MCID: ERY051
MIFTS: 49

Erythroleukemia, Familial

Categories: Blood diseases, Cancer diseases, Genetic diseases, Rare 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 fetal hemoglobin quantitative trait locus 1 and thalassemia. An important gene associated with Erythroleukemia, Familial is PTGIR (Prostaglandin I2 Receptor), and among its related pathways/superpathways are NF-kappaB Signaling and Factors involved in megakaryocyte development and platelet production. Affiliated tissues include bone, myeloid and bone marrow, and related phenotypes are refractory anemia with ringed sideroblasts and leukemia

Related Diseases for Erythroleukemia, Familial

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

(show top 50) (show all 82)
# Related Disease Score Top Affiliating Genes
1 fetal hemoglobin quantitative trait locus 1 30.0 HBG1 HBB
2 thalassemia 29.7 HBG1 HBB GATA1 EPO
3 hemoglobin h disease 29.6 HBB EPO
4 essential thrombocythemia 29.5 GATA1 EPOR EPO
5 alpha-thalassemia 29.4 KLF1 HBG1 HBB EPO
6 beta-thalassemia 29.2 KLF1 HBG1 HBB GATA1 EPO
7 acute erythroid leukemia 12.7
8 anemia, congenital dyserythropoietic, type iii 11.3
9 folate malabsorption, hereditary 11.1
10 leukemia 10.6
11 blood protein disease 10.1 HBG1 HBB
12 neutrophil-specific granule deficiency 10.1 SPI1 GATA1
13 spherocytosis, type 4 10.1 KLF1 GATA1
14 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome 10.1 KLF1 HBG1 HBB
15 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome 10.1 KLF1 HBG1 HBB
16 sarcoma 10.1
17 teratocarcinoma 10.1
18 embryonal carcinoma 10.1
19 hypoxia 10.1
20 spherocytosis, type 3 10.0 KLF1 HBB GATA1
21 spherocytosis, type 2 10.0 KLF1 HBB GATA1
22 megakaryocytic leukemia 10.0
23 macrocytic anemia 10.0
24 myelofibrosis 10.0
25 paroxysmal nocturnal hemoglobinuria 10.0
26 hemoglobinuria 10.0
27 acquired polycythemia 10.0 EPOR EPO
28 erythrocytosis, familial, 2 10.0 EPOR EPO
29 splenic disease 9.9 HBB EPO
30 hereditary spherocytosis 9.9 KLF1 HBG1 HBB GATA1
31 anemia of prematurity 9.9 EPOR EPO
32 sickle cell disease 9.9 HBG1 HBB EPO
33 erythrocytosis, familial, 1 9.9 EPOR EPO
34 sickle cell anemia 9.9 HBG1 HBB EPO
35 primary polycythemia 9.9 EPOR EPO
36 leukemia, chronic lymphocytic 2 9.9
37 leukemia, chronic lymphocytic 9.9
38 myeloma, multiple 9.9
39 myelodysplastic syndrome 9.9
40 acute leukemia 9.9
41 lymphocytic leukemia 9.9
42 vasculitis 9.9
43 leukemia, b-cell, chronic 9.9
44 myelodysplastic syndrome with excess blasts 9.9
45 bone marrow cancer 9.8 GATA1 EPOR EPO
46 pelger-huet anomaly 9.8
47 retinoblastoma 9.8
48 neuroblastoma 9.8
49 pyruvate kinase deficiency of red cells 9.8
50 reticulum cell sarcoma 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 refractory anemia with ringed sideroblasts 32 HP:0004828
2 leukemia 32 HP:0001909

MGI Mouse Phenotypes related to Erythroleukemia, Familial:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.91 EPO EPOR FLI1 GATA1 HSF2 PTGIR
2 hematopoietic system MP:0005397 9.86 EPO EPOR FLI1 GATA1 KLF1 PTGIR
3 embryo MP:0005380 9.8 EPO EPOR FLI1 GATA1 KLF1 TAL1
4 immune system MP:0005387 9.76 EPO EPOR FLI1 GATA1 KLF1 PTGIR
5 liver/biliary system MP:0005370 9.43 EPO EPOR FLI1 GATA1 KLF1 SPI1
6 mortality/aging MP:0010768 9.28 EPO EPOR FLI1 GATA1 HSF2 KLF1

