Trăsături

Trăsături asociate cu HFE

homeostatic iron regulator

Human Phenotype Ontology asociază 85 trăsături cu HFE, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Inability to properly digest food due to lack of pancreatic digestive enzymes	Foarte des (80–99%)
Malabsorption	Foarte des (80–99%)
Abdominal pain	Des (30–79%)
Enlarged liver	Des (30–79%)
Abnormality of the liver	Uneori (5–29%)
Acid reflux	Uneori (5–29%)
Chronic liver failure	Uneori (5–29%)
Fat in feces	Uneori (5–29%)
Hepatocellular carcinoma	Uneori (5–29%)
Meconium ileus	Uneori (5–29%)
Rectum protrudes through anus	Uneori (5–29%)
Scar tissue replaces healthy tissue in the liver	Uneori (5–29%)
Bile duct cancer	Rar (1–4%)
Accumulation of fluid in the abdomen	Neînregistrat

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Abnormality of iron homeostasis	Foarte des (80–99%)
Elevated serum ferritin	Foarte des (80–99%)
Elevated sweat chloride	Foarte des (80–99%)
Elevated transferrin saturation	Foarte des (80–99%)
High blood sugar	Des (30–79%)
Diabetes mellitus	Uneori (5–29%)
High liver enzymes	Uneori (5–29%)
Joint swelling	Uneori (5–29%)
Elevated circulating iron concentration	Neînregistrat
Fluid around lungs	Neînregistrat
Glucose intolerance	Neînregistrat

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Absent vas deferens	Foarte des (80–99%)
Male infertility	Des (30–79%)
Abnormal absence of menstruation	Uneori (5–29%)
Abnormal erection	Uneori (5–29%)
Decreased libido	Uneori (5–29%)
Infertility	Uneori (5–29%)
Testicular degeneration	Uneori (5–29%)
Kidney stone	Rar (1–4%)
Absent sperm in semen	Neînregistrat
Difficulty getting a full erection	Neînregistrat

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Cardiac failure	Uneori (5–29%)
Disease of the heart muscle	Uneori (5–29%)
Elevated jugular venous pressure	Uneori (5–29%)
Enlarged heart	Uneori (5–29%)
Increased spleen size	Uneori (5–29%)
Portal hypertension	Uneori (5–29%)
Abnormal heart rate	Rar (1–4%)
Spider veins	Neînregistrat

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Recurrent respiratory infections	Foarte des (80–99%)
Asthma	Uneori (5–29%)
Recurrent Aspergillus infection	Uneori (5–29%)
Recurrent chest infections	Uneori (5–29%)
Recurrent Haemophilus influenzae infection	Uneori (5–29%)
Recurrent Staphylococcus aureus infection	Uneori (5–29%)
Nontuberculous mycobacterial pulmonary infection	Rar (1–4%)
Recurrent Burkholderia cepacia infection	Rar (1–4%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Decreased muscle mass	Des (30–79%)
Disease of the joints	Des (30–79%)
Arthritis	Uneori (5–29%)
Joint stiffness	Uneori (5–29%)
Muscle weakness	Uneori (5–29%)
Osteopenia	Uneori (5–29%)
Osteoporosis	Uneori (5–29%)
Stiff hinge joints	Uneori (5–29%)

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Anxiety	Uneori (5–29%)
Depression	Uneori (5–29%)
Lethargy	Uneori (5–29%)
Peripheral neuropathy	Uneori (5–29%)
Lack of feeling, emotion, interest	Rar (1–4%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Obstructive lung disease	Foarte des (80–99%)
Permanent enlargement of the airways of the lungs	Foarte des (80–99%)
Reduced forced expiratory volume in one second	Uneori (5–29%)
Collapsed lung	Rar (1–4%)
Coughing up blood	Rar (1–4%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Decreased serum testosterone level	Uneori (5–29%)
Hypogonadotropic hypogonadism	Uneori (5–29%)
Underactive thyroid	Uneori (5–29%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Patchy darkened skin	Foarte des (80–99%)
Bronze skin	Des (30–79%)
Hair loss	Neînregistrat

Growth abnormality

Trăsătură	Cât de frecvent apare
Faltering weight	Des (30–79%)
Decreased body mass index	Uneori (5–29%)
Weight loss	Uneori (5–29%)

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Sinus disease	Uneori (5–29%)
Nasal polyposis	Rar (1–4%)

Constitutional symptom

Trăsătură	Cât de frecvent apare
Fatigue	Des (30–79%)
Joint pain	Uneori (5–29%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Abnormality of the knuckle	Uneori (5–29%)

Abnormality of the breast

Trăsătură	Cât de frecvent apare
Enlarged male breast	Uneori (5–29%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Hearing impairment	Rar (1–4%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu HFE și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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