ORPHA:98849
Systemic mastocytosis with associated hematologic neoplasm
Synonyms: SM-AHN · SM-AHNMD · Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult, Elderly
- Status
- active
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.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Systemic mastocytosis with associated hematologic neoplasm | SM-AHN · SM-AHNMD · Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease |
| fr | Mastocytose systémique associée à une maladie hématologique | Mastocytose systémique associée à une hémopathie clonale non mastocytaire · SM-AHN · SM-AHNMD |
| de | Mastozytose, systemische, mit assoziierter hämatologischer Neoplasie | SM-AHN · SM-AHNMD · Systemische Mastozytose mit assozierter klonaler hämatologische Nicht-Mastzell-Erkrankung |
| es | Mastocitosis sistémica con neoplasia hematológica asociada | Mastocitosis sistémica asociada con enfermedad clonal hematológica de línea no mastocítica · SM-AHN · SM-AHNMD |
| it | Mastocitosi sistemica associata a neoplasia ematologica | SM-AHN · SM-AHNMD |
| nl | Systemische mastocytose met geassocieerd hematologisch neoplasma | SM-AHN · SM-AHNMD · Systemische mastocytose met een geassocieerde klonale hematologische, niet van mastocyten afkomstige ziekte |
| pt | Mastocitose sistémica com uma doença hematológica clonal de linhagem não-mastocitária associada | |
| pl | Mastocytoza układowa z towrzyszącym kolnalnym rozrostem linii komórkowych niemastocytowych | = en |
| cs | Systémová mastocytóza spojená s klonální hematologickou nemocí z jiných buněk než mastocytů | = en |
| uk | Системний мастоцитоз із супутнім гематологічним новоутворенням | SM-AHN · SM-AHNMD · Системний мастоцитоз з асоційованим клональним гематологічним захворюванням немастоцитарної лінії |
| zh | 系统性肥大细胞增多症伴相关性血液肿瘤 | 系统性肥大细胞增多症伴血液克隆性非肥大细胞系疾病 |
| tr | Hematolojik neoplazm ilişkili sistemik mastositoz | SM-AHN · SM-AHNMD · İlişkili bir klonal hematolojik mast dışı hücre soy hastalığı ile seyreden sistemik mastositoz |
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 |
| ICD-11 | XH5195 | E | specific | validated |
| MONDO | 0020332 | E | validated | |
| MONDO | 20332 | E | validated | |
| UMLS | C1301365 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:2467Systemic mastocytosis
rare hematological diseases; rare neoplastic diseases
No children.
4
Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ASXL1 | Disease-causing somatic mutation(s) in | Assessed | HGNC:18318 | ENSG00000171456 | 612990 | 20q11.21 | ASXL transcriptional regulator 1 | 25567135[PMID] |
| KIT | Disease-causing somatic mutation(s) in | Assessed | HGNC:6342 | ENSG00000157404 | 164920 | 4q12 | KIT proto-oncogene, receptor tyrosine kinase | |
| SRSF2 | Disease-causing somatic mutation(s) in | Assessed | HGNC:10783 | ENSG00000161547 | 600813 | 17q25.2 | serine and arginine rich splicing factor 2 | 25567135[PMID] |
| TET2 | Disease-causing somatic mutation(s) in | Assessed | HGNC:25941 | ENSG00000168769 | 612839 | 4q24 | tet methylcytosine dioxygenase 2 | 25567135[PMID] |
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only | Validated | [EXPERT] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
45 annotations · validated 2021-06-15| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100494 | Abnormal mast cell morphology | |
| HP:0004377 | Hematological neoplasm | |
| HP:0031901 | Increased serum mast cell beta-tryptase concentration | |
| HP:0012324 | Myeloid leukemia | |
| Frequent (79-30%) | ||
| HP:0031020 | Bone marrow hypercellularity | |
| HP:0012378 | Fatigue | |
| HP:0001945 | Fever | |
| HP:0002315 | Headache | |
| HP:0001880 | Increased total eosinophil count | |
| HP:0001974 | Increased total leukocyte count | |
| HP:0005547 | Myeloproliferative disorder | |
| HP:0001895 | Normochromic anemia | |
| HP:0001897 | Normocytic anemia | |
| HP:0000980 | Pallor | |
| HP:0000989 | Pruritus | |
| HP:0001873 | Thrombocytopenia | |
| HP:0001824 | Weight loss | |
| Occasional (29-5%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0002086 | Abnormality of the respiratory system | |
| HP:0004808 | Acute myeloid leukemia | |
| HP:0002829 | Arthralgia | |
| HP:0002653 | Bone pain | |
| HP:0012325 | Chronic myelomonocytic leukemia | |
| HP:0002014 | Diarrhea | |
| HP:0031284 | Flushing | |
| HP:0012138 | Granulocytic hyperplasia | |
| HP:0002240 | Hepatomegaly | |
| HP:0002615 | Hypotension | |
| HP:0031807 | Increased basophil count | |
| HP:0002659 | Increased susceptibility to fractures | |
| HP:0002716 | Lymphadenopathy | |
| HP:0002665 | Lymphoma | |
| HP:0003326 | Myalgia | |
| HP:0002863 | Myelodysplasia | |
| HP:0002018 | Nausea | |
| HP:0011897 | Neutrophilia | |
| HP:0000939 | Osteoporosis | |
| HP:0004398 | Peptic ulcer | |
| HP:0001744 | Splenomegaly | |
| HP:0001279 | Syncope | |
| HP:0001649 | Tachycardia | |
| HP:0001025 | Urticaria | |
| Very rare (<4-1%) | ||
| HP:0011034 | Amyloidosis | |
| HP:0005550 | Chronic lymphatic leukemia | |
| HP:0006775 | Multiple myeloma | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 32398637[PMID]_30536695[PMID]_33401724[PMID]_22742558[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98849
- This record as JSON: /data/d/98849.json