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
Bone, Myeloid, Bone Marrow, Brain, Neutrophil, B Cells

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 EPOR NM_000121.3(EPOR): c.1460A> G (p.Asn487Ser) single nucleotide variant Likely benign rs62638745 GRCh37 Chromosome 19, 11488727: 11488727
2 EPOR NM_000121.3(EPOR): c.1460A> G (p.Asn487Ser) single nucleotide variant Likely benign rs62638745 GRCh38 Chromosome 19, 11378051: 11378051
3 ERBB3 NM_001982.3(ERBB3): c.4009G> A (p.Ala1337Thr) single nucleotide variant Likely pathogenic rs755855285 GRCh38 Chromosome 12, 56102035: 56102035
4 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

Cellular components related to Erythroleukemia, Familial according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear chromatin GO:0000790 9.33 KLF1 SPI1 TAL1
2 hemoglobin complex GO:0005833 8.96 HBB HBG1
3 haptoglobin-hemoglobin complex GO:0031838 8.62 HBB HBG1

Biological processes related to Erythroleukemia, Familial according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 9.91 EPO FLI1 HSF2 KLF1 SPI1 TAL1
2 positive regulation of transcription by RNA polymerase II GO:0045944 9.85 FLI1 GATA1 HSF2 KLF1 SPI1 TAL1
3 transcription by RNA polymerase II GO:0006366 9.8 FLI1 GATA1 HSF2 KLF1 TAL1
4 blood coagulation GO:0007596 9.74 GATA1 HBB HBG1
5 platelet aggregation GO:0070527 9.59 GATA1 HBB
6 blood circulation GO:0008015 9.58 EPO FLI1
7 positive regulation of erythrocyte differentiation GO:0045648 9.58 GATA1 TAL1
8 hydrogen peroxide catabolic process GO:0042744 9.56 HBB HBG1
9 myeloid cell differentiation GO:0030099 9.55 GATA1 TAL1
10 regulation of hematopoietic stem cell differentiation GO:1902036 9.54 GATA1 TAL1
11 platelet formation GO:0030220 9.52 GATA1 TAL1
12 embryonic hemopoiesis GO:0035162 9.51 GATA1 TAL1
13 oxygen transport GO:0015671 9.49 HBB HBG1
14 megakaryocyte development GO:0035855 9.48 FLI1 TAL1
15 erythrocyte maturation GO:0043249 9.46 EPO TAL1
16 positive regulation of transcription, DNA-templated GO:0045893 9.43 EPO FLI1 GATA1 KLF1 SPI1 TAL1
17 megakaryocyte differentiation GO:0030219 9.32 GATA1 TAL1
18 erythropoietin-mediated signaling pathway GO:0038162 9.26 EPO EPOR
19 basophil differentiation GO:0030221 9.16 GATA1 TAL1
20 erythrocyte differentiation GO:0030218 9.02 EPO GATA1 KLF1 SPI1 TAL1

Molecular functions related to Erythroleukemia, Familial according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.93 FLI1 GATA1 HSF2 KLF1 SPI1 TAL1
2 sequence-specific DNA binding GO:0043565 9.81 FLI1 GATA1 HSF2 SPI1
3 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.7 GATA1 HSF2 TAL1
4 DNA-binding transcription factor activity GO:0003700 9.63 FLI1 GATA1 HSF2 KLF1 SPI1 TAL1
5 proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001077 9.62 FLI1 GATA1 KLF1 SPI1
6 oxygen binding GO:0019825 9.49 HBB HBG1
7 peroxidase activity GO:0004601 9.48 HBB HBG1
8 oxygen carrier activity GO:0005344 9.43 HBB HBG1
9 RNA polymerase II transcription factor binding GO:0001085 9.43 GATA1 SPI1 TAL1
10 organic acid binding GO:0043177 9.4 HBB HBG1
11 haptoglobin binding GO:0031720 9.37 HBB HBG1
12 RNA polymerase II distal enhancer sequence-specific DNA binding GO:0000980 9.26 FLI1 GATA1 SPI1 TAL1
13 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.1 FLI1 GATA1 HSF2 KLF1 SPI1 TAL1
14 DNA binding GO:0003677 10.01 FLI1 GATA1 HSF2 KLF1 SPI1 TAL1

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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