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 72
Erythroleukemia, Familial, Susceptibility to 57 6
Leukemia, Acute Myelogenous, M6 57 72
Di Guglielmo Disease, Familial 57 72
Acute Erythroblastic Leukemia 17 70
Ferlk 57 72
Leukemia, Erythroblastic, Acute 44
Acute Myeloid Leukemia M6 58
Acute Erythroid Leukemia 58
Erythroleukemia 58
Aml M6 58


Orphanet epidemiological data:

acute erythroid leukemia
Age of onset: Adult;


57 (Updated 05-Apr-2021)
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® 57 133180
MeSH 44 D004915
ICD10 via Orphanet 33 C94.0
UMLS via Orphanet 71 C0023440
Orphanet 58 ORPHA318
UMLS 70 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) (Updated 05-Apr-2021)

MalaCards based summary : Erythroleukemia, Familial, also known as erythroleukemia, familial, susceptibility to, is related to acute erythroid leukemia and anemia, congenital dyserythropoietic, type iii. An important gene associated with Erythroleukemia, Familial is ERBB3 (Erb-B2 Receptor Tyrosine Kinase 3). The drugs Dexamethasone and Aldesleukin have been mentioned in the context of this disorder. Affiliated tissues include myeloid, bone marrow and bone, and related phenotypes are anemia and refractory anemia with ringed sideroblasts

UniProtKB/Swiss-Prot : 72 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 170)
# Related Disease Score Top Affiliating Genes
1 acute erythroid leukemia 11.8
2 anemia, congenital dyserythropoietic, type iii 11.2
3 folate malabsorption, hereditary 10.9
4 leukemia, acute myeloid 10.5
5 leukemia 10.5
6 myelodysplastic syndrome 10.4
7 polycythemia 10.4
8 myeloid leukemia 10.4
9 splenomegaly 10.4
10 pertussis 10.4
11 acute leukemia 10.3
12 macrocytic anemia 10.2
13 myelodysplastic syndrome with excess blasts 10.2
14 retinoblastoma 10.2
15 leukemia, chronic myeloid 10.1
16 deficiency anemia 10.1
17 pancytopenia 10.1
18 acute megakaryocytic leukemia 10.1
19 refractory anemia 10.1
20 myelofibrosis 10.1
21 insulin-like growth factor i 10.1
22 fetal hemoglobin quantitative trait locus 6 10.1
23 allergic disease 10.1
24 embryonal carcinoma 10.1
25 neuroblastoma 10.1
26 herpes simplex 10.1
27 chromosomal triplication 10.1
28 refractory anemia with excess blasts in transformation 10.1
29 polycythemia vera 10.0
30 helix syndrome 10.0
31 paroxysmal nocturnal hemoglobinuria 10.0
32 disseminated intravascular coagulation 10.0
33 cholera 10.0
34 hemoglobinopathy 10.0
35 hemoglobinuria 10.0
36 diabetes insipidus 10.0
37 hypoxia 10.0
38 47,xyy 10.0
39 lymphosarcoma 10.0
40 aplastic anemia 10.0
41 ewing sarcoma 10.0
42 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.0
43 sarcoma 10.0
44 neutropenia 10.0
45 thrombocytopenia 10.0
46 hemangioma 10.0
47 vaccinia 10.0
48 teratocarcinoma 10.0
49 mast cell neoplasm 10.0
50 spindle cell sarcoma 10.0

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®:

57 (Updated 05-Apr-2021)
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®:

133180 (Updated 05-Apr-2021)

Drugs & Therapeutics for Erythroleukemia, Familial

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

(show top 50) (show all 149)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
Aldesleukin Approved Phase 3 85898-30-2, 110942-02-4
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3
Hydrocortisone Approved, Vet_approved Phase 3 50-23-7 5754
Hydrocortisone acetate Approved, Vet_approved Phase 3 50-03-3
Azacitidine Approved, Investigational Phase 3 320-67-2 9444
Cytarabine Approved, Investigational Phase 3 147-94-4 6253
Daunorubicin Approved Phase 3 20830-81-3 30323
Thioguanine Approved Phase 3 154-42-7 2723601
Clofarabine Approved, Investigational Phase 3 123318-82-1 119182
Decitabine Approved, Investigational Phase 3 2353-33-5 451668
Aspartic acid Approved, Nutraceutical Phase 3 56-84-8 5960
tipifarnib Investigational Phase 3 192185-72-1 159324
14 Gastrointestinal Agents Phase 3
15 Analgesics, Non-Narcotic Phase 3
16 Anti-Retroviral Agents Phase 3
17 Interleukin-2 Phase 3
18 glucocorticoids Phase 3
19 Antiemetics Phase 3
20 Hormone Antagonists Phase 3
21 Hydrocortisone-17-butyrate Phase 3
22 Antineoplastic Agents, Hormonal Phase 3
23 Hydrocortisone hemisuccinate Phase 3
24 Anti-HIV Agents Phase 3
25 BB 1101 Phase 3
26 Hydrocortisone 17-butyrate 21-propionate Phase 3
27 Anti-Inflammatory Agents Phase 3
28 Antimetabolites Phase 3
29 Immunosuppressive Agents Phase 3
30 Immunologic Factors Phase 3
31 Antibiotics, Antitubercular Phase 3
32 Antiviral Agents Phase 3
33 Anti-Bacterial Agents Phase 3
34 Anti-Infective Agents Phase 3
asparaginase Phase 3
36 N-Methylaspartate Phase 3
tannic acid Approved Phase 2 1401-55-4
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
Prednisolone acetate Approved, Vet_approved Phase 2 52-21-1
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
Sirolimus Approved, Investigational Phase 2 53123-88-9 6436030 5284616
Topotecan Approved, Investigational Phase 2 123948-87-8, 119413-54-6 60700
Carboplatin Approved Phase 2 41575-94-4 10339178 498142 38904
47 Choline magnesium trisalicylate Approved Phase 2 64425-90-7
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
Vidarabine Approved, Investigational Phase 2 24356-66-9 21704 32326
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907

Interventional clinical trials:

(show top 50) (show all 85)
# Name Status NCT ID Phase Drugs
1 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
2 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
3 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
4 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
5 The Treatment of Down Syndrome Children With Acute Myeloid Leukemia (AML) and Myelodysplastic Syndromes (MDS) Under the Age of 4 Years Active, not recruiting NCT00369317 Phase 3 asparaginase;daunorubicin hydrochloride;cytarabine;thioguanine;etoposide
6 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
7 A Phase 2 Study of Suberoylanilide Hydroxamic Acid (SAHA) in Acute Myeloid Leukemia (AML) Completed NCT00305773 Phase 2 vorinostat;vorinostat
8 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
10 Phase II Studies of Two Different Schedules and Two Different Doses of the Farnesyl Transferase Inhibitor R115777 (Tipifarnib, Zarnestra®, NSC-702818) for Previously Untreated Acute Myeloid Leukemia (AML) in Patients of Age 70 or Older Completed NCT00093418 Phase 2 tipifarnib
11 Phase 2 Study of Early Discharge and Outpatient Management of Adult Patients Following Intensive Chemotherapy for MDS and Non-APL AML Completed NCT01235572 Phase 2
12 A Phase II Study of and Oral Histone Deacytylase Inhibitor, MS-275 (NSC 706995), in Combination With Sargramostim (GM-CSF, Berlex, Inc.) Treating Relapsed and Refractory Myeloid Malignancies Completed NCT00462605 Phase 2 entinostat;sargramostim
13 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
14 Randomized Phase II Trial of Timed Sequential Cytosine Arabinoside (Ara-C) With and Without the Checkpoint Kinase 1 (CHK1) Inhibitor MK-8776 in Adults With Relapsed AML Completed NCT01870596 Phase 2 Cytarabine;CHK1 Inhibitor SCH 900776
15 Nonmyeloablative Allogeneic Peripheral Blood Stem Cell Transplantation From HLA Matched Related Donors for Treatment of Older Patients With De Novo or Secondary Acute Myeloid Leukemia in First Complete Remission Completed NCT00045435 Phase 2 fludarabine phosphate;cyclosporine;mycophenolate mofetil
16 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
17 High-dose Busulfan, High-dose Cyclophosphamide, and Allogeneic Bone Marrow Transplantation for Leukemia, Myelodysplastic Syndromes, Multiple Myeloma and Lymphoma Completed NCT01177371 Phase 2 busulfan;cyclophosphamide;methylprednisolone;methotrexate;cyclosporine
18 Umbilical Cord Blood (UCB) Allogeneic Stem Cell Transplant for Hematologic Malignancies Completed NCT01093586 Phase 2 busulfan;cyclophosphamide;anti-thymocyte globulin;methylprednisolone;cyclosporine;mycophenolate mofetil
19 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
20 A Phase II Study of Farnesyl Transferase Inhibitor R115777 (Zarnestra) (R115777 ( Zarnestra), Tipifarnib, R115777, NSC #702818) in Elderly Patients With Previously Untreated Poor-Risk Acute Myeloid Leukemia Completed NCT00027872 Phase 2 tipifarnib
21 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
22 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
23 Randomized Phase II Trial of Timed Sequential Therapy (TST) With Alvocidib (Flavopiridol), Ara-C and Mitoxantrone (FLAM) vs. "7+3" for Adults Age 70 and Under With Newly Diagnosed Acute Myelogenous Leukemia (AML) Completed NCT01349972 Phase 2 alvocidib;daunorubicin hydrochloride;mitoxantrone hydrochloride;cytarabine
24 A Phase II Randomized Trial of Carboplatin and Topotecan; Flavopiridol, Mitoxantrone and Cytosine Arabinoside; and Sirolimus, Mitoxantrone, Etoposide and Cytosine Arabinoside for the Treatment of Adults With Primary Refractory or Initial Relapse of Acute Myelogenous Leukemia (AML) Completed NCT00634244 Phase 2 alvocidib;mitoxantrone hydrochloride;carboplatin;cytarabine;sirolimus;etoposide;topotecan hydrochloride
25 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
26 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
27 A Phase II Pilot Study of Bortezomib (PS-341, Velcade) Combined With Reinduction Chemotherapy in Children and Young Adults With Recurrent, Refractory or Secondary Acute Myeloid Leukemia Completed NCT00666588 Phase 2 idarubicin;cytarabine;bortezomib;etoposide
28 A Phase II Study to Evaluate the Efficacy of Posttransplant Cyclophosphamide for Prevention of Chronic Graft-versus-Host Disease After Allogeneic Peripheral Blood Stem Cell Transplantation Completed NCT01427881 Phase 2 cyclophosphamide;cyclosporine;fludarabine phosphate;busulfan
29 Randomized Phase II Study Comparing Two Administration Schedules of Flavopiridol (Alvocidib, NSC 649890, IND 46, 211) Given in Timed Sequential Combination With Cytosine Arabinoside (Ara-C) and Mitoxantrone Hydrochloride for Adults With Newly Diagnosed, Previously Untreated, Poor Risk Acute Myelogenous Leukemias (AML) Completed NCT00795002 Phase 2 alvocidib;mitoxantrone hydrochloride;cytarabine
30 Dose Escalation and Phase II Study of Bortezomib (IND #58443) Added to Standard Daunorubicin and Cytarabine Therapy for Patients With Previously Untreated Acute Myeloid Leukemia Age 60-75 Years Completed NCT00742625 Phase 1, Phase 2 daunorubicin hydrochloride;cytarabine;bortezomib
31 Infusion of Off-the-Shelf Ex Vivo Expanded Cryopreserved Progenitor Cells to Facilitate the Engraftment of a Single CCR5Δ32 Homozygous or Heterozygous Cord Blood Unit in Patients With HIV and Hematological Malignancies Recruiting NCT04083170 Phase 2 Fludarabine;Cyclophosphamide;Thiotepa
32 Nonmyeloablative Hematopoietic Cell Transplantation (HCT) for Patients With Hematologic Malignancies Using Related, HLA-Haploidentical Donors: A Phase II Trial of Peripheral Blood Stem Cells (PBSC) as the Donor Source Recruiting NCT01028716 Phase 2 Cyclophosphamide;Fludarabine Phosphate;Mycophenolate Mofetil;Tacrolimus;Fludarabine
33 A Phase 1/2 Study of Vorinostat [Suberoylanilide Hydroxamic Acid (SAHA)] in Combination With Azacitidine in Patients With the Myelodysplastic Syndrome (MDS) Active, not recruiting NCT00392353 Phase 1, Phase 2 Azacitidine;Vorinostat
34 Epigenetic Priming With 5-Azacytidine Prior to in Vivo T-cell Depleted Allogeneic Stem Cell Transplantation for Patients With High Risk Myeloid Malignancies in Morphologic Remission Active, not recruiting NCT02497404 Phase 2 5-Azacytidine;Fludarabine;Melphalan;Alemtuzumab
35 NK Cells With HLA Compatible Hematopoietic Transplantation for High Risk Myeloid Malignancies Active, not recruiting NCT01823198 Phase 1, Phase 2 Busulfan;Fludarabine Phosphate
36 Phase II Study of the Addition of Azacitidine (NSC#102816) to Reduced-Intensity Conditioning Allogeneic Transplantation for Myelodysplasia (MDS) and Older Patients With AML Active, not recruiting NCT01168219 Phase 2 Azacitidine;Busulfan;Fludarabine Phosphate;Methotrexate;Tacrolimus
37 A Single Arm, Phase II Study of Eltrombopag to Enhance Platelet Count Recovery in Elderly Patients With Acute Myeloid Leukemia Undergoing Remission Induction Therapy Active, not recruiting NCT02071901 Phase 2 eltrombopag olamine
38 A Phase II Trial of Azacitidine (NSC-102816) Plus Gemtuzumab Ozogamicin (NSC-720568) as Induction and Post-Remission Therapy in Patients of Age 60 and Older With Previously Untreated Non-M3 Acute Myeloid Leukemia Active, not recruiting NCT00658814 Phase 2 Azacitidine;Gemtuzumab Ozogamicin
39 Efficacy and Safety of HVA Regimens as Salvage Treatment in Relapsed/Refractory (rr) Acute Myeloid Leukemia (AML) Enrolling by invitation NCT04424147 Phase 2
40 Randomized Phase II Trial of Idarubicin + Ara-C +/- Bevacizumab in Patients Age < 60 With Untreated Acute Myeloid Leukemia Terminated NCT00096148 Phase 2 idarubicin;cytarabine
41 A Phase II Study of Subcutaneous Bortezomib as Maintenance Therapy for Patients With High-risk Acute Myeloid Leukemia in Remission Terminated NCT01465386 Phase 2 bortezomib
42 A Phase 2 Study of EMD 121974 as Maintenance Therapy for Patinets With Acute Myeloid Leukemia in Complete Remission Terminated NCT00089388 Phase 2 cilengitide
43 Cyclosporine Modulation of Drug Resistance in Combination With Pravastatin, Mitoxantrone, and Etoposide for Adult Patients With Relapsed/Refractory Acute Myeloid Leukemia (AML): A Phase 1/2 Study Terminated NCT01342887 Phase 1, Phase 2 cyclosporine;pravastatin sodium;mitoxantrone hydrochloride;etoposide
44 Phase II Trial Examining Epigenetic Priming With Decitabine Followed by Idarubicin and Cytarabine for Patients With Relapsed or Refractory AML. Terminated NCT01607645 Phase 2 decitabine;idarubicin;cytarabine
45 OAG and Decitabine for Newly Diagnosed Acute Myeloid Leukemia Patients Greater Than or Equal to 65 Years of Age Terminated NCT02029417 Phase 2 cytarabine;omacetaxine mepesuccinate;decitabine
46 Phase II Trial of Vorinostat (Suberoylanilide Hydroxamic Acid or SAHA; Zolinza™) in Combination With Gemtuzumab Ozogamicin (Mylotarg™) as Induction and Post-Remission Therapy in Older Patients With Previously Untreated Non-M3 Acute Myeloid Leukemia Terminated NCT00673153 Phase 2 gemtuzumab ozogamicin;vorinostat
47 Vitamin D3 Supplementation in Acute Myeloid Leukemia: Pharmacokinetic Study Terminated NCT01521936 Phase 2
48 A Phase 2 Study of Single-Agent MLN9708 for the Treatment of Relapsed or Refractory Acute Myeloid Leukemia With Mutated Nucleophosmin-1 Terminated NCT02030405 Phase 2 Ixazomib
49 Phase II Study of Haploidentical Allogeneic Peripheral Blood Stem Cell Transplantation in Patients With High-Risk Acute Myeloid Leukemia in First Remission Withdrawn NCT00101140 Phase 2 anti-thymocyte globulin;fludarabine phosphate;thiotepa
50 A Phase II Study of Arsenic Trioxide in Patients With Relapsed and/or Refractory Acute Myeloid Leukemia (AML) and Mutated Nucleophosmin 1 (NPM1) Gene Withdrawn NCT01835288 Phase 2 arsenic trioxide

Search NIH Clinical Center for Erythroleukemia, Familial

Cochrane evidence based reviews: leukemia, erythroblastic, acute

Genetic Tests for Erythroleukemia, Familial

Anatomical Context for Erythroleukemia, Familial

MalaCards organs/tissues related to Erythroleukemia, Familial:

Myeloid, Bone Marrow, Bone, Nk Cells

Publications for Erythroleukemia, Familial

Articles related to Erythroleukemia, Familial:

(show all 24)
# Title Authors PMID Year
A germline ERBB3 variant is a candidate for predisposition to erythroid MDS/erythroleukemia. 57 6
27416908 2016
Epitaph for erythroleukemia. 57
15339700 2004
Di Guglielmo and his syndromes. 57
12648062 2003
Erythroleukemia: a need for a new definition. 57
12145675 2002
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. 57
10577857 1999
Missense mutation of the erythropoietin receptor is a rare event in human erythroid malignancies. 57
8608241 1996
Autocrine stimulation by erythropoietin and autonomous growth of human erythroid leukemic cells in vitro. 57
1653276 1991
Clinical and cytogenetic features of familial erythroleukaemia. 57
3471269 1987
Proposed revised criteria for the classification of acute myeloid leukemia. A report of the French-American-British Cooperative Group. 57
3862359 1985
Familial DiGuglielmo syndrome. 57
6589033 1984
Familial erythroleukemia: four cases of the Diguglielmo syndrome in close relatives. 57
6948132 1982
Familial erythroleukaemia: a cytogenetic and haematological study. 57
274807 1978
GATA1 Activity Governed by Configurations of cis-Acting Elements. 61
28119852 2016
First case of bacteremia due to chromosome-encoded CfxA3-beta-lactamase-producing Capnocytophaga sputigena in a pediatric patient with acute erythroblastic leukemia. 61
18499560 2008
Trisomy 10 and acute myeloid leukemia. 61
11996802 2002
Derivative (1;7)(q10;p10) in a patient with de novo acute erythroblastic leukemia (AML-M6). 61
10565302 1999
[Acute erythroblastic leukemia presenting as FAB M6 with surface marker positive for megakaryocytic and erythroid: report of a case]. 61
8139110 1994
Clinical, morphologic, and cytogenetic characteristics of 26 patients with acute erythroblastic leukemia. 61
1450412 1992
Isochromosome 11q in acute erythroblastic leukemia. 61
1635390 1992
Acute erythroblastic leukemia. Cytological, cytogenetic and phenotypic studies in one case. 61
2508392 1989
A case of transformation of an untreated acute lymphocytic leukemia into acute erythroblastic leukemia (Di Guglielmo's disease) 61
3935545 1985
Acute erythroblastic leukemia presenting as acute undifferentiated leukemia: a report of two cases with ultrastructural features. 61
3858611 1985
Acute erythroblastic leukemia (di guglielmo's disease) as a terminating event in a very-long survivor (27 years) with Hodgkin's disease. 61
6814999 1982
Acute erythroblastic leukemia terminating a very long-lasting (27 years) Hodgkin's disease. 61
6810628 1982

Variations for Erythroleukemia, Familial

ClinVar genetic disease variations for Erythroleukemia, Familial:

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

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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
69 Tocris
71 UMLS via Orphanet
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