Anemia, congenital dyserythropoietic, type ia

Preferred Label : Anemia, congenital dyserythropoietic, type ia;

Symbol : CDAN1A;

CISMeF acronym : CDAN1A;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cda, type ia; Dyserythropoietic anemia, congenital, type ia; Anemia, congenital dyserythropoietic, type I;

Description : CDA I is a rare inherited red blood cell disorder characterized by macrocytic anemia, ineffective erythropoiesis, and secondary hemochromatosis. It is occasionally associated with bone abnormalities, especially of the hands and feet (acrodysostosis), nail hypoplasia, and scoliosis (Tamary et al., 2005). Striking morphologic abnormalities of erythroblasts, reviewed by Wickramasinghe and Wood (2005), include the 'Swiss-cheese' abnormality of erythroblasts on electron microscopy. - Classification and Genetic Heterogeneity of Congenital Dyserythropoietic Anemia There are 4 types of congenital dyserythropoietic anemia: CDAN2 (224100), caused by mutation in the SEC23B gene (610512); CDAN3 (105600), which maps to chromosome 15q21; and CDAN4 (613673), caused by mutation in the KLF1 gene (600599). All forms of CDAN are characterized by ineffective erythropoiesis and multinuclear erythroblasts. The classification of the first 3 types is based on that described by Wendt and Heimpel (1967). Type I is characterized by megaloblastic changes. The more common type II (224100) is characterized by normocytic binuclear or multinuclear red cells, which on electron microscopy contain double cytoplasmic membranes. Type III (105600), which is autosomal dominant, shows prominent erythroblastic multinuclearity forming 'gigantoblasts' with up to 12 nuclei. Type IV (613673) is the designation given to a form of CDA with characteristics different from those of types I, II, and III (Wickramasinghe et al., 1991; Arnaud et al., 2010).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the codanin 1 gene (CDAN1, 607465.0001);

Laboratory abnormalities : Increased serum bilirubin; Decreased hemoglobin;

Prefixed ID : #224120;

Details

Origin ID

224120;

UMLS CUI

C5574667;

Automatic exact mappings (from CISMeF team)
- CDA Gene [NCIt concept]
- CDAN1 Gene [NCIt concept]
- CDAN1 wt Allele [NCIt concept]
- codanin 1 [ORDO Gene]
- congenital dyserythropoietic anemia type Ia [DO Concept]
Currated CISMeF NLP mapping
- Congenital dyserythropoietic anaemia type I [ICD-11 More detail]
- Congenital dyserythropoietic anemia type I [ORDO Disease]
- Congenital dyserythropoietic anemia, type I (disorder) [SNOMED CT concept]
- anemia, dyserythropoietic, congenital, type I [MeSH concept]
- congenital dyserythropoietic anemia type I [DO Concept]
- congenital dyserythropoietic anemia, type i [SNOMED Notion]
DO Cross reference
- congenital dyserythropoietic anemia type Ia [DO Concept]
False automatic mappings
- Cladribine [NCIt concept]
- Codanin-1 [NCIt concept]
Genes related to phenotype
- Codanin 1 [OMIM gene]
HPO term(s)
- Anemia of inadequate production [HPO term]
- Anisocytosis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Endopolyploidy on chromosome studies of bone marrow [HPO term]
- Erythroid hyperplasia [HPO term]
- Hydrops fetalis [HPO term]
- Macrocytic dyserythropoietic anemia [HPO term]
- Mild postnatal growth retardation [HPO term]
- Neonatal jaundice [HPO term]
- Poikilocytosis [HPO term]
- Prolonged neonatal jaundice [HPO term]
- Reduced level of N-acetylglucosaminyltransferase II [HPO term]
- Reticulocytosis [HPO term]
- Splenomegaly [HPO term]
- Syndactyly [HPO term]
ORDO concept(s)
- Congenital dyserythropoietic anemia [ORDO Disease]
- Congenital dyserythropoietic anemia type I [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital dyserythropoietic anemia type I [ORDO Disease]
- Congenital dyserythropoietic anemia, type I (disorder) [SNOMED CT concept]
- anemia, dyserythropoietic, congenital, type I [MeSH concept]
- congenital dyserythropoietic anemia type Ib [DO Concept]
- congenital dyserythropoietic anemia, type i [SNOMED Notion]
Validated automatic mappings to NTBT
- anemia, dyserythropoietic, congenital [MeSH Descriptor]

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