Trăsături

Trăsături asociate cu FOXP3

forkhead box P3

Human Phenotype Ontology asociază 77 trăsături cu FOXP3, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

FOXP3

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Autoimmunity	Foarte des (80–99%)
Eczema	Foarte des (80–99%)
Allergy	Des (30–79%)
Anti-glutamic acid decarboxylase antibody positivity	Des (30–79%)
Anti-thyroid peroxidase antibody positivity	Des (30–79%)
Crusting erythematous dermatitis	Des (30–79%)
Food allergy	Des (30–79%)
Inflammatory abnormality of the skin	Des (30–79%)
Severe infection	Des (30–79%)
Anti-liver cytosolic antigen type 1 antibody positivity	Uneori (5–29%)
Insulin receptor antibody positivity	Uneori (5–29%)
Psoriasiform dermatitis	Uneori (5–29%)
Recurrent infections	Uneori (5–29%)
Recurrent respiratory infections	Uneori (5–29%)
Recurrent skin infections	Uneori (5–29%)
Red scaly skin caused by inflammatory skin disease	Uneori (5–29%)
Bone infection	Rar (1–4%)
Infection in blood stream	Rar (1–4%)
Meningitis	Rar (1–4%)
Muscle inflammation	Rar (1–4%)
Pneumonia	Rar (1–4%)
Immune dysregulation	Neînregistrat

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Chronic diarrhea	Întotdeauna
Abnormality of the intestine	Des (30–79%)
Secretory diarrhea	Des (30–79%)
Villous atrophy	Des (30–79%)
Liver inflammation	Uneori (5–29%)
Malabsorption	Uneori (5–29%)
Recurrent gastroenteritis	Uneori (5–29%)
Vomiting	Uneori (5–29%)
Colitis	Rar (1–4%)
Dependency on intravenous nutrition	Rar (1–4%)
Ileus	Rar (1–4%)
Nasogastric tube feeding	Rar (1–4%)
Stomach inflammation	Rar (1–4%)

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Decreased double-negative T cell number	Des (30–79%)
Iron deficiency anemia	Des (30–79%)
Low number of red blood cells or hemoglobin	Des (30–79%)
Autoimmune hemolytic anemia	Uneori (5–29%)
Autoimmune neutropenia	Uneori (5–29%)
Autoimmune thrombocytopenia	Uneori (5–29%)
Coombs-positive hemolytic anemia	Uneori (5–29%)
Low blood neutrophil count	Uneori (5–29%)
Low platelet count	Uneori (5–29%)
Decreased FOXP3-expressing T cell count	Neînregistrat
High blood eosinophil count	Neînregistrat

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Electrolyte disorders	Des (30–79%)
Type 1 diabetes	Des (30–79%)
Decreased circulating prealbumin concentration	Uneori (5–29%)
High liver enzymes	Uneori (5–29%)
Low albumin	Uneori (5–29%)
Low blood calcium levels	Uneori (5–29%)
Low blood magnesium levels	Uneori (5–29%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Abnormality of the endocrine system	Des (30–79%)
Thyroid gland inflammation	Des (30–79%)
Underactive thyroid	Uneori (5–29%)
Overactive thyroid	Rar (1–4%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Glomerulonephritis	Uneori (5–29%)
Membranous nephropathy	Uneori (5–29%)
Tubulointerstitial nephritis	Uneori (5–29%)
Nephrotic syndrome	Rar (1–4%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Hives	Uneori (5–29%)
Swollen lymph nodes	Uneori (5–29%)
Increased spleen size	Rar (1–4%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Abnormal blistering of the skin	Uneori (5–29%)
Hair loss	Uneori (5–29%)
Poor nail formation	Uneori (5–29%)

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Epilepsy	Uneori (5–29%)
Global developmental delay	Uneori (5–29%)
Ventriculomegaly	Rar (1–4%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Faltering weight	Des (30–79%)
Faltering weight in infancy	Des (30–79%)
Wasting syndrome	Uneori (5–29%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Breathing difficulties	Uneori (5–29%)
Interstitial pneumonitis	Uneori (5–29%)

Abnormal cellular phenotype

Trăsătură	Cât de frecvent apare
Increased circulating IgE concentration	Foarte des (80–99%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Arthritis	Uneori (5–29%)

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 FOXP3 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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