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 56 73
Erythroleukemia 58 54 17
Leukemia, Acute Myelogenous, M6 56 73
Acute Myeloid Leukemia, M6 Type 29 6
Di Guglielmo Disease, Familial 56 73
Acute Erythroblastic Leukemia 17 71
Ferlk 56 73
Erythroleukemia, Familial, Susceptibility to 56
Leukemia, Erythroblastic, Acute 43
Acute Myeloid Leukemia M6 58
Acute Erythroid Leukemia 58
Aml M6 58


Orphanet epidemiological data:

acute erythroid leukemia
Age of onset: Adult;


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

autosomal dominant


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


Orphanet: 58  
Rare haematological diseases

External Ids:

OMIM 56 133180
MeSH 43 D004915
ICD10 via Orphanet 33 C94.0
UMLS via Orphanet 72 C0023440
Orphanet 58 ORPHA318
UMLS 71 C0023440

Summaries for Erythroleukemia, Familial

OMIM : 56 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 erythroleukemia, is related to anemia, congenital dyserythropoietic, type iii and polycythemia. 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. The drugs Mesna and Fludarabine have been mentioned in the context of this disorder. Affiliated tissues include myeloid, bone and bone marrow, and related phenotypes are anemia and refractory anemia with ringed sideroblasts

UniProtKB/Swiss-Prot : 73 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 206)
# Related Disease Score Top Affiliating Genes
1 anemia, congenital dyserythropoietic, type iii 32.3 KLF1 GATA1
2 polycythemia 30.3 NFE2 HBB EPOR EPO
3 fetal hemoglobin quantitative trait locus 1 29.9 HBG1 HBB
4 polycythemia vera 29.7 NFE2 EPOR EPO
5 hemoglobinopathy 29.6 KLF1 HBG1 HBB EPO
6 myelofibrosis 29.6 NFE2 GATA1 EPOR EPO
7 sickle cell anemia 29.6 HBG1 HBB EPO
8 hemolytic anemia 29.6 KLF1 HBG1 HBB EPO
9 pure red-cell aplasia 29.5 EPOR EPO
10 congenital dyserythropoietic anemia 29.4 KLF1 GATA1 EPO
11 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 29.4 HBB GATA1 EPOR EPO
12 deficiency anemia 29.3 HBB GATA1 EPOR EPO
13 thrombocytopenia 29.3 NFE2 GATA1 FLI1 EPO
14 thalassemia 29.2 KLF1 HBG1 HBB GATA1 EPO
15 myeloproliferative neoplasm 29.2 SPI1 GATA1 EPOR EPO
16 essential thrombocythemia 29.1 NFE2 GATA1 EPOR EPO
17 hereditary spherocytosis 29.0 NFE2 KLF1 HBG1 HBB GATA1
18 alpha-thalassemia 28.8 KLF1 HBG1 HBB GATA1 EPO
19 beta-thalassemia 28.5 KLF1 HBG1 HBB GATA1 EPOR EPO
20 acute erythroid leukemia 12.9
21 folate malabsorption, hereditary 11.3
22 leukemia 10.5
23 splenomegaly 10.5
24 pertussis 10.4
25 leukemia, acute myeloid 10.4
26 myelodysplastic syndrome 10.4
27 retinoblastoma 10.3
28 familial retinoblastoma 10.3
29 helix syndrome 10.2
30 acute leukemia 10.2
31 myeloid leukemia 10.2
32 refractory anemia with excess blasts in transformation 10.2
33 erythrocytosis, familial, 8 10.2 HBB EPOR
34 insulin-like growth factor i 10.2
35 fetal hemoglobin quantitative trait locus 6 10.2
36 embryonal carcinoma 10.2
37 neuroblastoma 10.2
38 herpes simplex 10.2
39 chromosomal triplication 10.2
40 neutrophil-specific granule deficiency 10.2 SPI1 GATA1
41 myelodysplastic syndrome with excess blasts 10.2
42 anemia, congenital dyserythropoietic, type ib 10.1 KLF1 GATA1
43 anemia, congenital dyserythropoietic, type iv 10.1 KLF1 GATA1
44 paroxysmal nocturnal hemoglobinuria 10.1
45 disseminated intravascular coagulation 10.1
46 allergic hypersensitivity disease 10.1
47 cholera 10.1
48 hemoglobinuria 10.1
49 diabetes insipidus 10.1
50 48,xyyy 10.1

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:

