FERLK
MCID: ERY051
MIFTS: 58

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 57 74
Erythroleukemia 59 55 17
Leukemia, Acute Myelogenous, M6 57 74
Acute Myeloid Leukemia, M6 Type 29 6
Di Guglielmo Disease, Familial 57 74
Acute Erythroblastic Leukemia 17 72
Ferlk 57 74
Erythroleukemia, Familial, Susceptibility to 57
Leukemia, Erythroblastic, Acute 44
Acute Myeloid Leukemia M6 59
Acute Erythroid Leukemia 59
Aml M6 59

Characteristics:

Orphanet epidemiological data:

59
acute erythroid leukemia
Age of onset: Adult;

OMIM:

57
Miscellaneous:
incomplete penetrance
late adult onset
one family of north american origin has been reported (last curated october 2018)

Inheritance:
autosomal dominant


HPO:

32
erythroleukemia, familial:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:



External Ids:

OMIM 57 133180
MeSH 44 D004915
ICD10 via Orphanet 34 C94.0
UMLS via Orphanet 73 C0023440
Orphanet 59 ORPHA318
UMLS 72 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 erythroleukemia, is related to fetal hemoglobin quantitative trait locus 1 and hereditary spherocytosis. An important gene associated with Erythroleukemia, Familial is ERBB3 (Erb-B2 Receptor Tyrosine Kinase 3), and among its related pathways/superpathways are NF-kappaB Signaling and Factors involved in megakaryocyte development and platelet production. 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 refractory anemia with ringed sideroblasts and splenomegaly

UniProtKB/Swiss-Prot : 74 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 203)
# Related Disease Score Top Affiliating Genes
1 fetal hemoglobin quantitative trait locus 1 30.3 HBG1 HBB
2 hereditary spherocytosis 29.5 KLF1 HBG1 HBB GATA1
3 thalassemia 29.3 HBG1 HBB GATA1 EPO
4 hemoglobinopathy 29.3 KLF1 HBG1 HBB EPO
5 sickle cell anemia 29.2 HBG1 HBB EPO
6 essential thrombocythemia 29.1 GATA1 EPOR EPO
7 hemoglobin h disease 29.0 HBB EPO
8 deficiency anemia 28.9 HBB GATA1 EPOR EPO
9 alpha-thalassemia 28.8 KLF1 HBG1 HBB EPO
10 beta-thalassemia 28.4 KLF1 HBG1 HBB GATA1 EPO
11 acute erythroid leukemia 12.9
12 anemia, congenital dyserythropoietic, type iii 11.4
13 folate malabsorption, hereditary 11.3
14 polycythemia 10.5
15 splenomegaly 10.5
16 leukemia 10.5
17 pertussis 10.4
18 leukemia, acute myeloid 10.4
19 myelodysplastic syndrome 10.4
20 neutrophil-specific granule deficiency 10.3 SPI1 GATA1
21 myeloid leukemia 10.3
22 blood protein disease 10.3 HBG1 HBB
23 retinoblastoma 10.3
24 familial retinoblastoma 10.3
25 spherocytosis, type 4 10.2 KLF1 GATA1
26 leukemia, chronic myeloid 10.2
27 helix syndrome 10.2
28 thrombocytopenia 10.2
29 refractory anemia with excess blasts in transformation 10.2
30 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome 10.2 KLF1 HBG1 HBB
31 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome 10.2 KLF1 HBG1 HBB
32 myelofibrosis 10.2
33 neuroblastoma 1 10.2
34 insulin-like growth factor i 10.2
35 fetal hemoglobin quantitative trait locus 6 10.2
36 embryonal carcinoma 10.2
37 herpes simplex 10.2
38 chromosomal triplication 10.2
39 acute leukemia 10.1
40 myelodysplastic syndrome with excess blasts 10.1
41 polycythemia vera 10.1
42 paroxysmal nocturnal hemoglobinuria 10.1
43 disseminated intravascular coagulation 10.1
44 allergic hypersensitivity disease 10.1
45 cholera 10.1
46 hemoglobinuria 10.1
47 diabetes insipidus 10.1
48 48,xyyy 10.1
49 hypoxia 10.1
50 spherocytosis, type 3 10.1 KLF1 HBB GATA1

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:

59 32 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 refractory anemia with ringed sideroblasts 59 32 Frequent (79-30%) HP:0004828
2 splenomegaly 32 HP:0001744
3 hepatomegaly 32 HP:0002240
4 anemia 59 Frequent (79-30%)
5 pancytopenia 59 Frequent (79-30%)
6 bone marrow hypocellularity 59 Occasional (29-5%)
7 acute myeloid leukemia 32 HP:0004808
8 leukopenia 59 Frequent (79-30%)
9 bone marrow hypercellularity 59 Frequent (79-30%)
10 erythroid hypoplasia 59 Frequent (79-30%)
11 abnormal proerythroblast morphology 59 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

57
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

MGI Mouse Phenotypes related to Erythroleukemia, Familial:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.01 EPO EPOR ERBB3 FLI1 GATA1 HSF2
2 cardiovascular system MP:0005385 9.98 EPO EPOR ERBB3 FLI1 GATA1 HSF2
3 embryo MP:0005380 9.91 EPO EPOR ERBB3 FLI1 GATA1 KLF1
4 hematopoietic system MP:0005397 9.87 EPO EPOR FLI1 GATA1 KLF1 SPI1
5 immune system MP:0005387 9.86 EPO EPOR ERBB3 FLI1 GATA1 KLF1
6 liver/biliary system MP:0005370 9.63 EPO EPOR FLI1 GATA1 KLF1 SPI1
7 mortality/aging MP:0010768 9.61 EPO EPOR ERBB3 FLI1 GATA1 HSF2
8 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 216)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mesna Approved, Investigational Phase 3 3375-50-6 598
2
Fludarabine Approved Phase 2, Phase 3 21679-14-1, 75607-67-9 30751
3
Mercaptopurine Approved Phase 3 50-44-2 667490
4
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
5
Methotrexate Approved Phase 3 1959-05-2, 59-05-2 126941
6
Mitoxantrone Approved, Investigational Phase 3 65271-80-9 4212
7
Cladribine Approved, Investigational Phase 3 4291-63-8 20279
8
Vincristine Approved, Investigational Phase 3 57-22-7, 2068-78-2 5978
9
Etoposide Approved Phase 3 33419-42-0 36462
10
leucovorin Approved Phase 3 58-05-9 143 6006
11
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
12
Melphalan Approved Phase 3 148-82-3 460612 4053
13
Thioguanine Approved Phase 3 154-42-7 2723601
14
Hydrocortisone Approved, Vet_approved Phase 3 50-23-7 5754
15
Hydrocortisone acetate Approved, Vet_approved Phase 3 50-03-3
16
Arsenic trioxide Approved, Investigational Phase 2, Phase 3 1327-53-3 518740
17
alemtuzumab Approved, Investigational Phase 2, Phase 3 216503-57-0
18
Sargramostim Approved, Investigational Phase 3 83869-56-1, 123774-72-1
19
Clofarabine Approved, Investigational Phase 2, Phase 3 123318-82-1 119182
20
Carmustine Approved, Investigational Phase 3 154-93-8 2578
21
Amsacrine Approved, Investigational Phase 3 51264-14-3 2179
22
Hydroxyurea Approved Phase 3 127-07-1 3657
23
Daunorubicin Approved Phase 3 20830-81-3 30323
24
Cytarabine Approved, Experimental, Investigational Phase 3 147-94-4, 65-46-3 6253
25
Azacitidine Approved, Investigational Phase 3 320-67-2 9444
26
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
27
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3
28
Decitabine Approved, Investigational Phase 3 2353-33-5 451668
29
midostaurin Approved, Investigational Phase 3 120685-11-2 104937 9829523
30
Histamine Approved, Investigational Phase 3 51-45-6 774
31
Cyproheptadine Approved Phase 3 129-03-3 2913
32
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
33
Tretinoin Approved, Investigational, Nutraceutical Phase 3 302-79-4 5538 444795
34
Aspartic acid Approved, Nutraceutical Phase 3 56-84-8 5960
35 Lintuzumab Investigational Phase 3 166089-32-3
36
tipifarnib Investigational Phase 3 192185-72-1 159324
37 Staurosporine Experimental Phase 3 62996-74-1
38 Antibodies Phase 3
39 Antibodies, Monoclonal Phase 3
40 Immunoglobulins Phase 3
41 Alkylating Agents Phase 2, Phase 3
42 Antineoplastic Agents, Alkylating Phase 2, Phase 3
43 Analgesics Phase 3
44 Folic Acid Antagonists Phase 3
45 Gemtuzumab Phase 3
46 Antineoplastic Agents, Phytogenic Phase 3
47 Folate Phase 3
48 Vitamin B Complex Phase 3
49
asparaginase Phase 3
50 Vitamin B9 Phase 3

Interventional clinical trials:

