FTH1-related iron overload

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FTH1-related iron overload

ORPHA:247790Disease

Also called FTH1-associated iron overload

What it is

A rare disorder of iron metabolism and transport characterized by elevated serum ferritin levels, increased serum iron, increased transferrin saturation, and heavy iron deposition in hepatocytes. Iron deposition has also been indicated in heart and bone marrow, while hematological examination of peripheral blood shows no abnormalities.

Key facts

Prevalence
<1 / 1 000 000
Age of onset
No data available
Inheritance
Autosomal dominant
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

FTH1Disease-causing germline mutation(s)

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

GARD 13472MONDO 0014225OMIM 615517OMIM 620669UMLS C1851316

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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