ORPHA:33226
Waldenström macroglobulinemia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Multigenic/multifactorial
- Age of onset
- Elderly
- Status
- active
A rare indolent B-cell non-Hodgkin lymphoma, characterized by the infiltration of monoclonal lymphoplasmacytic cells in the bone marrow and the production of serum immunoglobulin M (IgM) monoclonal protein.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Waldenström macroglobulinemia | |
| fr | Macroglobulinémie de Waldenström | |
| de | Makroglobulinämie Waldenström | |
| es | Macroglobulinemia de Waldenström | |
| it | Macroglobulinemia di Waldenström | |
| nl | Macroglobulinemie van Waldenström | |
| pt | Macroglobulinemia de Waldenström | |
| pl | Makroglobulinemia Waldenströma | |
| cs | Waldenströmova makroglobulinemie | |
| uk | Макроглобулінемія Вальденстрема | |
| zh | 华氏巨球蛋白血症 | |
| tr | Waldenström makroglobulinemi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 153600 | E | validated | |
| OMIM | 610430 | BTNT | validated | |
| ICD-10 | C88.0 | E | specific | validated |
| ICD-11 | 2A85.4 | NTBT | specific | validated |
| MONDO | 0100280 | E | validated | |
| MONDO | 100280 | E | validated | |
| MeSH | D008258 | E | validated | |
| UMLS | C0024419 | E | validated | |
| GARD | 7872 | E | validated | |
| MedDRA | 10047801 | 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 (2):
- ORPHA:300842Indolent B-cell non-Hodgkin lymphoma
rare hematological diseases; rare neoplastic diseases; rare transplant-related disorders - ORPHA:207046Malignant lymphoma with peripheral neuropathy
rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MYD88 | Disease-causing somatic mutation(s) in | Assessed | HGNC:7562 | ENSG00000172936 | 602170 | 3p22.2 | MYD88 innate immune signal transduction adaptor | 23321251[PMID]_23532735[PMID] |
5
Prevalence and incidence
7 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | 0.81 / 100 000 | Europe | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 100 000 | 2.05 / 100 000 | France | Value and class | Validated | OTHERitut National du Cancer 2013[OTHER] |
| Annual incidence | 1-9 / 1 000 000 | 0.38 / 100 000 | United States | Value and class | Validated | 22139816[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.55 / 100 000 | United Kingdom | Value and class | Validated | 17416416[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.31 / 100 000 | Spain | Value and class | Validated | 11736938[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only | Validated | European Medicines Agency 2014[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.
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HPO phenotypes
45 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001909 | Leukemia | |
| HP:0002665 | Lymphoma | |
| HP:0005508 | Monoclonal immunoglobulin M proteinemia | |
| Frequent (79-30%) | ||
| HP:0001874 | Abnormality of neutrophils | |
| HP:0000225 | Gingival bleeding | |
| HP:0100724 | Hypercoagulability | |
| HP:0001897 | Normocytic anemia | |
| HP:0000980 | Pallor | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0002321 | Vertigo | |
| Occasional (29-5%) | ||
| HP:0008046 | Abnormal retinal vascular morphology | |
| HP:0002039 | Anorexia | |
| HP:0001251 | Ataxia | |
| HP:0001635 | Congestive heart failure | |
| HP:0006824 | Cranial nerve paralysis | |
| HP:0100778 | Cryoglobulinemia | |
| HP:0000965 | Cutis marmorata | |
| HP:0002014 | Diarrhea | |
| HP:0003565 | Elevated erythrocyte sedimentation rate | |
| HP:0000421 | Epistaxis | |
| HP:0012378 | Fatigue | |
| HP:0001945 | Fever | |
| HP:0002239 | Gastrointestinal hemorrhage | |
| HP:0000365 | Hearing impairment | |
| HP:0002240 | Hepatomegaly | |
| HP:0002716 | Lymphadenopathy | |
| HP:0002024 | Malabsorption | |
| HP:0002354 | Memory impairment | |
| HP:0002076 | Migraine | |
| HP:0010841 | Multifocal epileptiform discharges | |
| HP:0010741 | Pedal edema | |
| HP:0100539 | Periorbital edema | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0002202 | Pleural effusion | |
| HP:0000520 | Proptosis | |
| HP:0002113 | Pulmonary infiltrates | |
| HP:0000979 | Purpura | |
| HP:0002719 | Recurrent infections | |
| HP:0004372 | Reduced consciousness | |
| HP:0000083 | Renal insufficiency | |
| HP:0000573 | Retinal hemorrhage | |
| HP:0001744 | Splenomegaly | |
| HP:0001297 | Stroke | |
| HP:0001025 | Urticaria | |
| HP:0002633 | Vasculitis | |
Run the differential on the 3 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/33226
- This record as JSON: /data/d/33226.json