ORPHA:86839
Myelodysplastic neoplasm with increased blasts
Synonyms: MDS with excess blasts · MDS-IB · RAEB · Refractory anemia with excess blasts
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult
- Status
- active
Refractory anemia with excess blasts (RAEB) is a frequent severe subtype of myelodysplastic syndrome (MDS) characterized by cytopenias with unilineage or multilineage dysplasia and 5% to 19% blasts in bone marrow or blood.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Myelodysplastic neoplasm with increased blasts | MDS with excess blasts · MDS-IB · RAEB · Refractory anemia with excess blasts |
| fr | Tumeur myélodysplasique avec augmentation des blastes | Anémie réfractaire avec excès de blastes |
| de | Myelodysplastische Neoplasie mit erhöhtem Blastenanteil | MDS mit überzähligen Blasten · MDS-IB · RAEB · Refraktäre Anämie mit Blastenüberschuss |
| es | Neoplasia mielodisplásica con aumento de blastos | Anemia refractaria con exceso de blastos · MDS-IB · RAEB · SMD con exceso de blastos |
| it | Neoplasia mielodisplastica con aumento di blasti | Anemia refrattaria con eccesso di blasti · MDS con eccesso di blasti · MDS-IB · RAEB |
| nl | Myelodysplastisch neoplasma met overmaat aan blasten | MDS met overmaat aan blasten · MDS-IB · RAEB · Refractaire anemie met exces van blasten |
| pt | Neoplasia mielodisplásica com excesso de blastos | Anemia refratária com excesso de blastos · MDS com excesso de blastos · MDS-IB · RAEB |
| pl | Nowotwór mielodysplastyczny ze zwiększoną liczbą blastów | = en |
| cs | Refrakterní anémie s excesem blastů | = en |
| uk | Мієлодиспластичне новоутворення з підвищеною кількістю бластів | МДС з надлишком бластів · MDS-IB · RAEB · Рефрактерна анемія з надлишком бластів |
| zh | 难治性贫血伴原始细胞增多 | RAEB |
| tr | Aşırı blast ile seyreden refrakter anemi | RAEB |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | D46.2 | NTBT | attributed | validated |
| ICD-11 | 2A35 | E | specific | validated |
| MONDO | 0019454 | E | validated | |
| MONDO | 19454 | E | validated | |
| MeSH | D000754 | E | validated | |
| UMLS | C0002894 | E | validated | |
| MedDRA | 10038270 | 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:52688Myelodysplastic syndrome
rare hematological diseases; rare neoplastic diseases; rare transplant-related disorders
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Genes
0 direct · 2 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| TET2 | ORPHA:100019Myelodysplastic neoplasm with increased blasts type 1 | Disease-causing somatic mutation(s) in | Assessed | HGNC:25941 | ENSG00000168769 | 612839 | 4q24 | tet methylcytosine dioxygenase 2 | 19483684[PMID]_19557078[PMID] |
| TET2 | ORPHA:100020Myelodysplastic neoplasm with increased blasts type 2 | Disease-causing somatic mutation(s) in | Assessed | HGNC:25941 | ENSG00000168769 | 612839 | 4q24 | tet methylcytosine dioxygenase 2 | 19483684[PMID]_19557078[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
| Annual incidence | 1-9 / 1 000 000 | 0.15 / 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.
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HPO phenotypes
22 annotations · validated 2019-06-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010972 | Anemia of inadequate production | |
| HP:0012378 | Fatigue | |
| Frequent (79-30%) | ||
| HP:0001017 | Anemic pallor | |
| HP:0002875 | Exertional dyspnea | |
| HP:0001945 | Fever | |
| HP:0001962 | Palpitations | |
| Occasional (29-5%) | ||
| HP:0012116 | Abnormal albumin level | |
| HP:0001892 | Abnormal bleeding | |
| HP:0010876 | Abnormal circulating protein level | |
| HP:0025065 | Abnormal mean corpuscular volume | |
| HP:0005561 | Abnormality of bone marrow cell morphology | |
| HP:0004808 | Acute myeloid leukemia | |
| HP:0005528 | Bone marrow hypocellularity | |
| HP:0002653 | Bone pain | |
| HP:0031035 | Chronic infection | |
| HP:0012136 | Dysplastic granulopoesis | |
| HP:0001974 | Increased total leukocyte count | |
| HP:0012148 | Multiple lineage myelodysplasia | |
| HP:0010741 | Pedal edema | |
| HP:0000573 | Retinal hemorrhage | |
| HP:0012150 | Single lineage myelodysplasia | |
| HP:0001873 | Thrombocytopenia | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 22568928[PMID]_24958999[PMID]_27813084[PMID]_28260960[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/86839
- This record as JSON: /data/d/86839.json