58 31 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 anemia 58 31 Frequent (79-30%) HP:0001903
2 refractory anemia with ringed sideroblasts 58 31 Frequent (79-30%) HP:0004828
3 splenomegaly 31 HP:0001744
4 hepatomegaly 31 HP:0002240
5 thrombocytopenia 31 HP:0001873
6 bone marrow hypocellularity 58 Occasional (29-5%)
7 pancytopenia 58 Frequent (79-30%)
8 leukopenia 58 Frequent (79-30%)
9 acute myeloid leukemia 31 HP:0004808
10 abnormal proerythroblast morphology 58 Frequent (79-30%)
11 erythroid hyperplasia 31 HP:0012132
12 bone marrow hypercellularity 58 Frequent (79-30%)
13 erythroid hypoplasia 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

Abdomen Spleen:

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

possible increased risk of solid malignant tumors

Clinical features from OMIM:


MGI Mouse Phenotypes related to Erythroleukemia, Familial:

# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.97 EPO EPOR ERBB3 FLI1 GATA1 HSF2
2 immune system MP:0005387 9.86 EPO EPOR ERBB3 FLI1 GATA1 KLF1
3 embryo MP:0005380 9.8 EPO EPOR ERBB3 FLI1 GATA1 KLF1
4 liver/biliary system MP:0005370 9.63 EPO EPOR FLI1 GATA1 KLF1 SPI1
5 mortality/aging MP:0010768 9.61 EPO EPOR ERBB3 FLI1 GATA1 HSF2
6 normal MP:0002873 9.1 EPO EPOR ERBB3 GATA1 HSF2 SPI1

Drugs & Therapeutics for Erythroleukemia, Familial

Drugs for Erythroleukemia, Familial (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 197)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Mesna Approved, Investigational Phase 3 3375-50-6 598
Fludarabine Approved Phase 2, Phase 3 21679-14-1, 75607-67-9 30751
Vincristine Approved, Investigational Phase 3 57-22-7, 2068-78-2 5978
leucovorin Approved Phase 3 58-05-9 6006 143
Methotrexate Approved Phase 3 59-05-2, 1959-05-2 126941
Mitoxantrone Approved, Investigational Phase 3 65271-80-9 4212
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
Mercaptopurine Approved Phase 3 50-44-2 667490
Cladribine Approved, Investigational Phase 3 4291-63-8 20279
Etoposide Approved Phase 3 33419-42-0 36462
Idarubicin Approved Phase 3 58957-92-9 42890
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
Melphalan Approved Phase 3 148-82-3 460612 4053
Hydrocortisone Approved, Vet_approved Phase 3 50-23-7 5754
Hydrocortisone acetate Approved, Vet_approved Phase 3 50-03-3
Thioguanine Approved Phase 3 154-42-7 2723601
Arsenic trioxide Approved, Investigational Phase 2, Phase 3 1327-53-3 518740
alemtuzumab Approved, Investigational Phase 2, Phase 3 216503-57-0
Sargramostim Approved, Investigational Phase 3 83869-56-1, 123774-72-1
Clofarabine Approved, Investigational Phase 2, Phase 3 123318-82-1 119182
Carmustine Approved, Investigational Phase 3 154-93-8 2578
Amsacrine Approved, Investigational Phase 3 51264-14-3 2179
Hydroxyurea Approved Phase 3 127-07-1 3657
Daunorubicin Approved Phase 3 20830-81-3 30323
Cytarabine Approved, Experimental, Investigational Phase 3 147-94-4, 65-46-3 6253
Azacitidine Approved, Investigational Phase 3 320-67-2 9444
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
Decitabine Approved, Investigational Phase 3 2353-33-5 451668
midostaurin Approved, Investigational Phase 3 120685-11-2 104937 9829523
Histamine Approved, Investigational Phase 3 51-45-6 774
Cyproheptadine Approved Phase 3 129-03-3 2913
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
Tretinoin Approved, Investigational, Nutraceutical Phase 3 302-79-4 444795 5538
Aspartic acid Approved, Nutraceutical Phase 3 56-84-8 5960
36 Lintuzumab Investigational Phase 3 166089-32-3
tipifarnib Investigational Phase 3 192185-72-1 159324
38 Molgramostim Investigational Phase 3 99283-10-0
39 Immunoglobulins Phase 3
40 Antibodies Phase 3
41 Antibodies, Monoclonal Phase 3
42 Immunologic Factors Phase 2, Phase 3
43 Immunosuppressive Agents Phase 2, Phase 3
44 Alkylating Agents Phase 2, Phase 3
45 Etoposide phosphate Phase 3
46 Antineoplastic Agents, Immunological Phase 3
47 Gemtuzumab Phase 3
48 Vitamin B Complex Phase 3
49 Folate Phase 3
50 Folic Acid Antagonists Phase 3

Interventional clinical trials:

