixed cancer 10.1 U2AF1 KIT
30 hypereosinophilic syndrome, idiopathic 10.1 KIT FIP1L1
31 myeloid and lymphoid neoplasms associated with pdgfra rearrangement 10.1 KIT FIP1L1
32 nephroma 10.1 U2AF1 KIT
33 dysgerminoma 10.0 KITLG KIT
34 dysgerminoma of ovary 10.0 KITLG KIT
35 prolidase deficiency 10.0
36 pheochromocytoma 10.0
37 chondrodysplasia, blomstrand type 10.0
38 chondrosarcoma 10.0
39 hemangiopericytoma, malignant 10.0
40 immune deficiency disease 10.0
41 dermatitis, atopic 10.0
42 diamond-blackfan anemia 2 10.0
43 dengue virus 10.0
44 adrenal gland pheochromocytoma 10.0
45 sarcoma 10.0
46 disseminated intravascular coagulation 10.0
47 tetanus 10.0
48 neutropenia 10.0
49 angioedema 10.0
50 duodenal ulcer 10.0

Graphical network of the top 20 diseases related to Extracutaneous Mastocytoma:



Diseases related to Extracutaneous Mastocytoma

Symptoms & Phenotypes for Extracutaneous Mastocytoma

MGI Mouse Phenotypes related to Extracutaneous Mastocytoma:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 8.92 ASXL1 KIT KITLG TET2

Drugs & Therapeutics for Extracutaneous 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 Adaptation of the Questionnaire "Regarding Patient's Quality of Life With Mastocytosis" in the French Language Completed NCT03632811
3 Cutaneous Mastocytosis in Children: Analysis of Somatic and Germline Mutations Active, not recruiting NCT02761473
4 Evaluation of the Improvement of Pigmented Skin Lesions in Patients With Mastocytosis After Performing 2 Sessions of Pigment Laser : Pilot Study Conducted at a Reference Centre Mastocytoses (LaserMasto) Not yet recruiting NCT04377828

Search NIH Clinical Center for Extracutaneous Mastocytoma

Cochrane evidence based reviews: mastocytoma

Genetic Tests for Extracutaneous Mastocytoma

Anatomical Context for Extracutaneous Mastocytoma

MalaCards organs/tissues related to Extracutaneous Mastocytoma:

40
T Cells, Skin, Bone, Bone Marrow, Spleen, Liver, Monocytes

Publications for Extracutaneous Mastocytoma

Articles related to Extracutaneous Mastocytoma:

(show top 50) (show all 1744)
# Title Authors PMID Year
1
Ultraviolet A1 phototherapy for the treatment of localized scleroderma. 61
32383187 2020
2
Possible Relationship between Long-Term Adverse Health Effects of Gonad-Removing Surgical Sterilization and Luteinizing Hormone in Dogs. 61
32244716 2020
3
Reflectance confocal microscopy as a diagnostic tool for mastocytoma in children. 61
32276049 2020
4
Role of Zinc Sulphate in Immune Regulation in Artemisia annua Pollen-challenged P815 Mastocytoma Cells. 61
31913054 2020
5
Dermoscopic findings of a congenital smooth muscle hamartoma in an infant. 61
31840858 2020
6
Solitary Bullous Mastocytoma with Dermoscopic Features in a Neonate. 61
31723467 2019
7
Reactive Oxygen Species-Mediated Apoptosis and Cytotoxicity of Newly Synthesized Pyridazin-3-Ones In P815 (Murin Mastocytoma) Cell Line. 61
31252433 2019
8
Corrigendum: The JAK2/STAT5 signaling pathway as a potential therapeutic target in canine mastocytoma. 61
31397543 2019
9
Immunophenotype of pediatric-onset mastocytosis does not correlate with clinical course. 61
31120154 2019
10
Cutaneous mastocytoma associated with abundant eosinophil infiltration and flame figures. 61
31034654 2019
11
Perioperative anaphylaxis in a patient with a solitary mastocytoma. 61
30854701 2019
12
[Isolated mastocytoma in children: a case study]. 61
31143350 2019
13
Childhood Solitary Cutaneous Mastocytoma: Clinical Manifestations, Diagnosis, Evaluation, and Management. 61
30465511 2019
14
Phytochemical analysis, cytotoxic and antioxidant activities of Myrtus communis essential oil from Morocco. 61
30661057 2019
15
Paediatric mastocytosis: long-term follow-up of 53 patients with whole sequencing of KIT. A prospective study. 61
29787623 2018
16
Combination of immune checkpoint blockade with DNA cancer vaccine induces potent antitumor immunity against P815 mastocytoma. 61
30356111 2018
17
Incorporation, intracellular trafficking and processing of extracellular heparanase by mast cells: Involvement of syndecan-4-dependent pathway. 61
30149916 2018
18
Cutaneous Mastocytosis in Adults and Children: New Classification and Prognostic Factors. 61
30007456 2018
19
Increased IL-27/IL-27R expression in association with the immunopathology of murine ocular toxoplasmosis. 61
29779048 2018
20
Solitary mastocytoma presenting at birth. 61
29716178 2018
21
Combined hyperpolarized 13C-pyruvate MRS and 18F-FDG PET (hyperPET) estimates of glycolysis in canine cancer patients. 61
29803387 2018
22
Dermoscopy of Cutaneous Mastocytoma. 61
29854655 2018
23
Use of intralesional blood to determine diffusible biomarkers from skin lesions. 61
29366526 2018
24
Pillars Article: Leukotriene C: A Slow-Reacting Substance from Murine Mastocytoma Cells. Proc. Natl. Acad. Sci. USA. 1979. 76: 4275-4279. 61
29463690 2018
25
Solitary mastocytoma in the eyelid of an adult. 61
29468227 2018
26
Antigen-adjuvant effects of icariin in enhancing tumor-specific immunity in mastocytoma-bearing DBA/2J mice. 61
29710479 2018
27
The JAK2/STAT5 signaling pathway as a potential therapeutic target in canine mastocytoma. 61
28397975 2018
28
Reconstitution of a ligand-binding competent murine NKp30 receptor. 61
28782088 2018
29
Pleomorphic mastocytoma in an adult. 61
29148588 2018
30
Biotin conjugated organic molecules and proteins for cancer therapy: A review. 61
29324341 2018
31
Cellular effects of a turmeric root and rosemary leaf extract on canine neoplastic cell lines. 61
29237458 2017
32
IL-4 downregulates expression of the target receptor CD30 in neoplastic canine mast cells. 61
27507155 2017
33
Natural history and treatment of cutaneous and systemic mastocytosis. 61
28770635 2017
34
Codon-Optimized P1A-Encoding DNA Vaccine: Toward a Therapeutic Vaccination against P815 Mastocytoma. 61
28918040 2017
35
The role of serum tryptase in the diagnosis and monitoring of pediatric mastocytosis: a single-center experience. 61
28951704 2017
36
R634W KIT Mutation in an Adult With Systemic Mastocytosis. 61
28520972 2017
37
New interleukin-15 superagonist (IL-15SA) significantly enhances graft-versus-tumor activity. 61
28574833 2017
38
Differential Cytotoxic Activity of Essential Oil of Lippia citriodora from Different Regions in Morocco. 61
28317320 2017
39
Estimating canine cancer incidence: findings from a population-based tumour registry in northwestern Italy. 61
28659149 2017
40
Effect of H4R antagonist N-(2-aminoethyl)-5-chloro-1H-indol-2-carboxamides and 5-chloro-2-(piperazin-1-ylmethyl)-1H-benzimidazole on histamine and 4-methylhistamine-induced mast cell response. 61
27807993 2017
41
Recent clinical trials of cancer immunogene therapy in companion animals. 61
28589078 2017
42
Rare cause of recurrent urticaria in childhood and its unusual presentation: Solitary mastocytoma on vulva. 61
27206703 2017
43
Distinct patterns of cytolytic T-cell activation by different tumour cells revealed by Ca2+ signalling and granule mobilization. 61
27716898 2017
44
The Effect of Co0.2Mn0.8Fe2O4 Ferrite Nanoparticles on the C2 Canine Mastocytoma Cell Line and Adipose-Derived Mesenchymal Stromal Stem Cells (ASCs) Cultured Under a Static Magnetic Field: Possible Implications in the Treatment of Dog Mastocytoma. 61
28580034 2017
45
Familial Progressive Hyperpigmentation, Cutaneous Mastocytosis, and Gastrointestinal Stromal Tumor as Clinical Manifestations of Mutations in the c-KIT Receptor Gene. 61
27981619 2017
46
Solitary Mastocytoma of the Eyelid in an Adult Patient With Prolidase Deficiency. 61
25603535 2017
47
Targeting the Human T-Cell Inducible COStimulator Molecule with a Monoclonal Antibody Prevents Graft-vs-Host Disease and Preserves Graft vs Leukemia in a Xenograft Murine Model. 61
28713380 2017
48
Science Signaling Podcast for 20 December 2016: Trans-inhibition by Fc receptors. 61
27999172 2016
49
Trans-inhibition of activation and proliferation signals by Fc receptors in mast cells and basophils. 61
27999175 2016
50
[Diffuse cutaneous mastocytosis of an infant: A case report]. 61
27670724 2016

Variations for Extracutaneous Mastocytoma

Expression for Extracutaneous Mastocytoma

Search GEO for disease gene expression data for Extracutaneous Mastocytoma.

Pathways for Extracutaneous Mastocytoma

GO Terms for Extracutaneous Mastocytoma

Cellular components related to Extracutaneous Mastocytoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasmic side of plasma membrane GO:0009898 8.62 KIT CD2

Biological processes related to Extracutaneous Mastocytoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mRNA processing GO:0006397 9.61 U2AF1 SRSF2 FIP1L1
2 mRNA splicing, via spliceosome GO:0000398 9.5 U2AF1 SRSF2 FIP1L1
3 positive regulation of MAP kinase activity GO:0043406 9.46 KITLG KIT
4 RNA export from nucleus GO:0006405 9.4 U2AF1 SRSF2
5 ovarian follicle development GO:0001541 9.37 KITLG KIT
6 mRNA export from nucleus GO:0006406 9.33 U2AF1 SRSF2 FIP1L1
7 embryonic hemopoiesis GO:0035162 9.26 KITLG KIT
8 ectopic germ cell programmed cell death GO:0035234 8.96 KITLG KIT
9 mRNA 3'-end processing GO:0031124 8.8 U2AF1 SRSF2 FIP1L1

Sources for Extracutaneous Mastocytoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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