Bullous diffuse cutaneous mastocytosis

Summary

Bullous diffuse cutaneous mastocytosis (MONDO:0017243) is a disease. A subtype of diffuse cutaneous mastocytosis — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
• Phenotypes (HPO): 7

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		40	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

7 HPO clinical features (Orphanet curated; top 7 by frequency):

HPO ID	Term	Frequency
HP:0000989	Pruritus	Very frequent (80-99%)
HP:0001019	Erythroderma	Very frequent (80-99%)
HP:0001025	Urticaria	Very frequent (80-99%)
HP:0005587	Profuse pigmented skin lesions	Very frequent (80-99%)
HP:0008066	Abnormal blistering of the skin	Very frequent (80-99%)
HP:0200151	Cutaneous mastocytosis	Very frequent (80-99%)
HP:0006543	Cardiorespiratory arrest	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	bullous diffuse cutaneous mastocytosis
Mondo ID	MONDO:0017243
Orphanet	280785
ICD-11	227748867
UMLS	C5546764
MedGen	1781582
GARD	0021088
Is cancer (heuristic)	no

Also known as: bullous DCM

Disease family

This is a subtype of diffuse 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 › diffuse cutaneous mastocytosis › bullous diffuse cutaneous mastocytosis

Related subtypes (1): pseudoxanthomatous diffuse cutaneous mastocytosis

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: 0.