Autosomal dominant secondary…

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Autosomal dominant secondary erythrocytosis

ORPHA:247511Disease

Also called Autosomal dominant secondary polycythemia

What it is

A rare, genetic, hematologic disease characterized by increased levels of serum hemoglobin, hematocrit and erythrocyte mass, associated with elevated or inappropriately normal erythropoietin serum levels, occurring in various members of a family and with autosomal dominant inheritance.

Key facts

Age of onset
Infancy, Neonatal
Inheritance
Autosomal dominant
Classified as
Disease

Genes

EGLN1Disease-causing germline mutation(s) (loss of function)
EPAS1Disease-causing germline mutation(s) (gain of function)
EPODisease-causing germline mutation(s) (gain of function)
HBA1Disease-causing germline mutation(s)
HBA2Disease-causing germline mutation(s)
HBBDisease-causing germline mutation(s)

ICD-10 codes

D75.1filed under a broader ICD-10 category — shared with 3 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

MONDO 0016599OMIM 609820OMIM 611783OMIM 617907OMIM 617980OMIM 617981UMLS C5190864

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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