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	나타나는 빈도
Inability to properly digest food due to lack of pancreatic digestive enzymes	매우 자주 (80–99%)
Malabsorption	매우 자주 (80–99%)
Abdominal pain	자주 (30–79%)
Enlarged liver	자주 (30–79%)
Abnormality of the liver	가끔 (5–29%)
Acid reflux	가끔 (5–29%)
Chronic liver failure	가끔 (5–29%)
Fat in feces	가끔 (5–29%)
Hepatocellular carcinoma	가끔 (5–29%)
Meconium ileus	가끔 (5–29%)
Rectum protrudes through anus	가끔 (5–29%)
Scar tissue replaces healthy tissue in the liver	가끔 (5–29%)
Bile duct cancer	드물게 (1–4%)
Accumulation of fluid in the abdomen	기록되지 않음

Trait	나타나는 빈도
Abnormality of iron homeostasis	매우 자주 (80–99%)
Elevated serum ferritin	매우 자주 (80–99%)
Elevated sweat chloride	매우 자주 (80–99%)
Elevated transferrin saturation	매우 자주 (80–99%)
High blood sugar	자주 (30–79%)
Diabetes mellitus	가끔 (5–29%)
High liver enzymes	가끔 (5–29%)
Joint swelling	가끔 (5–29%)
Elevated circulating iron concentration	기록되지 않음
Fluid around lungs	기록되지 않음
Glucose intolerance	기록되지 않음

Trait	나타나는 빈도
Absent vas deferens	매우 자주 (80–99%)
Male infertility	자주 (30–79%)
Abnormal absence of menstruation	가끔 (5–29%)
Abnormal erection	가끔 (5–29%)
Decreased libido	가끔 (5–29%)
Infertility	가끔 (5–29%)
Testicular degeneration	가끔 (5–29%)
Kidney stone	드물게 (1–4%)
Absent sperm in semen	기록되지 않음
Difficulty getting a full erection	기록되지 않음

Trait	나타나는 빈도
Cardiac failure	가끔 (5–29%)
Disease of the heart muscle	가끔 (5–29%)
Elevated jugular venous pressure	가끔 (5–29%)
Enlarged heart	가끔 (5–29%)
Increased spleen size	가끔 (5–29%)
Portal hypertension	가끔 (5–29%)
Abnormal heart rate	드물게 (1–4%)
Spider veins	기록되지 않음

Trait	나타나는 빈도
Recurrent respiratory infections	매우 자주 (80–99%)
Asthma	가끔 (5–29%)
Recurrent Aspergillus infection	가끔 (5–29%)
Recurrent chest infections	가끔 (5–29%)
Recurrent Haemophilus influenzae infection	가끔 (5–29%)
Recurrent Staphylococcus aureus infection	가끔 (5–29%)
Nontuberculous mycobacterial pulmonary infection	드물게 (1–4%)
Recurrent Burkholderia cepacia infection	드물게 (1–4%)

Trait	나타나는 빈도
Anxiety	가끔 (5–29%)
Depression	가끔 (5–29%)
Lethargy	가끔 (5–29%)
Peripheral neuropathy	가끔 (5–29%)
Lack of feeling, emotion, interest	드물게 (1–4%)

Trait	나타나는 빈도
Obstructive lung disease	매우 자주 (80–99%)
Permanent enlargement of the airways of the lungs	매우 자주 (80–99%)
Reduced forced expiratory volume in one second	가끔 (5–29%)
Collapsed lung	드물게 (1–4%)
Coughing up blood	드물게 (1–4%)

Trait	나타나는 빈도
Decreased serum testosterone level	가끔 (5–29%)
Hypogonadotropic hypogonadism	가끔 (5–29%)
Underactive thyroid	가끔 (5–29%)

Trait	나타나는 빈도
Sinus disease	가끔 (5–29%)
Nasal polyposis	드물게 (1–4%)

Trait	나타나는 빈도
Fatigue	자주 (30–79%)
Joint pain	가끔 (5–29%)

Trait	나타나는 빈도
Abnormality of the knuckle	가끔 (5–29%)

Trait	나타나는 빈도
Enlarged male breast	가끔 (5–29%)

Trait	나타나는 빈도
Hearing impairment	드물게 (1–4%)

Human Phenotype Ontology가 기록한, 해당 유전자와 관련된 질환을 가진 사람들 가운데 이 특징이 나타나는 빈도입니다. 이 페이지는 특징과 그 바탕이 되는 연구를 설명하며, 진단이 아닙니다. 증상에 대해서는 의사나 유전 상담사에게 문의하시기 바랍니다.

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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