MCID: ERY051
MIFTS: 25

Erythroleukemia, Familial

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

Aliases & Classifications for Erythroleukemia, Familial

MalaCards integrated aliases for Erythroleukemia, Familial:

Name: Erythroleukemia, Familial 57
Leukemia, Acute Myelogenous, M6 57
Di Guglielmo Disease, Familial 57
Acute Erythroblastic Leukemia 73
Acute Myeloid Leukemia M6 59
Acute Erythroid Leukemia 59
Erythroleukemia 59
Aml M6 59

Characteristics:

Orphanet epidemiological data:

59
acute erythroid leukemia
Age of onset: Adult;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
erythroleukemia, familial:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 133180
Orphanet 59 ORPHA318
ICD10 via Orphanet 34 C94.0
UMLS via Orphanet 74 C0023440
MedGen 42 C1851482
UMLS 73 C0023440

Summaries for Erythroleukemia, Familial

OMIM : 57 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. Affiliated tissues include myeloid, bone and bone marrow, and related phenotypes are leukemia and refractory anemia with ringed sideroblasts

Related Diseases for Erythroleukemia, Familial

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

(show all 12)
# Related Disease Score Top Affiliating Genes
1 acute erythroid leukemia 12.6
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 leukemia, chronic lymphocytic 2 9.8
8 leukemia, chronic lymphocytic 9.8
9 myeloma, multiple 9.8
10 acute leukemia 9.8
11 vasculitis 9.8
12 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:

57
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:

32
# Description HPO Frequency HPO Source Accession
1 leukemia 32 HP:0001909
2 refractory anemia with ringed sideroblasts 32 HP:0004828

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:

41
Myeloid, Bone, Bone Marrow

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
Clinical, morphologic, and cytogenetic characteristics of 26 patients with acute erythroblastic leukemia. ( 1450412 )
1992
4
Isochromosome 11q in acute erythroblastic leukemia. ( 1635390 )
1992
5
Acute erythroblastic leukemia. Cytological, cytogenetic and phenotypic studies in one case. ( 2508392 )
1989
6
A case of transformation of an untreated acute lymphocytic leukemia into acute erythroblastic leukemia (Di Guglielmo's disease) ( 3935545 )
1985
7
Acute erythroblastic leukemia presenting as acute undifferentiated leukemia: a report of two cases with ultrastructural features. ( 3858611 )
1985
8
Acute erythroblastic leukemia (di guglielmo's disease) as a terminating event in a very-long survivor (27 years) with Hodgkin's disease. ( 6814999 )
1982
9
Acute erythroblastic leukemia terminating a very long-lasting (27 years) Hodgkin's disease. ( 6810628 )
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
2 ERBB3 NM_001982.3(ERBB3): c.4009G> A (p.Ala1337Thr) single nucleotide variant Likely pathogenic rs755855285 GRCh37 Chromosome 12, 56495819: 56495819

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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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