MCID: URT008

Urticaria Pigmentosa malady

Summaries for Urticaria Pigmentosa

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44Wikipedia, 22MalaCards
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Wikipedia: Urticaria pigmentosa (also known as \"Generalized eruption of cutaneous mastocytosis (childhood type)\"...44 more...

MalaCards: Urticaria Pigmentosa, also known as urticaria pigmentosa (disorder), is related to cutaneous mastocytosis and urticaria. An important gene associated with Urticaria Pigmentosa is KIT (v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog), and among its related pathways are Melanocyte Development and Pigmentation and Development_EPO-induced MAPK pathway. The compounds monochloroacetic acid and ag-1296 have been mentioned in the context of this disorder. Affiliated tissues include skin.

Aliases & Descriptions for Urticaria Pigmentosa

Sources:
6Disease Ontology, 32Novoseek , 43UMLS, 40SNOMED-CT, 27NCIt, 24MeSH, 33OMIM
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Aliases & Descriptions:

urticaria pigmentosa 6 32 43
urticaria pigmentosa (disorder) 6
up/mpcm 6

External Ids:

NCIt27 C3433

Related Diseases for Urticaria Pigmentosa

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13GeneCards, 14GeneDecks
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Diseases related to urticaria pigmentosa by text searches and GeneDecks gene sharing:

(show top 50)    (show all 61)
idRelated DiseaseScoreTop Affiliating Genes
1cutaneous mastocytosis30.5KIT, KITLG
2urticaria30.3TCAP, IL2RA, CMA1, KITLG, KIT
3mastocytosis29.6IL2RA, CMA1, KITLG, KIT
4indolent systemic mastocytosis29.2KITLG, KIT
5mast cell neoplasm28.3CMA1, KITLG, KIT
6aggressive systemic mastocytosis13.0KITLG, KIT
7mast-cell sarcoma13.0KIT, KITLG
8hyperpigmentation of eyelid12.9KIT, KITLG
9piebaldism12.9KITLG, KIT
10mast-cell leukemia12.9KIT, KITLG
11perivascular epithelioid cell tumor12.9KITLG, KIT
12chronic myelomonocytic leukemia12.9KITLG, KIT
13essential thrombocythemia12.9KIT, KITLG
14germinoma12.9KITLG, KIT
15gliosarcoma12.9KIT, KITLG
16dysgerminoma12.9KIT, KITLG
17gamma chain deficiency12.9IL2RA, KITLG
18adenosquamous carcinoma12.8KITLG, KIT
19hypereosinophilic syndrome12.8IL2RA, KIT
20neurofibromatosis12.8KIT, KITLG
21renal oncocytoma12.8KITLG, KIT
22pure red-cell aplasia12.8KITLG, IL2RA
23letterer-siwe disease12.8KITLG, KIT
24myeloproliferative disorder12.8KITLG, KIT
25neurofibroma12.7KITLG, KIT
26myxoma12.7KITLG, KIT
27gastrointestinal system disease12.7KIT, IL2RA
28plasmodium falciparum malaria12.7KITLG, IL2RA
29angiosarcoma12.6KIT, KITLG
30peripheral primitive neuroectodermal tumor12.6KIT, KITLG
31melanoma metastasis12.5KITLG, KIT
32sm-ahnmd12.4KIT, KITLG, IL2RA
33megakaryoblastic leukemia12.4KIT, KITLG, IL2RA
34hematologic cancer12.4IL2RA, KITLG, KIT
35vitiligo12.4KIT, KITLG, IL2RA
36alopecia12.4KIT, KITLG, IL2RA
37soft tissue sarcoma12.4IL2RA, KITLG, KIT
38merkel cell carcinoma12.4KIT, KITLG
39bronchiolitis12.4IL2RA, KITLG, KIT
40cervical carcinoma12.3KIT, KITLG, IL2RA
41fibrosarcoma12.3CMA1, KITLG, KIT
42duodenitis12.2KIT, KITLG, CMA1
43bronchial asthma12.2IL2RA, CMA1, KITLG
44atopy12.2KITLG, CMA1, IL2RA
45rhinitis12.2IL2RA, CMA1, KITLG
46hyperparathyroidism12.2IL2RA, CMA1, KITLG
47leukemia/lymphoma, t-cell12.1KITLG, IL2RA
48atopic dermatitis12.1IL2RA, CMA1, KITLG
49diabetic retinopathy12.0KITLG, IL2RA, TCAP
50nasopharyngitis12.0KIT, KITLG, IL2RA

