ANEMIA, SIDEROBLASTIC, AUTOSOMAL DOMINANT

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 5
OrphanetNr:
OMIM Id: 182170
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001924) Sideroblastic anemia 12 / 7739
2
(OMIM) Dimorphic appearance of red cells on smear 1 / 7739
3
(OMIM) Bimodal erythrocyte volume distribution curve 1 / 7739
4
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
5
(OMIM) Ringed sideroblasts in bone marrow 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM In a large Dutch family, van Waveren Hogervorst et al. (1987) observed mother and son with sideroblastic anemia diagnosed on the basis of the finding of ringed sideroblasts in bone marrow preparations. Both also had a bimodal erythrocyte ...
Molecular genetics OMIM Delhommeau et al. (2009) analyzed the TET2 gene (612839) in bone marrow cells from 320 patients with myeloid cancers and identified TET2 defects in 2 patients with refractory anemia with sideroblasts, 1 of whom also had thrombocytosis, and ...