Mastocytosis, Cutaneous (MASTC)

Alias:
Urticaria Pigmentosa
Cutaneous Mastocytosis
Diffuse Cutaneous Mastocytosis
Maculopapular Cutaneous Mastocytosis
Mastocytosis, Diffuse Cutaneous
Diffuse Cutaneous Maculopapulous Mastocytosis
Mastocytosis, Maculopapular Cutaneous
Mastocytosis, Systemic, Somatic
Mast Cell Disease
Mastocytosis
Mastc
Dcm
Mastocytosis with Associated Hematologic Disorder
Mastocytosis, Systemic
Mastocytosis, Indolent
Mast Cell Neoplasm
Benign Mastocytoma
Mast Cell Leukemia
Mast-Cell Disease
Mastocytoma
Up/mpcm
Mastsys
Cm
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Mastocytosis, Cutaneous, also known as urticaria pigmentosa, is related to extracutaneous mastocytoma and sm-ahnmd, and has symptoms including exanthema, pruritus and macule. An important gene associated with Mastocytosis, Cutaneous is KIT (KIT Proto-Oncogene, Receptor Tyrosine Kinase), and among its related pathways/superpathways are Infectious disease and Innate Immune System. The drugs Imatinib Mesylate and Omalizumab have been mentioned in the context of this disorder. Affiliated tissues include skin and spleen, and related phenotypes are generalized abnormality of skin and pruritus
Related ID:
MESH:D008415
ICD11:1300710062

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Child
<1/1000000
20
334
31

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
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