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 70
Mastocytoma 44 70
Mast Cell Neoplasm 70
Benign Mastocytoma 70

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 44 D034801
NCIt 50 C7136
SNOMED-CT 67 63175003
ICD10 32 D47.09
ICD10 via Orphanet 33 C96.2
UMLS via Orphanet 71 C0272202
Orphanet 58 ORPHA66662
UMLS 70 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 Gene Expression and NF-kappaB Signaling. Affiliated tissues include bone marrow, t cells and myeloid.

Wikipedia : 73 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 118)
# Related Disease Score Top Affiliating Genes
1 benign mastocytoma 31.9 KIT CD2
2 cutaneous solitary mastocytoma 31.6 KITLG KIT CD2
3 mast-cell sarcoma 31.1 KITLG KIT FIP1L1 CD2
4 mastocytosis, cutaneous 30.7 TET2 KITLG KIT FIP1L1 CD2
5 dowling-degos disease 1 29.9 KITLG KIT
6 myeloid sarcoma 29.8 U2AF1 KIT
7 mast-cell leukemia 29.6 U2AF1 KITLG KIT
8 mast cell neoplasm 29.5 U2AF1 KITLG KIT CD2
9 mastocytosis 29.0 TET2 SRSF2 KITLG KIT FIP1L1 CD2
10 systemic mastocytosis 28.4 TET2 SRSF2 KITLG KIT FIP1L1 CD2
11 leukemia, acute myeloid 27.6 U2AF1 TET2 SRSF2 KITLG KIT FIP1L1
12 cutaneous mastocytoma 11.7
13 urticaria 10.2
14 pertussis 10.2
15 48,xyyy 10.1
16 germinoma 10.1 U2AF1 KIT
17 nasal cavity benign neoplasm 10.1 KIT CD2
18 uterine body mixed cancer 10.1 U2AF1 KIT
19 nephroma 10.1 U2AF1 KIT
20 lymphosarcoma 10.1
21 patau syndrome 10.1 U2AF1 SRSF2
22 myeloid and lymphoid neoplasms associated with pdgfra rearrangement 10.1 KIT FIP1L1
23 chronic neutrophilic leukemia 10.1 U2AF1 SRSF2
24 hypereosinophilic syndrome, idiopathic 10.1 KIT FIP1L1
25 endometrial stromal tumor 10.1 U2AF1 SRSF2
26 dysgerminoma 10.0 KITLG KIT
27 dysgerminoma of ovary 10.0 KITLG KIT
28 lung leiomyosarcoma 10.0 KITLG KIT
29 waardenburg syndrome, type 4b 10.0 KITLG KIT
30 tietz albinism-deafness syndrome 10.0 KITLG KIT
31 refractory cytopenia with multilineage dysplasia 9.9 U2AF1 TET2
32 nuclear ribonucleic acid 9.9
33 langerhans cell histiocytosis 9.9
34 cutaneous t cell lymphoma 9.9
35 cholera 9.9
36 melanoma 9.9
37 histiocytosis 9.9
38 skin disease 9.9
39 hypereosinophilic syndrome 9.9
40 piebald trait 9.9 KITLG KIT
41 uterine carcinosarcoma 9.9 U2AF1 KIT
42 pancytopenia 9.9 U2AF1 KIT CD2
43 testicular germ cell cancer 9.9 KITLG KIT
44 testicular disease 9.9 KITLG KIT
45 testicular germ cell tumor 9.9 KITLG KIT
46 oligospermia 9.9 KITLG KIT
47 leukocyte disease 9.9 U2AF1 KIT FIP1L1
48 macrocytic anemia 9.9 U2AF1 KITLG
49 neurofibroma 9.9 KITLG KIT
50 endometrial stromal sarcoma 9.9 U2AF1 SRSF2 KIT

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



Diseases related to Extracutaneous Mastocytoma

Symptoms & Phenotypes for Extracutaneous Mastocytoma

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 Completed 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) 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
Bone Marrow, T Cells, Myeloid, Thymus, Spleen, Skin, Endothelial

Publications for Extracutaneous Mastocytoma

Articles related to Extracutaneous Mastocytoma:

(show top 50) (show all 1756)
# Title Authors PMID Year
1
Mastocytosis in the skin accompanied by pseudo-Kaposi's sarcoma. 61
33684229 2021
2
Novel antibodies that selectively block mouse IL-12 enable the re-evaluation of the role of IL-12 in immune protection and pathology. 61
33788263 2021
3
Mediator-Related Symptoms and Anaphylaxis in Children with Mastocytosis. 61
33799959 2021
4
Darier sign in mastocytoma. 61
33715187 2021
5
Cutaneous mastocytosis: A dermatological perspective. 61
33040350 2021
6
Reflectance confocal microscopy of solitary mastocytoma and correlation with horizontal histopathological sections. 61
32585731 2021
7
Pleomorphic mastocytoma associated with loss of chromosome 5, PDGFRA, and HRAS mutations: A case of cutaneous mastocytosis with severe atypia and indolent behavior. 61
32896008 2021
8
Reflectance confocal microscopy as a diagnostic tool for mastocytoma in children. 61
32276049 2020
9
Rare presentation of adult-onset cutaneous mastocytoma of the breast. 61
33342184 2020
10
Canine and Feline Cutaneous Mast Cell Tumor: A Comprehensive Review of Treatments and Outcomes. 61
32891740 2020
11
Characterization of WWOX expression and function in canine mast cell tumors and malignant mast cell lines. 61
33129329 2020
12
Role of Zinc Sulphate in Immune Regulation in Artemisia annua Pollen-challenged P815 Mastocytoma Cells. 61
31913054 2020
13
Ultraviolet A1 phototherapy for the treatment of localized scleroderma. 61
32383187 2020
14
Possible Relationship between Long-Term Adverse Health Effects of Gonad-Removing Surgical Sterilization and Luteinizing Hormone in Dogs. 61
32244716 2020
15
Dermoscopic findings of a congenital smooth muscle hamartoma in an infant. 61
31840858 2020
16
Safety, Immunogenicity, and Effectiveness of Defective Viral Particles Arising in Mast Cells Against Influenza in Mice. 61
33304349 2020
17
Defective Viral Particles Produced in Mast Cells Can Effectively Fight Against Lethal Influenza A Virus. 61
33250863 2020
18
Solitary Bullous Mastocytoma with Dermoscopic Features in a Neonate. 61
31723467 2019
19
Reactive Oxygen Species-Mediated Apoptosis and Cytotoxicity of Newly Synthesized Pyridazin-3-Ones In P815 (Murin Mastocytoma) Cell Line. 61
31252433 2019
20
Corrigendum: The JAK2/STAT5 signaling pathway as a potential therapeutic target in canine mastocytoma. 61
31397543 2019
21
Immunophenotype of pediatric-onset mastocytosis does not correlate with clinical course. 61
31120154 2019
22
Cutaneous mastocytoma associated with abundant eosinophil infiltration and flame figures. 61
31034654 2019
23
Perioperative anaphylaxis in a patient with a solitary mastocytoma. 61
30854701 2019
24
[Isolated mastocytoma in children: a case study]. 61
31143350 2019
25
Childhood Solitary Cutaneous Mastocytoma: Clinical Manifestations, Diagnosis, Evaluation, and Management. 61
30465511 2019
26
Phytochemical analysis, cytotoxic and antioxidant activities of Myrtus communis essential oil from Morocco. 61
30661057 2019
27
Combination of immune checkpoint blockade with DNA cancer vaccine induces potent antitumor immunity against P815 mastocytoma. 61
30356111 2018
28
Paediatric mastocytosis: long-term follow-up of 53 patients with whole sequencing of KIT. A prospective study. 61
29787623 2018
29
Incorporation, intracellular trafficking and processing of extracellular heparanase by mast cells: Involvement of syndecan-4-dependent pathway. 61
30149916 2018
30
Cutaneous Mastocytosis in Adults and Children: New Classification and Prognostic Factors. 61
30007456 2018
31
Increased IL-27/IL-27R expression in association with the immunopathology of murine ocular toxoplasmosis. 61
29779048 2018
32
Combined hyperpolarized 13C-pyruvate MRS and 18F-FDG PET (hyperPET) estimates of glycolysis in canine cancer patients. 61
29803387 2018
33
Solitary mastocytoma presenting at birth. 61
29716178 2018
34
Dermoscopy of Cutaneous Mastocytoma. 61
29854655 2018
35
Use of intralesional blood to determine diffusible biomarkers from skin lesions. 61
29366526 2018
36
Reconstitution of a ligand-binding competent murine NKp30 receptor. 61
28782088 2018
37
Pillars Article: Leukotriene C: A Slow-Reacting Substance from Murine Mastocytoma Cells. Proc. Natl. Acad. Sci. USA. 1979. 76: 4275-4279. 61
29463690 2018
38
Antigen-adjuvant effects of icariin in enhancing tumor-specific immunity in mastocytoma-bearing DBA/2J mice. 61
29710479 2018
39
Solitary mastocytoma in the eyelid of an adult. 61
29468227 2018
40
The JAK2/STAT5 signaling pathway as a potential therapeutic target in canine mastocytoma. 61
28397975 2018
41
Pleomorphic mastocytoma in an adult. 61
29148588 2018
42
Biotin conjugated organic molecules and proteins for cancer therapy: A review. 61
29324341 2018
43
IL-4 downregulates expression of the target receptor CD30 in neoplastic canine mast cells. 61
27507155 2017
44
Cellular effects of a turmeric root and rosemary leaf extract on canine neoplastic cell lines. 61
29237458 2017
45
Natural history and treatment of cutaneous and systemic mastocytosis. 61
28770635 2017
46
Codon-Optimized P1A-Encoding DNA Vaccine: Toward a Therapeutic Vaccination against P815 Mastocytoma. 61
28918040 2017
47
The role of serum tryptase in the diagnosis and monitoring of pediatric mastocytosis: a single-center experience. 61
28951704 2017
48
R634W KIT Mutation in an Adult With Systemic Mastocytosis. 61
28520972 2017
49
New interleukin-15 superagonist (IL-15SA) significantly enhances graft-versus-tumor activity. 61
28574833 2017
50
Differential Cytotoxic Activity of Essential Oil of Lippia citriodora from Different Regions in Morocco. 61
28317320 2017

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 9.63 U2AF1 SRSF2 FIP1L1
2 mRNA splicing, via spliceosome GO:0000398 9.5 U2AF1 SRSF2 FIP1L1
3 positive regulation of MAP kinase activity GO:0043406 9.43 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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