hemochromatosis type 2
MeSH: C537247ORPHA: 79230
Overview
hemochromatosis characterized by autosomal recessive inheritance of early onset of severe iron loading with symptoms including; hypogonadotropic hypogonadism, cardiomyopathy, arthropathy, and liver fibrosis or cirrhosis
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with hemochromatosis type 2, sourced from HPO and Orphanet clinical annotations.
HypogonadismImpotenceDiabetes mellitusOsteoporosisLethargyMuscle weaknessDilated cardiomyopathyCongenital hepatic fibrosisElevated circulating hepatic transaminase concentrationArthropathyIncreased circulating ferritin concentrationGeneralized hyperpigmentationAbnormality of iron homeostasisAbnormality of endocrine pancreas physiologyElevated transferrin saturation
Classification & Codes
MeSH Code
C537247Orphanet Code
ORPHA:79230hemochromatosis type 2
| MeSH | C537247 |
| Orphanet | ORPHA:79230 |
| Treatments | 0 drug(s) |
| Symptoms on record | 15 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO