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Symptomatic form of HFE-related hemochromatosis
ORPHA:465508 · Disease · Disorder
HPO 表現型（共 44 項）
Very frequent (99-80%)(4)
- Abnormality of iron homeostasisHP:0011031
- Elevated transferrin saturationHP:0012463
- Hyperpigmentation of the skinHP:0000953
- Increased circulating ferritin concentrationHP:0003281
Frequent (79-30%)(7)
- Abdominal painHP:0002027
- ArthropathyHP:0003040
- Decreased muscle massHP:0003199
- FatigueHP:0012378
- Generalized bronze hyperpigmentationHP:0007574
- HepatomegalyHP:0002240
- HyperglycemiaHP:0003074
Occasional (29-5%)(30)
- Abnormal metacarpophalangeal joint morphologyHP:0011911
- AmenorrheaHP:0000141
- ArthralgiaHP:0002829
- ArthritisHP:0001369
- CardiomegalyHP:0001640
- CardiomyopathyHP:0001638
- Chronic hepatic failureHP:0100626
- CirrhosisHP:0001394
- Congestive heart failureHP:0001635
- Decreased libidoHP:0046504
- Decreased serum testosterone concentrationHP:0040171
- Diabetes mellitusHP:0000819
- Elevated jugular venous pressureHP:0030848
- Erectile dysfunctionHP:0100639
- GynecomastiaHP:0000771
- Hepatocellular carcinomaHP:0001402
- Hypogonadotropic hypogonadismHP:0000044
- HypothyroidismHP:0000821
- InfertilityHP:0000789
- Joint stiffnessHP:0001387
- Joint swellingHP:0001386
- LethargyHP:0001254
- Muscle weaknessHP:0001324
- OsteoporosisHP:0000939
- Peripheral neuropathyHP:0009830
- Portal hypertensionHP:0001409
- SplenomegalyHP:0001744
- Stiff interphalangeal jointsHP:0005198
- Testicular atrophyHP:0000029
- Weight lossHP:0001824
Very rare (<4-1%)(3)
- ApathyHP:0000741
- ArrhythmiaHP:0011675
- CholangiocarcinomaHP:0030153