Erythroleukemia, familial, susceptibility to

Preferred Label : Erythroleukemia, familial, susceptibility to;

Symbol : FERLK;

CISMeF acronym : FERLK;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Leukemia, acute myelogenous, m6; Di guglielmo disease, familial;

Description : 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).;

Inheritance : Autosomal dominant;

Molecular basis : Susceptibility conferred by mutation in the V-ERB-B2 avian erythroblastic leukemia viral oncogene homolog 3 gene (ERBB3, 190151.0002);

Neoplasia : Possible increased risk of solid malignant tumors;

Prefixed ID : #133180;

Details

Origin ID

133180;

UMLS CUI

C5552985;

Automatic exact mappings (from CISMeF team)
- Acute erythremia and erythroleukemia [ICD-9 code]
- Acute erythroid leukemia [ICD-11 Extension code]
- Acute erythroid leukemia [ORDO Disease]
- ERYTHROLEUKEMIA [WHO-ART Preferred Term]
- Erythroleukemia [PASCAL descriptor]
- Erythroleukemia [ICD-9 code]
- Erythroleukemia [MedDRA LLT]
- erythroleukemia [SNOMED Notion]
- leukemia, erythroblastic, acute [MeSH Descriptor]
Currated CISMeF NLP mapping
- erythroleukemia, familial [MeSH concept]
- erythroleukemia, familial [MeSH Supplementary Concept]
Genes related to phenotype
- Erb-b2 receptor tyrosine kinase 3 [OMIM gene]
HPO term(s)
- Acute myeloid leukemia [HPO term]
- Anemia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Erythroid hyperplasia [HPO term]
- Hepatomegaly [HPO term]
- Incomplete penetrance [HPO term]
- Leukemia [HPO term]
- Refractory anemia with ringed sideroblasts [HPO term]
- Splenomegaly [HPO term]
- Thrombocytopenia [HPO term]
ORDO concept(s)
- Acute erythroid leukemia [ORDO Disease]
Semantic type(s)
- Finding [UMLS semantic type]
UMLS correspondences (same concept)
- erythroleukemia, familial [MeSH Supplementary Concept]
- erythroleukemia, familial [MeSH concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients