MCID: ERY051
MIFTS: 26

Erythroleukemia, Familial

Categories: Genetic diseases, Cancer diseases, Blood diseases, Rare diseases

Aliases & Classifications for Erythroleukemia, Familial

MalaCards integrated aliases for Erythroleukemia, Familial:

Name: Erythroleukemia, Familial 53
Leukemia, Acute Myelogenous, M6 53
Di Guglielmo Disease, Familial 53
Acute Erythroblastic Leukemia 69
Acute Myeloid Leukemia M6 55
Acute Erythroid Leukemia 55
Erythroleukemia 55
Aml M6 55

Characteristics:

Orphanet epidemiological data:

55
acute erythroid leukemia
Age of onset: Adult;

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
erythroleukemia, familial:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 133180
Orphanet 55 ORPHA318
UMLS via Orphanet 70 C0023440
ICD10 via Orphanet 33 C94.0
MedGen 39 C1851482
UMLS 69 C0023440

Summaries for Erythroleukemia, Familial

OMIM : 53 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., 2002). Park et al. (2002) discussed the evolution of the definition of 'erythroleukemia,' which is considered by most to be a subtype of acute myelogenous leukemia (AML; 601626). Controversy about the precise definition of erythroleukemia revolves around the number or percentage of erythroblasts and myeloblasts found in the bone marrow and peripheral circulation. In the French-American-British (FAB) classification system (Bennett et al., 1985), it is known as AML-M6, whereas in the revised World Health Organization (WHO) classification system (Harris et al., 1999), it is known as 'AML, not otherwise categorized' (Zini and D'Onofrio, 2004). (133180)

MalaCards based summary : Erythroleukemia, Familial, also known as leukemia, acute myelogenous, m6, is related to acute erythroid leukemia and anemia, congenital dyserythropoietic, type iii, and has symptoms including refractory anemia with ringed sideroblasts and leukemia. Affiliated tissues include bone, bone marrow and myeloid.

Related Diseases for Erythroleukemia, Familial

Diseases related to Erythroleukemia, Familial via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 acute erythroid leukemia 12.4
2 anemia, congenital dyserythropoietic, type iii 11.1
3 leukemia 10.5
4 myelodysplastic syndrome 9.9
5 megakaryocytic leukemia 9.9
6 macrocytic anemia 9.9
7 pelger-huet anomaly 9.8
8 leukemia, chronic lymphocytic 2 9.8
9 leukemia, chronic lymphocytic 9.8
10 myeloma, multiple 9.8
11 hemophagocytic lymphohistiocytosis, familial, 2 9.8
12 acute leukemia 9.8
13 vasculitis 9.8
14 leukemia, b-cell, chronic 9.8

Graphical network of the top 20 diseases related to Erythroleukemia, Familial:



Diseases related to Erythroleukemia, Familial

Symptoms & Phenotypes for Erythroleukemia, Familial

Symptoms via clinical synopsis from OMIM:

53
Heme:
erythroid leukemia
red cell proliferation
ineffective hyperplastic erythropoiesis
megaloblastosis
myelodysplasia with sideroblastosis

Lab:
elevated igm
elevated erythrocyte hexokinase
chromosome abnormalities
marrow hypocellularity


Clinical features from OMIM:

133180

Human phenotypes related to Erythroleukemia, Familial:

31
# Description HPO Frequency HPO Source Accession
1 refractory anemia with ringed sideroblasts 31 HP:0004828
2 leukemia 31 HP:0001909

Drugs & Therapeutics for Erythroleukemia, Familial

Search Clinical Trials , NIH Clinical Center for Erythroleukemia, Familial

Genetic Tests for Erythroleukemia, Familial

Anatomical Context for Erythroleukemia, Familial

MalaCards organs/tissues related to Erythroleukemia, Familial:

38
Bone, Bone Marrow, Myeloid

Publications for Erythroleukemia, Familial

Articles related to Erythroleukemia, Familial:

# Title Authors Year
1
First case of bacteremia due to chromosome-encoded CfxA3-beta-lactamase-producing Capnocytophaga sputigena in a pediatric patient with acute erythroblastic leukemia. ( 18499560 )
2008
2
Derivative (1;7)(q10;p10) in a patient with de novo acute erythroblastic leukemia (AML-M6). ( 10565302 )
1999
3
Isochromosome 11q in acute erythroblastic leukemia. ( 1635390 )
1992
4
Clinical, morphologic, and cytogenetic characteristics of 26 patients with acute erythroblastic leukemia. ( 1450412 )
1992
5
Acute erythroblastic leukemia. Cytological, cytogenetic and phenotypic studies in one case. ( 2508392 )
1989
6
Acute erythroblastic leukemia presenting as acute undifferentiated leukemia: a report of two cases with ultrastructural features. ( 3858611 )
1985
7
A case of transformation of an untreated acute lymphocytic leukemia into acute erythroblastic leukemia (Di Guglielmo's disease) ( 3935545 )
1985
8
Acute erythroblastic leukemia terminating a very long-lasting (27 years) Hodgkin's disease. ( 6810628 )
1982
9
Acute erythroblastic leukemia (di guglielmo's disease) as a terminating event in a very-long survivor (27 years) with Hodgkin's disease. ( 6814999 )
1982

Variations for Erythroleukemia, Familial

ClinVar genetic disease variations for Erythroleukemia, Familial:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ERBB3 NM_001982.3(ERBB3): c.4009G> A (p.Ala1337Thr) single nucleotide variant Likely pathogenic rs755855285 GRCh38 Chromosome 12, 56102035: 56102035

Expression for Erythroleukemia, Familial

Search GEO for disease gene expression data for Erythroleukemia, Familial.

Pathways for Erythroleukemia, Familial

GO Terms for Erythroleukemia, Familial

Sources for Erythroleukemia, Familial

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....