Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease

Summary

Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease (MONDO:0020332) is a disease and 1 clinical trial. A subtype of systemic mastocytosis — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: 1-9 / 100 000 (Europe) [Orphanet-validated]
• Phenotypes (HPO): 45
• Clinical trials: 1

Clinical features

Epidemiology

Prevalence records

1 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Point prevalence	1-9 / 100 000		Europe	Validated

Signs & symptoms

Clinical features (HPO)

45 HPO clinical features (Orphanet curated; top 45 by frequency):

HPO ID	Term	Frequency
HP:0004377	Hematological neoplasm	Very frequent (80-99%)
HP:0012324	Myeloid leukemia	Very frequent (80-99%)
HP:0031901	Increased serum mast cell beta-tryptase concentration	Very frequent (80-99%)
HP:0100494	Abnormal mast cell morphology	Very frequent (80-99%)
HP:0000980	Pallor	Frequent (30-79%)
HP:0000989	Pruritus	Frequent (30-79%)
HP:0001824	Weight loss	Frequent (30-79%)
HP:0001873	Thrombocytopenia	Frequent (30-79%)
HP:0001880	Eosinophilia	Frequent (30-79%)
HP:0001895	Normochromic anemia	Frequent (30-79%)
HP:0001897	Normocytic anemia	Frequent (30-79%)
HP:0001945	Fever	Frequent (30-79%)
HP:0001974	Leukocytosis	Frequent (30-79%)
HP:0002315	Headache	Frequent (30-79%)
HP:0005547	Myeloproliferative disorder	Frequent (30-79%)
HP:0012378	Fatigue	Frequent (30-79%)
HP:0031020	Bone marrow hypercellularity	Frequent (30-79%)
HP:0000939	Osteoporosis	Occasional (5-29%)
HP:0001025	Urticaria	Occasional (5-29%)
HP:0001279	Syncope	Occasional (5-29%)
HP:0001649	Tachycardia	Occasional (5-29%)
HP:0001744	Splenomegaly	Occasional (5-29%)
HP:0002014	Diarrhea	Occasional (5-29%)
HP:0002018	Nausea	Occasional (5-29%)
HP:0002027	Abdominal pain	Occasional (5-29%)
HP:0002086	Abnormality of the respiratory system	Occasional (5-29%)
HP:0002240	Hepatomegaly	Occasional (5-29%)
HP:0002615	Hypotension	Occasional (5-29%)
HP:0002653	Bone pain	Occasional (5-29%)
HP:0002659	Increased susceptibility to fractures	Occasional (5-29%)
HP:0002665	Lymphoma	Occasional (5-29%)
HP:0002716	Lymphadenopathy	Occasional (5-29%)
HP:0002829	Arthralgia	Occasional (5-29%)
HP:0002863	Myelodysplasia	Occasional (5-29%)
HP:0003326	Myalgia	Occasional (5-29%)
HP:0004398	Peptic ulcer	Occasional (5-29%)
HP:0004808	Acute myeloid leukemia	Occasional (5-29%)
HP:0011897	Neutrophilia	Occasional (5-29%)
HP:0012138	Granulocytic hyperplasia	Occasional (5-29%)
HP:0012325	Chronic myelomonocytic leukemia	Occasional (5-29%)
HP:0031284	Flushing	Occasional (5-29%)
HP:0031807	Increased basophil count	Occasional (5-29%)
HP:0005550	Chronic lymphatic leukemia	Very rare (<1-4%)
HP:0006775	Multiple myeloma	Very rare (<1-4%)
HP:0011034	Amyloidosis	Very rare (<1-4%)

Identifiers

Disease identifiers

Field	Value
Canonical name	systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
Mondo ID	MONDO:0020332
EFO	EFO:1000559
Orphanet	98849
DOID	DOID:4797
NCIT	C9284
SNOMED CT	397015000
UMLS	C1301365
MedGen	226985
GARD	0019596
Is cancer (heuristic)	no

Also known as: SM-AHN · SM-AHNMD · SMAHN · systemic mastocytosis with an associated haematological neoplasm · systemic mastocytosis with an associated haematological neoplasm (SM-AHN) · systemic mastocytosis with an associated hematological neoplasm · systemic mastocytosis with an associated hematological neoplasm (SM-AHN) · systemic mastocytosis with associated clonal haematological non-mast-cell lineage disease · systemic mastocytosis with associated clonal hematological non-mast cell lineage disease · systemic mastocytosis with associated clonal hematological non-mast-cell lineage disease · systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease (morphologic abnormality) · systemic mastocytosis with associated hematologic neoplasm

Disease family

This is a subtype of systemic 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 by etiologic mechanism › cancer or benign tumor › neoplastic disease or syndrome › neoplasm › hematopoietic and lymphoid system neoplasm › hematopoietic and lymphoid cell neoplasm › myeloid neoplasm › mast cell neoplasm › mastocytosis › systemic mastocytosis › systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease

Related subtypes (4): extracutaneous mastocytoma, indolent systemic mastocytosis, aggressive systemic mastocytosis, mast cell leukemia

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: 1.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT04695431	Not specified	COMPLETED	Retrospective Study Assessing the Effect of Avapritinib Versus Best Available Therapy in Patients With AdvSM