Traits

Traits linked to HFE

homeostatic iron regulator

The Human Phenotype Ontology links 85 traits to HFE, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the digestive system

Trait	Kaip dažnai pasireiškia
Inability to properly digest food due to lack of pancreatic digestive enzymes	Labai dažnai (80–99%)
Malabsorption	Labai dažnai (80–99%)
Abdominal pain	Dažnai (30–79%)
Enlarged liver	Dažnai (30–79%)
Abnormality of the liver	Kartais (5–29%)
Acid reflux	Kartais (5–29%)
Chronic liver failure	Kartais (5–29%)
Fat in feces	Kartais (5–29%)
Hepatocellular carcinoma	Kartais (5–29%)
Meconium ileus	Kartais (5–29%)
Rectum protrudes through anus	Kartais (5–29%)
Scar tissue replaces healthy tissue in the liver	Kartais (5–29%)
Bile duct cancer	Retai (1–4 %)
Accumulation of fluid in the abdomen	Neužfiksuota

Laboratory abnormality

Trait	Kaip dažnai pasireiškia
Abnormality of iron homeostasis	Labai dažnai (80–99%)
Elevated serum ferritin	Labai dažnai (80–99%)
Elevated sweat chloride	Labai dažnai (80–99%)
Elevated transferrin saturation	Labai dažnai (80–99%)
High blood sugar	Dažnai (30–79%)
Diabetes mellitus	Kartais (5–29%)
High liver enzymes	Kartais (5–29%)
Joint swelling	Kartais (5–29%)
Elevated circulating iron concentration	Neužfiksuota
Fluid around lungs	Neužfiksuota
Glucose intolerance	Neužfiksuota

Abnormality of the genitourinary system

Trait	Kaip dažnai pasireiškia
Absent vas deferens	Labai dažnai (80–99%)
Male infertility	Dažnai (30–79%)
Abnormal absence of menstruation	Kartais (5–29%)
Abnormal erection	Kartais (5–29%)
Decreased libido	Kartais (5–29%)
Infertility	Kartais (5–29%)
Testicular degeneration	Kartais (5–29%)
Kidney stone	Retai (1–4 %)
Absent sperm in semen	Neužfiksuota
Difficulty getting a full erection	Neužfiksuota

Abnormality of the cardiovascular system

Trait	Kaip dažnai pasireiškia
Cardiac failure	Kartais (5–29%)
Disease of the heart muscle	Kartais (5–29%)
Elevated jugular venous pressure	Kartais (5–29%)
Enlarged heart	Kartais (5–29%)
Increased spleen size	Kartais (5–29%)
Portal hypertension	Kartais (5–29%)
Abnormal heart rate	Retai (1–4 %)
Spider veins	Neužfiksuota

Abnormality of the immune system

Trait	Kaip dažnai pasireiškia
Recurrent respiratory infections	Labai dažnai (80–99%)
Asthma	Kartais (5–29%)
Recurrent Aspergillus infection	Kartais (5–29%)
Recurrent chest infections	Kartais (5–29%)
Recurrent Haemophilus influenzae infection	Kartais (5–29%)
Recurrent Staphylococcus aureus infection	Kartais (5–29%)
Nontuberculous mycobacterial pulmonary infection	Retai (1–4 %)
Recurrent Burkholderia cepacia infection	Retai (1–4 %)

Abnormality of the musculoskeletal system

Trait	Kaip dažnai pasireiškia
Decreased muscle mass	Dažnai (30–79%)
Disease of the joints	Dažnai (30–79%)
Arthritis	Kartais (5–29%)
Joint stiffness	Kartais (5–29%)
Muscle weakness	Kartais (5–29%)
Osteopenia	Kartais (5–29%)
Osteoporosis	Kartais (5–29%)
Stiff hinge joints	Kartais (5–29%)

Abnormality of the nervous system

Trait	Kaip dažnai pasireiškia
Anxiety	Kartais (5–29%)
Depression	Kartais (5–29%)
Lethargy	Kartais (5–29%)
Peripheral neuropathy	Kartais (5–29%)
Lack of feeling, emotion, interest	Retai (1–4 %)

Abnormality of the respiratory system

Trait	Kaip dažnai pasireiškia
Obstructive lung disease	Labai dažnai (80–99%)
Permanent enlargement of the airways of the lungs	Labai dažnai (80–99%)
Reduced forced expiratory volume in one second	Kartais (5–29%)
Collapsed lung	Retai (1–4 %)
Coughing up blood	Retai (1–4 %)

Abnormality of the endocrine system

Trait	Kaip dažnai pasireiškia
Decreased serum testosterone level	Kartais (5–29%)
Hypogonadotropic hypogonadism	Kartais (5–29%)
Underactive thyroid	Kartais (5–29%)

Abnormality of the integument

Trait	Kaip dažnai pasireiškia
Patchy darkened skin	Labai dažnai (80–99%)
Bronze skin	Dažnai (30–79%)
Hair loss	Neužfiksuota

Growth abnormality

Trait	Kaip dažnai pasireiškia
Faltering weight	Dažnai (30–79%)
Decreased body mass index	Kartais (5–29%)
Weight loss	Kartais (5–29%)

Abnormality of head or neck

Trait	Kaip dažnai pasireiškia
Sinus disease	Kartais (5–29%)
Nasal polyposis	Retai (1–4 %)

Constitutional symptom

Trait	Kaip dažnai pasireiškia
Fatigue	Dažnai (30–79%)
Joint pain	Kartais (5–29%)

Abnormality of limbs

Trait	Kaip dažnai pasireiškia
Abnormality of the knuckle	Kartais (5–29%)

Abnormality of the breast

Trait	Kaip dažnai pasireiškia
Enlarged male breast	Kartais (5–29%)

Abnormality of the ear

Trait	Kaip dažnai pasireiškia
Hearing impairment	Retai (1–4 %)

Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.

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The Human Phenotype Ontology, release 2026-09-01: the traits linked to HFE and how often each is seen. Find out more at hpo.jax.org.

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