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ORPHA:98849

Systemic mastocytosis with associated hematologic neoplasm

high confidenceDisorder

Also known as: SM-AHN · SM-AHNMD · Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease

Publications

973

85.4th percentile

Trials

1

Interventional, condition-specific

Researchers

1,392

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

An advanced form of systemic mastocytosis (SM) characterized by the abnormal accumulation of neoplastic mast cells (MCs) in one or more extracutaneous organs, mainly the bone marrow, associated with another hematologic neoplasm of non MC nature.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (10)

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

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

3/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    973 matched papers (657 in last 10 years) Source

  3. Phenotype characterisedPresent

    45 HPO annotations (e.g. Hematological neoplasm; Myeloid leukemia; Elevated total serum tryptase) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPresent

    1 matched on ClinicalTrials.gov (1 recruiting in sample)

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

45

Associated phenotypes · MONDO:0020332

  • Hematological neoplasm
  • Myeloid leukemia
  • Elevated total serum tryptase
  • Abnormal mast cell morphology
  • Pallor

Showing 5 of 45 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

1

Drugs / clinical candidates · MONDO_0020332

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

973

973 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

973 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

657 in the last 10 years · high confidence · 85.4th percentile (publications denominator)

Phrase hits: 973 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,392

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Ahn SM25 papers · 2026

    Division of Rheumatology, Department of Internal Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea.

    Papers in Europe PMC
  2. 02
    Reiter A21 papers · 2026

    Department of Hematology and Oncology, University Hospital Mannheim, Heidelberg University, Theodor-Kutzer-Ufer 1-3, 68167, Mannheim, Germany.

    Papers in Europe PMC
  3. 03
    Valent P19 papers · 2026

    Ludwig Boltzmann Institute for Hematology and Oncology, Medical University of Vienna, 1090 Vienna, Austria.

    Papers in Europe PMC
  4. 04
    Hermine O18 papers · 2026

    French Reference Center for Mastocytosis (CEREMAST), Necker-Enfants Malades University Hospital, APHP, Paris, France.

    Papers in Europe PMC
  5. 05
    Schwaab J16 papers · 2026

    Department of Hematology and Oncology, University Hospital Mannheim, Heidelberg University, Theodor-Kutzer-Ufer 1-3, 68167, Mannheim, Germany. juliana.schwaab@medma.uni-heidelberg.de.

    Papers in Europe PMC
  6. 06
    Gotlib J14 papers · 2026

    Stanford Cancer Institute/Stanford University School of Medicine, Stanford, CA.

    Papers in Europe PMC
  7. 07
    Arock M11 papers · 2026

    Department of Hematology, APHP, Hôpital Pitié-Salpêtrière and Sorbonne University, 75013 Paris, France.

    Papers in Europe PMC
  8. 08
    Hong S11 papers · 2026

    Division of Rheumatology, Department of Internal Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea.

    Papers in Europe PMC
  9. 09
    Kim YG11 papers · 2026

    Division of Rheumatology, Department of Internal Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea.

    Papers in Europe PMC
  10. 10
    Lübke J11 papers · 2026

    Department of Hematology and Oncology, University Hospital Mannheim, Heidelberg University, Theodor-Kutzer-Ufer 1-3, 68167, Mannheim, Germany.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; 1 currently recruiting in our sample. 36 trials are registered for systemic mastocytosis, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

high confidence · 80.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 interventional trials matched after quoted-phrase search and title/condition post-filter.

Broader category: systemic mastocytosis

36

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

Observational and natural-history studies

2 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

None of the matched observational studies is currently listed as recruiting.

Open the complete matched search on ClinicalTrials.gov

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · dropped 0 · fetched 2026-07-30

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (1)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Systemic mastocytosis with associated hematologic neoplasm — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

"Systemic mastocytosis with associated hematologic neoplasm" OR "SM-AHN" OR "SM-AHNMD" OR "Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease" OR "SMAHN" OR "systemic mastocytosis with an associated haematological neoplasm" OR "systemic mastocytosis with an associated haematological neoplasm (SM-AHN)" OR "systemic mastocytosis with an associated hematological neoplasm" OR "systemic mastocytosis with an associated hematological neoplasm (SM-AHN)" OR "systemic mastocytosis with associated clonal haematological non-mast-cell lineage disease" OR "systemic mastocytosis with associated clonal hematological non-mast cell lineage disease" OR "systemic mastocytosis with associated clonal hematological non-mast-cell lineage disease" OR "systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease (morphologic abnormality)"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Systemic mastocytosis with associated hematologic neoplasm" OR "SM-AHN" OR "SM-AHNMD" OR "Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease" OR "SMAHN" OR "systemic mastocytosis with an associated haematological neoplasm" OR "systemic mastocytosis with an associated haematological neoplasm (SM-AHN)" OR "systemic mastocytosis with an associated hematological neoplasm" OR "systemic mastocytosis with an associated hematological neoplasm (SM-AHN)" OR "systemic mastocytosis with associated clonal haematological non-mast-cell lineage disease" OR "systemic mastocytosis with associated clonal hematological non-mast cell lineage disease" OR "systemic mastocytosis with associated clonal hematological non-mast-cell lineage disease" OR "systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease (morphologic abnormality)"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 1 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"systemic mastocytosis"

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T05:35:12.697Z