hemochromatosis type 1

ORPHA: 465508

Contents

1. Overview
2. Available Treatments
3. Clinical Presentation
4. Classification & Codes

Overview

hemochromatosis that has material basis in homozygous or compound heterozygous mutation in the HFE gene on chromosome 6p22

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 1, sourced from HPO and Orphanet clinical annotations.

Hyperpigmentation of the skinIncreased circulating ferritin concentrationAbnormality of iron homeostasisElevated transferrin saturationAbdominal painHepatomegalyArthropathyHyperglycemiaDecreased muscle massGeneralized bronze hyperpigmentationFatigueTesticular atrophyHypogonadotropic hypogonadismAmenorrheaGynecomastiaInfertilityDiabetes mellitusHypothyroidismOsteoporosisLethargyMuscle weaknessArthritisJoint swellingJoint stiffnessCirrhosisHepatocellular carcinomaPortal hypertensionCongestive heart failureCardiomyopathyCardiomegalySplenomegalyWeight lossArthralgiaStiff interphalangeal jointsPeripheral neuropathyAbnormal metacarpophalangeal joint morphologyElevated jugular venous pressureDecreased serum testosterone concentrationDecreased libidoChronic hepatic failureErectile dysfunctionApathyArrhythmiaCholangiocarcinoma

Classification & Codes

Orphanet Code

ORPHA:465508

hemochromatosis type 1

Orphanet	`ORPHA:465508`
Treatments	0 drug(s)
Symptoms on record	44 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO