Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality

General Information (adopted from Orphanet):

Synonyms, Signs: MAR MEGAKARYOCYTES, UNILOBULAR NUCLEATED, INCLUDED
MACROCYTIC ANEMIA, REFRACTORY, DUE TO 5q DELETION
5q- syndrome
Number of Symptoms 11
OrphanetNr: 86841
OMIM Id: 153550
ICD-10: D46.7
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant contiguous gene syndrome
Sporadic
[Omim]
Age of onset: Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Myelodysplastic syndromes
 -Rare hematologic disease
 -Rare oncologic disease

Symptom Information: Sort by abundance 

1
(HPO:0004861) Refractory macrocytic anemia 1 / 7739
2
(HPO:0012133) Erythroid hypoplasia 5 / 7739
3
(HPO:0002863) Myelodysplasia 30 / 7739
4
(HPO:0010972) Anemia of inadequate production 10 / 7739
5
(HPO:0012143) Abnormality of cells of the megakaryocyte lineage 1 / 7739
6
(OMIM) Normal or increased platelet count 1 / 7739
7
(OMIM) Medullary blast count of less than 5% 1 / 7739
8
(OMIM) Hypolobulated megakaryocytes in the bone marrow 1 / 7739
9
(HPO:0001452) Autosomal dominant contiguous gene syndrome 4 / 7739
10
(HPO:0003745) Sporadic 131 / 7739
11
(HPO:0001428) Somatic mutation 100 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The 5q- syndrome is a myelodysplastic syndrome characterized by a defect in erythroid differentiation. Patients have severe macrocytic anemia, normal or elevated platelet counts, normal or reduced neutrophil counts, erythroid hypoplasia in the bone marrow, and hypolobated micromegakaryocytes ...
Clinical Description OMIM Van den Berghe et al. (1974) first described refractory macrocytic anemia associated with deletion of the long arm of chromosome 5, which was known as Belgian disease or 'anemie refractaire de type belge.' It was, of course, found ...
Molecular genetics OMIM - Haploinsufficiency for Ribosomal Protein S14

Somatic chromosomal deletions in cancer are thought to indicate the location of tumor suppressor genes, by which a complete loss of gene function occurs through biallelic inactivation. However, in the ...