Anemia, congenital dyserythropoietic, type iiia

Preferred Label : Anemia, congenital dyserythropoietic, type iiia;

Symbol : CDAN3A;

CISMeF acronym : CDAN3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cda, type iiia; Dyserythropoietic anemia, congenital, type iiia; Erythroreticulosis, hereditary benign; Anemia with multinucleated erythroblasts; Cda, type III; CDAN3; Anemia, congenital dyserythropoietic, type III;

Description : Congenital dyserythropoietic anemia type III is a rare disorder characterized by nonprogressive mild to moderate hemolytic anemia, macrocytosis in the peripheral blood, and giant multinucleated erythroblasts in the bone marrow (Lind et al., 1995). For a discussion of genetic heterogeneity of congenital dyserythropoietic anemia, see 224120.;

Inheritance : Autosomal dominant; also two recessive forms;

Prefixed ID : #105600;

Details

Origin ID

105600;

UMLS CUI

C5676874;

Automatic exact mappings (from CISMeF team)
- CDA Gene [NCIt concept]
- Congenital dyserythropoietic anaemia type III [ICD-11 More detail]
- Congenital dyserythropoietic anemia, type III gene [ORDO Gene]
- congenital dyserythropoietic anemia type III [DO Concept]
- congenital dyserythropoietic anemia, type III [HGNC gene]
Currated CISMeF NLP mapping
- Congenital dyserythropoietic anemia type III [ORDO Disease]
- Congenital dyserythropoietic anemia, type III (disorder) [SNOMED CT concept]
- anemia, dyserythropoietic, congenital, type III [MeSH concept]
- congenital dyserythropoietic anemia, type iii [SNOMED Notion]
- erythroreticulosis, hereditary benign [MeSH concept]
- erythroreticulosis, hereditary benign [MeSH Supplementary Concept]
DO Cross reference
- congenital dyserythropoietic anemia type III [DO Concept]
False automatic mappings
- Cladribine [NCIt concept]
Genes related to phenotype
- Kinesin family member 23 [OMIM gene]
HPO term(s)
- Anemia of inadequate production [HPO term]
- Autosomal dominant inheritance [HPO term]
- Congenital hypoplastic anemia [HPO term]
- Hemosiderinuria [HPO term]
- Jaundice [HPO term]
- Macrocytic anemia [HPO term]
ORDO concept(s)
- Congenital dyserythropoietic anemia [ORDO Disease]
- Congenital dyserythropoietic anemia type III [ORDO Disease]
- Congenital dyserythropoietic anemia, type III gene [ORDO Gene]
See also inter- (CISMeF)
- Congenital dyserythropoietic anemia, type III gene [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital dyserythropoietic anemia type III [ORDO Disease]
- Congenital dyserythropoietic anemia, type III (disorder) [SNOMED CT concept]
- anemia, dyserythropoietic, congenital, type III [MeSH concept]
- congenital dyserythropoietic anemia type III [DO Concept]
- congenital dyserythropoietic anemia, type iii [SNOMED Notion]
Validated automatic mappings to NTBT
- anemia, dyserythropoietic, congenital [MeSH Descriptor]

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