Maculopapular cutaneous mastocytosis
disease diseaseOn this page
Also known as Paucicellular mastocytosistelangiectasia macularis eruptive perstanstelangiectatic cutaneous mastocytosisUP/MPCMurticaria pigmentosaurticaria pigmentosa/maculopapular cutaneous mastocytosis
Summary
Maculopapular cutaneous mastocytosis (MONDO:0019316) is a disease and 3 clinical trials. A subtype of cutaneous mastocytosis — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: Unknown (Worldwide)
- Phenotypes (HPO): 21
- Clinical trials: 3
Clinical features
Signs & symptoms
Clinical features (HPO)
21 HPO clinical features (Orphanet curated; top 21 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0011354 | Generalized abnormality of skin | Very frequent (80-99%) |
| HP:0025081 | Darier’s sign | Very frequent (80-99%) |
| HP:0000989 | Pruritus | Frequent (30-79%) |
| HP:0010783 | Erythema | Frequent (30-79%) |
| HP:0012733 | Macule | Frequent (30-79%) |
| HP:0025507 | Yellow papule | Frequent (30-79%) |
| HP:0000737 | Irritability | Occasional (5-29%) |
| HP:0001945 | Fever | Occasional (5-29%) |
| HP:0002013 | Vomiting | Occasional (5-29%) |
| HP:0002014 | Diarrhea | Occasional (5-29%) |
| HP:0002018 | Nausea | Occasional (5-29%) |
| HP:0002027 | Abdominal pain | Occasional (5-29%) |
| HP:0002315 | Headache | Occasional (5-29%) |
| HP:0002653 | Bone pain | Occasional (5-29%) |
| HP:0008066 | Abnormal blistering of the skin | Occasional (5-29%) |
| HP:0011971 | Dermatographic urticaria | Occasional (5-29%) |
| HP:0020172 | Adverse drug response | Occasional (5-29%) |
| HP:0031284 | Flushing | Occasional (5-29%) |
| HP:0031901 | Increased serum mast cell beta-tryptase concentration | Occasional (5-29%) |
| HP:0100845 | Anaphylactic shock | Very rare (<1-4%) |
| HP:0002094 | Dyspnea | Very rare (<1-4%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | maculopapular cutaneous mastocytosis |
| Mondo ID | MONDO:0019316 |
| EFO | EFO:1001229 |
| Orphanet | 79457 |
| DOID | DOID:12309 |
| ICD-11 | 245322245 |
| NCIT | C3433 |
| SNOMED CT | 78745000 |
| UMLS | C0042111 |
| MedGen | 22588 |
| GARD | 0016723 |
| MedDRA | 10046752 |
| Is cancer (heuristic) | no |
Also known as: Paucicellular mastocytosis · telangiectasia macularis eruptive perstans · telangiectatic cutaneous mastocytosis · UP/MPCM · urticaria pigmentosa · urticaria pigmentosa/maculopapular cutaneous mastocytosis
Data availability: 1 cell line.
Disease family
This is a subtype of cutaneous mastocytosis. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by etiologic mechanism › cancer or benign tumor › neoplastic disease or syndrome › neoplasm › skin neoplasm › dermis tumor › cutaneous mastocytosis › maculopapular cutaneous mastocytosis
Related subtypes (2): cutaneous mastocytoma, diffuse cutaneous mastocytosis
Subtypes (4): typical urticaria pigmentosa, plaque-form urticaria pigmentosa, nodular urticaria pigmentosa, telangiectasia macularis eruptiva perstans
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
No tiered GWAS variants or ClinVar records for this disease.
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 3.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 3 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT00467792 | Not specified | COMPLETED | Natural History of Urticaria Pigmentosa in Children |
| NCT02761473 | Not specified | COMPLETED | Cutaneous Mastocytosis in Children: Analysis of Somatic and Germline Mutations |
| NCT04978740 | Not specified | COMPLETED | Ocular and Palpebral Manifestations of Mastocytosis (MOOMA) |
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.