MCID: URT008
MIFTS: 47

Urticaria Pigmentosa malady

Cancer diseases, Blood diseases categories

Summaries for Urticaria Pigmentosa

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66Wikipedia, 48OMIM, 34MalaCards
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Wikipedia:66 Urticaria pigmentosa (also known as \"Generalized eruption of cutaneous mastocytosis (childhood type)\"... more...

MalaCards: Urticaria Pigmentosa, also known as up/mpcm, is related to mastocytosis and systemic mastocytosis. 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 Endocytosis and Melanocyte Development and Pigmentation. The compounds 2-chlorodeoxyadenosine and chloroquine have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and bone marrow, and related mouse phenotypes are digestive/alimentary and hematopoietic system.

Description from OMIM:48 154800

Aliases & Classifications for Urticaria Pigmentosa

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9Disease Ontology, 46Novoseek, 63UMLS, 48OMIM, 59SNOMED-CT, 36MeSH, 41NCIt
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Cancer diseases
Anatomical: Blood diseases


Aliases & Descriptions:

urticaria pigmentosa 9 46 63
up/mpcm 9


External Ids:

Disease Ontology9 DOID:12309
OMIM48 154800
SNOMED-CT59 78745000, 205566001
MeSH36 D014582
NCIt41 C3433

Related Diseases for Urticaria Pigmentosa

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18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Urticaria Pigmentosa:



Diseases related to urticaria pigmentosa

Symptoms for Urticaria Pigmentosa

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48OMIM
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Clinical features from OMIM:

154800

Drugs & Therapeutics for Urticaria Pigmentosa

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Urticaria Pigmentosa

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Anatomical Context for Urticaria Pigmentosa

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34MalaCards
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MalaCards organs/tissues related to Urticaria Pigmentosa:

34
Skin, Bone, Bone marrow, Smooth muscle, Thyroid, Testes, Monocytes

Animal Models for Urticaria Pigmentosa or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Urticaria Pigmentosa:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.8IL2RA, KIT, KITLG
2MP:00053977.9CMA1, IL2RA, KIT, KITLG
3MP:00053877.7CMA1, IL2RA, KIT, KITLG

Publications for Urticaria Pigmentosa

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53PubMed
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Articles related to Urticaria Pigmentosa:

