ORPHA:98826
Myelodysplastic neoplasm with low blasts
Synonyms: MDS-LB · Refractory anemia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adolescent, Adult, Childhood, Elderly, Infancy
- Status
- active
Refractory cytopenias with unilineage dysplasia (RCUD) is a frequent low-risk subtype of myelodysplastic syndrome (MDS) characterized by refractory cytopenias associated with dysplasia limited to one cell lineage.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Myelodysplastic neoplasm with low blasts | MDS-LB · Refractory anemia |
| fr | Tumeur myélodysplasique avec faible nombre de blastes | Anémie réfractaire |
| de | Myelodysplastische Neoplasie mit niedrigem Blastenanteil | Anämie, refraktäre · MDS-LB |
| es | Neoplasia mielodisplásica con pocos blastos | Anemia refractaria · MDS-LB · Síndrome mielodisplásico con pocos blastos |
| it | Neoplasia mielodisplastica con riduzione dei blasti | Anemia refrattaria · MDS-LB |
| nl | Myelodysplastisch neoplasma met weinig blasten | MDS-LB · Refractaire anemie |
| pt | Neoplasia mielodisplásica com redução de blastos | Anemia refratária · MDS-LB |
| pl | Nowotwór mielodysplastyczny z niską liczbą blastów | = en |
| cs | Refrakterní anémie | = en |
| uk | Мієлодиспластичне новоутворення з низьким рівнем бластів | MDS-LB · Рефрактерна анемія |
| zh | 难治性贫血 | |
| tr | Refrakter anemi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | D46.7 | NTBT | attributed | validated |
| ICD-11 | 2A30 | E | specific | validated |
| MONDO | 0005272 | E | validated | |
| MONDO | 5272 | E | validated | |
| MeSH | D000753 | E | validated | |
| UMLS | C2981142 | E | validated | |
| MedDRA | 10038269 | 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 (1):
- ORPHA:86836Refractory cytopenia with multilineage dysplasia
rare hematological diseases; rare neoplastic diseases; rare transplant-related disorders
No children.
4
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] |
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | 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.
6
HPO phenotypes
14 annotations · validated 2019-06-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010972 | Anemia of inadequate production | |
| HP:0002863 | Myelodysplasia | |
| Frequent (79-30%) | ||
| HP:0012133 | Erythroid hypoplasia | |
| HP:0012378 | Fatigue | |
| HP:0001972 | Macrocytic anemia | |
| HP:0012150 | Single lineage myelodysplasia | |
| Occasional (29-5%) | ||
| HP:0030872 | Abnormal cardiac ventricular function | |
| HP:0005528 | Bone marrow hypocellularity | |
| HP:0002094 | Dyspnea | |
| HP:0001895 | Normochromic anemia | |
| HP:0001897 | Normocytic anemia | |
| Very rare (<4-1%) | ||
| HP:0001892 | Abnormal bleeding | |
| HP:0001875 | Decreased total neutrophil count | |
| HP:0001873 | Thrombocytopenia | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 31005849[PMID]_27776290[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98826
- This record as JSON: /data/d/98826.json