FERLK
MCID: ERY051
MIFTS: 56

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

Characteristics:

Orphanet epidemiological data:

58
acute erythroid leukemia
Age of onset: Adult;

OMIM:

56
Miscellaneous:
incomplete penetrance
late adult onset
one family of north american origin has been reported (last curated october 2018)

Inheritance:
autosomal dominant


HPO:

31
erythroleukemia, familial:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:

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:

56
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:

45
# 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
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
Vincristine Approved, Investigational Phase 3 57-22-7, 2068-78-2 5978
4
leucovorin Approved Phase 3 58-05-9 6006 143
5
Methotrexate Approved Phase 3 59-05-2, 1959-05-2 126941
6
Mitoxantrone Approved, Investigational Phase 3 65271-80-9 4212
7
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
8
Mercaptopurine Approved Phase 3 50-44-2 667490
9
Cladribine Approved, Investigational Phase 3 4291-63-8 20279
10
Etoposide Approved Phase 3 33419-42-0 36462
11
Idarubicin Approved Phase 3 58957-92-9 42890
12
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
13
Melphalan Approved Phase 3 148-82-3 460612 4053
14
Hydrocortisone Approved, Vet_approved Phase 3 50-23-7 5754
15
Hydrocortisone acetate Approved, Vet_approved Phase 3 50-03-3
16
Thioguanine Approved Phase 3 154-42-7 2723601
17
Arsenic trioxide Approved, Investigational Phase 2, Phase 3 1327-53-3 518740
18
alemtuzumab Approved, Investigational Phase 2, Phase 3 216503-57-0
19
Sargramostim Approved, Investigational Phase 3 83869-56-1, 123774-72-1
20
Clofarabine Approved, Investigational Phase 2, Phase 3 123318-82-1 119182
21
Carmustine Approved, Investigational Phase 3 154-93-8 2578
22
Amsacrine Approved, Investigational Phase 3 51264-14-3 2179
23
Hydroxyurea Approved Phase 3 127-07-1 3657
24
Daunorubicin Approved Phase 3 20830-81-3 30323
25
Cytarabine Approved, Experimental, Investigational Phase 3 147-94-4, 65-46-3 6253
26
Azacitidine Approved, Investigational Phase 3 320-67-2 9444
27
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3
28
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
29
Decitabine Approved, Investigational Phase 3 2353-33-5 451668
30
midostaurin Approved, Investigational Phase 3 120685-11-2 104937 9829523
31
Histamine Approved, Investigational Phase 3 51-45-6 774
32
Cyproheptadine Approved Phase 3 129-03-3 2913
33
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
34
Tretinoin Approved, Investigational, Nutraceutical Phase 3 302-79-4 444795 5538
35
Aspartic acid Approved, Nutraceutical Phase 3 56-84-8 5960
36 Lintuzumab Investigational Phase 3 166089-32-3
37
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
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 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
50 PHASE II STUDY EVALUATING AUTOLOGOUS PERIPHERAL BLOOD PROGENITOR CELL TRANSPLANTATION FOR ACUTE LEUKEMIAS Completed NCT00002567 Phase 2 etoposide

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:

40
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
1
A germline ERBB3 variant is a candidate for predisposition to erythroid MDS/erythroleukemia. 56 6 61
27416908 2016
2
Missense mutation of the erythropoietin receptor is a rare event in human erythroid malignancies. 61 54 56
8608241 1996
3
Epitaph for erythroleukemia. 56 61
15339700 2004
4
Erythroleukemia: a need for a new definition. 56 61
12145675 2002
5
Autocrine stimulation by erythropoietin and autonomous growth of human erythroid leukemic cells in vitro. 56 61
1653276 1991
6
Familial erythroleukemia: four cases of the Diguglielmo syndrome in close relatives. 56 61
6948132 1982
7
Di Guglielmo and his syndromes. 56
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. 56
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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:

73
# 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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