MCID: URT008
MIFTS: 47

Urticaria Pigmentosa malady

Blood diseases category
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Summaries for Urticaria Pigmentosa

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Wikipedia:65 Urticaria pigmentosa (also known as \"Generalized eruption of cutaneous mastocytosis (childhood type)\"... more...

MalaCards based summary: Urticaria Pigmentosa, also known as up/mpcm, is related to systemic mastocytosis and 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:46 154800

Aliases & Classifications for Urticaria Pigmentosa

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Sources:
8Disease Ontology, 44Novoseek, 62UMLS, 39NCIt, 57SNOMED-CT, 34MeSH, 46OMIM
See all sources

Urticaria Pigmentosa, Aliases & Descriptions:

Name: Urticaria Pigmentosa 8 44 62
 
Up/mpcm 8


Classifications:

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


External Ids:

Disease Ontology8 DOID:12309
NCIt39 C3433
SNOMED-CT57 205566001, 78745000
MeSH34 D014582
OMIM46 154800

Related Diseases for Urticaria Pigmentosa

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Diseases related to Urticaria Pigmentosa via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 79)
idRelated DiseaseScoreTop Affiliating Genes
1systemic mastocytosis31.1KITLG, KIT
2mastocytosis30.7CMA1, IL2RA, KIT, KITLG
3leukemia30.4KITLG, KIT, IL2RA
4neurofibroma30.3KITLG, KIT
5acute lymphoblastic leukemia30.3KITLG, KIT
6polycythemia vera30.3KIT, KITLG
7gastrointestinal stromal tumor30.3KITLG, KIT
8asthma30.0CMA1, IL2RA, KITLG
9psoriasis30.0IL2RA, CMA1
10mast cell neoplasm29.8CMA1, KIT, KITLG
11urticaria11.4
12cutaneous mastocytosis10.5
13osteoporosis10.3
14juvenile xanthogranuloma10.3
15nodular urticaria pigmentosa10.3
16syringoma10.2
17dermatitis10.2
18lymphoblastic leukemia10.2
19scabies10.2
20plaque-form urticaria pigmentosa10.2
21typical urticaria pigmentosa10.2
22hypereosinophilic syndrome10.2KIT, IL2RA
23piebaldism10.1KITLG, KIT
24dysgerminoma10.1KITLG, KIT
25refractory anemia10.1KIT, KITLG
26pdgfrb-associated chronic eosinophilic leukemia10.1KITLG, KIT
27hemorrhagic thrombocythemia10.1KIT, KITLG
28gamma chain deficiency10.1IL2RA, KITLG
29leukemia, acute lymphoblastic 310.1KITLG, KIT
30neurofibromatosis10.1KITLG, KIT
31severe combined immunodeficiency10.1KITLG, IL2RA
32celiac disease10.1
33keloids10.1
34multiple myeloma10.1
35myelofibrosis10.1
36skin disease10.1
37wilms tumor10.1
38lichen planus10.1
39thrombocytosis10.1
40mast-cell leukemia10.1
41indolent systemic mastocytosis10.1
42parapsoriasis10.1
43otosclerosis10.1
44rickets10.1
45gastroesophageal reflux disease10.1
46amyloidosis10.1
47dermatophytosis10.1
48fibrosarcoma10.1
49goiter10.1
50histiocytoma10.1

Graphical network of the top 20 diseases related to Urticaria Pigmentosa:



Diseases related to urticaria pigmentosa

Symptoms for Urticaria Pigmentosa

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Clinical features from OMIM:

154800

Drugs & Therapeutics for Urticaria Pigmentosa

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Drug clinical trials:

Search ClinicalTrials for Urticaria Pigmentosa

Search NIH Clinical Center for Urticaria Pigmentosa

Genetic Tests for Urticaria Pigmentosa

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Anatomical Context for Urticaria Pigmentosa

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MalaCards organs/tissues related to Urticaria Pigmentosa:

32
Skin, Bone, Bone marrow, Smooth muscle, Thyroid, Testes, Monocytes

Animal Models for Urticaria Pigmentosa or affiliated genes

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MGI Mouse Phenotypes related to Urticaria Pigmentosa:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.8KITLG, KIT, IL2RA
2MP:00053977.9KITLG, KIT, IL2RA, CMA1
3MP:00053877.7CMA1, IL2RA, KIT, KITLG

Publications for Urticaria Pigmentosa

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Articles related to Urticaria Pigmentosa:

