Acute erythroid leukemia

General Information (adopted from Orphanet):

Synonyms, Signs: AML-M6
DI GUGLIELMO DISEASE, FAMILIAL
LEUKEMIA, ACUTE MYELOGENOUS, M6
Acute myeloblastic leukemia type 6
Erythroleukemia
Number of Symptoms 12
OrphanetNr: 318
OMIM Id: 133180
ICD-10: C94.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Unclassified acute myeloid leukemia
 -Rare hematologic disease
 -Rare oncologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0004828) Refractory anemia with ringed sideroblasts 1 / 7739
2
 (HPO:0001909) Leukemia 46 / 7739
3
 (HPO:0001980) Megaloblastic bone marrow 5 / 7739
4
 (HPO:0001889) Megaloblastic anemia 28 / 7739
5
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
6
 (OMIM) Red cell proliferation 1 / 7739
7
 (MedDRA:10067477) Cytogenetic abnormality 1 / 7739
8
 (OMIM) Erythroid leukemia 1 / 7739
9
 (OMIM) Elevated erythrocyte hexokinase 1 / 7739
10
 (OMIM) Ineffective hyperplastic erythropoiesis 1 / 7739
11
 (OMIM) Marrow hypocellularity 1 / 7739
12
 (OMIM) Elevated IgM 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Familial erythroleukemia is a leukemic or preleukemic state in which red cell proliferation is the predominant feature. Hematologic characteristics include particularly ineffective and hyperplastic erythropoiesis with megaloblastic components accompanied by myeloblastic proliferation of varying degree (Park et al., ...
Clinical Description OMIM Davidson et al. (1978) reported the clinical and hematologic details of an affected brother and sister. Their father presumably had died of a similar disease. Both sibs showed chromosomal changes, a finding previously reported in a majority of ...
Molecular genetics OMIM Le Couedic et al. (1996) identified a heterozygous mutation in the EPOR gene (133171.0003) in 1 of 10 cases of erythroleukemia. However, in that patient, Mitjavila et al. (1991) had previously shown that erythroid growth was due to ...