Anemia, congenital dyserythropoietic, type iva

Preferred Label : Anemia, congenital dyserythropoietic, type iva;

Symbol : CDAN4A;

CISMeF acronym : CDAN4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cda, type iva;

Description : Congenital dyserythropoietic anemia-4 is an autosomal dominant inherited red blood cell disorder characterized by ineffective erythropoiesis and hemolysis resulting in anemia. Circulating erythroblasts and erythroblasts in the bone marrow show various morphologic abnormalities. Affected individuals with CDAN4 also have increased levels of fetal hemoglobin (summary by Arnaud et al., 2010). For a discussion of the genetic heterogeneity of congenital dyserythropoietic anemia, see CDAN1 (224120).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the Krupple-like factor 1 gene (KLF1, 600599.0006);

Laboratory abnormalities : Hyperbilirubinemia;

Prefixed ID : #613673;

Details

Origin ID

613673;

UMLS CUI

C3150926;

Automatic exact mappings (from CISMeF team)
- Congenital Dyserythropoietic Anemia Type IV [NCIt concept]
- congenital dyserythropoietic anemia type IV [DO Concept]
Currated CISMeF NLP mapping
- Congenital dyserythropoietic anemia type IV [ORDO Disease]
- Congenital dyserythropoietic anemia type IV (disorder) [SNOMED CT concept]
DO Cross reference
- congenital dyserythropoietic anemia type IV [DO Concept]
Genes related to phenotype
- Kruppel-like factor 1 [OMIM gene]
HPO term(s)
- Anemia [HPO term]
- Anemia of inadequate production [HPO term]
- Anisocytosis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Circulating nucleated red blood cells [HPO term]
- Congenital onset [HPO term]
- Decreased hemoglobin concentration [HPO term]
- Erythroid hyperplasia [HPO term]
- Fetal onset [HPO term]
- Frontal bossing [HPO term]
- Hemolytic anemia [HPO term]
- Hepatomegaly [HPO term]
- Hepatosplenomegaly [HPO term]
- Hydrops fetalis [HPO term]
- Hyperbilirubinemia [HPO term]
- Hypertrophic cardiomyopathy [HPO term]
- Hypospadias [HPO term]
- Hypothyroidism [HPO term]
- Increased RBC distribution width [HPO term]
- Increased circulating lactate dehydrogenase concentration [HPO term]
- Juvenile onset [HPO term]
- Micropenis [HPO term]
- Persistence of hemoglobin F [HPO term]
- Poikilocytosis [HPO term]
- Reduced haptoglobin level [HPO term]
- Reduced hematocrit [HPO term]
- Reticulocytosis [HPO term]
- Schistocytosis [HPO term]
- Short stature [HPO term]
- Splenomegaly [HPO term]
- Unconjugated hyperbilirubinemia [HPO term]
- Weight loss [HPO term]
- Wide anterior fontanel [HPO term]
ORDO concept(s)
- Congenital dyserythropoietic anemia [ORDO Disease]
- Congenital dyserythropoietic anemia type IV [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital Dyserythropoietic Anemia Type IV [NCIt concept]
- Congenital dyserythropoietic anemia type IV [ORDO Disease]
- Congenital dyserythropoietic anemia type IV (disorder) [SNOMED CT concept]
- congenital dyserythropoietic anemia type IV [DO Concept]

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