Graphical network of the top 20 diseases related to urticaria pigmentosa:



Graphical network of diseases related to urticaria pigmentosa

Clinical Features for Urticaria Pigmentosa

Drugs & Therapeutics for Urticaria Pigmentosa

Sources:
4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT
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Approved drugs:

Search CenterWatch for urticaria pigmentosa

Drug clinical trials:

Search ClinicalTrials for urticaria pigmentosa

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Genetic Tests for Urticaria Pigmentosa

Anatomical Context for Urticaria Pigmentosa

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22MalaCards
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MalaCards organs/tissues related to urticaria pigmentosa:

22
Skin

Phenotypes for genes affiliated with Urticaria Pigmentosa

Publications for genes affiliated with Urticaria Pigmentosa

Sources:
35PubMed
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Articles related to urticaria pigmentosa:

idTitleAuthorsYearAffiliating Genes
1CD25 expression on cutaneous mast cells from adult patients presenting with urticaria pigmentosa is predictive of systemic mastocytosis. (18162781)Hollmann T.J.... Hornick J.L.2008IL2RA
2Evolution of urticaria pigmentosa into indolent systemic mastocytosis: abnormal immunophenotype of mast cells without evidence of c-kit mutation ASP-816-VAL. (12688351)Noack F.... Horny H.P.2003KITLG
3Mast cells with bilobed or multilobed nuclei in a nodular lesion of a patient with urticaria pigmentosa. (12454601)Hu S.... Hong H.S.2002KIT
4Germline mutation in the juxtamembrane domain of the kit gene in a family with gastrointestinal stromal tumors and urticaria pigmentosa. (11505412)Beghini A.... Larizza L.2001KIT
5Enhanced expression of SCF in the dermis is a prognostic factor for the regression of urticaria pigmentosa. (10586131)Onuma H.... Morokashi M.1999KITLG
6Lack of c-kit mutation in familial urticaria pigmentosa. (10354021)Rosbotham J.L.... Carter N.D.1999KIT
7Somatic c-KIT activating mutation in urticaria pigmentosa and aggressive mastocytosis: establishment of clonality in a human mast cell neoplasm. (8589724)Longley B.J.... Modlin I.1996KIT
8Determination of the primary structures of human skin chymase and cathepsin G from cutaneous mast cells of urticaria pigmentosa lesions. (8144971)Schechter N.M.... Rubin H.1994CMA1

Expression for genes affiliated with Urticaria Pigmentosa

Sources:
1BioGPS
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Expression patterns in normal tissues for genes affiliated with Urticaria Pigmentosa

Pathways for genes affiliated with Urticaria Pigmentosa

Sources:
36QIAGEN, 41Thomson Reuters, 10EMD Millipore, 20KEGG, 3Cell Signaling Technology
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Pathways related to urticaria pigmentosa according to GeneDecks:

