ORPHA:98850
Aggressive systemic mastocytosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult, Antenatal, Elderly, Neonatal
- Status
- active
A rare, aggressive form of advanced systemic mastocytosis (advSM) characterized by massive infiltration of mast cells (MC) in different tissues and presence of extracutaneous organ dysfunction, but without evidence of mast cell leukemia or another hematologic neoplasm.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Aggressive systemic mastocytosis | |
| fr | Mastocytose systémique agressive | |
| de | Mastzell-Leukämie, agressive | |
| es | Mastocitosis sistémica agresiva | |
| it | Mastocitosi sistemica aggressiva | |
| nl | Agressieve systemische mastocytose | |
| pt | Mastocitose sistémica agressiva | |
| pl | Agresywna mastocytoza układowa | |
| cs | Agresivní systémová mastocytóza | |
| uk | Агресивний системний мастоцитоз | |
| zh | 侵袭性系统性肥大细胞增多症 | |
| tr | Agresif sistemik mastositoz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | C96.2 | NTBT | attributed | validated |
| ICD-11 | 2A21.0Y | NTBT | index | validated |
| ICD-11 | XH10N1 | E | specific | validated |
| MONDO | 0020333 | E | validated | |
| UMLS | C1112486 | E | validated | |
| MedDRA | 10056453 | 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.
Codes that Orphanet moved or referred to this one:
- ORPHA:158793OBSOLETE: Lymphoadenopathic mastocytosis with eosinophilia referred to · inactive
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Genes
5 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 | 26464169[PMID] |
| CBL | Disease-causing somatic mutation(s) in | Assessed | HGNC:1541 | ENSG00000110395 | 165360 | 11q23.3 | Cbl proto-oncogene | 22905207[PMID] |
| RUNX1 | Disease-causing somatic mutation(s) in | Assessed | HGNC:10471 | ENSG00000159216 | 151385 | 21q22.12 | RUNX family transcription factor 1 | 26464169[PMID] |
| SRSF2 | Disease-causing somatic mutation(s) in | Assessed | HGNC:10783 | ENSG00000161547 | 600813 | 17q25.2 | serine and arginine rich splicing factor 2 | 26464169[PMID] |
| TET2 | Disease-causing somatic mutation(s) in | Assessed | HGNC:25941 | ENSG00000168769 | 612839 | 4q24 | tet methylcytosine dioxygenase 2 | 19262599[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only | Validated | [EXPERT]_ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
39 annotations · validated 2021-06-15| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100494 | Abnormal mast cell morphology | |
| Frequent (79-30%) | ||
| HP:0032155 | Abdominal cramps | |
| HP:0002027 | Abdominal pain | |
| HP:0100845 | Anaphylactic shock | |
| HP:0002039 | Anorexia | |
| HP:0002829 | Arthralgia | |
| HP:0002653 | Bone pain | |
| HP:0025142 | Constitutional symptom | |
| HP:0002014 | Diarrhea | |
| HP:0003155 | Elevated circulating alkaline phosphatase concentration | |
| HP:0012378 | Fatigue | |
| HP:0031284 | Flushing | |
| HP:0001433 | Hepatosplenomegaly | |
| HP:0002615 | Hypotension | |
| HP:0031408 | Increased proportion of CD25+ mast cells | |
| HP:0031901 | Increased serum mast cell beta-tryptase concentration | |
| HP:0001974 | Increased total leukocyte count | |
| HP:0002716 | Lymphadenopathy | |
| HP:0002024 | Malabsorption | |
| HP:0000939 | Osteoporosis | |
| HP:0000989 | Pruritus | |
| HP:0001824 | Weight loss | |
| Occasional (29-5%) | ||
| HP:0008066 | Abnormal blistering of the skin | |
| HP:0011121 | Abnormal skin morphology | |
| HP:0001903 | Anemia | |
| HP:0001541 | Ascites | |
| HP:0001410 | Decreased liver function | |
| HP:0001875 | Decreased total neutrophil count | |
| HP:0002239 | Gastrointestinal hemorrhage | |
| HP:0004377 | Hematological neoplasm | |
| HP:0001971 | Hypersplenism | |
| HP:0001909 | Leukemia | |
| HP:0040186 | Maculopapular exanthema | |
| HP:0002797 | Osteolysis | |
| HP:0001876 | Pancytopenia | |
| HP:0002756 | Pathologic fracture | |
| HP:0001409 | Portal hypertension | |
| HP:0001873 | Thrombocytopenia | |
| HP:0001025 | Urticaria | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 30504301[PMID]_30536695[PMID]_31802761[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98850
- This record as JSON: /data/d/98850.json