FERLK
MCID: ERY051
MIFTS: 45

Erythroleukemia, Familial (FERLK)

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

Aliases & Classifications for Erythroleukemia, Familial

MalaCards integrated aliases for Erythroleukemia, Familial:

Name: Erythroleukemia, Familial 58 76
Leukemia, Acute Myelogenous, M6 58 76
Di Guglielmo Disease, Familial 58 76
Acute Erythroblastic Leukemia 17 74
Ferlk 58 76
Erythroleukemia, Familial, Susceptibility to 58
Leukemia, Erythroblastic, Acute 45
Acute Myeloid Leukemia M6 60
Acute Erythroid Leukemia 60
Erythroleukemia 60
Aml M6 60

Characteristics:

Orphanet epidemiological data:

60
acute erythroid leukemia
Age of onset: Adult;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
incomplete penetrance
late adult onset
one family of north american origin has been reported (last curated october 2018)


HPO:

33
erythroleukemia, familial:
Onset and clinical course incomplete penetrance
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 133180
MeSH 45 D004915
ICD10 via Orphanet 35 C94.0
UMLS via Orphanet 75 C0023440
Orphanet 60 ORPHA318
UMLS 74 C0023440

Summaries for Erythroleukemia, Familial

OMIM : 58 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 ERBB3 (Erb-B2 Receptor Tyrosine Kinase 3), and among its related pathways/superpathways are Factors involved in megakaryocyte development and platelet production and Alzheimers Disease Pathway. Affiliated tissues include bone, myeloid and bone marrow, and related phenotypes are acute myeloid leukemia and refractory anemia with ringed sideroblasts

UniProtKB/Swiss-Prot : 76 Erythroleukemia, familial: An autosomal dominant myeloproliferative disorder characterized by neoplastic proliferation of erythroblastic and myeloblastic elements with atypical erythroblasts and myeloblasts in the peripheral blood. Disease penetrance is incomplete.

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 94)
# Related Disease Score Top Affiliating Genes
1 fetal hemoglobin quantitative trait locus 1 30.1 HBB HBG1
2 thalassemia 29.7 EPO GATA1 HBB HBG1
3 essential thrombocythemia 29.6 EPO EPOR GATA1
4 hemoglobin h disease 29.4 EPO HBB
5 alpha-thalassemia 29.4 EPO HBB HBG1 KLF1
6 beta-thalassemia 29.1 EPO GATA1 HBB HBG1 KLF1
7 acute erythroid leukemia 12.8
8 anemia, congenital dyserythropoietic, type iii 11.3
9 folate malabsorption, hereditary 11.2
10 leukemia 10.7
11 polycythemia 10.2
12 blood protein disease 10.2 HBB HBG1
13 neutrophil-specific granule deficiency 10.2 GATA1 SPI1
14 myelofibrosis 10.1
15 spherocytosis, type 4 10.1 GATA1 KLF1
16 acquired polycythemia 10.1 EPO EPOR
17 paroxysmal nocturnal hemoglobinuria 10.1
18 sarcoma 10.1
19 teratocarcinoma 10.1
20 embryonal carcinoma 10.1
21 hemoglobinuria 10.1
22 hypoxia 10.1
23 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome 10.1 HBB HBG1 KLF1
24 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome 10.1 HBB HBG1 KLF1
25 erythrocytosis, familial, 2 10.1 EPO EPOR
26 splenic disease 10.0 EPO HBB
27 myelodysplastic syndrome 10.0
28 megakaryocytic leukemia 10.0
29 macrocytic anemia 10.0
30 spherocytosis, type 3 10.0 GATA1 HBB KLF1
31 spherocytosis, type 2 10.0 GATA1 HBB KLF1
32 sickle cell disease 10.0 EPO HBB HBG1
33 ovarian cancer 1 10.0
34 hemolytic anemia 10.0
35 lymphoma 10.0
36 anemia of prematurity 10.0 EPO EPOR
37 acute lymphocytic leukemia 10.0
38 sickle cell anemia 10.0 EPO HBB HBG1
39 erythrocytosis, familial, 1 9.9 EPO EPOR
40 leukemia, chronic lymphocytic 2 9.9
41 leukemia, chronic lymphocytic 9.9
42 myeloma, multiple 9.9
43 hemophagocytic lymphohistiocytosis, familial, 2 9.9
44 acute leukemia 9.9
45 lymphocytic leukemia 9.9
46 vasculitis 9.9
47 leukemia, b-cell, chronic 9.9
48 myelodysplastic syndrome with excess blasts 9.9
49 bone marrow cancer 9.9 EPO EPOR GATA1
50 primary polycythemia 9.9 EPO EPOR

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



Diseases related to Erythroleukemia, Familial

Symptoms & Phenotypes for Erythroleukemia, Familial

Human phenotypes related to Erythroleukemia, Familial:

33
# Description HPO Frequency HPO Source Accession
1 acute myeloid leukemia 33 HP:0004808
2 refractory anemia with ringed sideroblasts 33 HP:0004828

Symptoms via clinical synopsis from OMIM:

58
Abdomen Spleen:
splenomegaly

Hematology:
erythroleukemia
acute myelogenous leukemia (aml-m6)
erythroid hyperplasia seen on bone marrow biopsy
dyserythropoiesis
increased blasts
more
Abdomen Liver:
hepatomegaly

Neoplasia:
possible increased risk of solid malignant tumors

Clinical features from OMIM:

133180

GenomeRNAi Phenotypes related to Erythroleukemia, Familial according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.02 EPOR ERBB3 GATA1 HSF2 PTGIR

MGI Mouse Phenotypes related to Erythroleukemia, Familial:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.95 EPO EPOR ERBB3 FLI1 GATA1 HSF2
2 hematopoietic system MP:0005397 9.87 EPO EPOR FLI1 GATA1 KLF1 PTGIR
3 immune system MP:0005387 9.86 EPO EPOR ERBB3 FLI1 GATA1 KLF1
4 embryo MP:0005380 9.85 EPO EPOR ERBB3 FLI1 GATA1 KLF1
5 liver/biliary system MP:0005370 9.63 EPO EPOR FLI1 GATA1 KLF1 SPI1
6 mortality/aging MP:0010768 9.61 EPO EPOR ERBB3 FLI1 GATA1 HSF2
7 normal MP:0002873 9.1 EPO EPOR ERBB3 GATA1 HSF2 SPI1

Drugs & Therapeutics for Erythroleukemia, Familial

Search Clinical Trials , NIH Clinical Center for Erythroleukemia, Familial

Cochrane evidence based reviews: leukemia, erythroblastic, acute

Genetic Tests for Erythroleukemia, Familial

Anatomical Context for Erythroleukemia, Familial

MalaCards organs/tissues related to Erythroleukemia, Familial:

42
Bone, Myeloid, Bone Marrow, Brain, Neutrophil, B Cells, Adrenal Gland

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
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

UniProtKB/Swiss-Prot genetic disease variations for Erythroleukemia, Familial:

76
# Symbol AA change Variation ID SNP ID
1 ERBB3 p.Ala1337Thr VAR_081641

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

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

# Name GO ID Score Top Affiliating Genes
1 hemoglobin complex GO:0005833 8.96 HBB HBG1
2 haptoglobin-hemoglobin complex GO:0031838 8.62 HBB HBG1

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 9.88 EPO FLI1 HSF2 KLF1 SPI1
2 positive regulation of transcription by RNA polymerase II GO:0045944 9.8 FLI1 GATA1 HSF2 KLF1 SPI1
3 positive regulation of transcription, DNA-templated GO:0045893 9.55 EPO FLI1 GATA1 KLF1 SPI1
4 blood coagulation GO:0007596 9.54 GATA1 HBB HBG1
5 platelet aggregation GO:0070527 9.52 GATA1 HBB
6 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.51 EPO NPTN
7 heart development GO:0007507 9.49 EPOR ERBB3
8 transcription by RNA polymerase II GO:0006366 9.46 GATA1 HSF2
9 blood circulation GO:0008015 9.43 EPO FLI1
10 hydrogen peroxide catabolic process GO:0042744 9.32 HBB HBG1
11 oxygen transport GO:0015671 9.26 HBB HBG1
12 erythropoietin-mediated signaling pathway GO:0038162 8.96 EPO EPOR
13 erythrocyte differentiation GO:0030218 8.92 EPO GATA1 KLF1 SPI1

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

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity GO:0003700 9.77 FLI1 GATA1 HSF2 KLF1 SPI1
2 sequence-specific DNA binding GO:0043565 9.76 FLI1 GATA1 HSF2 SPI1
3 RNA polymerase II transcription factor binding GO:0001085 9.48 GATA1 SPI1
4 oxygen binding GO:0019825 9.43 HBB HBG1
5 RNA polymerase II distal enhancer sequence-specific DNA binding GO:0000980 9.43 FLI1 GATA1 SPI1
6 peroxidase activity GO:0004601 9.4 HBB HBG1
7 oxygen carrier activity GO:0005344 9.32 HBB HBG1
8 organic acid binding GO:0043177 9.16 HBB HBG1
9 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.02 FLI1 GATA1 HSF2 KLF1 SPI1
10 haptoglobin binding GO:0031720 8.96 HBB HBG1

Sources for Erythroleukemia, Familial

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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