(show all 34)
idPathwayScoreTop Affiliating Genes
1Melanocyte Development and Pigmentation369.7KIT, KITLG
2Development_EPO-induced MAPK pathway419.6KITLG, KIT
3Development EPO-induced MAPK pathway109.5KITLG, KIT
4Hematopoietic cell lineage209.4KIT, KITLG, IL2RA
5Tyrosine Kinases / Adaptors39.4KIT, KITLG, IL2RA
6Lymphocyte Signaling39.4IL2RA, KITLG, KIT
7Apoptotic Pathways in Synovial Fibroblasts369.4KIT, KITLG, IL2RA
8p53 Mediated Apoptosis369.4IL2RA, KITLG, KIT
9Telomerase Components in Cell Signaling369.4KIT, KITLG, IL2RA
10Mitochondrial Apoptosis369.4IL2RA, KITLG, KIT
11DHA Signaling369.4KIT, KITLG, IL2RA
12ERK5 Signaling369.3IL2RA, KITLG, KIT
13Cellular Apoptosis Pathway369.3KIT, KITLG, IL2RA
14PPAR Pathway369.3IL2RA, KITLG, KIT
15eIF2 Pathway369.3KIT, KITLG, IL2RA
16Nuclear Receptor Activation by Vitamin-A369.3IL2RA, KITLG, KIT
17Rac1 Pathway369.3KIT, KITLG, IL2RA
18Actin-Based Motility by Rho Family GTPases369.3IL2RA, KITLG, KIT
19p70S6K Signaling369.3KIT, KITLG, IL2RA
20Activation of PKC through GPCR369.3IL2RA, KITLG, KIT
21Renin-Angiotensin Pathway369.3KIT, KITLG, IL2RA
22Cytokine-cytokine receptor interaction209.3IL2RA, KITLG, KIT
23CREB Pathway369.3KIT, KITLG, IL2RA
24PTEN Pathway369.3IL2RA, KITLG, KIT
25PAK Pathway369.2KIT, KITLG, IL2RA
26JNK Pathway369.2IL2RA, KITLG, KIT
27JAK-STAT Pathway369.2KIT, KITLG, IL2RA
28Breast Cancer Regulation by Stathmin1369.2IL2RA, KITLG, KIT
29Phospholipase-C Pathway369.2KIT, KITLG, IL2RA
30Antioxidant Action of Vitamin-C369.1IL2RA, KITLG, KIT
31p38 Signaling369.1KIT, KITLG, IL2RA
32cAMP Pathway369.0KIT, KITLG, IL2RA
33MAPK Signaling368.9KIT, KITLG, IL2RA
34Akt Signaling368.7IL2RA, KITLG, KIT

Compounds for genes affiliated with Urticaria Pigmentosa

Sources:
32Novoseek , 34PharmGKB, 9DrugBank, 42Tocris Bioscience, 18HMDB
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Compounds related to urticaria pigmentosa according to GeneDecks:

(show all 19)
idCompoundScoreTop Affiliating Genes
1monochloroacetic acid32 9.8KIT, KITLG
2ag-129632 9.8KIT, KITLG
3toluidine32 9.8KITLG, KIT
4su541632 9.8KITLG, KIT
5as 10132 9.7KITLG, IL2RA
6rhodamine 12332 34 10.7KIT, KITLG
72-chlorodeoxyadenosine32 9.6IL2RA, KIT
8methylcellulose32 9.5KIT, KITLG
9chloroquine32 34 9 9 12.5KIT, IL2RA
10gp 13032 9.3IL2RA, KITLG, KIT
11methotrexate32 34 42 9 9 13.2KIT, KITLG, IL2RA
125fluorouracil32 9.2IL2RA, KITLG, KIT
13paclitaxel32 34 9 9 12.2KIT, KITLG, IL2RA
14rapamycin32 42 10.1IL2RA, KITLG, KIT
15doxorubicin32 34 9 9 12.1KIT, KITLG, IL2RA
16thymidine32 18 9.9IL2RA, KITLG, KIT
17histamine32 18 9.7KIT, KITLG, CMA1, IL2RA
18paraffin32 8.7IL2RA, CMA1, KITLG, KIT
19heparin32 9 18 9 11.5KITLG, CMA1, IL2RA

GO Terms for genes affiliated with Urticaria Pigmentosa

Sources:
12Gene Ontology
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Biological processes related to urticaria pigmentosa according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1germ cell programmed cell deathGO:0352349.6KIT, KITLG
2embryonic hemopoiesisGO:0351629.5KIT, KITLG
3male gonad developmentGO:0085849.5KIT, KITLG
4ovarian follicle developmentGO:0015419.4KITLG, KIT
5hemopoiesisGO:0300979.2KIT, KITLG

Sources for Urticaria Pigmentosa

2CDC
11FMA
18HMDB
19ICD9CM
20KEGG
24MeSH
25MGI
27NCIt
28NDF-RT
31NINDS
32Novoseek
33OMIM
35PubMed
36QIAGEN
43UMLS