(show top 50) (show all 194)
# Name Status NCT ID Phase Drugs
1 The Treatment of Down Syndrome Children With Acute Myeloid Leukemia (AML) and Myelodysplastic Syndromes (MDS) Under the Age of 4 Years Unknown status NCT00369317 Phase 3 asparaginase;daunorubicin hydrochloride;cytarabine;thioguanine;etoposide
2 Phase III, Randomized, Multicenter Study to Assess the Efficacy and Safety of HuM195 (Recombinant Humanized Anti-CD33 Monoclonal Antibody) in Combination With Standardized Chemotherapy Compared to Standardized Chemotherapy Alone in the Treatment of Patients With Refractory or First-Relapsed Acute Myelogenous Leukemia (AML) Unknown status NCT00006045 Phase 3 cytarabine;etoposide;mitoxantrone hydrochloride
3 The Value of High Dose Versus Standard Dose ARA-C During Induction and of IL-2 After Intensive Consolidation/Autologous Stem Cell Transplantation in Patients (Age 15-60 Years) With Acute Myelogenous Leukemia. A Randomized Phase II Trial of the EORTC and the GIMEMA-ALWP Unknown status NCT00004128 Phase 3 busulfan;cyclophosphamide;cytarabine;daunorubicin hydrochloride;etoposide
4 RANDOMIZED PHASE III STUDY OF INDUCTION (ICE VS MICE VS DCE) AND INTENSIVE CONSOLIDATION (IDIA VS NOVIA VS DIA) FOLLOWED BY BONE MARROW TRANSPLANTATION IN ACUTE MYELOGENOUS LEUKEMIA: AML 10 PROTOCOL Unknown status NCT00002549 Phase 3 busulfan;cyclophosphamide;cytarabine;daunorubicin hydrochloride;etoposide;idarubicin;mesna;mitoxantrone hydrochloride
5 ACUTE MYELOID LEUKAEMIA TRIAL 12 Unknown status NCT00002658 Phase 3 amsacrine;cyclophosphamide;cytarabine;daunorubicin hydrochloride;etoposide;idarubicin;mitoxantrone hydrochloride;thioguanine;tretinoin
6 A Phase 3, Randomized, Double-Blind, Multicenter Study of Proteinase 3 PR1 Peptide Mixed With Montanide ISA-51 VG Adjuvant and Administered With GM-CSF in Elderly Patients With AML in First Complete Remission or Adults in Second Complete Remission: A Pivotal Study Unknown status NCT00454168 Phase 3
7 Gemtuzumab Ozogamicin (GO) Monotherapy Versus Standard Supportive Care for Previously Untreated AML in Elderly Patients Who Are Not Eligible for Intensive Chemotherapy: A Randomized Phase II/III Trial (AML-19) of the EORTC-LG and GIMEMA-ALWP Unknown status NCT00091234 Phase 2, Phase 3 gemtuzumab ozogamicin
8 A Collaborative Trial for the Treatment of Patients With Newly Diagnosed Acute Myeloid Leukemia or Myelodysplasia Completed NCT00136084 Phase 3 Cladribine, Cyclophosphamide, Cytarabine, Daunorubicin, Dexamethasone;Etoposide, Cytarabine, Gemtuzumab, L-asparaginase, Mercaptopurine, methotrexate, Mitoxantrone, Prednisone, Vincristine
9 Protocol for Patients With High Risk (Resistant, Refractory, Relapsed or Adverse Cytogenetic) AML Completed NCT00005863 Phase 3 cytarabine;daunorubicin hydrochloride;etoposide;fludarabine phosphate;tretinoin
10 A PHASE III STUDY IN CHILDREN WITH UNTREATED ACUTE MYELOGENOUS LEUKEMIA (AML) OR MYELODYSPLASTIC SYNDROME (MDS) Completed NCT00002798 Phase 3 asparaginase;daunorubicin hydrochloride;fludarabine phosphate;therapeutic hydrocortisone;cytarabine;idarubicin;dexamethasone;thioguanine;etoposide;methotrexate;cyclophosphamide;busulfan
11 A Phase III Randomized Study of Farnesyl Transferase Inhibitor R115777 in Acute Myeloid Leukemia (AML) Patients in Second or Subsequent Remission or in Remission After Primary Induction Failure or Patients Over Age 60 in First Remission Completed NCT00093470 Phase 3 Tipifarnib
12 A Phase III Study of Flt3 Ligand (Flt3L) Therapy in Acute Myeloid Leukemia (AML) Patients in Remission Completed NCT00006223 Phase 3
13 Phase III Study of MDR Modulation With PSC-833 (NSC #648265) Followed by Immunotherapy With rIL-2 (NSC #373364) vs. No Further Therapy in Previously Untreated Patients With AML >60 Years Completed NCT00003190 Phase 3 cytarabine;daunorubicin hydrochloride;etoposide;valspodar
14 High-Dose Cytarabine and Idarubicin Induction, High Dose Etoposide and Cyclophosphamide Intensification, Autologous Stem Cell Transplantation and Interleukin-2 Immune Modulation in Previously Untreated De Novo and Secondary Adult Myeloid Leukemia Completed NCT00002945 Phase 3 cyclophosphamide;cytarabine;etoposide;idarubicin;melphalan
16 Gemtuzumab Ozogamicin (GO) Combined With Standard Intensive Chemotherapy Versus Standard Intensive Chemotherapy Alone For Induction/Consolidation In Patients 61-75 Years Old With Previously Untreated AML: A Randomized Phase III Trial (AML-17) Of The EORTC-LG and the GIMEMA-ALWP Completed NCT00052299 Phase 3 cytarabine;etoposide;gemtuzumab ozogamicin;idarubicin;mitoxantrone hydrochloride
17 Phase III Randomized Study of Induction Chemotherapy With or Without MDR-Modulation With PSC-833 (NSC # 648265, IND # 41121) Followed by Cytogenetic Risk-Adapted Intensification Therapy Followed by Immunotherapy With rIL-2 (NSC # 373364, IND # 1969) vs. Observation in Previously Untreated Patients With AML < 60 Years Completed NCT00006363 Phase 3 cytarabine;daunorubicin hydrochloride;etoposide;valspodar;busulfan
18 A Phase III Study of the Addition of Gemtuzumab Ozogamicin (Mylotarg®) During Induction Therapy Versus Standard Induction With Daunomycin and Cytosine Arabinoside Followed by Consolidation and Subsequent Randomization to Post-Consolidation Therapy With Gemtuzumab Ozogamicin (Mylotarg®) or No Additional Therapy For Patients Under Age 61 With Previously Untreated De Novo Acute Myeloid Leukemia (AML) Completed NCT00085709 Phase 3 gemtuzumab ozogamicin;Cytosine arabinoside;Daunomycin
19 A Randomized Trial for Patients With Acute Myeloid Leukemia or High Risk Myelodysplatic Syndrome Aged 60 or Over Completed NCT00005823 Phase 3 cytarabine;daunorubicin hydrochloride;etoposide;hydroxyurea;idarubicin;mitoxantrone hydrochloride;thioguanine;tretinoin;valspodar
20 A Randomized, Placebo-Controlled, Double Blind, Trial of the Administration of the MDR Modulator, Zosuquidar Trihydrochloride (LY335979), During Conventional Induction and Post-Remission Therapy in Patients Greater Than 60 Years of Age With Newly Diagnosed Acute Myeloid Leukemia, Refractory Anemia With Excess Blasts in Transformation or High-Risk Refractory Anemia With Excess Blasts Completed NCT00046930 Phase 3 cytarabine;daunorubicin hydrochloride;zosuquidar trihydrochloride;Placebo
21 A Phase III Randomized of Cloretazine™ (VNP40101M) and Cytosine Arabinoside (AraC) in Patients With Acute Myeloid Leukemia in First Relapse Completed NCT00112554 Phase 3 cytarabine;laromustine
22 IDA VS MTZ IN INDUCTION AND INTENSIFICATION TREATMENT OF AML OR MDS IN CHILDREN, A PHASE III RANDOMIZED STUDY Completed NCT00002517 Phase 3 cytarabine;daunorubicin hydrochloride;dexamethasone;etoposide;idarubicin;mitoxantrone hydrochloride;thioguanine
23 A Phase III Randomized Trial of Gemtuzumab Ozogamicin (Mylotarg) Combined With Conventional Chemotherapy for De Novo Acute Myeloid Leukemia (AML) in Children, Adolescents, and Young Adults Completed NCT00372593 Phase 3 asparaginase;cytarabine;daunorubicin hydrochloride;etoposide;gemtuzumab ozogamicin;mitoxantrone hydrochloride
