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Isolated bone marrow mastocytosis

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Disease definition

A rare subtype of indolent systemic mastocytosis characterized by isolated bone marrow involvement without skin lesions, low burden of neoplastic mast cells, and often normal or near normal serum tryptase levels. The KIT D816V mutation is present in the majority of cases.

ORPHA:158778

Classification level: Disorder

Prevalence: -

Inheritance: Autosomal dominant, Unknown

Age of onset:

ICD-10: D47.0

ICD-11: 2A21.0Y

UMLS: C4509020

A summary on this disease is available in Français, Español, Deutsch, Português, Nederlands
Detailed information

Logo ERN: produced/endorsed by ERN(s) Logo FSMR: produced/endorsed by FSMR(s)

Guidelines
Emergency guidelines
Français (2024.pdf) - Orphanet Urgences
Anesthesia guidelines
English (2020) - Orphananesthesia
Español (2020) - Orphananesthesia
Čeština (2020) - Orphananesthesia
Clinical practice guidelines
Français (2022) - PNDS Logo FSMR
English (2015) - Hematology Am Soc Hematol Educ Program Logo ERN
Diagnostic Keys
Français (2024) - Les clés du diagnostic Logo FSMR
Disease review articles
Review article
English (2019) - Am J Hematol
Logo PROQOLID
Patient-Centered Outcome Measures (PCOMs)
Access questionnaires assessing quality of life in this disease (English)
Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Newborn screening

The documents contained in this website are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.