(show top 50)    (show all 352)
idTitleAuthorsYear
1
Familial urticaria pigmentosa: report of a family and review of the role of KIT mutations. (22892471)
2013
2
Cutaneous mastocytosis in twins: multiple mastocytomas and urticaria pigmentosa in two pairs of monozygotic twins. (21385209)
2011
3
Generalized brownish macules in infancy. Urticaria pigmentosa. (19873965)
2009
4
Anaphylaxis to insect sting associated with urticaria pigmentosa. (12866320)
2003
5
Scabies incognito presenting as urticaria pigmentosa in an infant. (12383096)
2002
6
An infant with urticaria pigmentosa and rickets. (12027094)
2002
7
Acute lymphoblastic leukemia and urticaria pigmentosa in an infant. (10797364)
2000
8
Lack of c-kit mutation in familial urticaria pigmentosa. (10354021)
1999
9
Urticaria pigmentosa: a clinical, hematopathologic, and serologic study of 30 adults. (9495199)
1998
10
Urticaria pigmentosa (mastocytosis). (9707879)
1998
11
Urticaria pigmentosa presenting with massive peripheral eosinophilia. (9263309)
1997
12
Urticaria pigmentosa mimicking xanthoma disseminatum. (20952937)
1995
13
Urticaria pigmentosa and acute lymphoblastic leukaemia. (7562854)
1995
14
Determination of the primary structures of human skin chymase and cathepsin G from cutaneous mast cells of urticaria pigmentosa lesions. (8144971)
1994
15
Urticaria pigmentosa in monozygotic twins. (8024286)
1994
16
What is your diagnosis? Urticaria pigmentosa. (2222680)
1990
17
Histamine release from skin mast cells and basophils in patients with urticaria pigmentosa. (1690493)
1990
18
Immunohistochemical localization of somatostatin-like immunoreactivity in skin lesions from patients with urticaria pigmentosa. (6206641)
1984
19
A double-blind cross-over study of the effect of ketotifen in urticaria pigmentosa. (6341102)
1983
20
Urticaria pigmentosa. Case presentation and discussion. (915191)
1977
21
Urticaria pigmentosa. (1010614)
1976
22
Juvenile xanthogranuloma and urticaria pigmentosa. (804295)
1975
23
Solitary mast cell tumor. Progression to disseminated urticaria pigmentosa in a negro infant. (4973469)
1969
24
Mastocytosis (urticaria pigmentosa) of skin, stomach, and gut with malabsorption. (6034728)
1967
25
Histamine release from the skin of patients with cutaneous mast cell disease (urticaria pigmentosa). (4162559)
1966
26
Urticaria pigmentosa. Age of onset and prognosis. (13938746)
1962
27
Urticaria pigmentosa, effects of reserpine. (13711436)
1961
28
Urticaria pigmentosa with generalized tissue mastocytosis and blood basophilia. (13794652)
1960
29
Urticaria pigmentosa with visceral and skeletal lesions. (13852143)
1959
30
The remarkable tissue mast cells; with observations on mast cell acid polysaccharides in the cutaneous lesions of urticaria pigmentosa. (13808638)
1959
31
Histamine and related compounds in urticaria pigmentosa: analyses of tissues having mast-cell infiltration. (13542126)
1958
32
Osseous lesions in urticaria pigmentosa. (13388029)
1957
33
Bullous urticaria pigmentosa; summary of literature and report of two cases. (14375388)
1955
34
Urticaria pigmentosa. (13029935)
1953
35
Urticaria pigmentosa associated with bone lesions; a survey and report of eight cases. (12981299)
1952
36
Urticaria pigmentosa. (15433453)
1950
37
Urticaria pigmentosa of 15 years' duration in a woman aged 41. (14770546)
1950
38
Hydroa puerorum? urticaria pigmentosa. (18135864)
1949
39
A case for diagnosis; urticaria pigmentosa? histiocytoma? (18098690)
1948
40
URTICARIA pigmentosa]. (21027907)
1946
41
Urticaria Pigmentosa, Adult Type. (19992934)
1944
42
Urticaria Pigmentosa in an Adult (Telangiectasia Macularis Eruptiva Perstans, Barber and Parkes Weber Type). (19992635)
1943
43
Urticaria Pigmentosa with Unusual Atrophy, in an Adult. (19992636)
1943
44
Urticaria Pigmentosa with Slight Telangiectasia. (19989584)
1933
45
Urticaria Pigmentosa Nodulosa. (19987805)
1930
46
REPORT OF A CASE OF URTICARIA PIGMENTOSA IN A YOUNG ADULT. (18740130)
1926
47
Urticaria Pigmentosa in an Adult. (19982867)
1923
48
Urticaria Pigmentosa. (19980941)
1920
49
Case of Urticaria Pigmentosa. (19980755)
1919
50
Urticaria Pigmentosa of the Macular Type in an Infant. (19974945)
1911

Variations for Urticaria Pigmentosa

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Expression for genes affiliated with Urticaria Pigmentosa

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Urticaria Pigmentosa

Search GEO for disease gene expression data for Urticaria Pigmentosa.

Pathways for genes affiliated with Urticaria Pigmentosa

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Sources:
51PathCards, 31KEGG, 54QIAGEN, 39NCBI BioSystems Database, 61Thomson Reuters, 56Reactome, 5Cell Signaling Technology
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Pathways related to Urticaria Pigmentosa according to GeneCards/GeneDecks:

(show all 23)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4KIT, IL2RA
29.3KITLG, KIT
39.3KITLG, KIT
4
Show member pathways
Signaling events mediated by Stem cell factor receptor (c-Kit)39
9.3KITLG, KIT
5
Show member pathways
9.3KITLG, KIT
6
Show member pathways
Development EDNRB signaling61
Development ACM2 and ACM4 activation of ERK61
Cell adhesion Integrin inside out signaling61
Development G Proteins mediated regulation MARK ERK signaling61
Signal transduction IP3 signaling61
Development Angiotensin signaling via PYK261
Development EPO induced MAPK pathway61
9.3KITLG, KIT
7
Show member pathways
9.3KITLG, KIT
8
Show member pathways
8.8IL2RA, KIT, KITLG
9
Show member pathways
8.8KITLG, KIT, IL2RA
10
Show member pathways
8.8IL2RA, KIT, KITLG
11
Show member pathways
8.8KITLG, KIT, IL2RA
12
Show member pathways
8.8IL2RA, KIT, KITLG
13
Show member pathways
8.8KITLG, KIT, IL2RA
148.8KITLG, KIT, IL2RA
158.8IL2RA, KIT, KITLG
168.8KITLG, KIT, IL2RA
17
Show member pathways
8.8IL2RA, KIT, KITLG
18
Show member pathways
8.8KITLG, KIT, IL2RA
19
Show member pathways
8.8KITLG, KIT, IL2RA
208.8KITLG, KIT, IL2RA
21
Show member pathways
8.8IL2RA, KIT, KITLG
22
Show member pathways
8.8IL2RA, KIT, KITLG
23
Show member pathways
8.5KITLG, KIT, CMA1

