Myelodysplastic syndromes

General Information (adopted from Orphanet):

Synonyms, Signs: MYELODYSPLASTIC SYNDROME, SUSCEPTIBILITY TO, INCLUDED
MDS
Number of Symptoms 2
OrphanetNr: 52688
OMIM Id: 614286
ICD-10: D46
UMLs: C0026985
MeSH: D009190
MedDRA: 10028532
Snomed: 109995007
128623006
188736006

Prevalence, inheritance and age of onset:

Prevalence: 5 of 100 000 [Orphanet]
Inheritance:
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Myeloid hemopathy
 -Rare hematologic disease
 -Rare oncologic disease

Symptom Information: Sort by abundance 

1
(HPO:0002863) Myelodysplasia 30 / 7739
2
(HPO:0001428) Somatic mutation 100 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Myelodysplastic syndrome (MDS) is a heterogeneous group of clonal hematologic stem cell disorders characterized by ineffective hematopoiesis resulting in low blood counts, most commonly anemia, and a risk of progression to acute myeloid leukemia (AML; 601626). Blood smears ...
Molecular genetics OMIM - Mutation in GATA2

Hahn et al. (2011) analyzed 50 candidate genes in 5 families with a predisposition to myelodysplastic syndrome and acute myeloid leukemia (AML; 601626), and in 3 of the families they identified a ...