Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
Synonyms: 5q- syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult
- Status
- active
A rare myelodysplastic syndrome characterized by macrocytic anemia (with or without other cytopenias and/or thrombocytosis), and with del(5q) occurring either in isolation, or with one other cytogenetic abnormality, other than monosomy 7 or del(7q). The bone marrow is typically hypercellular with erythroid hypoplasia and increased numbers of megakaryocytes, which show non-lobated and hypolobated nuclei. Myeloblasts constitute less than 5% of the nucleated bone marrow cells and less than 1% of the peripheral blood leukocytes. Auer rods are absent. Ring sideroblasts may be observed. Patients present with anemia and often thrombocytosis, while thrombocytopenia or pancytopenia are uncommon. Transformation to acute myeloid leukemia may occur in a small number of patients.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality | 5q- syndrome |
| fr | Syndrome myélodysplasique associé à une anomalie chromosomique isolée del(5q) | Syndrome 5q- |
| de | Myelodysplastisches Syndrom mit isolierter del(5q) Chromosomenanomalie | 5q-Syndrom · 5q-minus-Syndrom |
| es | Síndrome mielodisplásico asociado a una anomalía cromosómica aislada del(5q) | Síndrome 5q- |
| it | Sindrome mielodisplastica associata ad anomalia cromosomica isolata del(5q) | Sindrome 5q- |
| nl | Myelodysplastisch syndroom geassocieerd met geïsoleerde del(5q) chromosoomabnormaliteit | 5q-syndroom |
| pt | Síndrome mielodisplásico associado a anomalia cromossómica 5q isolada | |
| pl | Zespół mielodysplastyczny związany z delecją długiego ramienia chromosomu 5 | Zespół 5q |
| cs | Myelodysplastický syndrom vázaný s izolovanou abnormalitou del(5q) | 5q- syndrom |
| uk | Мієлодиспластичний синдром, асоційований з ізольованою аномалією хромосоми del(5q) | 5q-синдром |
| zh | 骨髓增生异常综合征伴孤立型5号染色体长臂异常 | 5q综合征 |
| tr | İzole del (5q) kromozom anomalisi-ilişkili miyelodisplastik sendrom | 5q- sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 153550 | E | validated | |
| ICD-10 | D46.6 | E | specific | validated |
| ICD-11 | 2A36 | E | specific | validated |
| MONDO | 0007925 | E | validated | |
| UMLS | C1292779 | E | validated | |
| GARD | 8723 | E | validated | |
| MedDRA | 10067096 | 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:52688Myelodysplastic syndrome
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 |
|---|---|---|---|---|---|---|---|---|
| RPS14 | Role in the phenotype of | Assessed | HGNC:10387 | ENSG00000164587 | 130620 | 5q33.1 | ribosomal protein S14 | 22571696[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | <1 / 1 000 000 | — | Europe | Class only | 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.
HPO phenotypes
18 annotations · validated 2019-06-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002863 | Myelodysplasia | |
| Frequent (79-30%) | ||
| HP:0001877 | Abnormal erythrocyte morphology | |
| HP:0012143 | Abnormal megakaryocyte morphology | |
| HP:0031020 | Bone marrow hypercellularity | |
| HP:0012133 | Erythroid hypoplasia | |
| HP:0025435 | Increased circulating lactate dehydrogenase concentration | |
| HP:0001972 | Macrocytic anemia | |
| HP:0031385 | Megakaryocyte nucleus hypolobulation | |
| HP:0001894 | Thrombocytosis | |
| Occasional (29-5%) | ||
| HP:0001892 | Abnormal bleeding | |
| HP:0012129 | Abnormality of bone marrow stromal cells | |
| HP:0011992 | Abnormality of neutrophil morphology | |
| HP:0004808 | Acute myeloid leukemia | |
| HP:0011273 | Anisocytosis | |
| HP:0005528 | Bone marrow hypocellularity | |
| HP:0031035 | Chronic infection | |
| HP:0001882 | Leukopenia | |
| HP:0012148 | Multiple lineage myelodysplasia | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 28631666[PMID]_20733155[PMID]_26075044[PMID]_20658591[PMID]_26001289[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/86841
- This record as JSON: /data/d/86841.json