(show top 50)    (show all 360)
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 mimicking xanthoma disseminatum. (20952937)
1995
12
Urticaria pigmentosa and acute lymphoblastic leukaemia. (7562854)
1995
13
Determination of the primary structures of human skin chymase and cathepsin G from cutaneous mast cells of urticaria pigmentosa lesions. (8144971)
1994
14
Urticaria pigmentosa in monozygotic twins. (8024286)
1994
15
What is your diagnosis? Urticaria pigmentosa. (2222680)
1990
16
Histamine release from skin mast cells and basophils in patients with urticaria pigmentosa. (1690493)
1990
17
Immunohistochemical localization of somatostatin-like immunoreactivity in skin lesions from patients with urticaria pigmentosa. (6206641)
1984
18
A double-blind cross-over study of the effect of ketotifen in urticaria pigmentosa. (6341102)
1983
19
Urticaria pigmentosa. Case presentation and discussion. (915191)
1977
20
Urticaria pigmentosa. (1010614)
1976
21
Juvenile xanthogranuloma and urticaria pigmentosa. (804295)
1975
22
Solitary mast cell tumor. Progression to disseminated urticaria pigmentosa in a negro infant. (4973469)
1969
23
Mastocytosis (urticaria pigmentosa) of skin, stomach, and gut with malabsorption. (6034728)
1967
24
Histamine release from the skin of patients with cutaneous mast cell disease (urticaria pigmentosa). (4162559)
1966
25
Urticaria pigmentosa. Age of onset and prognosis. (13938746)
1962
26
Urticaria pigmentosa, effects of reserpine. (13711436)
1961
27
Urticaria pigmentosa with generalized tissue mastocytosis and blood basophilia. (13794652)
1960
28
Urticaria pigmentosa with visceral and skeletal lesions. (13852143)
1959
29
The remarkable tissue mast cells; with observations on mast cell acid polysaccharides in the cutaneous lesions of urticaria pigmentosa. (13808638)
1959
30
Histamine and related compounds in urticaria pigmentosa: analyses of tissues having mast-cell infiltration. (13542126)
1958
31
Osseous lesions in urticaria pigmentosa. (13388029)
1957
32
Bullous urticaria pigmentosa; summary of literature and report of two cases. (14375388)
1955
33
Urticaria pigmentosa. (13029935)
1953
34
Urticaria pigmentosa associated with bone lesions; a survey and report of eight cases. (12981299)
1952
35
Urticaria pigmentosa. (15433453)
1950
36
Urticaria pigmentosa of 15 years' duration in a woman aged 41. (14770546)
1950
37
Hydroa puerorum? urticaria pigmentosa. (18135864)
1949
38
A case for diagnosis; urticaria pigmentosa? histiocytoma? (18098690)
1948
39
URTICARIA pigmentosa]. (21027907)
1946
40
Urticaria Pigmentosa, Adult Type. (19992934)
1944
41
Urticaria Pigmentosa in an Adult (Telangiectasia Macularis Eruptiva Perstans, Barber and Parkes Weber Type). (19992635)
1943
42
Urticaria Pigmentosa with Unusual Atrophy, in an Adult. (19992636)
1943
43
Urticaria Pigmentosa with Telangiectasis occurring in an Elderly Adult. (19989723)
1934
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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Expression patterns in normal tissues for genes affiliated with Urticaria Pigmentosa

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Pathways for genes affiliated with Urticaria Pigmentosa

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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)37
9.3KITLG, KIT
5
Show member pathways
9.3KITLG, KIT
6
Show member pathways
Development EDNRB signaling60
Development ACM2 and ACM4 activation of ERK60
Cell adhesion Integrin inside out signaling60
Development G Proteins mediated regulation MARK ERK signaling60
Signal transduction IP3 signaling60
Development Angiotensin signaling via PYK260
Development EPO induced MAPK pathway60
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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Compounds related to Urticaria Pigmentosa according to GeneCards/GeneDecks:

(show all 43)
idCompoundScoreTop Affiliating Genes
12-chlorodeoxyadenosine449.8IL2RA, KIT
2chloroquine44 2 50 28 1113.8KIT, IL2RA
3monochloroacetic acid449.8KITLG, KIT
4vincristine44 50 1111.8KIT, IL2RA
5ag-1296449.8KIT, KITLG
6su5416449.7KITLG, KIT
7toluidine449.7KITLG, KIT
8as 10144 6110.7IL2RA, KITLG
9rhodamine 12344 5010.7KIT, KITLG
10methylcellulose449.7KITLG, KIT
11formaldehyde44 2410.7KIT, IL2RA
12hydroxyurea44 50 1111.7KITLG, KIT
13cytarabine44 50 1111.6KITLG, KIT
14prednisolone44 28 1111.6IL2RA, KITLG
15gold449.6KITLG, KIT
16agarose449.6KIT, KITLG
17herbimycin a44 6110.6KITLG, IL2RA
18imatinib44 50 1111.6KITLG, KIT
19cyclophosphamide44 50 1111.5IL2RA, KITLG
20calcitriol44 61 24 1112.5KITLG, IL2RA
21aspirin44 50 28 2412.5KITLG, IL2RA
22gnrh449.4IL2RA, KITLG
23rantes449.4KITLG, IL2RA
24epinephrine44 24 1111.3KITLG, IL2RA
25polysaccharide449.3KITLG, IL2RA
26gp 130449.2KITLG, KIT, IL2RA
27methotrexate50 44 1111.2IL2RA, KIT, KITLG
28ribonucleic acid449.2KIT, KITLG
295fluorouracil449.2KITLG, KIT, IL2RA
30paclitaxel44 50 1111.2IL2RA, KIT, KITLG
31rapamycin449.2KITLG, KIT, IL2RA
32doxorubicin44 50 1111.2KITLG, KIT, IL2RA
33thymidine44 2410.2KITLG, KIT, IL2RA
34testosterone44 61 24 1112.2KITLG, KIT, IL2RA
35steroid449.2IL2RA, KIT, KITLG
36vegf449.2KITLG, KIT, IL2RA
37phosphatidylinositol449.2IL2RA, KIT, KITLG
38estrogen449.1IL2RA, KIT, KITLG
39cysteine448.9KIT, IL2RA, CMA1
40heparin44 28 24 1111.9CMA1, IL2RA, KITLG
41histamine44 28 2410.4KITLG, KIT, IL2RA, CMA1
42paraffin448.4CMA1, IL2RA, KIT, KITLG
43serine448.2KITLG, KIT, CMA1

GO Terms for genes affiliated with Urticaria Pigmentosa

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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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet