Erythroleukemia, Familial

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

Aliases & Classifications for Erythroleukemia, Familial

MalaCards integrated aliases for Erythroleukemia, Familial:

Name: Erythroleukemia, Familial 54
Acute Erythroblastic Leukemia 69
Acute Myeloid Leukemia M6 56
Acute Erythroid Leukemia 56
Erythroleukemia 56
Aml M6 56


Orphanet epidemiological data:

acute erythroid leukemia
Age of onset: Adult;


autosomal dominant


erythroleukemia, familial:
Inheritance autosomal dominant inheritance


External Ids:

OMIM 54 133180
Orphanet 56 ORPHA318
UMLS via Orphanet 70 C0023440
ICD10 via Orphanet 34 C94.0

Summaries for Erythroleukemia, Familial

OMIM : 54
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 acute erythroblastic leukemia, is related to acute erythroid leukemia and dyserythropoietic anemia, congenital, type iii, and has symptoms including leukemia and refractory anemia with ringed sideroblasts. The drugs Asparaginase and Cytarabine have been mentioned in the context of this disorder. Affiliated tissues include myeloid, bone and bone marrow.

Related Diseases for Erythroleukemia, Familial

Diseases related to Erythroleukemia, Familial via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 acute erythroid leukemia 12.5
2 dyserythropoietic anemia, congenital, type iii 11.0
3 leukemia 10.5
4 myelodysplastic syndrome 9.8
5 macrocytic anemia 9.8
6 pelger-huet anomaly 9.7
7 multiple myeloma 9.7
8 acute leukemia 9.7
9 chronic lymphocytic leukemia 9.7
10 vasculitis 9.7

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

Diseases related to Erythroleukemia, Familial

Symptoms & Phenotypes for Erythroleukemia, Familial

Symptoms via clinical synopsis from OMIM:


erythroid leukemia
red cell proliferation
ineffective hyperplastic erythropoiesis
myelodysplasia with sideroblastosis

elevated igm
elevated erythrocyte hexokinase
chromosome abnormalities
marrow hypocellularity

Clinical features from OMIM:


Human phenotypes related to Erythroleukemia, Familial:

id Description HPO Frequency HPO Source Accession
1 leukemia 32 HP:0001909
2 refractory anemia with ringed sideroblasts 32 HP:0004828

Drugs & Therapeutics for Erythroleukemia, Familial

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

(show top 50) (show all 76)
id Name Status Phase Clinical Trials Cas Number PubChem Id
Asparaginase Approved Phase 3 9015-68-3
Cytarabine Approved, Investigational Phase 3,Phase 1,Phase 2 147-94-4 6253
Daunorubicin Approved Phase 3,Phase 2 20830-81-3 30323
Etoposide Approved Phase 3,Phase 1 33419-42-0 36462
Mitoxantrone Approved, Investigational Phase 3 65271-80-9 4212
Hydrocortisone Approved, Vet_approved Phase 3 50-23-7 5754 657311
Methotrexate Approved Phase 3,Phase 2,Phase 1 1959-05-2, 59-05-2 126941
Thioguanine Approved Phase 3 154-42-7 2723601
Clofarabine Approved, Investigational Phase 3,Phase 1,Phase 2 123318-82-1 119182
Azacitidine Approved, Investigational Phase 3,Phase 2 320-67-2 9444
Decitabine Approved, Investigational Phase 3 2353-33-5 451668
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3,Phase 2,Phase 1 59-30-3 6037
leucovorin Approved, Nutraceutical Phase 3,Phase 2,Phase 1 58-05-9 143 6006
Butyric Acid Experimental Phase 3 107-92-6 264
16 Staurosporine Experimental Phase 3 62996-74-1
17 Analgesics Phase 3
18 Anti-Bacterial Agents Phase 3,Phase 2
19 Antibiotics, Antitubercular Phase 3,Phase 2
20 Anti-Infective Agents Phase 3,Phase 2,Phase 1
21 Antimetabolites Phase 3,Phase 2,Phase 1
22 Antimetabolites, Antineoplastic Phase 3,Phase 2,Phase 1
23 Antineoplastic Agents, Phytogenic Phase 3,Phase 1
24 Antiviral Agents Phase 3,Phase 1,Phase 2
25 Etoposide phosphate Phase 3,Phase 1
26 Gemtuzumab Phase 3,Phase 2
27 Immunosuppressive Agents Phase 3,Phase 2,Phase 1
28 Peripheral Nervous System Agents Phase 3
29 Topoisomerase Inhibitors Phase 3,Phase 2,Phase 1
30 Anti-Inflammatory Agents Phase 3,Phase 1
31 Antirheumatic Agents Phase 3,Phase 2,Phase 1
32 Cortisol succinate Phase 3
33 Dermatologic Agents Phase 3,Phase 2,Phase 1
34 Folic Acid Antagonists Phase 3,Phase 2,Phase 1
35 Hydrocortisone 17-butyrate 21-propionate Phase 3
36 Hydrocortisone acetate Phase 3
37 Hydrocortisone-17-butyrate Phase 3
38 Nucleic Acid Synthesis Inhibitors Phase 3,Phase 2,Phase 1
39 Vitamin B Complex Phase 3,Phase 2,Phase 1
40 Antineoplastic Agents, Hormonal Phase 3,Phase 1
41 glucocorticoids Phase 3,Phase 1
42 Hormone Antagonists Phase 3,Phase 1
43 Hormones Phase 3,Phase 1
44 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 1
45 4'-N-benzoylstaurosporine Phase 3
46 Antiemetics Phase 3
47 Autonomic Agents Phase 3
48 BB 1101 Phase 3
49 Dexamethasone acetate Phase 3 1177-87-3
50 Gastrointestinal Agents Phase 3

Interventional clinical trials:

(show all 15)

id Name Status NCT ID Phase Drugs
1 Combination Chemotherapy With or Without Gemtuzumab in Treating Young Patients With Newly Diagnosed Acute Myeloid Leukemia Completed NCT00372593 Phase 3 asparaginase;cytarabine;daunorubicin hydrochloride;etoposide;gemtuzumab ozogamicin;mitoxantrone hydrochloride
2 Cytarabine With or Without VNP40101M in Treating Patients With Relapsed Acute Myeloid Leukemia Completed NCT00112554 Phase 3 cytarabine;laromustine
3 Chemotherapy in Treating Children With Down Syndrome and Myeloproliferative Disorder, Acute Myelogenous Leukemia, or Myelodysplastic Syndrome Completed NCT00003593 Phase 3 asparaginase;cytarabine;daunorubicin hydrochloride;methotrexate;therapeutic hydrocortisone;thioguanine
4 Clofarabine or Daunorubicin Hydrochloride and Cytarabine Followed By Decitabine or Observation in Treating Older Patients With Newly Diagnosed Acute Myeloid Leukemia Recruiting NCT02085408 Phase 3 clofarabine;daunorubicin hydrochloride;cytarabine;decitabine
5 Daunorubicin, Cytarabine, and Midostaurin in Treating Patients With Newly Diagnosed Acute Myeloid Leukemia Active, not recruiting NCT00651261 Phase 3 cytarabine;daunorubicin;midostaurin;dexamethasone acetate
6 Donor Stem Cell Transplant or Bone Marrow Transplant in Treating Patients With Acute Myeloid Leukemia in Remission Completed NCT01020734 Phase 2 busulfan;cyclophosphamide;cyclosporine;fludarabine phosphate;methotrexate
7 Clofarabine and Cytarabine in Treating Young Patients With Refractory or Relapsed Acute Myeloid Leukemia or Acute Lymphoblastic Leukemia Completed NCT00372619 Phase 1, Phase 2 clofarabine;cytarabine;methotrexate
8 S0301 Cyclosporine, Daunorubicin, and Cytarabine in Treating Older Patients With Previously Untreated Acute Myeloid Leukemia Completed NCT00066794 Phase 2 cyclosporine;cytarabine;daunorubicin hydrochloride
9 Chemotherapy in Treating Children With Recurrent Acute Myeloid Leukemia Completed NCT00003178 Phase 2 cladribine;idarubicin
10 S0112 Cytarabine and Daunorubicin in Treating Older Patients With Acute Myeloid Leukemia Completed NCT00023777 Phase 2 cytarabine;daunorubicin hydrochloride
11 S9918 PSC 833, Daunorubicin, and Cytarabine in Treating Older Patients With Newly Diagnosed Acute Myeloid Leukemia Completed NCT00004217 Phase 2 cytarabine;daunorubicin hydrochloride;valspodar
12 S0117 Gemtuzumab Ozogamicin Plus Cytarabine in Treating Patients With Relapsed Acute Myeloid Leukemia Completed NCT00049179 Phase 2 cytarabine;gemtuzumab ozogamicin
13 Azacitidine and Gemtuzumab Ozogamicin in Treating Older Patients With Previously Untreated Acute Myeloid Leukemia Active, not recruiting NCT00658814 Phase 2 Azacitidine;Gemtuzumab Ozogamicin
14 Fludarabine and Busulfan Followed by Allogeneic Stem Cell Transplant in Treating Older Patients With Acute Myeloid Leukemia in First Complete Remission Active, not recruiting NCT00070135 Phase 2 busulfan;fludarabine phosphate;methotrexate;tacrolimus
15 Donor Umbilical Cord Blood Transplant in Treating Patients With Advanced Hematologic Cancer Completed NCT00304018 Phase 1 busulfan;etoposide;fludarabine phosphate;prednisone;tacrolimus

Search NIH Clinical Center for Erythroleukemia, Familial

Genetic Tests for Erythroleukemia, Familial

Anatomical Context for Erythroleukemia, Familial

MalaCards organs/tissues related to Erythroleukemia, Familial:

Myeloid, Bone, Bone Marrow

Publications for Erythroleukemia, Familial

Variations for Erythroleukemia, Familial

ClinVar genetic disease variations for Erythroleukemia, Familial:

id Gene Variation Type Significance SNP ID Assembly Location
1 ERBB3 NM_001982.3(ERBB3): c.4009G> A (p.Ala1337Thr) single nucleotide variant Likely pathogenic rs755855285 GRCh38 Chromosome 12, 56102035: 56102035

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
16 ExPASy
18 FMA
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
52 Novoseek
55 OMIM via Orphanet
59 PubMed
66 SNOMED-CT via Orphanet
68 Tocris
70 UMLS via Orphanet
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