Congenital dyserythropoietic anemia type…

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Congenital dyserythropoietic anemia type II

ORPHA:98873Disease

Also called CDA II · CDA type 2 · CDA type II · Congenital dyserythropoietic anemia type 2 · Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas) · SEC23B-CDG

What it is

A form of congenital dyserythropoietic anemia characterized by anemia, jaundice, splenomegaly, gallstones, and often iron overload.

Key facts

Prevalence
<1 / 1 000 000 (Europe)
Age of onset
Adolescent, Adult, Childhood, Elderly, Infancy, Neonatal
Inheritance
Autosomal recessive
Classified as
Disease

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Gene

SEC23BDisease-causing germline mutation(s) (loss of function)

ICD-10 codes

D64.4filed under a broader ICD-10 category — shared with 5 other rare diseases

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references

GARD 2001MONDO 0009134OMIM 224100UMLS C1306589

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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