24 Randomised Induction and Post Induction Therapy in Older Patients (≥61 Years of Age) With Acute Myeloid Leukemia (AML) and Refractory Anemia With Excess Blasts (RAEB, RAEB-t) Completed NCT00121303 Phase 3 cytarabine;daunorubicin hydrochloride;gemtuzumab ozogamicin
25 Treatment of Children With Down Syndrome (DS) and Acute Myeloid Leukemia (AML), Myelodysplastic Syndrome (MDS), and Transient Myeloproliferative Disorder (TMD): A Phase III Group-Wide Study Completed NCT00003593 Phase 3 asparaginase;cytarabine;daunorubicin hydrochloride;methotrexate;therapeutic hydrocortisone;thioguanine
26 A Programme of Treatment Development for Older Patients With Acute Myeloid Leukemia and High Risk Myelodysplastic Syndrome Completed NCT00454480 Phase 2, Phase 3 arsenic trioxide;azacitidine;busulfan;clofarabine;cytarabine;daunorubicin hydrochloride;fludarabine phosphate;gemtuzumab ozogamicin;melphalan;tipifarnib
27 Phase III Randomized Trial of Clofarabine as Induction and Post-Remission Therapy vs. Standard Daunorubicin &Amp; Cytarabine Induction and Intermediate Dose Cytarabine Post-Remission Therapy, Followed by Decitabine Maintenance vs. Observation in Newly-Diagnosed Acute Myeloid Leukemia in Older Adults (Age >/= 60 Years) Active, not recruiting NCT02085408 Phase 3 clofarabine;daunorubicin hydrochloride;cytarabine;decitabine
28 A Phase III Randomized, Double-Blind Study of Induction (Daunorubicin/Cytarabine) and Consolidation (High-Dose Cytarabine) Chemotherapy + Midostaurin (PKC412) (IND #101261) or Placebo in Newly Diagnosed Patients < 60 Years of Age With FLT3 Mutated Acute Myeloid Leukemia (AML) Active, not recruiting NCT00651261 Phase 3 cytarabine;daunorubicin;midostaurin;dexamethasone acetate
29 Prevention of Cancer/Treatment-Related Weight Loss in Children at High Nutritional Risk Terminated NCT01132547 Phase 3 cyproheptadine hydrochloride
30 Treatment of Relapsed Acute Myelogenous Leukemia Consisting of Intermediate Dose Cytosine Arabinoside (ARA-C) Plus Interspaced Continuous Infusion Idarubicin, Followed by Continuous Infusion of Low-Dose ARA-C, A Phase II Study by the EORTC-LCG Unknown status NCT00003758 Phase 2 cytarabine;idarubicin
31 Treatment Protocol for Patients With Standard Risk Acute Myelogenous Leukemia and Its Variants: Induction Using High-Dose Cytarabine, Mitoxantrone and Ethyol; Consolidation With Cytarabine and Idarubicin and Maintenance With 13 Cis Retinoic Acid and Alpha Interferon Unknown status NCT00003405 Phase 2 amifostine trihydrate;bromodeoxyuridine;cytarabine;idarubicin;idoxuridine;isotretinoin;mitoxantrone hydrochloride
32 Phase II, Open-Label Study of HuM195 (Humanized Anti-CD33 Monoclonal Antibody) Administered to Patients With Acute Myelogenous Leukemia (AML) Who Are Documented Regimen Failures (RF) of the Control Arm of Study 195-301 Unknown status NCT00006084 Phase 2
33 A Phase II Study of Cloretazine® (VNP40101M) for Elderly Patients With De Novo Poor Risk Acute Myelogenous Leukemia Unknown status NCT00354276 Phase 2 cytarabine;laromustine
34 Clofarabine in Combination With a Standard Remission Induction Regimen (AraC and Idarubicin) in Patients 18-60 Years Old With Previously Untreated Intermediate and Bad Risk Acute Myelogenous Leukemia (AML) or High Risk Myelodysplasia (MDS) : a Phase I-II Study of the EORTC-LG and GIMEMA (AML-14A Trial) Unknown status NCT00838240 Phase 1, Phase 2 clofarabine;cytarabine;idarubicin
35 A Phase 2 Study of Suberoylanilide Hydroxamic Acid (SAHA) in Acute Myeloid Leukemia (AML) Completed NCT00305773 Phase 2 vorinostat;vorinostat
36 A Phase II Study of CPX-351 for Treatment of AML or Higher Risk MDS Relapsed or Refractory to Prior Therapy With Hypomethylating (HMA) Agent Completed NCT02019069 Phase 2 liposomal cytarabine-daunorubicin CPX-351
37 Autologous Bone Marrow Transplantation for Patients With Acute Myelogenous Leukemia or Myelodysplastic Syndrome - A Phase II Pilot Study Completed NCT00004899 Phase 2 busulfan;etoposide
38 Evaluation of Allogeneic Peripheral Blood Stem Cell Transplants From a Related Donor Without Graft-Versus-Host Prophylaxis in Patients With High Risk of Relapse Completed NCT00003396 Phase 2 cyclophosphamide;melphalan
39 Purine-Analog-Containing Non-Myeloablative Allogeneic Stem Cell Transplantation for Treatment of Hematologic Malignancies and Severe Aplastic Anemia Completed NCT00006379 Phase 2 cyclophosphamide;fludarabine phosphate
40 A Pilot Study of Unrelated Umbilical Cord Blood Transplantation in Patients With High Risk Hematologic Malignancies Completed NCT00003335 Phase 2 busulfan;cyclosporine;melphalan;methylprednisolone
41 ALLOGENEIC AND SYNGENEIC MARROW TRANSPLANTATION IN PATIENTS WITH ACUTE NON-LYMPHOCYTIC LEUKEMIA Completed NCT00002547 Phase 2 busulfan;cyclophosphamide;cyclosporine;cytarabine;methotrexate
42 A Phase 2 Study of the AKT Kinase Inhibitor MK-2206 in Patients With Relapsed Refractory Acute Myelogenous Leukemia Completed NCT01253447 Phase 2 Akt inhibitor MK2206
43 Phase II Study of Alvocidib (NSC 649890, Flavopiridol) in Timed Sequential Combination With Cytosine Arabinoside (Ara-C) and Mitoxantrone for Adults With Newly Diagnosed, Previously Untreated, Poor-Risk Acute Myelogenous Leukemias Completed NCT00407966 Phase 2 alvocidib;cytarabine;mitoxantrone hydrochloride
44 Phase 2 Trial of R115777 in Previously Untreated Older Adults With AML and Baseline Presence of a Specific 2-Gene Expression Signature Ratio Completed NCT01361464 Phase 2 Tipifarnib
45 A Phase II Study of Lenalidomide (REVLIMID, NSC-703813) for Previously Untreated Non-M3, Deletion 5q Acute Myeloid Leukemia (AML) in Patients Age 60 or Older Who Decline Remission Induction Chemotherapy Completed NCT00352365 Phase 2 lenalidomide
46 A Randomized Phase II Trial of Tipifarnib (R115777, ZARNESTRA, NSC #702818) in Combination With Oral Etoposide (VP-16) in Elderly Adults With Newly Diagnosed, Previously Untreated Acute Myelogenous Leukemia (AML) Completed NCT00602771 Phase 2 tipifarnib;etoposide
47 A Randomized Phase II Study of Nuclear Factor-kappa B (NF-κB) Inhibition During Induction Chemotherapy for Patients With Acute Myelogenous Leukemia Completed NCT02144675 Phase 2 choline magnesium trisalicylate;idarubicin;cytarabine
48 A Phase 1/2 Study of Vorinostat (Zolinza®) in Combination With Gemtuzumab Ozogamicin (Mylotarg®) and Azacitidine (Vidaza®) in Patients 50 Years of Age and Older With Relapsed/Refractory Non-APL Acute Myeloid Leukemia (AML) Completed NCT00895934 Phase 1, Phase 2 vorinostat;gemtuzumab ozogamicin;azacitidine
49 Phase II Trial of Arsenic Trioxide in Relapsed and Refractory Acute Myeloid Leukemia, Secondary Leukemia, and/or Newly-Diagnosed Patients Greater Than or Equal to 65 Years Old Completed NCT00005795 Phase 2 arsenic trioxide

Search NIH Clinical Center for Erythroleukemia, Familial

Cochrane evidence based reviews: leukemia, erythroblastic, acute

Genetic Tests for Erythroleukemia, Familial

Genetic tests related to Erythroleukemia, Familial:

# Genetic test Affiliating Genes
1 Acute Myeloid Leukemia, M6 Type 29 ERBB3

Anatomical Context for Erythroleukemia, Familial

MalaCards organs/tissues related to Erythroleukemia, Familial:

Myeloid, Bone, Bone Marrow, Spleen, T Cells, Lung, Nk Cells

Publications for Erythroleukemia, Familial

Articles related to Erythroleukemia, Familial:

(show top 50) (show all 4631)
# Title Authors PMID Year
A germline ERBB3 variant is a candidate for predisposition to erythroid MDS/erythroleukemia. 56 6 61
27416908 2016
Missense mutation of the erythropoietin receptor is a rare event in human erythroid malignancies. 61 54 56
8608241 1996
Epitaph for erythroleukemia. 56 61
15339700 2004
Erythroleukemia: a need for a new definition. 56 61
12145675 2002
Autocrine stimulation by erythropoietin and autonomous growth of human erythroid leukemic cells in vitro. 56 61
1653276 1991
Familial erythroleukemia: four cases of the Diguglielmo syndrome in close relatives. 56 61
6948132 1982
Di Guglielmo and his syndromes. 56
12648062 2003
World Health Organization classification of neoplastic diseases of the hematopoietic and lymphoid tissues: report of the Clinical Advisory Committee meeting-Airlie House, Virginia, November 1997. 56
10577857 1999
Clinical and cytogenetic features of familial erythroleukaemia. 56
3471269 1987
Proposed revised criteria for the classification of acute myeloid leukemia. A report of the French-American-British Cooperative Group. 56
3862359 1985
Familial DiGuglielmo syndrome. 56
6589033 1984
Familial erythroleukaemia: a cytogenetic and haematological study. 56
274807 1978
USF and NF-E2 cooperate to regulate the recruitment and activity of RNA polymerase II in the beta-globin gene locus. 61 54
20236933 2010
Activation of the N-terminally truncated form of the Stk receptor tyrosine kinase Sf-Stk by Friend virus-encoded gp55 is mediated by cysteine residues in the ecotropic domain of gp55 and the extracellular domain of Sf-Stk. 54 61
20016000 2010
Delivery of antisense oligodeoxyribonucleotide lipopolyplex nanoparticles assembled by microfluidic hydrodynamic focusing. 54 61
19716852 2010
Immobilization, stabilization, and activation of human stem cell factor (SCF) on fragmin/protamine microparticle (F/P MP)-coated plates. 54 61
19637375 2010
Posttranslational stability of the heme biosynthetic enzyme ferrochelatase is dependent on iron availability and intact iron-sulfur cluster assembly machinery. 61 54
19965627 2010
PU.1 directly regulates cdk6 gene expression, linking the cell proliferation and differentiation programs in erythroid cells. 61 54
19955566 2010
Regulated expression of the alpha isoform of the human thromboxane A2 receptor during megakaryocyte differentiation: a coordinated role for WT1, Egr1, and Sp1. 61 54
19747485 2009
Induction of hyperproliferative fetal megakaryopoiesis by an N-terminally truncated GATA1 mutant. 61 54
19682090 2009
Stat3 promotes the development of erythroleukemia by inducing Pu.1 expression and inhibiting erythroid differentiation. 61 54
19581930 2009
Enrichment of Sca1+ hematopoietic progenitors in polycythemic mice inhibits leukemogenesis. 54 61
19584401 2009
Continuous Fli-1 expression plays an essential role in the proliferation and survival of F-MuLV-induced erythroleukemia and human erythroleukemia. 61 54
19282832 2009
Regulation of hematopoietic cell development and function by Stat3. 54 61
19482615 2009
Nuclear translocation of active AKT is required for erythroid differentiation in erythropoietin treated K562 erythroleukemia cells. 54 61
18694847 2009
The inhibitory effect of the proinflammatory cytokine TNFalpha on erythroid differentiation involves erythroid transcription factor modulation. 61 54
19212691 2009
Human stem cell factor (SCF) is a heparin-binding cytokine. 61 54
19074504 2009
Transcriptional regulation of the human prostacyclin receptor gene is dependent on Sp1, PU.1 and Oct-1 in megakaryocytes and endothelial cells. 61 54
19118563 2009
Regulation of transferrin receptor 2 in human cancer cell lines. 54 61
19019709 2009
Wild-type JAK2 secondary acute erythroleukemia developing after JAK2-V617F-mutated primary myelofibrosis. 61 54
19713696 2009
Phorbol 12-myristate 13-acetate (PMA) responsive sequence in Galphaq promoter during megakaryocytic differentiation. Regulation by EGR-1 and MAP kinase pathway. 54 61
18989526 2008
Prostacyclin receptor-induced STAT3 phosphorylation in human erythroleukemia cells is mediated via Galpha(s) and Galpha(16) hybrid signaling. 61 54
18755267 2008
[Effects of some traditional Chinese drugs on Mdr1 gene and its expression product in K562/A02 cells]. 61 54
18718061 2008
EKLF restricts megakaryocytic differentiation at the benefit of erythrocytic differentiation. 61 54
18523154 2008
The Wilms' tumor suppressor Wt1 activates transcription of the erythropoietin receptor in hematopoietic progenitor cells. 61 54
18424770 2008
The role of the proto-oncogene ETS2 in acute megakaryocytic leukemia biology and therapy. 61 54
18094719 2008
HLA-G turns off erythropoietin receptor signaling through JAK2 and JAK2 V617F dephosphorylation: clinical relevance in polycythemia vera. 61 54
18059484 2008
WP1066, a novel JAK2 inhibitor, suppresses proliferation and induces apoptosis in erythroid human cells carrying the JAK2 V617F mutation. 54 61
18245540 2008
PU.1: a crucial and versatile player in hematopoiesis and leukemia. 54 61
17374502 2008
Human telomerase is regulated by erythropoietin and transforming growth factor-beta in human erythroid progenitor cells. 54 61
17713555 2007
Changes in the expression of cytochrome P450 genes in hemin-induced differentiated K562 cells. 61 54
17917270 2007
Multidrug resistance inhibition by antisense oligonucleotide against MDR1/mRNA in P-glycoprotein expressing leukemic cells. 54 61
17852455 2007
Lovastatin suppresses erythropoietin receptor surface expression through dual inhibition of glycosylation and geranylgeranylation. 54 61
17586475 2007
Elevated NF-kappaB responses and FLIP levels in leukemic but not normal lymphocytes: reduction by salicylate allows TNF-induced apoptosis. 54 61
17646662 2007
Post-transcriptional regulation of P-glycoprotein expression in cancer cell lines. 61 54
17579122 2007
SATB1 regulates SPARC expression in K562 cell line through binding to a specific sequence in the third intron. 61 54
17343824 2007
Inhibition of human pancreatic ribonuclease by the human ribonuclease inhibitor protein. 54 61
17350650 2007
Heat shock factor 2 (HSF2) contributes to inducible expression of hsp genes through interplay with HSF1. 61 54
17213196 2007
Cyclic nucleotide response element binding (CREB) protein activation is involved in K562 erythroleukemia cells differentiation. 61 54
17063485 2007
Early growth response transcription factor EGR-1 regulates Galphaq gene in megakaryocytic cells. 61 54
16995904 2006

