Hemochromatosis type 4

Definition

A form of rare hemochromatosis (HC) characterized by increased transferrin saturation and hepatocellular iron deposition with distribution patterns and clinical features indistinguishable from patients with other types of HC.

Also known as Ferroportin Disease, hereditary hemochromatosis caused by mutation in SLC40A1, HFE4, SLC40A1 hereditary hemochromatosis — per MONDO

Also identified as

• DOID 0111028 per MONDO
• MESH C537249 per MONDO
• OMIM 606069 per MONDO
• Orphanet 139491 per MONDO
• Orphanet 647834 per MONDO
• Orphanet 648562 per MONDO
• SCTID 719975002 per MONDO
• UMLS C1853733 per MONDO