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GTR Home > Conditions/Phenotypes > Congenital dyserythropoietic anemia type type 1B

Congenital dyserythropoietic anemia type type 1B

Synonyms
ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib; CDA, TYPE Ib

Summary

Excerpted from the GeneReview: Congenital Dyserythropoietic Anemia Type I
Congenital dyserythropoietic anemia type I (CDA I) is characterized by moderate-to-severe macrocytic anemia presenting occasionally in utero as severe anemia associated with hydrops fetalis but more commonly in neonates as hepatomegaly, early jaundice, and intrauterine growth restriction. Some individuals present in childhood or adulthood. After the neonatal period, most affected individuals have lifelong moderate anemia, usually accompanied by jaundice and splenomegaly. Secondary hemochromatosis develops with age as a result of increased iron absorption even in those who are not transfused. Distal limb anomalies occur in 4%-14% of affected individuals.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Hannah Tamary
Orly Dgany
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Available tests

18 tests are in the database for this condition.

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Clinical tests (18 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: C15orf41, HH114, CDIN1
    Summary: CDAN1 interacting nuclease 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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