Variations for Erythroleukemia, Familial

ClinVar genetic disease variations for Erythroleukemia, Familial:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ERBB3 NM_001982.3(ERBB3):c.4009G>A (p.Ala1337Thr)SNV Likely pathogenic 253223 rs755855285 12:56495819-56495819 12:56102035-56102035

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

# Symbol AA change Variation ID SNP ID
1 ERBB3 p.Ala1337Thr VAR_081641 rs755855285

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 protein-DNA complex GO:0032993 9.26 NFE2 GATA1
2 hemoglobin complex GO:0005833 9.16 HBG1 HBB
3 nuclear chromatin GO:0000790 9.1 SPI1 NFE2 KLF1 HSF2 GATA1 FLI1
4 haptoglobin-hemoglobin complex GO:0031838 8.96 HBG1 HBB

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, DNA-templated GO:0006355 9.93 SPI1 NFE2 KLF1 HSF2 GATA1 FLI1
2 positive regulation of transcription by RNA polymerase II GO:0045944 9.91 SPI1 KLF1 HSF2 GATA1 FLI1
3 regulation of transcription by RNA polymerase II GO:0006357 9.73 SPI1 NFE2 KLF1 HSF2 FLI1 EPO
4 blood coagulation GO:0007596 9.67 NFE2 HBG1 HBB GATA1
5 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.58 ERBB3 EPOR EPO
6 platelet aggregation GO:0070527 9.52 HBB GATA1
7 positive regulation of Ras protein signal transduction GO:0046579 9.49 EPOR EPO
8 hydrogen peroxide catabolic process GO:0042744 9.48 HBG1 HBB
9 oxygen transport GO:0015671 9.43 HBG1 HBB
10 positive regulation of transcription, DNA-templated GO:0045893 9.43 SPI1 NFE2 KLF1 GATA1 FLI1 EPO
11 blood circulation GO:0008015 9.33 NFE2 FLI1 EPO
12 erythropoietin-mediated signaling pathway GO:0038162 9.32 EPOR EPO
13 erythrocyte differentiation GO:0030218 8.92 SPI1 KLF1 GATA1 EPO

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.81 SPI1 HSF2 GATA1 FLI1
2 sequence-specific DNA binding GO:0043565 9.77 SPI1 NFE2 HSF2 GATA1 FLI1
3 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.76 SPI1 HSF2 GATA1 FLI1
4 peroxidase activity GO:0004601 9.49 HBG1 HBB
5 oxygen binding GO:0019825 9.48 HBG1 HBB
6 oxygen carrier activity GO:0005344 9.43 HBG1 HBB
7 proximal promoter sequence-specific DNA binding GO:0000987 9.43 NFE2 KLF1 GATA1
8 DNA-binding transcription factor activity GO:0003700 9.43 SPI1 NFE2 KLF1 HSF2 GATA1 FLI1
9 organic acid binding GO:0043177 9.4 HBG1 HBB
10 haptoglobin binding GO:0031720 9.32 HBG1 HBB
11 hemoglobin alpha binding GO:0031721 9.16 HBG1 HBB
12 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.1 SPI1 NFE2 KLF1 HSF2 GATA1 FLI1

Sources for Erythroleukemia, Familial

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
54 Novoseek
57 OMIM via Orphanet
61 PubMed
70 Tocris
72 UMLS via Orphanet
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