Ferroportin disease

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Ferroportin disease

ORPHA:648562Disease

What it is

A rare disorder of iron metabolism and transport characterized by iron retention in macrophages (particularly of the liver and spleen), with a clinical picture of mild anemia and elevated of serum ferritin levels. Ferroportin disease is distinct from hemochromatosis as it is not associated with high transferrin saturation or low hepcidin concentrations.

Key facts

Inheritance
Autosomal dominant
Classified as
Disease

Gene

SLC40A1Disease-causing germline mutation(s) (loss of function)

ICD-10 codes

E83.1filed under a broader ICD-10 category — shared with 11 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

OMIM 606069UMLS C1853733

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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