ORPHA:158778
Isolated bone marrow mastocytosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Unknown
- Status
- active
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 <i>KIT</i> D816V mutation is present in the majority of cases.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated bone marrow mastocytosis | |
| fr | Mastocytose isolée de la moelle osseuse | |
| de | Mastozytose des Knochenmarks, isolierte | |
| es | Mastocitosis medular aislada | |
| it | Mastocitosi isolata del midollo osseo | |
| nl | Geïsoleerde beenmergmastocytose | |
| pt | Mastocitose da medula óssea, isolada | |
| pl | Izolowana mastocytoza szpiku kostnego | |
| cs | Izolovaná mastocytóza kostní dřeně | |
| uk | Ізольований мастоцитоз кісткового мозку | |
| zh | 孤立性骨髓肥大细胞增多症 | |
| tr | İzole kemik iliği mastositozu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | D47.0 | NTBT | attributed | validated |
| ICD-11 | 2A21.0Y | NTBT | index | validated |
| MONDO | 0015558 | E | validated | |
| UMLS | C4509020 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:2467Systemic mastocytosis
rare hematological diseases; rare neoplastic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KIT | Disease-causing somatic mutation(s) in | Assessed | HGNC:6342 | ENSG00000157404 | 164920 | 4q12 | KIT proto-oncogene, receptor tyrosine kinase |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/158778
- This record as JSON: /data/d/158778.json