ORPHA:29073
Multiple myeloma
Synonyms: Kahler disease · Medullary plasmacytoma · Myelomatosis · Plasma cell myeloma
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult
- Status
- active
Multiple myeloma (MM) is a malignant tumor of plasma cell characterized by overproduction of abnormal plasma cells in the bone marrow and skeletal destruction. The clinical features are bone pain, renal impairment, immunodeficiency, anemia and presence of abnormal immunoglobulins (Ig).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Multiple myeloma | Kahler disease · Medullary plasmacytoma · Myelomatosis · Plasma cell myeloma |
| fr | Myélome multiple | Maladie de Kahler · Myélomatose · Myélome à plasmocytes · Plasmacytome médullaire |
| de | Myelom, multiples | Kahler-Krankheit · Myelomatose · Plasmazellmyelom · Plasmozytom, medulläres |
| es | Mieloma múltiple | Enfermedad de Kahler · Mieloma de células plasmáticas · Mielomatosis · Plasmocitoma medular |
| it | Mieloma multiplo | Malattia di Kahler · Mieloma dei plasmociti · Mieloma delle cellule plasmatiche · Mielomatosi · Plasmacitoma midollare |
| nl | Multipel myeloom | Medullair plasmacytoom · Meervoudig myeloom · Myelomatose · Plasmacelmyeloom · Ziekte van Kahler |
| pt | Mieloma múltiplo | Doença de Kahler |
| pl | Szpiczak mnogi | Choroba Kahlera · Mielomatoza · plasmocytoma szpiku · Szpiczak z komórek plazmatycznych |
| cs | Mnohočetný myelom | Kahlerova nemoc · Medulární plazmocytom · Myelomatóza · Plazmocytární myelom |
| uk | Множинна мієлома | Хвороба Калера · Медулярна плазмоцитома · Мієломатоз · Плазмоклітинна мієлома |
| zh | 多发性骨髓瘤 | 骨髓浆细胞瘤 |
| tr | Multipil myelom | Miyelomatoz · Kahler hastalığı · Plazma hücreli miyelom · Medüller plazmasitom |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 254500 | E | validated | |
| ICD-10 | C90.0 | E | specific | validated |
| ICD-11 | 2A83.1 | E | specific | validated |
| MONDO | 0009693 | E | validated | |
| MeSH | D009101 | E | validated | |
| UMLS | C0026764 | E | validated | |
| GARD | 7108 | E | validated | |
| MedDRA | 10028228 | 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 (2):
- ORPHA:209016Hematological disease associated with an acquired peripheral neuropathy
rare neurological diseases - ORPHA:98282Plasma cell tumor
rare hematological diseases; rare neoplastic diseases; rare transplant-related disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CCND1 | Major susceptibility factor in | Assessed | HGNC:1582 | ENSG00000110092 | 168461 | 11q13.3 | cyclin D1 | 23502783[PMID] |
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Prevalence and incidence
9 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 3.8 / 100 000 | United States | Value and class | Validated | National Cancer OTHERitute 2005[OTHER] |
| Annual incidence | 1-9 / 100 000 | 6 / 100 000 | Worldwide | Value and class | Validated | [EXPERT] |
| Point prevalence | 1-5 / 10 000 | 11.9 / 100 000 | Europe | Value and class | Validated | World Health Organization 2008[OTHER] |
| Annual incidence | 1-9 / 100 000 | 7.7 / 100 000 | France | Value and class | Validated | OTHERitut National du Cancer 2013[OTHER] |
| Annual incidence | 1-9 / 100 000 | 2.4 / 100 000 | Europe | Value and class | Validated | World Health Organization 2008[OTHER] |
| Annual incidence | 1-9 / 100 000 | 5.6 / 100 000 | United States | Value and class | Validated | National Cancer OTHERitute 2005[OTHER] |
| Annual incidence | 1-9 / 100 000 | 2 / 100 000 | Iran, Islamic Republic of | Value and class | Validated | 23725136[PMID] |
| Annual incidence | 1-9 / 100 000 | 5.1 / 100 000 | Australia | Value and class | Validated | Cancer OTHERitute New South Wales 2008[OTHER] |
| Annual incidence | 1-9 / 100 000 | 6.2 / 100 000 | Denmark | Value and class | Validated | 36413106[PMID] |
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
31 annotations · validated 2024-01-15| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000938 | Osteopenia | |
| HP:0002756 | Pathologic fracture | |
| Frequent (79-30%) | ||
| HP:0001919 | Acute kidney injury | |
| HP:0001903 | Anemia | |
| HP:0002653 | Bone pain | |
| HP:0004313 | Decreased circulating antibody level | |
| HP:0003259 | Elevated circulating creatinine concentration | |
| HP:0012378 | Fatigue | |
| HP:0003324 | Generalized muscle weakness | |
| HP:0002152 | Hyperproteinemia | |
| HP:0003237 | Increased circulating IgG level | |
| HP:0000112 | Nephropathy | |
| HP:0000100 | Nephrotic syndrome | |
| HP:0002797 | Osteolysis | |
| HP:0000980 | Pallor | |
| Occasional (29-5%) | ||
| HP:0000014 | Abnormality of the bladder | |
| HP:0004341 | Abnormality of vitamin B12 metabolism | |
| HP:0012185 | Constrictive median neuropathy | |
| HP:0012719 | Functional abnormality of the gastrointestinal tract | |
| HP:0003072 | Hypercalcemia | |
| HP:0003261 | Increased circulating IgA level | |
| HP:0002808 | Kyphosis | |
| HP:0003401 | Paresthesia | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0002176 | Spinal cord compression | |
| HP:0000098 | Tall stature | |
| HP:0002953 | Vertebral compression fracture | |
| HP:0001824 | Weight loss | |
| Very rare (<4-1%) | ||
| HP:0002716 | Lymphadenopathy | |
| HP:0002202 | Pleural effusion | |
| HP:0001744 | Splenomegaly | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 30521185[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/29073
- This record as JSON: /data/d/29073.json