MCID: URT008
MIFTS: 39

Urticaria Pigmentosa malady

Category: Blood diseases

Aliases & Classifications for Urticaria Pigmentosa

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Aliases & Descriptions for Urticaria Pigmentosa:

Name: Urticaria Pigmentosa 10 47 12 36 65
 
Up/mpcm 10

Classifications:



External Ids:

Disease Ontology10 DOID:12309
ICD1027 Q82.2
MeSH36 D014582
NCIt42 C3433
UMLS65 C0042111

Summaries for Urticaria Pigmentosa

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Wikipedia:68 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 megalocornea and mast cell neoplasm, and has symptoms including instillation site urticaria, darier's sign and macule. An important gene associated with Urticaria Pigmentosa is KIT (KIT Proto-Oncogene Receptor Tyrosine Kinase), and among its related pathways are C-MYB transcription factor network and Regulation of KIT signaling. Affiliated tissues include skin, prostate and bone.

Related Diseases for Urticaria Pigmentosa

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

(show top 50)    (show all 96)
idRelated DiseaseScoreTop Affiliating Genes
1megalocornea30.3KIT, KITLG
2mast cell neoplasm28.9CMA1, FIP1L1, KIT, KITLG
3nodular urticaria pigmentosa12.1
4plaque-form urticaria pigmentosa12.0
5typical urticaria pigmentosa12.0
6maculopapular cutaneous mastocytosis11.6
7urticaria11.1
8cutaneous mastocytosis10.7
9mastocytosis10.6
10exencephaly10.4KIT, KITLG
11systemic mastocytosis10.4
12multiple chemical sensitivity10.3KIT, KITLG
13waardenburg's syndrome10.3KIT, KITLG
14total anomalous pulmonary venous return10.2KIT, KITLG
15vesicoureteral reflux10.2KIT, KITLG
16benign deep fibrous histiocytoma10.2HAVCR1, KITLG
17acantholytic squamous cell skin carcinoma10.2KIT, KITLG
18mast cell disease10.2
19leukemia10.2
20telangiectasia macularis eruptiva perstans10.2
21aggressive systemic mastocytosis10.2FIP1L1, KIT
22osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome10.1FIP1L1, KIT
23microphthalmia, syndromic 410.1KIT, KITLG
24chromosome 3q29 microduplication syndrome10.1CMA1, FIP1L1
25osteoporosis10.1
26juvenile xanthogranuloma10.1
27monoclonal mast cell activation syndrome10.0
28olfactory nerve disease10.0CMA1, KIT, KITLG
29diffuse cutaneous mastocytosis10.0CMA1, KIT, KITLG
30pericardial tuberculosis10.0KIT, KITLG
31asthma10.0
32gastroesophageal reflux10.0
33lymphoblastic leukemia10.0
34syringoma10.0
35dermatitis10.0
36indolent systemic mastocytosis10.0
37scabies10.0
38eosinophilia10.0
39hypereosinophilic syndrome, idiopathic, resistant to imatinib10.0IFNA2, KIT
40filarial elephantiasis10.0CMA1, IFNA2
41malignant fibroxanthoma9.9IFNA2, KIT
42gallbladder leiomyosarcoma9.9IFNA2, KIT
43urinary bladder small cell neuroendocrine carcinoma9.9IFNA2, IL2RA
44hematopoietic stem cell transplantation9.9IL2RA, KIT, KITLG
45gastrointestinal stromal tumor9.8
46atopy9.8
47celiac disease9.8
48multiple myeloma9.8
49incontinentia pigmenti9.8
50keloids9.8

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



Diseases related to urticaria pigmentosa

Symptoms for Urticaria Pigmentosa

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UMLS symptoms related to Urticaria Pigmentosa:


instillation site urticaria, darier's sign, macule, welts

Drugs & Therapeutics for Urticaria Pigmentosa

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Ultraviolet (UVA and UVB) Light Therapy in the Treatment of Inflammatory Skin ConditionsTerminatedNCT00129415Phase 1, Phase 2
2Natural History of Urticaria Pigmentosa in ChildrenCompletedNCT00467792
3Cause and Natural Course of Pediatric-Onset MastocytosisCompletedNCT00050193
4Cytokine Production Patterns in Patients With Systemic Mastocytosis Compared With Atopic Dermatitis and Healthy IndividualsCompletedNCT00001760
5Mast Cell Connect: A Registry for Patients With MastocytosisRecruitingNCT02620254
6Study of Factors Regulating Mast Cell ProliferationRecruitingNCT00044122
7Cutaneous Mastocytosis in Children: Analysis of Somatic and Germline MutationsNot yet recruitingNCT02761473

Search NIH Clinical Center for Urticaria Pigmentosa


Cochrane evidence based reviews: 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:

33
Skin, Prostate, Bone, Liver, Kidney, Breast, Ovary

Animal Models for Urticaria Pigmentosa or affiliated genes

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MGI Mouse Phenotypes related to Urticaria Pigmentosa:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

Publications for Urticaria Pigmentosa

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Articles related to Urticaria Pigmentosa:

(show top 50)    (show all 371)
idTitleAuthorsYear
1
Telangiectasia macularis eruptiva perstans or highly vascularized urticaria pigmentosa? (25439382)
2014
2
Familial urticaria pigmentosa: report of a family and review of the role of KIT mutations. (22892471)
2013
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
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 Slight Telangiectasia. (19989584)
1933
44
Urticaria Pigmentosa Nodulosa. (19987805)
1930
45
REPORT OF A CASE OF URTICARIA PIGMENTOSA IN A YOUNG ADULT. (18740130)
1926
46
Urticaria Pigmentosa in an Adult. (19982867)
1923
47
Urticaria Pigmentosa. (19980941)
1920
48
Case of Urticaria Pigmentosa. (19980755)
1919
49
Urticaria Pigmentosa of the Macular Type in an Infant. (19974945)
1911
50

Variations for Urticaria Pigmentosa

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Expression for genes affiliated with Urticaria Pigmentosa

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Search GEO for disease gene expression data for Urticaria Pigmentosa.

Pathways for genes affiliated with Urticaria Pigmentosa

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GO Terms for genes affiliated with Urticaria Pigmentosa

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Biological processes related to Urticaria Pigmentosa according to GeneCards Suite gene sharing:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of MAP kinase activityGO:004340610.1KIT, KITLG
2phosphatidylinositol-mediated signalingGO:004801510.1KIT, KITLG
3phosphatidylinositol phosphorylationGO:004685410.1KIT, KITLG
4ovarian follicle developmentGO:000154110.0KIT, KITLG
5positive regulation of tyrosine phosphorylation of Stat3 proteinGO:00425179.9IFNA2, KIT
6fibroblast growth factor receptor signaling pathwayGO:00085439.5IL2RA, KIT, KITLG
7positive regulation of GTPase activityGO:00435479.2IL2RA, KIT, KITLG
8activation of MAPKK activityGO:00001869.1IL2RA, KIT, KITLG
9vascular endothelial growth factor receptor signaling pathwayGO:00480109.0IL2RA, KIT, KITLG
10insulin receptor signaling pathwayGO:00082868.8IL2RA, KIT, KITLG
11inflammatory responseGO:00069548.8IFNA2, IL2RA, KIT

Sources for Urticaria Pigmentosa

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet