Chronic myeloproliferative disease, unclassifiable
Synonyms: CMPD-U · Undifferentiated myeloproliferative disease
- Type
- Disease
- Group
- Disorder
- Age of onset
- Adult
- Status
- active
A rare hematological neoplasm characterized by clonal proliferation of myeloid precursors in the bone marrow, blood and other tissues (spleen, liver), with clinical, morphological and molecular features of myeloproliferative neoplasms (MPN), failing to meet criteria of a specific MPN. The presentation is nonspecific and variable and often includes leukocytosis, thrombocytosis and anemia. Splenomegaly, hepatomegaly as well as fatigue, malaise or weight loss may appear in advanced stages.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Chronic myeloproliferative disease, unclassifiable | CMPD-U · Undifferentiated myeloproliferative disease |
| fr | Maladie myéloproliférative chronique non classifiée | Maladie myéloproliférative non différenciée |
| de | Myeloproliferative Krankheit, nicht klassifizierbare | CMPD-U · Myeloproliferative Krankheit, undifferenzierte |
| es | Enfermedad mieloproliferativa crónica inclasificable | CMPD-U · Enfermedad mieloproliferativa indiferenciada |
| it | Malattia mieloproliferativa cronica non classificabile | CMPD-U · Malattia mieloproliferativa indifferenziata |
| nl | Chronische myeloproliferatieve ziekte, niet-classificeerbaar | CMPD-U · Ongedifferentieerde myeloproliferatieve ziekte |
| pt | Doença mieloproliferativa crónica, não classificável | CMPD-U · Doença mieloproliferativa indiferenciada |
| pl | Przewlekła choroba mieloproliferacyjna, niesklasykiwona | CMPD-U · Niezróżnicowana choroba mieloproliferacyjna |
| cs | Neklasifikované chronické myeloproliferativní onemocnění | CMPD-U · Nediferencované myeloproliferativní onemocnění |
| uk | Хронічне мієлопроліферативне захворювання, не класифіковане | CMPD-U · Недиференційоване мієлопроліферативне захворювання |
| zh | 未分型慢性骨髓增殖性疾病 | 未分化型骨髓增生性疾病 |
| tr | Kronik miyeloproliferatif hastalık, sınıflandırılmamış | CMPD-U · Farklılaşmamış miyeloproliferatif hastalık |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 131440 | BTNT | validated | |
| ICD-10 | D47.1 | NTBT | attributed | validated |
| ICD-11 | 2A22 | NTBT | attributed | validated |
| MONDO | 0019452 | E | validated | |
| MONDO | 19452 | E | validated | |
| UMLS | C4757947 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:98274Myeloproliferative neoplasm
rare hematological diseases; rare neoplastic diseases; rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PDGFRB | Part of a fusion gene in | Assessed | HGNC:8804 | ENSG00000113721 | 173410 | 5q32 | platelet derived growth factor receptor beta | 17296564[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | 0.53 / 100 000 | Europe | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/86830
- This record as JSON: /data/d/86830.json