(show top 50) (show all 189)
# Name Status NCT ID Phase Drugs
1 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
2 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
3 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
4 ACUTE MYELOID LEUKAEMIA TRIAL 12 Unknown status NCT00002658 Phase 3 amsacrine;cyclophosphamide;cytarabine;daunorubicin hydrochloride;etoposide;idarubicin;mitoxantrone hydrochloride;thioguanine;tretinoin
5 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
6 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
7 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
8 Protocol for Patients With High Risk (Resistant, Refractory, Relapsed or Adverse Cytogenetic) AML Completed NCT00005863 Phase 3 cytarabine;daunorubicin hydrochloride;etoposide;fludarabine phosphate;tretinoin
9 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
10 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
11 A Phase III Study of Flt3 Ligand (Flt3L) Therapy in Acute Myeloid Leukemia (AML) Patients in Remission Completed NCT00006223 Phase 3
12 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
13 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
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
15 RANDOMIZED PHASE III STUDY TO EVALUATE THE VALUE OF rHuG-CSF IN INDUCTION AND OF AN ORAL SCHEDULE AS CONSOLIDATION TREATMENT IN ELDERLY PATIENTS WITH ACUTE MYELOGENOUS LEUMEKIA (AML-13 PROTOCOL) Completed NCT00002719 Phase 3 amsacrine;carmustine;cytarabine;etoposide;idarubicin;mitoxantrone hydrochloride
16 The Treatment of Down Syndrome Children With Acute Myeloid Leukemia (AML) and Myelodysplastic Syndromes (MDS) Under the Age of 4 Years Completed NCT00369317 Phase 3 asparaginase;daunorubicin hydrochloride;cytarabine;thioguanine;etoposide
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 A Phase I/II Study of Lenalidomide Maintenance After Autologous Stem Cell Transplant for Elderly Patients With Acute Myeloid Leukemia (AML) Unknown status NCT02038153 Phase 1, Phase 2 Lenalidomide
33 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
34 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
35 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
36 A Phase 2 Study of Suberoylanilide Hydroxamic Acid (SAHA) in Acute Myeloid Leukemia (AML) Completed NCT00305773 Phase 2 vorinostat;vorinostat
37 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
38 Autologous Bone Marrow Transplantation for Patients With Acute Myelogenous Leukemia or Myelodysplastic Syndrome - A Phase II Pilot Study Completed NCT00004899 Phase 2 busulfan;etoposide
39 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
40 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
41 A Pilot Study of Unrelated Umbilical Cord Blood Transplantation in Patients With High Risk Hematologic Malignancies Completed NCT00003335 Phase 2 busulfan;cyclosporine;melphalan;methylprednisolone
42 ALLOGENEIC AND SYNGENEIC MARROW TRANSPLANTATION IN PATIENTS WITH ACUTE NON-LYMPHOCYTIC LEUKEMIA Completed NCT00002547 Phase 2 busulfan;cyclophosphamide;cyclosporine;cytarabine;methotrexate
43 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
44 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
45 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
46 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
47 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
48 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
49 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
50 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:

41
Myeloid, Bone, Bone Marrow, Spleen, T Cells, Lung, Nk Cells

Publications for Erythroleukemia, Familial

Articles related to Erythroleukemia, Familial:

(show top 50) (show all 4609)
# Title Authors PMID Year
1
A germline ERBB3 variant is a candidate for predisposition to erythroid MDS/erythroleukemia. 38 8 71
27416908 2016
2
Missense mutation of the erythropoietin receptor is a rare event in human erythroid malignancies. 9 38 8
8608241 1996
3
Epitaph for erythroleukemia. 38 8
15339700 2004
4
Erythroleukemia: a need for a new definition. 38 8
12145675 2002
5
Autocrine stimulation by erythropoietin and autonomous growth of human erythroid leukemic cells in vitro. 38 8
1653276 1991
6
Familial erythroleukemia: four cases of the Diguglielmo syndrome in close relatives. 38 8
6948132 1982
7
Di Guglielmo and his syndromes. 8
12648062 2003
8
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. 8
10577857 1999
9
Clinical and cytogenetic features of familial erythroleukaemia. 8
3471269 1987
10
Proposed revised criteria for the classification of acute myeloid leukemia. A report of the French-American-British Cooperative Group. 8
3862359 1985
11
Familial DiGuglielmo syndrome. 8
6589033 1984
12
Familial erythroleukaemia: a cytogenetic and haematological study. 8
274807 1978
13
USF and NF-E2 cooperate to regulate the recruitment and activity of RNA polymerase II in the beta-globin gene locus. 9 38
20236933 2010
14
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. 9 38
20016000 2010
15
Posttranslational stability of the heme biosynthetic enzyme ferrochelatase is dependent on iron availability and intact iron-sulfur cluster assembly machinery. 9 38
19965627 2010
16
PU.1 directly regulates cdk6 gene expression, linking the cell proliferation and differentiation programs in erythroid cells. 9 38
19955566 2010
17
Delivery of antisense oligodeoxyribonucleotide lipopolyplex nanoparticles assembled by microfluidic hydrodynamic focusing. 9 38
19716852 2010
18
Immobilization, stabilization, and activation of human stem cell factor (SCF) on fragmin/protamine microparticle (F/P MP)-coated plates. 9 38
19637375 2010
19
Regulated expression of the alpha isoform of the human thromboxane A2 receptor during megakaryocyte differentiation: a coordinated role for WT1, Egr1, and Sp1. 9 38
19747485 2009
20
Stat3 promotes the development of erythroleukemia by inducing Pu.1 expression and inhibiting erythroid differentiation. 9 38
19581930 2009
21
Induction of hyperproliferative fetal megakaryopoiesis by an N-terminally truncated GATA1 mutant. 9 38
19682090 2009
22
Enrichment of Sca1+ hematopoietic progenitors in polycythemic mice inhibits leukemogenesis. 9 38
19584401 2009
23
Continuous Fli-1 expression plays an essential role in the proliferation and survival of F-MuLV-induced erythroleukemia and human erythroleukemia. 9 38
19282832 2009
24
Regulation of hematopoietic cell development and function by Stat3. 9 38
19482615 2009
25
Nuclear translocation of active AKT is required for erythroid differentiation in erythropoietin treated K562 erythroleukemia cells. 9 38
18694847 2009
26
The inhibitory effect of the proinflammatory cytokine TNFalpha on erythroid differentiation involves erythroid transcription factor modulation. 9 38
19212691 2009
27
Human stem cell factor (SCF) is a heparin-binding cytokine. 9 38
19074504 2009
28
Transcriptional regulation of the human prostacyclin receptor gene is dependent on Sp1, PU.1 and Oct-1 in megakaryocytes and endothelial cells. 9 38
19118563 2009
29
Wild-type JAK2 secondary acute erythroleukemia developing after JAK2-V617F-mutated primary myelofibrosis. 9 38
19713696 2009
30
Regulation of transferrin receptor 2 in human cancer cell lines. 9 38
19019709 2009
31
Prostacyclin receptor-induced STAT3 phosphorylation in human erythroleukemia cells is mediated via Galpha(s) and Galpha(16) hybrid signaling. 9 38
18755267 2008
32
Phorbol 12-myristate 13-acetate (PMA) responsive sequence in Galphaq promoter during megakaryocytic differentiation. Regulation by EGR-1 and MAP kinase pathway. 9 38
18989526 2008
33
The Wilms' tumor suppressor Wt1 activates transcription of the erythropoietin receptor in hematopoietic progenitor cells. 9 38
18424770 2008
34
EKLF restricts megakaryocytic differentiation at the benefit of erythrocytic differentiation. 9 38
18523154 2008
35
[Effects of some traditional Chinese drugs on Mdr1 gene and its expression product in K562/A02 cells]. 9 38
18718061 2008
36
The role of the proto-oncogene ETS2 in acute megakaryocytic leukemia biology and therapy. 9 38
18094719 2008
37
HLA-G turns off erythropoietin receptor signaling through JAK2 and JAK2 V617F dephosphorylation: clinical relevance in polycythemia vera. 9 38
18059484 2008
38
WP1066, a novel JAK2 inhibitor, suppresses proliferation and induces apoptosis in erythroid human cells carrying the JAK2 V617F mutation. 9 38
18245540 2008
39
PU.1: a crucial and versatile player in hematopoiesis and leukemia. 9 38
17374502 2008
40
Human telomerase is regulated by erythropoietin and transforming growth factor-beta in human erythroid progenitor cells. 9 38
17713555 2007
41
Changes in the expression of cytochrome P450 genes in hemin-induced differentiated K562 cells. 9 38
17917270 2007
42
Multidrug resistance inhibition by antisense oligonucleotide against MDR1/mRNA in P-glycoprotein expressing leukemic cells. 9 38
17852455 2007
43
Lovastatin suppresses erythropoietin receptor surface expression through dual inhibition of glycosylation and geranylgeranylation. 9 38
17586475 2007
44
Elevated NF-kappaB responses and FLIP levels in leukemic but not normal lymphocytes: reduction by salicylate allows TNF-induced apoptosis. 9 38
17646662 2007
45
Post-transcriptional regulation of P-glycoprotein expression in cancer cell lines. 9 38
17579122 2007
46
SATB1 regulates SPARC expression in K562 cell line through binding to a specific sequence in the third intron. 9 38
17343824 2007
47
Inhibition of human pancreatic ribonuclease by the human ribonuclease inhibitor protein. 9 38
17350650 2007
48
Cyclic nucleotide response element binding (CREB) protein activation is involved in K562 erythroleukemia cells differentiation. 9 38
17063485 2007
49
Heat shock factor 2 (HSF2) contributes to inducible expression of hsp genes through interplay with HSF1. 9 38
17213196 2007
50
Early growth response transcription factor EGR-1 regulates Galphaq gene in megakaryocytic cells. 9 38
16995904 2006

Variations for Erythroleukemia, Familial

ClinVar genetic disease variations for Erythroleukemia, Familial:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ERBB3 NM_001982.3(ERBB3): c.4009G> A (p.Ala1337Thr) single nucleotide variant Likely pathogenic rs755855285 12:56495819-56495819 12:56102035-56102035

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

74
# 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 nuclear chromatin GO:0000790 9.33 TAL1 SPI1 KLF1
2 hemoglobin complex GO:0005833 8.96 HBG1 HBB
3 haptoglobin-hemoglobin complex GO:0031838 8.62 HBG1 HBB

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 9.91 TAL1 SPI1 KLF1 HSF2 FLI1 EPO
2 positive regulation of transcription by RNA polymerase II GO:0045944 9.85 TAL1 SPI1 KLF1 HSF2 GATA1 FLI1
3 blood coagulation GO:0007596 9.74 HBG1 HBB GATA1
4 platelet aggregation GO:0070527 9.61 HBB GATA1
5 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.61 NPTN EPO
6 heart development GO:0007507 9.6 ERBB3 EPOR
7 positive regulation of protein tyrosine kinase activity GO:0061098 9.59 TAL1 ERBB3
8 blood circulation GO:0008015 9.58 FLI1 EPO
9 positive regulation of erythrocyte differentiation GO:0045648 9.58 TAL1 GATA1
10 transcription by RNA polymerase II GO:0006366 9.58 TAL1 HSF2 GATA1
11 hydrogen peroxide catabolic process GO:0042744 9.56 HBG1 HBB
12 myeloid cell differentiation GO:0030099 9.55 TAL1 GATA1
13 regulation of hematopoietic stem cell differentiation GO:1902036 9.54 TAL1 GATA1
14 platelet formation GO:0030220 9.52 TAL1 GATA1
15 oxygen transport GO:0015671 9.51 HBG1 HBB
16 embryonic hemopoiesis GO:0035162 9.49 TAL1 GATA1
17 megakaryocyte development GO:0035855 9.48 TAL1 FLI1
18 erythrocyte maturation GO:0043249 9.46 TAL1 EPO
19 positive regulation of transcription, DNA-templated GO:0045893 9.43 TAL1 SPI1 KLF1 GATA1 FLI1 EPO
20 megakaryocyte differentiation GO:0030219 9.32 TAL1 GATA1
21 erythropoietin-mediated signaling pathway GO:0038162 9.26 EPOR EPO
22 basophil differentiation GO:0030221 9.16 TAL1 GATA1
23 erythrocyte differentiation GO:0030218 9.02 TAL1 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 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.91 TAL1 SPI1 KLF1 HSF2 GATA1 FLI1
2 sequence-specific DNA binding GO:0043565 9.81 SPI1 HSF2 GATA1 FLI1
3 DNA-binding transcription factor activity GO:0003700 9.63 TAL1 SPI1 KLF1 HSF2 GATA1 FLI1
4 oxygen binding GO:0019825 9.48 HBG1 HBB
5 peroxidase activity GO:0004601 9.46 HBG1 HBB
6 RNA polymerase II transcription factor binding GO:0001085 9.43 TAL1 SPI1 GATA1
7 oxygen carrier activity GO:0005344 9.4 HBG1 HBB
8 organic acid binding GO:0043177 9.37 HBG1 HBB
9 haptoglobin binding GO:0031720 9.32 HBG1 HBB
10 RNA polymerase II distal enhancer sequence-specific DNA binding GO:0000980 9.26 TAL1 SPI1 GATA1 FLI1
11 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.1 TAL1 SPI1 KLF1 HSF2 GATA1 FLI1
12 protein binding GO:0005515 10.19 TAL1 SPI1 KLF1 HSF2 HBB GATA1

Sources for Erythroleukemia, Familial

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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