Compounds for genes affiliated with Urticaria Pigmentosa

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46Novoseek, 3BitterDB, 52PharmGKB, 30IUPHAR, 12DrugBank, 62Tocris Bioscience, 25HMDB
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Compounds related to Urticaria Pigmentosa according to GeneCards/GeneDecks:

(show all 43)
idCompoundScoreTop Affiliating Genes
12-chlorodeoxyadenosine469.8IL2RA, KIT
2chloroquine46 3 52 30 1213.8KIT, IL2RA
3monochloroacetic acid469.8KITLG, KIT
4vincristine46 52 1211.8IL2RA, KIT
5ag-1296469.8KITLG, KIT
6su5416469.7KIT, KITLG
7toluidine469.7KIT, KITLG
8rhodamine 12346 5210.7KIT, KITLG
9as 10146 6210.7IL2RA, KITLG
10methylcellulose469.7KIT, KITLG
11formaldehyde46 2510.7IL2RA, KIT
12hydroxyurea46 52 1211.7KIT, KITLG
13cytarabine46 52 1211.6KITLG, KIT
14prednisolone46 30 1211.6IL2RA, KITLG
15gold469.6KIT, KITLG
16agarose469.6KIT, KITLG
17herbimycin a46 6210.6IL2RA, KITLG
18imatinib46 52 1211.6KITLG, KIT
19cyclophosphamide46 52 1211.5IL2RA, KITLG
20calcitriol46 62 25 1212.5IL2RA, KITLG
21aspirin46 52 30 2512.5IL2RA, KITLG
22gnrh469.4IL2RA, KITLG
23rantes469.4KITLG, IL2RA
24epinephrine46 25 1211.3KITLG, IL2RA
25polysaccharide469.3KITLG, IL2RA
26gp 130469.2KITLG, IL2RA, KIT
27methotrexate52 46 1211.2KIT, KITLG, IL2RA
28ribonucleic acid469.2KITLG, KIT
295fluorouracil469.2KIT, IL2RA, KITLG
30paclitaxel46 52 1211.2KIT, IL2RA, KITLG
31rapamycin469.2KIT, IL2RA, KITLG
32doxorubicin46 52 1211.2KITLG, IL2RA, KIT
33thymidine46 2510.2KIT, IL2RA, KITLG
34testosterone46 62 25 1212.2IL2RA, KITLG, KIT
35steroid469.2IL2RA, KITLG, KIT
36vegf469.2IL2RA, KIT, KITLG
37phosphatidylinositol469.2KIT, IL2RA, KITLG
38estrogen469.1KITLG, IL2RA, KIT
39cysteine468.9IL2RA, CMA1, KIT
40heparin46 30 25 1211.9IL2RA, CMA1, KITLG
41histamine46 30 2510.4KITLG, CMA1, KIT, IL2RA
42paraffin468.4KITLG, CMA1, KIT, IL2RA
43serine468.2CMA1, KIT, KITLG

GO Terms for genes affiliated with Urticaria Pigmentosa

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17Gene Ontology
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Cellular components related to Urticaria Pigmentosa according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1external side of plasma membraneGO:0098979.4KIT, IL2RA

Biological processes related to Urticaria Pigmentosa according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1ectopic germ cell programmed cell deathGO:0352349.5KITLG, KIT
2embryonic hemopoiesisGO:0351629.5KITLG, KIT
3male gonad developmentGO:0085849.4KITLG, KIT
4phosphatidylinositol-mediated signalingGO:0480159.4KITLG, KIT
5fibroblast growth factor receptor signaling pathwayGO:0085439.3KIT, KITLG
6neurotrophin TRK receptor signaling pathwayGO:0480119.3KITLG, KIT
7Fc-epsilon receptor signaling pathwayGO:0380959.2KITLG, KIT
8epidermal growth factor receptor signaling pathwayGO:0071739.0KITLG, KIT

Products for genes affiliated with Urticaria Pigmentosa

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Sources for Urticaria Pigmentosa

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet