Myelodysplastic neoplasm with increased blasts type 1
Synonyms: MDS-IB1 · RAEB-1 · Refractory anemia with excess blasts type 1
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Not applicable
- Age of onset
- Adult
- Status
- active
A severe type of RAEB characterized by cytopenias and the following hematological parameters: uni- or multilineage dysplasia, 5% to 9% blasts in bone marrow or 2% to 4% in peripheral blood, and no Auer rods (abnormal, needle-shaped or round inclusions in the cytoplasm of myeloblasts and promyelocytes). Median survival has been reported to be 18 months.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Myelodysplastic neoplasm with increased blasts type 1 | MDS-IB1 · RAEB-1 · Refractory anemia with excess blasts type 1 |
| fr | Tumeur myélodysplasique avec augmentation des blastes type 1 | AREB-1 · Anémie réfractaire avec excès de blastes type 1 · RAEB-1 |
| de | Myelodysplastische Neoplasie mit erhöhtem Blastenanteil Typ 1 | Anämie, refraktäre, mit Blastenexzess-1 · MDS-IB1 · RAEB-1 |
| es | Neoplasia mielodisplásica con aumento de blastos tipo 1 | Anemia refractaria con exceso de blastos tipo 1 · MDS-IB1 · RAEB-1 · Síndrome mielodisplásico con aumento de blastos tipo 1 |
| it | Neoplasia mielodisplastica con aumento dei blasti tipo 1 | Anemia refrattaria con eccesso di blasti tipo 1 · MDS-IB1 · RAEB-1 |
| nl | Myelodysplastisch neoplasma met overmaat aan blasten type 1 | MDS met overmaat aan blasten type 1 · MDS-IB1 · RAEB-1 · Refractaire anemie met exces van blasten type 1 |
| pt | Neoplasia mielodisplásica com excesso de blastos tipo 1 | Anemia refratária com excesso de blastos tipo 1 · MDS-IB1 · RAEB-1 |
| pl | Nowotwór mielodysplastyczny ze zwiększoną liczbą blastów typu 1 | RAEB-1 |
| cs | Refrakterní anémie s nadbytkem blastů, typ 1 | RAEB-1 |
| uk | Мієлодиспластичне новоутворення з підвищеною кількістю бластів, тип 1 | MDS-IB1 · RAEB-1 · Рефрактерна анемія з надлишком бластів, тип 1 |
| zh | 难治性贫血伴母细胞过多1型 | RAEB-1 |
| tr | Tip 1 aşırı blastlı refrakter anemi | RAEB-1 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | D46.2 | NTBT | attributed | validated |
| ICD-11 | 2A35 | NTBT | index | validated |
| MONDO | 0015040 | E | validated | |
| UMLS | C1318550 | 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:86839Myelodysplastic neoplasm with increased blasts
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 |
|---|---|---|---|---|---|---|---|---|
| TET2 | Disease-causing somatic mutation(s) in | Assessed | HGNC:25941 | ENSG00000168769 | 612839 | 4q24 | tet methylcytosine dioxygenase 2 | 19483684[PMID]_19557078[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | 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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/100019
- This record as JSON: /data/d/100019.json